Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing*

Science.gov (United States)

Hong, Nan; Chen, Yan-hua; Xie, Chen; Xu, Bai-sheng; Huang, Hui; Li, Xin; Yang, Yue-qing; Huang, Ying-ping; Deng, Jian-lian; Qi, Ming; Gu, Yang-shun

2014-01-01

Objective: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Methods: Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. Results: A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. Conclusions: We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis. PMID:25091991

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Science.gov (United States)

Hong, Nan; Chen, Yan-hua; Xie, Chen; Xu, Bai-sheng; Huang, Hui; Li, Xin; Yang, Yue-qing; Huang, Ying-ping; Deng, Jian-lian; Qi, Ming; Gu, Yang-shun

2014-08-01

Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Whole exome sequencing analysis was performed on DNA from an affected male to scan for candidate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. A combination of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.

Antiviral Activity and Resistance Analysis of NS3/4A Protease Inhibitor Grazoprevir and NS5A Inhibitor Elbasvir in Hepatitis C Virus GT4 Replicons.

Science.gov (United States)

Asante-Appiah, Ernest; Curry, Stephanie; McMonagle, Patricia; Ingravallo, Paul; Chase, Robert; Nickle, David; Qiu, Ping; Howe, Anita; Lahser, Frederick C

2017-07-01

Although genotype 4 (GT4)-infected patients represent a minor overall percentage of the global hepatitis C virus (HCV)-infected population, the high prevalence of the genotype in specific geographic regions coupled with substantial sequence diversity makes it an important genotype to study for antiviral drug discovery and development. We evaluated two direct-acting antiviral agents-grazoprevir, an HCV NS3/4A protease inhibitor, and elbasvir, an HCV NS5A inhibitor-in GT4 replicons prior to clinical studies in this genotype. Following a bioinformatics analysis of available GT4 sequences, a set of replicons bearing representative GT4 clinical isolates was generated. For grazoprevir, the 50% effective concentration (EC 50 ) against the replicon bearing the reference GT4a (ED43) NS3 protease and NS4A was 0.7 nM. The median EC 50 for grazoprevir against chimeric replicons encoding NS3/4A sequences from GT4 clinical isolates was 0.2 nM (range, 0.11 to 0.33 nM; n = 5). The difficulty in establishing replicons bearing NS3/4A resistance-associated substitutions was substantially overcome with the identification of a G162R adaptive substitution in NS3. Single NS3 substitutions D168A/V identified from de novo resistance selection studies reduced grazoprevir antiviral activity by 137- and 47-fold, respectively, in the background of the G162R replicon. For elbasvir, the EC 50 against the replicon bearing the reference full-length GT4a (ED43) NS5A gene was 0.0002 nM. The median EC 50 for elbasvir against chimeric replicons bearing clinical isolates from GT4 was 0.0007 nM (range, 0.0002 to 34 nM; n = 14). De novo resistance selection studies in GT4 demonstrated a high propensity to suppress the emergence of amino acid substitutions that confer high-potency reductions to elbasvir. Phenotypic characterization of the NS5A amino acid substitutions identified (L30F, L30S, M31V, and Y93H) indicated that they conferred 15-, 4-, 2.5-, and 7.5-fold potency losses, respectively, to elbasvir

Tests of Hadronic Probes of GT Strength

CERN Multimedia

2002-01-01

There are many important problems where one wishes to know the distribution of Gamow-Teller (GT) strength in circumstances where it cannot be measured directly (for example, because of energy-release limitations). Then one must rely on hadronic probes to infer the GT strength. It is therefore essential to test these probes as extensively as possible. The isospin-analog transitions in $^{37}$Ca $\\beta^{+}$ -decay and $^{37}$Cl$(p, n)$ provide an excellent ground for such a test. Recent $^{37}$Cl$ (p, n) $ studies, while qualitatively in agreement with our previous ISOLDE work on $^{37}$Ca $\\beta^{+} $ -decay, show quantitative discrepancies that appear to grow as the excitation energy in the residual nuclei increases. Because of the bulk of the GT strengh appears at these high excitation energies, it is important to extend the $\\beta$-decay data to even higher excitation energies where, because of rapidly diminishing phase-space, strong GT transitions correspond to very weak $\\beta$ -branches. We propose to do...

GT-MHR design, performance, and safety

International Nuclear Information System (INIS)

Neylan, A.J.; Shenoy, A.; Silady, F.A.; Dunn, T.D.

1994-11-01

The Gas Turbine-Modular Helium Reactor (GT-MHR) is the result of coupling the evolution of a low power density passively safe modular reactor with key technology developments in the U.S. during the last decade: large industrial gas turbines; large active magnetic bearings; and compact, highly effective plate-fin heat exchangers. This is accomplished through the unique use of the Brayton cycle to produce electricity with the helium as primary coolant from the reactor directly driving the gas turbine electrical generator. This cycle can achieve a high net efficiency in the range of 45% to 48%. In the design of the GT-MHR the desirable inherent characteristics of the inert helium coolant, graphite core, and the coated fuel particles are supplemented with specific design features such as passive heat removal to achieve the safety objective of not disturbing the normal day-to-day activities of the public even for beyond design basis rare accidents. Each GT-MHR plant consists of four modules. The GT-MHR module components are contained within steel pressure vessels: a reactor vessel, a power conversion vessel, and a connecting cross vessel. All vessels are sited underground in a concrete silo, which serves as an independent vented low pressure containment structure. By capitalizing on industrial and aerospace gas turbine development, highly effective heat exchanger designs, and inherent gas cooled reactor temperature characteristics, the passively safe GT-MHR provides a sound technical, monetary, and environmental basis for new nuclear power generating capacity. This paper provides an update on the status of the design, which has been under development on the US-DOE program since February 1993. An assessment of plant performance and safety is also included

Putative DNA-dependent RNA polymerase in Mitochondrial Plasmid of Paramecium caudatum Stock GT704

Directory of Open Access Journals (Sweden)

Trina Ekawati Tallei

2015-10-01

Full Text Available Mitochondria of Paramecium caudatum stock GT704 has a set of four kinds of linear plasmids with sizes of 8.2, 4.1, 2.8 and 1.4 kb. The plasmids of 8.2 and 2.8 kb exist as dimers consisting of 4.1- and 1.4-kb monomers, respectively. The plasmid 2.8 kb, designated as pGT704-2.8, contains an open reading frame encodes for putative DNA-dependent RNA polymerase (RNAP. This study reveals that this RNAP belongs to superfamily of DNA/RNA polymerase and family of T7/T3 single chain RNA polymerase and those of mitochondrial plasmid of fungi belonging to Basidiomycota and Ascomycota. It is suggested that RNAP of pGT704-2.8 can perform transcription without transcription factor as promoter recognition. Given that only two motifs were found, it could not be ascertained whether this RNAP has a full function independently or integrated with mtDNA in carrying out its function.

Multi-color lightcurve observation of the asteroid (163249) 2002 GT

Science.gov (United States)

Oshima, M.; Abe, S.

2014-07-01

NASA's Deep Impact/EPOXI spacecraft plans to encounter the asteroid (163249) 2002 GT, classified as a PHA (Potentially Hazardous Asteroid), on January 4, 2020. However, the taxonomic type and spin state of 2002 GT remain to be determined. We have carried out ground-based multi-color (B-V-R-I) lightcurve observations taking advantage of the 2002 GT Characterization Campaign by NASA. Multi-color lightcurve measurements allow us to estimate the rotation period and obtain strong constraints on the shape and pole orientation. Here we found that the rotation period of 2002 GT is estimated to be 3.7248 ± 0.1664 h. In mid-2013, 2002 GT passed at 0.015 au from the Earth, resulting an exceptional opportunity for ground-based characterization. Using the 0.81-m telescope of the Tenagra Observatory (110°52'44.8''W, +31°27'44.4''N, 1312 m) in Arizona, USA, and the Johnson-Cousins BVRI filters, we have found lightcurves of 2002 GT (Figure). The Tenagra II 0.81-m telescope is used for research of the Hayabusa2 target Asteroid (162173) 1999 JU_3. The lightcurves (relative magnitude) show that the rotation period of 2002 GT, the target of NASA's Deep Impact/EPOXI spacecraft, is estimated to be 3.7248 ± 0.1664 hr. On June 9, 2013, we had 7 hours of ground-based observations on 2002 GT from 4:00 to 11:00 UTC. The number of comparison stars for differential photometry was 34. Because of tracking the fast-moving asteroid, it was necessary to have the same comparison star among the fields of vision. We have also obtained absolute photometry of 2002 GT on June 13, 2013.

HTR-10GT AMBs displacement sensor design

International Nuclear Information System (INIS)

Shi Zhengang; Zha Meisheng; Zhao Lei; Sun Zhuo

2005-01-01

The 10 MW high temperature gas-cooled test module reactor (HTR-10GT) with the core made of spherical fuel elements was designed and constructed by the Institute of Nuclear and New Energy Technology of Tsinghua University in China. In the HTR-10GT, turbo-compressor and generator rotors are connected by a flexible coupling. The rotors, restricted by actual instruments and working environment, must be supported without any contact and lubrication. Active magnetic bearing (AMB), known as its advantages over the conventional bearings., such as contact-free, no-lubricating and active damping vibration, is the best way to suspend and stabilize the position of rotors of HTR-10GT. Each rotor is suspended by two radial and one axial AMBs. The radial AMB's radial gap is 0.15 mm considering the gap of 0.4 mm between the compressor stator and blades in order to protect the compressor. The control system controls the rotor position to meet the required gaps between rotor and stator through windings current. All the position information concerning radial and axial AMB is generated by sensors for measuring the displacement of the levitated body. Some typical sensors, i.e. eddy current displacement sensor, capacitive displacement sensor, can provide position information, but, quite often, unsatisfactory anti-jamming, which is a key issue for AMB systems near generator and other electric devices in HTR-10GT. Therefore, a kind of new type sensor is designed to measure the radial and axial displacements and the vibration of the rotors. This paper focuses on the design characteristics of the HTR-10GT AMBs displacement sensors and introduction of the related experiments to demonstrate its performance. (authors)

Preliminary safety evaluation of the Gas Turbine-Modular Helium Reactor (GT-MHR)

International Nuclear Information System (INIS)

Dunn, T.D.; Lommers, L.J.; Tangirala, V.E.

1994-04-01

A qualitative comparison between the safety characteristics of the Gas Turbine-Modular Helium Reactor (GT-MHR) and those of the steam cycle shows that the two designs achieve equivalent levels of overall safety performance. This comparison is obtained by applying the scaling laws to detailed steam-cycle computations as well as the conclusions obtained from preliminary GT-MHR model simulations. The gas turbine design is predicted to be superior for some event categories, while the steam cycle design is better for others. From a safety perspective, the GT-MHR has a modest advantage for pressurized conduction cooldown events. Recent computational simulations of 102 column, 550 MW(t) GT-MHR during a depressurized conduction cooldown show that peak fuel temperatures are within the limits. The GT-MHR has a significantly lower risk due to water ingress events under operating conditions. Two additional scenarios, namely loss of load event and turbine deblading event that are specific to the GT-MHR design are discussed. Preliminary evaluation of the GT-MHR's safety characteristics indicate that the GT-MHR can be expected to satisfy or exceed its safety requirements

[Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].

Science.gov (United States)

Jiang, Haiou; Ge, Chuanqin; Wang, Yiwang; Tang, Genyun; Quan, Qingli

2015-06-01

To identify potential mutations in a Chinese family with Usher syndrome type II. Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls. The patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database. The novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.

HTGR-GT and electrical load integrated control

International Nuclear Information System (INIS)

Chan, T.; Openshaw, F.; Pfremmer, D.

1980-05-01

A discussion of the control and operation of the HTGR-GT power plant is presented in terms of its closely coupled electrical load and core cooling functions. The system and its controls are briefly described and comparisons are made with more conventional plants. The results of analyses of selected transients are presented to illustrate the operation and control of the HTGR-GT. The events presented were specifically chosen to show the controllability of the plant and to highlight some of the unique characteristics inherent in this multiloop closed-cycle plant

International project GT-MHR - New generation of nuclear reactors

International Nuclear Information System (INIS)

Vasyaev, A.; Kodochigov, N.; Kuzavkov, N.; Kuznetsov, L.

2001-01-01

Gas turbine-modular helium reactor (GT-MHR) is the reactor of new generation, which satisfies the requirements of the progressing large-scale nuclear power engineering. The activities in GT-MHR Project started in 1995. In 1997 the Conceptual Design was developed under four-side Agreement (MINATOM, General Atomics, FRAMATOME, Fuji Electric); it has passed through the internal and international reviews, has been approved and recommended for further development as one of new trends in creation of new generation plants. Starting from 1999, the activities in the development of the Preliminary Design of the plant were deployed under the Agreement between the Government of the United States of America and the Government of the Russian Federation on Scientific and Technical Cooperation in the Management of Plutonium That Has Been Withdrawn From Nuclear Military Programs dated July 24, 1998. The activities are established under the Contract between MINATOM and OKBM Russia, and under the General Agreement between Department of Energy (DOE), USA and OKBM. The GT-MHR Project is included into 'Development Strategy of Russian Nuclear Power in the first Half of the XXI-st Century' providing for 'the participation in an international project on the development and construction of GT-MHR nuclear power plant till year 2010 and 'operation of GT-MHR prototype unit and creation of fuel fabrication facility (within framework of International Project) till year 2030'. (author)

Glycosyltransferase family 43 is also found in early eukaryotes and has three subfamilies in Charophycean green algae.

Directory of Open Access Journals (Sweden)

Rahil Taujale

Full Text Available The glycosyltransferase family 43 (GT43 has been suggested to be involved in the synthesis of xylans in plant cell walls and proteoglycans in animals. Very recently GT43 family was also found in Charophycean green algae (CGA, the closest relatives of extant land plants. Here we present evidence that non-plant and non-animal early eukaryotes such as fungi, Haptophyceae, Choanoflagellida, Ichthyosporea and Haptophyceae also have GT43-like genes, which are phylogenetically close to animal GT43 genes. By mining RNA sequencing data (RNA-Seq of selected plants, we showed that CGA have evolved three major groups of GT43 genes, one orthologous to IRX14 (IRREGULAR XYLEM14, one orthologous to IRX9/IRX9L and the third one ancestral to all land plant GT43 genes. We confirmed that land plant GT43 has two major clades A and B, while in angiosperms, clade A further evolved into three subclades and the expression and motif pattern of A3 (containing IRX9 are fairly different from the other two clades likely due to rapid evolution. Our in-depth sequence analysis contributed to our overall understanding of the early evolution of GT43 family and could serve as an example for the study of other plant cell wall-related enzyme families.

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family

Directory of Open Access Journals (Sweden)

Myo-Jing Kim

2014-12-01

Full Text Available Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP. Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T. This is the first report of such a case in Korea.

A Novel Glucosylation Reaction on Anthocyanins Catalyzed by Acyl-Glucose–Dependent Glucosyltransferase in the Petals of Carnation and Delphinium[C][W

Science.gov (United States)

Matsuba, Yuki; Sasaki, Nobuhiro; Tera, Masayuki; Okamura, Masachika; Abe, Yutaka; Okamoto, Emi; Nakamura, Haruka; Funabashi, Hisakage; Takatsu, Makoto; Saito, Mikako; Matsuoka, Hideaki; Nagasawa, Kazuo; Ozeki, Yoshihiro

2010-01-01

Glucosylation of anthocyanin in carnations (Dianthus caryophyllus) and delphiniums (Delphinium grandiflorum) involves novel sugar donors, aromatic acyl-glucoses, in a reaction catalyzed by the enzymes acyl-glucose–dependent anthocyanin 5(7)-O-glucosyltransferase (AA5GT and AA7GT). The AA5GT enzyme was purified from carnation petals, and cDNAs encoding carnation Dc AA5GT and the delphinium homolog Dg AA7GT were isolated. Recombinant Dc AA5GT and Dg AA7GT proteins showed AA5GT and AA7GT activities in vitro. Although expression of Dc AA5GT in developing carnation petals was highest at early stages, AA5GT activity and anthocyanin accumulation continued to increase during later stages. Neither Dc AA5GT expression nor AA5GT activity was observed in the petals of mutant carnations; these petals accumulated anthocyanin lacking the glucosyl moiety at the 5 position. Transient expression of Dc AA5GT in petal cells of mutant carnations is expected to result in the transfer of a glucose moiety to the 5 position of anthocyanin. The amino acid sequences of Dc AA5GT and Dg AA7GT showed high similarity to glycoside hydrolase family 1 proteins, which typically act as β-glycosidases. A phylogenetic analysis of the amino acid sequences suggested that other plant species are likely to have similar acyl-glucose–dependent glucosyltransferases. PMID:20971893

Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

Science.gov (United States)

Wang, Yun; Wang, Zhi; Chen, Mengping; Fan, Ning; Yang, Jie; Liu, Lu; Wang, Ying; Liu, Xuyang

2015-01-01

Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively). The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure. This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene) may be responsible for partial clinical manifestations of OCA.

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Science.gov (United States)

Iyadurai, Stanley; Arnold, W David; Kissel, John T; Ruhno, Corey; Mcgovern, Vicki L; Snyder, Pamela J; Prior, Thomas W; Roggenbuck, Jennifer; Burghes, Arthur H; Kolb, Stephen J

2017-08-01

Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822G>T mutation in MYH14. In this study we report phenotypic features in a North American family with the c.2822G>T in MYH14. Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN. A total of 11 affected and 7 unaffected individuals were evaluated and showed varying age of onset and severity of weakness. Genotypic concordance was confirmed with molecular analysis. Electrophysiological studies demonstrated distal motor axonal degeneration without myopathy in all affected subjects tested. Mutation of MYH14 can result in a range of neuromuscular phenotypes that includes a dHMN and hearing loss phenotype with variable age of onset. Muscle Nerve 56: 341-345, 2017. © 2016 Wiley Periodicals, Inc.

Bio sorption of strontium from aqueous solution by the new strain of bacillus sp. strain GT-83

International Nuclear Information System (INIS)

Tajer Mohammad Ghazvini, P.; Ghorbanzadeh Mashkani, S.; Mazaheri, M.

2009-01-01

An attempt was made to isolate bacterial strains capable of removing strontium biologically. In this study ten different water samples collected from Neydasht spring in the north of Iran and then the bacterial species were isolated from the water samples. The initial screening of a total of 50 bacterial isolates resulted in selection of one strain.The isolated strain showed a maximum adsorption capacity with 55 milligrams strontium/g dry wt. It was tentatively identified as Bacillus sp. According to the morphological and biochemical properties, and called strain GT-83. Our studies indicated that Bacillus sp. GT-83 is able to grow aerobically in the presence of 50 mM SrCl 2 , but its growth was inhibited at high levels of strontium concentrations. The bio sorption capacity of Bacillus sp. GT-83 depends strongly on the p H solution. Hence the maximum strontium sorption capacity of Bacillus sp. GT-83 was obtained at pah 10, independent of absence or presence of MgCl 2 of different concentrations. Strontium-salt bio sorption studies were also performed at this p H values. The equilibrium bio sorption of strontium was elevated by increasing the strontium concentration, up to 250 milligrams/l for Bacillus sp. GT-83. The maximum bio sorption of strontium was obtained at temperatures in the range of 30-35 d eg C . The Bacillus sp. GT-83 bio sorbed 97 milligrams strontium/g dry wt at 100 milligrams/l initial strontium concentration without MgCl 2 . When MgCl 2 concentration increased to 15%(w/v), these values dropped to 23.6 milligrams strontium/g dry wt at the same conditions. Uptake of strontium within 5 min of incubation was relatively rapid and the absorption continued slowly thereafter

INTEGRAL/JEM-X detection of fading emission from GT Mus

DEFF Research Database (Denmark)

Fiocchi, M.; Chenevez, J.; Sguera, V.

2015-01-01

On November 15th 2015 the MAXI/GSC detected a big flare from the RS CVn star GT Mus with a flux of ~100 mCrab in the 2-20 keV energy band. (ATel #8285). During recent INTEGRAL observations of the Musca region performed between 17 Nov 16:08 and 18 Nov 00:05 (UTC) the source GT Mus was within the f...

TPH2 -703G/T SNP may have important effect on susceptibility to suicidal behavior in major depression.

Science.gov (United States)

Yoon, Ho-Kyoung; Kim, Yong-Ku

2009-04-30

Serotonergic system-related genes can be good candidate genes for both major depressive disorder (MDD) and suicidal behavior. In this study, we aimed to investigate the association of serotonin 2A receptor gene -1438A/G SNP (HTR2A -1438A/G), tryptophan hydroxylase 2 gene -703G/T SNP (TPH2 -703G/T) and serotonin 1A receptor C-1019G (HTR1A C-1019G) with suicidal behavior. One hundred and eighty one suicidal depressed patients and 143 non-suicidal depressed patients who met DSM-IV criteria for major depressive disorder were recruited from patients who were admitted to Korea University Ansan Hospital. One hundred seventy six normal controls were healthy volunteers who were recruited by local advertisement. Patients and normal controls were genotyped for HTR2A -1438A/G, TPH2 -703G/T and 5-HT1A C-1019G. The suicidal depressed patients were evaluated by the lethality of individual suicide attempts using Weisman and Worden's risk-rescue rating (RRR) and the Lethality Suicide Attempt Rating Scale-updated (LSARS-II). In order to assess the severity of depressive symptoms of patients, Hamilton's Depression Rating Scale (HDRS) was administered. Genotype and allele frequencies were compared between groups by chi(2) statistics. Association of genotype of the candidate genes with the lethality of suicidal behavior was examined with ANOVA by comparing the mean scores of LSARS and RRR according to the genotype. There were statistically significant differences in the genotype distributions and allele frequencies of TPH2 -703G/T between the suicidal depressive group and the normal control group. The homozygous allele G (G/G genotype) frequency was significantly higher in suicidal depressed patients than in controls. However, no differences in either genotype distribution or in allele frequencies of HTR2A -1438A/G and HTR1A C-1019G were observed between the suicidal depressed patients, the non-suicidal depressed patients, and the normal controls. There were no differences in the

Turbo-machine deployment of HTR-10 GT

International Nuclear Information System (INIS)

Zhu Shutang; Wang Jie; Zhang Zhengming; Yu Suyuan

2005-01-01

As a testing project of gas turbine modular High Temperature Gas-cooled Reactor (HTGR), HTR-10GT has been studied and developed by Institute of Nuclear and New Energy Technology (INET) of Tsinghua University after the success of HTR-10 with steam turbine cycle. The main purposes of this project are to demonstrate the gas turbine modular HTGR, to optimize the deployment of Power Conversion Unit (PCU) and to verify the techniques of turbo-machine, operating modes and controlling measures. HTR-10GT is concentrated on the PCU design and the turbo-machine deployment. Possible turbo-machine deployments have been investigated and two of them are introduced in this paper. The preliminary design for the turbo-machine of HTR-10GT is single-shaft of vertical layout, arranged by the side of the reactor and the turbo-compressor rotary speed was selected to be 250 s -1 (15000 r/min) by considering the efficiency of turbo-compressor blade systems, the strength conditions and the mass and size characteristics of the turbo-compressor. The rotor system will be supported by electromagnetic bearings (EMBs) to curb the possible pollutions of the primary loop. Of all the components in this design, the high speed turbo-generator seems to be a world-wide technical nut. As an alternative design, a gearbox complex is used to reduce the rotary speed from the turbo-compressor 250 s -1 to 50 s -1 so that the ordinary generator can be used. (authors)

Comparison of Raw Acceleration from the GENEA and ActiGraph™ GT3X+ Activity Monitors

Directory of Open Access Journals (Sweden)

Dinesh John

2013-10-01

Full Text Available Purpose: To compare raw acceleration output of the ActiGraph™ GT3X+ and GENEA activity monitors. Methods: A GT3X+ and GENEA were oscillated in an orbital shaker at frequencies ranging from 0.7 to 4.0 Hz (ten 2-min trials/frequency on a fixed radius of 5.08 cm. Additionally, 10 participants (age = 23.8 ± 5.4 years wore the GT3X+ and GENEA on the dominant wrist and performed treadmill walking (2.0 and 3.5 mph and running (5.5 and 7.5 mph and simulated free-living activities (computer work, cleaning a room, vacuuming and throwing a ball for 2-min each. A linear mixed model was used to compare the mean triaxial vector magnitude (VM from the GT3X+ and GENEA at each oscillation frequency. For the human testing protocol, random forest machine-learning technique was used to develop two models using frequency domain (FD and time domain (TD features for each monitor. We compared activity type recognition accuracy between the GT3X+ and GENEA when the prediction model was fit using one monitor and then applied to the other. Z-statistics were used to compare the proportion of accurate predictions from the GT3X+ and GENEA for each model. Results: GENEA produced significantly higher (p < 0.05, 3.5 to 6.2% mean VM than GT3X+ at all frequencies during shaker testing. Training the model using TD input features on the GENEA and applied to GT3X+ data yielded significantly lower (p < 0.05 prediction accuracy. Prediction accuracy was not compromised when interchangeably using FD models between monitors. Conclusions: It may be inappropriate to apply a model developed on the GENEA to predict activity type using GT3X+ data when input features are TD attributes of raw acceleration.

Ocorrência do SNP c.767G>T no gene DNM1responsável pelo colapso induzido pelo exercício em cães da raça Labrador Retriever no Estado de São Paulo

Directory of Open Access Journals (Sweden)

Roberta M. Basso

2015-05-01

Full Text Available Resumo:O colapso induzido pelo exercício (EIC é considerado uma síndrome autossômica recessiva que afeta principalmente cães da raça Labrador Retriever. A doença é caracterizada por fraqueza muscular e colapso após exercício intenso. Usualmente, ocorre recuperação clínica após o episódio, mas alguns animais podem vir a óbito. Os sinais clínicos são decorrentes do polimorfismo de base única (SNP c.767G>T no gene Dynamin 1 (DNM1. O objetivo deste trabalho foi determinar a ocorrência deste SNP em 321 cães da raça Labrador Retriever do Estado de São Paulo. Primers específicos para a amplificação de todo o exon 6 do gene DNM1 foram usados nas PCRs utilizando DNA a partir de amostras de sangue ou swab bucal, a avaliação final foi realizada com sequenciamento direto dos produtos da PCR. Dentre os 321 animais estudados, 3,4 % (11/321 eram homozigotos para o SNP c.767G>T no gene DNM1 e 24,6% (79/321 eram heterozigotos. Somente um dos 11 animais homozigotos apresentavam sinais clínicos compatíveis com a EIC. Este é o primeiro estudo sobre a ocorrência deste SNP no Brasil e considerando que quase 25% dos animais estudados eram heterozigotos, a genotipagem dos animais para este SNP pode ser importante antes dos acasalamentos para cães desta raça. A EIC deve ser considerada nos diagnósticos diferenciais de enfermidades neuromusculares em cães da raça Labrador Retriever.

cDNA cloning and characterization of mouse DTEF-1 and ETF, members of the TEA/ATTS family of transcription factors.

Science.gov (United States)

Yockey, C E; Shimizu, N

1998-02-01

Members of the TEA/ATTS family of transcription factors have been found in most representative eukaryotic organisms. In vertebrates, the TEA family contains at least four members, which share overlapping DNA-binding specificity and have similar transcriptional activation properties. In this article, we describe the cDNA cloning and characterization of the murine TEA proteins DTEF-1 (mDTEF-1) and ETF. Using in situ hybridization analysis of mouse embryos, we found that mDTEF-1 and ETF transcript distributions substantially overlap. ETF is expressed throughout the embryo except in the myocardium early in development, whereas late in development, it is enriched in lung and neuroectoderm. Mouse DTEF-1 is expressed at a much lower level throughout development and is substantially enriched in ectoderm and skin, as well as in the developing pituitary at midgestation. Northern blot analysis of adult mouse tissue total RNA showed that both ETF and mDTEF-1 are abundant in uterus and lung relative to other tissues. Using gel mobility shift assays and GAL4-fusion protein analysis, we demonstrated that the full coding sequences of ETF and mDTEF-1 encode M-CAT/GT-IIC-binding proteins containing activation domains.

Summarized report of geothermal well Gross Buchholz Gt1; Kurzprofil der Geothermiebohrung Gross Buchholz Gt1

Energy Technology Data Exchange (ETDEWEB)

Schaefer, Frauke; Hesshaus, Annalena; Jatho, Reiner; Luppold, Friedrich-Wilhelm; Pletsch, Thomas; Tischner, Torsten [Bundesanstalt fuer Geowissenschaften und Rohstoffe (BGR), Hannover (Germany); Hunze, Sabine; Orilski, Judith; Wonik, Thomas [Leibniz-Institut fuer Angewandte Geophysik (LIAG), Hannover (Germany); Roehling, Heinz-Gerd [Landesamt fuer Bergbau, Energie und Geologie (LBEG), Hannover (Germany)

2012-01-15

The well Gross Buchholz Gt1 is a deep geothermal well intended to demonstrate the feasibility of deep geothermal energy mining from tight sedimentary rocks. It is the core part of the GeneSys (Generated Geothermal Energy Systems) project, aiming at developing single well concepts for direct use of geothermal energy. During the course of the project, three different single well concepts have been developed and tested at the research well Horstberg Z1 which is geologically comparable to the Gross Buchholzwell. The latter is intended to supply the heating energy for the premises of Geozentrum Hannover, an office and lab complex of some 35.000 m{sup 2} housing about 1000 employees. The geothermal target are the sandstones of the Lower Triassic Middle Buntsandstein Formation, which have a temperature of about 165 C at 3700 depth. The well has reached a final depth of 3901 m below ground level, penetrating a nearly complete succession from the Lower Cretaceous (Albian) to the Lower Triassic (Lower Buntsandstein), while Tertiary and Upper Cretaceous sediments are missing. This article summarizes technical and geographic data, stratigraphic classification, geophysical logging, cores, and sidewall cores of the well. (orig.)

Interactions between the APOA5 -1131T>C and the FEN1 10154G>T polymorphisms on ω6 polyunsaturated fatty acids in serum phospholipids and coronary artery disease

Science.gov (United States)

Park, Ju Yeon; Paik, Jean Kyung; Kim, Oh Yoen; Chae, Jey Sook; Jang, Yangsoo; Lee, Jong Ho

2010-01-01

We determined the contribution of the combination of FEN1 10154G>T with the most significant association in the analysis of plasma arachidonic acid (AA, 20:4ω6) and the APOA5-1131T>C on phospholipid ω6PUFA and coronary artery disease (CAD). Patients with CAD (n = 807, 27–81 years of age) and healthy controls (n = 1123) were genotyped for FEN1 10154G>T and APOA5-1131T>C. We found a significant interaction between these two genes for CAD risk (P = 0.007) adjusted for confounding factors. APOA5-1131C allele carriers had a higher CAD risk [odds ratio (OR):1.484, 95% confidence interval (CI):1.31–1.96; P = 0.005] compared with APOA5-1131TT individuals in the FEN1 10154GG genotype group but not in the FEN1 10154T allele group (OR:1.096, 95%CI:0.84–1.43; P = 0.504). Significant interactions between these two genes were also observed for the AA proportion (P = 0.04) and the ratio of AA/linoleic acid (LA, 18:2ω6) (P = 0.004) in serum phospholipids of controls. The APOA5-1131C allele was associated with lower AA (P = 0.027) and AA/LA (P = 0.014) only in controls carrying the FEN1 10154T allele. In conclusion, the interaction between these genes suggests that the FEN1 10154T variant allele decreases AA and AA/LA in the serum phospholipids of carriers of the APOA5-1131C allele, but contributes no significant increase in CAD risk for this population subset despite their increased triglylcerides and decreased apoA5. PMID:20802161

Analgesic effect of GT-0198, a structurally novel glycine transporter 2 inhibitor, in a mouse model of neuropathic pain

Directory of Open Access Journals (Sweden)

Yu Omori

2015-03-01

Full Text Available This study was conducted to identify the characteristic pharmacological features of GT-0198 that is phenoxymethylbenzamide derivatives. GT-0198 inhibited the function of glycine transporter 2 (GlyT2 in human GlyT2-expressing HEK293 cells and did not bind various major transporters or receptors of neurotransmitters in a competitive manner. Thus, GT-0198 is considered to be a comparatively selective GlyT2 inhibitor. Intravenous, oral, and intrathecal injections of GT-0198 decreased the pain-related response in a model of neuropathic pain with partial sciatic nerve ligation. This result suggests that GT-0198 has an analgesic effect. The analgesic effect of GT-0198 was abolished by the intrathecal injection of strychnine, a glycine receptor antagonist. Therefore, GT-0198 is considered to exhibit its analgesic effect via the activation of a glycine receptor by glycine following presynaptic GlyT2 inhibition in the spinal cord. In summary, GT-0198 is a structurally novel GlyT2 inhibitor bearing a phenoxymethylbenzamide moiety with in vivo efficacy in behavioral models of neuropathic pain.

A thermodynamic study of waste heat recovery from GT-MHR using organic Rankine cycles

International Nuclear Information System (INIS)

Yari, Mortaza; Mahmoudi, S.M.S.

2011-01-01

This paper presents an investigation on the utilization of waste heat from a gas turbine-modular helium reactor (GT-MHR) using different arrangements of organic Rankine cycles (ORCs) for power production. The considered organic Rankine cycles were: simple organic Rankine cycle (SORC), ORC with internal heat exchanger (HORC) and regenerative organic Rankine cycle (RORC). The performances of the combined cycles were studied from the point of view of first and second-laws of thermodynamics. Individual models were developed for each component and the effects of some important parameters such as compressor pressure ratio, turbine inlet temperature, and evaporator and environment temperatures on the efficiencies and on the exergy destruction rate were studied. Finally the combined cycles were optimized thermodynamically using the EES (Engineering Equation Solver) software. Based on the identical operating conditions for the GT-MHR cycle, a comparison between the three combined cycles and a simple GT-MHR cycle is also were made. This comparison was also carried out from the point of view of economics. The GT-MHR/SORC combined cycle proved to be the best among all the cycles from the point of view of both thermodynamics and economics. The efficiency of this cycle was about 10% higher than that of GT-MHR alone. (orig.)

International co-operation in developing the GT-MHR

International Nuclear Information System (INIS)

La Bar, M.P.; Simon, W.A.

1997-01-01

In the Fall of 1995, driven by budget constraints and anti-nuclear sentiments, the US government decided to discontinue financial support of the Gas Turbine-Modular Helium Reactor (GT-MHR). At that time, significant work was underway with participation of several vendors with specialized expertise in various aspects of the GT-MHR. Fortunately the US government provided for documenting the design and development status through an orderly close-out program. Concurrent elimination of government restrictions opened the door for broader international cooperation. Discussion between General Atomics and the Russian Ministry of Atomic Energy (MINATOM), in the summer of 1994, led to an agreement on a jointly funded design and development program for the GT-MHR. The program is initially focused on the burning of weapons plutonium that becomes available from dismantled nuclear weapons. The long term goal is to utilize the same design for commercial applications - using uranium fuel. This program took advantage of existing technologies and facilities in the US and Russia, but right from the beginning left the door open for broader international cooperation. Accordingly, in January 1996, FRAMATOME has joined the ongoing effort. Discussions are underway with other international entities to join this program. The program is proceeding well. Several Russian laboratories/design organizations are participating with GA and FRAMATOME. Significant improvements in the power conversion system design are a clear example of the benefit of the cooperative effort. Further work needs to be done to confirm fuel and components prior to full deployment, etc., providing ample opportunities for international cooperation in many areas

Differences in glycosyltransferase family 61 accompany variation in seed coat mucilage composition in Plantago spp.

Science.gov (United States)

Phan, Jana L.; Tucker, Matthew R.; Khor, Shi Fang; Shirley, Neil; Lahnstein, Jelle; Beahan, Cherie; Bacic, Antony; Burton, Rachel A.

2016-01-01

Xylans are the most abundant non-cellulosic polysaccharide found in plant cell walls. A diverse range of xylan structures influence tissue function during growth and development. Despite the abundance of xylans in nature, details of the genes and biochemical pathways controlling their biosynthesis are lacking. In this study we have utilized natural variation within the Plantago genus to examine variation in heteroxylan composition and structure in seed coat mucilage. Compositional assays were combined with analysis of the glycosyltransferase family 61 (GT61) family during seed coat development, with the aim of identifying GT61 sequences participating in xylan backbone substitution. The results reveal natural variation in heteroxylan content and structure, particularly in P. ovata and P. cunninghamii, species which show a similar amount of heteroxylan but different backbone substitution profiles. Analysis of the GT61 family identified specific sequences co-expressed with IRREGULAR XYLEM 10 genes, which encode putative xylan synthases, revealing a close temporal association between xylan synthesis and substitution. Moreover, in P. ovata, several abundant GT61 sequences appear to lack orthologues in P. cunninghamii. Our results indicate that natural variation in Plantago species can be exploited to reveal novel details of seed coat development and polysaccharide biosynthetic pathways. PMID:27856710

Dynamics and control modeling of the closed-cycle gas turbine (GT-HTGR) power plant

International Nuclear Information System (INIS)

Bardia, A.

1980-02-01

The simulation if presented for the 800-MW(e) two-loop GT-HTGR plant design with the REALY2 transient analysis computer code, and the modeling of control strategies called for by the inherently unique operational requirements of a multiple loop GT-HTGR is described. Plant control of the GT-HTGR is constrained by the nature of its power conversion loops (PCLs) in which the core cooling flow and the turbine flow are directly related and thus changes in flow affect core cooling as well as turbine power. Additionally, the high thermal inertia of the reactor core precludes rapid changes in the temperature of the turbine inlet flow

LU60645GT and MA132843GT Catalogues of Lunar and Martian Impact Craters Developed Using a Crater Shape-based Interpolation Crater Detection Algorithm for Topography Data

Science.gov (United States)

Salamuniccar, Goran; Loncaric, Sven; Mazarico, Erwan Matias

2012-01-01

For Mars, 57,633 craters from the manually assembled catalogues and 72,668 additional craters identified using several crater detection algorithms (CDAs) have been merged into the MA130301GT catalogue. By contrast, for the Moon the most complete previous catalogue contains only 14,923 craters. Two recent missions provided higher-quality digital elevation maps (DEMs): SELENE (in 1/16° resolution) and Lunar Reconnaissance Orbiter (we used up to 1/512°). This was the main motivation for work on the new Crater Shape-based interpolation module, which improves previous CDA as follows: (1) it decreases the number of false-detections for the required number of true detections; (2) it improves detection capabilities for very small craters; and (3) it provides more accurate automated measurements of craters' properties. The results are: (1) LU60645GT, which is currently the most complete (up to D>=8 km) catalogue of Lunar craters; and (2) MA132843GT catalogue of Martian craters complete up to D>=2 km, which is the extension of the previous MA130301GT catalogue. As previously achieved for Mars, LU60645GT provides all properties that were provided by the previous Lunar catalogues, plus: (1) correlation between morphological descriptors from used catalogues; (2) correlation between manually assigned attributes and automated measurements; (3) average errors and their standard deviations for manually and automatically assigned attributes such as position coordinates, diameter, depth/diameter ratio, etc; and (4) a review of positional accuracy of used datasets. Additionally, surface dating could potentially be improved with the exhaustiveness of this new catalogue. The accompanying results are: (1) the possibility of comparing a large number of Lunar and Martian craters, of e.g. depth/diameter ratio and 2D profiles; (2) utilisation of a method for re-projection of datasets and catalogues, which is very useful for craters that are very close to poles; and (3) the extension of the

Molecular Evolution of the Glycosyltransferase 6 Gene Family in Primates

Directory of Open Access Journals (Sweden)

Eliane Evanovich

2016-01-01

Full Text Available Glycosyltransferase 6 gene family includes ABO, Ggta1, iGb3S, and GBGT1 genes and by three putative genes restricted to mammals, GT6m6, GTm6, and GT6m7, only the latter is found in primates. GT6 genes may encode functional and nonfunctional proteins. Ggta1 and GBGT1 genes, for instance, are pseudogenes in catarrhine primates, while iGb3S gene is only inactive in human, bonobo, and chimpanzee. Even inactivated, these genes tend to be conversed in primates. As some of the GT6 genes are related to the susceptibility or resistance to parasites, we investigated (i the selective pressure on the GT6 paralogs genes in primates; (ii the basis of the conservation of iGb3S in human, chimpanzee, and bonobo; and (iii the functional potential of the GBGT1 and GT6m7 in catarrhines. We observed that the purifying selection is prevalent and these genes have a low diversity, though ABO and Ggta1 genes have some sites under positive selection. GT6m7, a putative gene associated with aggressive periodontitis, may have regulatory function, but experimental studies are needed to assess its function. The evolutionary conservation of iGb3S in humans, chimpanzee, and bonobo seems to be the result of proximity to genes with important biological functions.

Helium turbomachine design for GT-MHR power plant

International Nuclear Information System (INIS)

McDonald, C.F.; Orlando, R.J.

1994-07-01

The power conversion system in the gas turbine modular helium reactor (GT-MHR) power plant is based on a highly recuperated closed Brayton cycle. The major component in the direct cycle system is a helium closed-cycle gas turbine rated at 286 MW(e). The rotating group consists of an intercooled helium turbocompressor coupled to a synchronous generator. The vertical rotating assembly is installed in a steel vessel, together with the other major components (i.e., recuperator, precooler, intercooler, and connecting ducts and support structures). The rotor is supported on an active magnetic bearing system. The turbine operates directly on the reactor helium coolant, and with a temperature of 850 degree C (1562 degree F) the plant efficiency is over 47%. This paper addresses the design and development planning of the helium turbomachine, and emphasizes that with the utilization of proven technology, this second generation nuclear power plant could be in service in the first decade of the 21st century

Family C 7TM receptor dimerization and activation

DEFF Research Database (Denmark)

Bonde, Marie Mi; Sheikh, Søren P; Hansen, Jakob Lerche

2006-01-01

The family C seven transmembrane (7TM) receptors constitutes a small and especially well characterized subfamily of the large 7TM receptor superfamily. Approximately 50% of current prescription drugs target 7TM receptors, this biologically important family represents the largest class of drug...... to be fully defined. This review presents the biochemical support for family C 7TM receptor dimerization and discusses its importance for receptor biosynthesis, surface expression, ligand binding and activation, since lessons learnt here may well be applicable to the whole superfamily of 7TM receptors.......-targets today. It is well established that family C 7TM receptors form homo- or hetero-dimers on the cell surface of living cells. The large extra-cellular domains (ECD) have been crystallized as a dimer in the presence and absence of agonist. Upon agonist binding, the dimeric ECD undergoes large conformational...

WS-VLAM: A GT4 based workflow management system

NARCIS (Netherlands)

Wibisono, A.; Vasyunin, D.; Korkhov, V.; Zhao, Z.; Belloum, A.; de Laat, C.; Adriaans, P.; Hertzberger, B.

2007-01-01

Generic Grid middleware, e.g., Globus Toolkit 4 (GT4), provides basic services for scientific workflow management systems to discover, store and integrate workflow components. Using the state of the art Grid services can advance the functionality of workflow engine in orchestrating distributed Grid

Overview of Hole GT3A: The sheeted dike/gabbro transition

Science.gov (United States)

Abe, N.; Harris, M.; Michibayashi, K.; de Obeso, J. C.; Kelemen, P. B.; Takazawa, E.; Teagle, D. A. H.; Coggon, J. A.; Matter, J. M.; Phase I Science Party, T. O. D. P.

2017-12-01

Hole GT3A (23.11409 N, 58.21172 E) was drilled by the Oman Drilling Project (OmDP) into Wadi Abdah of the Samail ophiolite, Oman. OmDP is an international collaboration supported by the International Continental Scientifi1c Drilling Program, the Deep Carbon Observatory, NSF, IODP, JAMSTEC, and the European, Japanese, German and Swiss Science Foundations, with in-kind support in Oman from the Ministry of Regional Municipalities and Water Resources, Public Authority of Mining, Sultan Qaboos University, and the German University of Technology. Hole GT3A was diamond cored in February to March 2017 to a total depth of 400 m. The outer surfaces of the cores were imaged and described on site before being curated, boxed and shipped to the IODP drill ship Chikyu, where they underwent comprehensive visual and instrumental analysis. Hole GT3A recovered predominantly sheeted dikes and gabbros and has been sub-divided into 4 igneous groups based on the abundance of gabbro downhole. Group 1 (Upper Sheeted Dike Sequence) occurs from 0 to 111.02 m, group II (Upper Gabbro Sequence) is from 111.02 to 127.89 m, group III (Lower Sheeted Dike Sequence) is between 127.89 to 233.84 m and group IV (Lower Gabbro Sequence) is from 233.84 to 400 m. Group II and IV are both associated with almost equal proportions of dikes to gabbroic lithologies, whereas group I & III have >95% dikes. The sheeted dikes were logged as either basalt (46.9 %) or diabase (26.2 %) depending on the predominant grain size of the dike. Gabbroic lithologies include (most to least abundant) gabbro, oxide gabbro and olivine gabbro. Other lithologies present include diorite (7.5%) and tonalite and trondhjemite (1%). Tonalite and trondhjemite are present as cm-sized dikelets and are found within group II and IV. Gabbroic lithologies generally display a varitextured appearance and are characterised by the co-existence of poikilitic and granular domains. Detailed observations of chilled margins and igneous contacts reveal

Selective tumor cell death induced by irradiated riboflavin through recognizing DNA G-T mismatch.

Science.gov (United States)

Yuan, Yi; Zhao, Yongyun; Chen, Lianqi; Wu, Jiasi; Chen, Gangyi; Li, Sheng; Zou, Jiawei; Chen, Rong; Wang, Jian; Jiang, Fan; Tang, Zhuo

2017-09-06

Riboflavin (vitamin B2) has been thought to be a promising antitumoral agent in photodynamic therapy, though the further application of the method was limited by the unclear molecular mechanism. Our work reveals that riboflavin was able to recognize G-T mismatch specifically and induce single-strand breaks in duplex DNA targets efficiently under irradiation. In the presence of riboflavin, the photo-irradiation could induce the death of tumor cells that are defective in mismatch repair system selectively, highlighting the G-T mismatch as potential drug target for tumor cells. Moreover, riboflavin is a promising leading compound for further drug design due to its inherent specific recognition of the G-T mismatch. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

Asymmetric GT of social networks

Science.gov (United States)

Szu, Harold

2010-04-01

Web citation indexes are computed according to a data vector X collected from the frequency of user accesses, citations weighted by other sites' popularities, and modified by the financial sponsorship in a proprietary manner. The indexing determining the information to be retrieved by the public should be made responsible transparently in at least two ways. One shall balance the inbound linkages pointed at the specific i-th site called the popularity (see paper for equation) with the outbound linkages (see paper for equation) called the risk factor before the release of new information as environmental impact analysis. The relationship between these two factors cannot be assumed equivalent (undirected) as in the case of many mainstream Graph Theory (GT) models.

Oman Drilling Project GT3 site survey: dynamics at the roof of an oceanic magma chamber

Science.gov (United States)

France, L.; Nicollet, C.; Debret, B.; Lombard, M.; Berthod, C.; Ildefonse, B.; Koepke, J.

2017-12-01

Oman Drilling Project (OmanDP) aims at bringing new constraints on oceanic crust accretion and evolution by drilling Holes in the whole ophiolite section (mantle and crust). Among those, operations at GT3 in the Sumail massif drilled 400 m to sample the dike - gabbro transition that corresponds to the top (gabbros) and roof (dikes) of the axial magma chamber, an interface where hydrothermal and magmatic system interacts. Previous studies based on oceanic crust formed at present day fast-spreading ridges and preserved in ophiolites have highlighted that this interface is a dynamic horizon where the axial melt lens that top the main magma chamber can intrude, reheat, and partially assimilate previously hydrothermally altered roof rocks. Here we present the preliminary results obtained in GT3 area that have allowed the community to choose the drilling site. We provide a geological and structural map of the area, together with new petrographic and chemical constraints on the dynamics of the dike - gabbro transition. Our new results allow us to quantify the dynamic processes, and to propose that 1/ the intrusive contact of the varitextured gabbro within the dikes highlights the intrusion of the melt lens top in the dike rooting zone, 2/ both dikes and previously crystallized gabbros are reheated, and recrystallized by underlying melt lens dynamics (up to 1050°C, largely above the hydrous solidus temperature of altered dikes and gabbros), 3/ the reheating range can be > 200°C, 4/ the melt lens depth variations for a given ridge position is > 200m, 5/ the reheating stage and associated recrystallization within the dikes occurred under hydrous conditions, 6/ the reheating stage is recorded at the root zone of the sheeted dike complex by one of the highest stable conductive thermal gradient ever recorded on Earth ( 3°C/m), 7/ local chemical variations in recrystallized dikes and gabbros are highlighted and used to quantify crystallization and anatectic processes, and the

Adiponectin Single Nucleotide Polymorphism (+276G/T) and Its ...

African Journals Online (AJOL)

The present study was investigating the association between the single nucleotide polymorphism +276 G/T of the adiponectin gene with serum adiponectin level in patients with coronary artery disease (CAD). In this study 100 healthy controls and 100 Egyptian patients with coronary artery disease of both genders ...

Expression, purification, crystallization and preliminary X-ray characterization of a putative glycosyltransferase of the GT-A fold found in mycobacteria

Energy Technology Data Exchange (ETDEWEB)

Fulton, Zara [The Protein Crystallography Unit, Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria 3800 (Australia); Australian Research Council Centre of Excellence in Structural and Functional Microbial Genomics, Monash University, Clayton, Victoria 3800 (Australia); Crellin, Paul K.; Brammananth, Rajini [Australian Research Council Centre of Excellence in Structural and Functional Microbial Genomics, Monash University, Clayton, Victoria 3800 (Australia); Department of Microbiology, School of Biomedical Sciences, Monash University, Clayton, Victoria 3800 (Australia); Zaker-Tabrizi, Leyla [The Protein Crystallography Unit, Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria 3800 (Australia); Australian Research Council Centre of Excellence in Structural and Functional Microbial Genomics, Monash University, Clayton, Victoria 3800 (Australia); Coppel, Ross L. [Australian Research Council Centre of Excellence in Structural and Functional Microbial Genomics, Monash University, Clayton, Victoria 3800 (Australia); Department of Microbiology, School of Biomedical Sciences, Monash University, Clayton, Victoria 3800 (Australia); Rossjohn, Jamie, E-mail: jamie.rossjohn@med.monash.edu.au; Beddoe, Travis, E-mail: jamie.rossjohn@med.monash.edu.au [The Protein Crystallography Unit, Department of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria 3800 (Australia); Australian Research Council Centre of Excellence in Structural and Functional Microbial Genomics, Monash University, Clayton, Victoria 3800 (Australia)

2008-05-01

MAP2569c from M. avium subsp. paratuberculosis, a putative glycosyltransferase implicated in mycobacterial cell-wall biosynthesis, was cloned, expressed, purified and crystallized. X-ray diffraction data were collected to 1.8 Å resolution. Glycosidic bond formation is a ubiquitous enzyme-catalysed reaction. This glycosyltransferase-mediated process is responsible for the biosynthesis of innumerable oligosaccharides and glycoconjugates and is often organism- or cell-specific. However, despite the abundance of genomic information on glycosyltransferases (GTs), there is a lack of structural data for this versatile class of enzymes. Here, the cloning, expression, purification and crystallization of an essential 329-amino-acid (34.8 kDa) putative GT of the classic GT-A fold implicated in mycobacterial cell-wall biosynthesis are reported. Crystals of MAP2569c from Mycobacterium avium subsp. paratuberculosis were grown in 1.6 M monoammonium dihydrogen phosphate and 0.1 M sodium citrate pH 5.5. A complete data set was collected to 1.8 Å resolution using synchrotron radiation from a crystal belonging to space group P4{sub 1}2{sub 1}2.

Expression, purification, crystallization and preliminary X-ray characterization of a putative glycosyltransferase of the GT-A fold found in mycobacteria

International Nuclear Information System (INIS)

Fulton, Zara; Crellin, Paul K.; Brammananth, Rajini; Zaker-Tabrizi, Leyla; Coppel, Ross L.; Rossjohn, Jamie; Beddoe, Travis

2008-01-01

MAP2569c from M. avium subsp. paratuberculosis, a putative glycosyltransferase implicated in mycobacterial cell-wall biosynthesis, was cloned, expressed, purified and crystallized. X-ray diffraction data were collected to 1.8 Å resolution. Glycosidic bond formation is a ubiquitous enzyme-catalysed reaction. This glycosyltransferase-mediated process is responsible for the biosynthesis of innumerable oligosaccharides and glycoconjugates and is often organism- or cell-specific. However, despite the abundance of genomic information on glycosyltransferases (GTs), there is a lack of structural data for this versatile class of enzymes. Here, the cloning, expression, purification and crystallization of an essential 329-amino-acid (34.8 kDa) putative GT of the classic GT-A fold implicated in mycobacterial cell-wall biosynthesis are reported. Crystals of MAP2569c from Mycobacterium avium subsp. paratuberculosis were grown in 1.6 M monoammonium dihydrogen phosphate and 0.1 M sodium citrate pH 5.5. A complete data set was collected to 1.8 Å resolution using synchrotron radiation from a crystal belonging to space group P4 1 2 1 2

Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family.

Science.gov (United States)

Pernudy-Ubau, Allan; Salinas-Molina, Jaslyn; Requenez, Yaneris; Ortiz-Lopez, Marianela; Puller, Ann-Christin; García-Rosales, Kenia; Rodríguez-Estrada, Anaishelle; Rodríguez-Romero, Walter; Mejía-Baltodano, Gerardo; Luo, Hong-Yuan; Chui, David H K

2017-01-01

Hemoglobin (Hb) is the protein responsible for oxygen transportation. It is a tetrameric protein comprising two α- and two β-globin subunits. In the literature, a large number of mutations in the α- and β-globin genes have been documented. Among these mutations, Hb Presbyterian (HBB: c.327 C>G), is a naturally occurring mutant exerting low oxygen affinity. The C to G exchange (AAC>AAG) at codon 108 of the β-globin gene results in the substitution of asparagine by lysine. Here, we document the identification of HBB: c.327 C>G in a 6-year-old female patient and her father from Nicaragua and Cuba, respectively. The presence of the abnormal Hb was confirmed by cellulose acetate electrophoresis, high performance liquid chromatography (HPLC) and genomic DNA sequencing. The β-globin gene sequences for both, father and daughter, disclosed the heterozygous mutation at codon 108 to be Hb Presbyterian or HBB: c.327 C>G. The mutant Hb was previously reported in four families from North America, Germany, Japan and Spain, respectively. This is the fifth family carrying HBB: c.327 C>G described to date and the first report from Latin America.

The evaluation of MCI, MI, PMI and GT on both genders with different age and dental status.

Science.gov (United States)

Bozdag, G; Sener, S

2015-01-01

The aim of this study was to measure the mandibular cortical index (MCI), mental index (MI), panoramic mandibular index (PMI) and cortical bone thickness in the zone of the gonial angle (GT) in panoramic radiographies from a large sample of males and females and to determine how they relate to patients' age, gender and dental status. 910 panoramic radiographs were obtained and grouped into age, dental status and gender. The MCI, MI, PMI and GT were analysed. Remarkable differences were observed for MCI and GT regarding gender, age groups and dental status on both sides (p PMI in females, dental status had an effect on the MI and PMI in males (p PMI (p PMI and MI measurements. The effects of age and tooth loss in the GT and MCI measurements are similar, and these indices can be accepted as more reliable in studies including both genders.

Replication study of STAT4 rs7574865 G/T polymorphism and risk of rheumatoid arthritis in a Chinese population.

Science.gov (United States)

Shen, Li; Liu, Ruiping; Zhang, Hui; Huang, Yong; Sun, Rongbin; Tang, Peifu

2013-09-10

Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are common systemic autoimmune diseases with genetic and environmental predisposing factors. Signal transducer and activator of transcription 4 (STAT4) transmits signals induced by interleukin-12, interleukin-23 and interferon-γ, which are key cytokines and play important roles in the development of autoimmune diseases. Previous studies confirmed the STAT4 rs7574865 G/T locus to be associated with RA. Thus we conducted a replication study to investigate STAT4 rs7574865 G/T polymorphism and RA/AS susceptibility in a Chinese population. We studied STAT4 rs7574865 G/T gene polymorphism in 520 patients with RA, 100 AS patients and 520 controls in a Chinese population. Genotyping was done using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). When the STAT4 rs7574865 GG homozygote genotype was used as the reference group, the GT or GT/TT genotypes were associated with the risk for RA. After stratification analyses, a significantly increased risk for RA associated with the STAT4 rs7574865 GT genotype was evident among the rheumatoid factor (RF)-positive patients, patients with higher erythrocyte sedimentation rate (ESR) level and patients with higher RA disease activity score (DAS28) compared with the STAT4 rs7574865 GG genotype. A significantly increased risk for RA associated with the STAT4 rs7574865 TT genotype was evident among older patients and RF-negative patients compared with the STAT4 rs7574865 GG genotype. STAT4 rs7574865 G/T was not associated with susceptibility to AS. This replication study confirmed that STAT4 rs7574865 G/T polymorphism was associated with the risk of RA. STAT4 polymorphisms are associated with rheumatoid arthritis risk. Copyright © 2013 Elsevier B.V. All rights reserved.

HTGR-GT primary coolant transient resulting from postulated turbine deblading

International Nuclear Information System (INIS)

Cadwallader, G.J.; Deremer, R.K.

1980-11-01

The turbomachine is located within the primary coolant system of a nuclear closed cycle gas turbine plant (HTGR-GT). The deblading of the turbine can cause a rapid pressure equilibration transient that generates significant loads on other components in the system. Prediction of and design for this transient are important aspects of assuring the safety of the HTGR-GT. This paper describes the adaptation and use of the RATSAM program to analyze the rapid fluid transient throughout the primary coolant system during a spectrum of turbine deblading events. Included are discussions of (1) specific modifications and improvements to the basic RATSAM program, which is also briefly described; (2) typical results showing the expansion wave moving upstream from the debladed turbine through the primary coolant system; and (3) the effect on the transient results of different plenum volumes, flow resistances, times to deblade, and geometries that can choke the flow

HTGR-GT closed-cycle gas turbine: a plant concept with inherent cogeneration (power plus heat production) capability

International Nuclear Information System (INIS)

McDonald, C.F.

1980-04-01

The high-grade sensible heat rejection characteristic of the high-temperature gas-cooled reactor-gas turbine (HTGR-GT) plant is ideally suited to cogeneration. Cogeneration in this nuclear closed-cycle plant could include (1) bottoming Rankine cycle, (2) hot water or process steam production, (3) desalination, and (4) urban and industrial district heating. This paper discusses the HTGR-GT plant thermodynamic cycles, design features, and potential applications for the cogeneration operation modes. This paper concludes that the HTGR-GT plant, which can potentially approach a 50% overall efficiency in a combined cycle mode, can significantly aid national energy goals, particularly resource conservation

Power unit with GT-MHR reactor plant for electricity production and district heating

International Nuclear Information System (INIS)

Kiryushin, A.L.; Kodochigov, N.G.; Kuzavkov, N.G.; Golovko, V.F.

2000-01-01

Modular helium reactor with the gas turbine (GT-MHR) is a perspective power reactor plant for the next century. The project reactor is based on experience of operation more than 50 gas-cooled reactors on carbon dioxide and helium, and also on subsequent achievements in the field of realization direct gas turbine Brayton cycle. To the beginning of 90 years, achievements in technology of gas turbines, highly effective recuperators and magnetic bearings made it possible to start development of the reactor plant project combining a safe modular gas cooled reactor and a power conversion system, realizing the highly effective Brayton cycle. The conceptual project of the commercial GT-MHR reactor plant fulfilled in 1997 by joint efforts of international firms, combines a safe modular reactor with an annular active core of prismatic fuel blocks and a power conversion system with direct gas turbine cycle. The efficiency of GT-MHR gas turbine cycle at level of about 48% makes it competitive in the electricity production market in comparison with any fossil or nuclear power stations

Selection of JAERI'S HTGR-GT concept

International Nuclear Information System (INIS)

Muto, Y.; Ishiyama, S.; Shiozawa, S.

2001-01-01

In JAERI, a feasibility study of HTGR-GT has been conducted as an assigned work from STA in Japan since January 1996. So far, the conceptual or preliminary designs of 600, 400 and 300 MW(t) power plants have been completed. The block type core and pebble-bed core have been selected in 600 MW(t) and 400/300 MW(t), respectively. The gas-turbine system adopts a horizontal single shaft rotor and then the power conversion vessel is separated into a turbine vessel and a heat exchanger vessel. In this paper, the issues related to the selection of these concepts are technically discussed. (author)

Conformational analysis of GT1B ganglioside and its interaction with botulinum neurotoxin type B: a study by molecular modeling and molecular dynamics.

Science.gov (United States)

Venkateshwari, Sureshkumar; Veluraja, Kasinadar

2012-01-01

The conformational property of oligosaccharide GT1B in aqueous environment was studied by molecular dynamics (MD) simulation using all-atom model. Based on the trajectory analysis, three prominent conformational models were proposed for GT1B. Direct and water-mediated hydrogen bonding interactions stabilize these structures. The molecular modeling and 15 ns MD simulation of the Botulinum Neuro Toxin/B (BoNT/B) - GT1B complex revealed that BoNT/B can accommodate the GT1B in the single binding mode. Least mobility was seen for oligo-GT1B in the binding pocket. The bound conformation of GT1B obtained from the MD simulation of the BoNT/B-GT1B complex bear a close conformational similarity with the crystal structure of BoNT/A-GT1B complex. The mobility noticed for Arg 1268 in the dynamics was accounted for its favorable interaction with terminal NeuNAc. The internal NeuNAc1 tends to form 10 hydrogen bonds with BoNT/B, hence specifying this particular site as a crucial space for the therapeutic design that can restrict the pathogenic activity of BoNT/B.

Expression of feeding-related peptide receptors mRNA in GT1-7 cell line and roles of leptin and orexins in control of GnRH secretion.

Science.gov (United States)

Yang, Ying; Zhou, Li-bin; Liu, Shang-quan; Tang, Jing-feng; Li, Feng-yin; Li, Rong-ying; Song, Huai-dong; Chen, Ming-dao

2005-08-01

To investigate the expression of feeding-related peptide receptors mRNA in GT1-7 cell line and roles of leptin and orexins in the control of GnRH secretion. Receptors of bombesin3, cholecystokinin (CCK)-A, CCK-B, glucagon-like peptide (GLP)1, melanin-concentrating hormone (MCH)1, orexin1, orexin2, neuromedin-B, neuropeptide Y (NPY)1 and NPY5, neurotensin (NT)1, NT2, NT3, and leptin receptor long form mRNA in GT1-7 cells were detected by reversed transcriptase-polymerase chain reaction. GT1-7 cells were treated with leptin, orexin A and orexin B at a cohort of concentrations for different lengths of time, and GnRH in medium was determined by radioimmunoassay (RIA). Receptors of bombesin 3, CCK-B, GLP1, MCH1, orexin1, neuromedin-B, NPY1, NPY5, NT1, NT3, and leptin receptor long form mRNA were expressed in GT1-7 cells, of which, receptors of GLP1, neuromedin-B, NPY1, and NT3 were highly expressed. No amplified fragments of orexin2, NT2, and CCK-A receptor cDNA were generated with GT1-7 RNA, indicating that the GT1-7 cells did not express mRNA of them. Leptin induced a significant stimulation of GnRH release, the results being most significant at 0.1 nmol/L for 15 min. In contrast to other studies in hypothalamic explants, neither orexin A nor orexin B affected basal GnRH secretion over a wide range of concentrations ranging from 1 nmol/L to 500 nmol/Lat 15, 30, and 60 min. Feeding and reproductive function are closely linked. Many orexigenic and anorexigenic signals may control feeding behavior as well as alter GnRH secretion through their receptors on GnRH neurons.

Real-World Study on Sofosbuvir-based Therapies in Asian Americans With Chronic Hepatitis C.

Science.gov (United States)

Pan, Calvin Q; Tiongson, Benjamin C; Hu, Ke-Qin; Han, Steven-Huy B; Tong, Myron; Chu, Danny; Park, James; Lee, Tai Ping; Bhamidimarri, Kalyan Ram; Ma, Xiaoli; Xiao, Pei Ying; Mohanty, Smruti R; Wang, Dan

2018-06-16

Limited data exist with regard to treatment outcomes in Asian Americans with chronic hepatitis C (CHC). We evaluated sofosbuvir (SOF)-based regimens in a national cohort of Asian Americans. Eligible Asian Americans patients with CHC who had posttreatment follow-up of 24 weeks for SOF -based therapies from December 2013 to June 2017 were enrolled from 11 sites across the United States. The primary endpoint was sustained virologic response (SVR) rates at posttreatment weeks 12 and 24. Secondary endpoints were to evaluate safety by tolerability and adverse events (AEs). Among 231 patients screened, 186 were enrolled. At baseline, 31% (57/186) patients were cirrhotic, 34% (63/186) were treatment experienced. Most of the subjects (42%, 79/186) received ledispavir/SOF therapy. The overall SVR12 was 95%, ranging from 86% in genotype (GT) 1b on SOF+ribavirin to 100% in GT 1b patients on ledipasvir/SOF at subgroup analyses. SVR12 was significantly lower in cirrhotic than in noncirrhotic patients [88% (50/57) vs. 98% (126/129), P<0.01]. Stratified by GT, SVR12 were: 96% (43/45) in GT 1a; 93% (67/72) in GT 1b; 100% (23/23) in GT 2; 90% (19/21) in GT 3; 100% (1/1) in GT 4; 83% (5/6) in GT 5; and 100% (16/16) in GT 6. Cirrhotic patients with treatment failure were primarily GT 1, (GT 1a, n=2; GT 1b, n=4) with 1 GT 5 (n=1). Patients tolerated the treatment without serious AEs. Late relapse occurred in 1 patient after achieving SVR12. In Asian Americans with CHC, SOF-based regimens were well tolerated without serious AEs and could achieve high SVR12 regardless of hepatitis C viral infection GT.

Expression and regulation of two idiotype families and subsets within an idiotype family among BALB/c antibodies against p-azophenylarsonate

International Nuclear Information System (INIS)

Brown, A.R.

1984-01-01

The expression and regulation of the two different iodiotype (id) families associated with the anti-p-azophenylarsonate (Ar) antibodies of BALB/c mice examined. Both families (5AF6 and 3C6) represented cross-reactive idiotypes (CRI) expressed in the anti-Ar of most individual BALB/c mice. In response to keyhole limpet hemocyanin-Ar, an average of about 28% of BALB/c anti-Ar had 5AF6 family idiotopes, while 3C6 family was expressed on about 16% of BALBc anti-Ar antibodies. Suppression induced by anti-idiotype treatment against one family did not suppress the expression of the other family suggesting that the two families were regulated independently. However, the relative expression of one family could influence the expression of the other, because depression of the 5AF6 family tended to increase the expression of the 3C6 family of anti-Ar. Analysis of the 5AF6 family showed that a majority of BALB/c mice produced antibodies heating most or all of the idiotopes associated with the family, but that a subset of about 35% of the antibodies synthesized lacked idiotopes associated with a monoclonal anti-Ar member of this family, 2.4. Treatment of mice with anti-idiotypes prepared against two different monoclonal anti-Ar of the 5AF6 family produced different effects: one enhanced while the other suppressed idiotype expression, suggesting that there are differences in the idiotopes associated with these two regulatory pathways. Additionally, results indicated that subsets of antibodies within the 5AF6 idiotype family could be regulated independently of each other

Porsche GT3 R Hybrid. Prototype and race lab; Porsche GT3 R Hybrid. Technologietraeger und rollendes Labor

Energy Technology Data Exchange (ETDEWEB)

Armbruster, Daniel [Porsche Motorsport, Weissach (Germany); Hennings, Stephan [Karlsruher Institut fuer Technologie (KIT), Karlsruhe (Germany). Inst. fuer Fahrzeugsystemtechnik

2011-05-15

Hybrid technology is one of the key technologies for coping with changing future requirements in the area of individual mobility. This technology is already being used in small, mid-size and upper class vehicles and is perceived by the public as environmentally friendly. To date, however, no hybrid drive concepts suitable for mass production have been available for sports cars, such as the Porsche 911. In order to answer questions about the optimum design of hybrid drive systems for high-performance vehicles and about the use of future technologies in motor racing, Porsche Motorsport therefore developed the GT3 R Hybrid. (orig.)

Expression, purification, crystallization and preliminary X-ray characterization of a putative glycosyltransferase of the GT-A fold found in mycobacteria

Energy Technology Data Exchange (ETDEWEB)

Fulton, Zara; Crellin, Paul K.; Brammananth, Rajini; Zaker-Tabrizi, Leyla; Coppel, Ross L.; Rossjohna, Jamie; Beddoe, Travis (Monash)

2008-05-28

Glycosidic bond formation is a ubiquitous enzyme-catalysed reaction. This glycosyltransferase-mediated process is responsible for the biosynthesis of innumerable oligosaccharides and glycoconjugates and is often organism- or cell-specific. However, despite the abundance of genomic information on glycosyltransferases (GTs), there is a lack of structural data for this versatile class of enzymes. Here, the cloning, expression, purification and crystallization of an essential 329-amino-acid (34.8 kDa) putative GT of the classic GT-A fold implicated in mycobacterial cell-wall biosynthesis are reported. Crystals of MAP2569c from Mycobacterium avium subsp. paratuberculosis were grown in 1.6 M monoammonium dihydrogen phosphate and 0.1 M sodium citrate pH 5.5. A complete data set was collected to 1.8 {angstrom} resolution using synchrotron radiation from a crystal belonging to space group P4{sub 1}2{sub 1}2.

An exergoeconomic investigation of waste heat recovery from the Gas Turbine-Modular Helium Reactor (GT-MHR) employing an ammonia–water power/cooling cycle

International Nuclear Information System (INIS)

Zare, V.; Mahmoudi, S.M.S.; Yari, M.

2013-01-01

A detailed exergoeconomic analysis is performed for a combined cycle in which the waste heat from the Gas Turbine-Modular Helium Reactor (GT-MHR) is recovered by an ammonia–water power/cooling cogeneration system. Parametric investigations are conducted to evaluate the effects of decision variables on the performances of the GT-MHR and combined cycles. The performances of these cycles are then optimized from the viewpoints of first law, second law and exergoeconomics. It is found that, combining the GT-MHR with ammonia–water cycle not only enhances the first and second law efficiencies of the GT-MHR, but also it improves the cycle performance from the exergoeconomic perspective. The results show that, when the optimization is based on the exergoeconomics, the unit cost of products is reduced by 5.4% in combining the two mentioned cycles. This is achieved with a just about 1% increase in total investment cost rate since the helium mass flow in the combined cycle is lower than that in the GT-MHR alone. - Highlights: • Application of exergetic cost theory to the combined GT-MHR/ammonia–water cycle. • Enhanced exergoeconomic performance for the combined cycle compared to the GT-MHR. • Comparable investment costs for the combined cycle and the GT-MHR alone

Characteristic analysis of rotor dynamics and experiments of active magnetic bearing for HTR-10GT

International Nuclear Information System (INIS)

Yang Guojun; Xu Yang; Shi Zhengang; Gu Huidong

2005-01-01

A 10 MW high-temperature gas-cooled reactor (HTR-10) was constructed by the Institute of Nuclear and New Energy Technology (INET) at Tsinghua University of China. The helium turbine and generator system of 10 MW high temperature gas-cooled reactor (HTR-10GT) is the second phase for the HTR-10 project. It is to set up a direct helium cycle to replace the current steam cycle. The active magnetic bearing (AMB) instead of ordinary mechanical bearing was chosen to support the rotor in the HTR-10GT. This rotor is vertically mounted to hold the turbine machine, compressors and the power generator together. The rotor's length is 7 m, its weight is about 1500 kg and the rotating speed is 15000 r/min. The structure of the rotor is so complicated that dynamic analysis of the rotor becomes difficult. One of the challenging problems is to exceed natural frequencies with enough stability and safety during reactor start up, power change and shutdown. The dynamic analysis of the rotor is the base for the design of control system. It is important for the rotor to exceed critical speeds. Some kinds of software and methods, such as MSC.Marc, Ansys, and the Transfer Matrix Method, are compared to fully analyze rotor dynamics characteristic in this paper. The modal analysis has been done for the HTR-10GT rotor. MSC.Marc was finally selected to analyze the vibration mode and the natural frequency of the rotor. The effects of AMB stiffness on the critical speeds of the rotor were studied. The design characteristics of the AMB control system for the HTR-10GT were studied and the related experiment to exceed natural frequencies was introduced. The experimental results demonstrate the system functions and validate the control scheme, which will be used in the HTR-10GT project. (authors)

Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil.

Science.gov (United States)

Moreira-Nunes, Caroline Aquino; Alcântara, Diego di Felipe Ávila; Lima-Júnior, Sérgio Figueiredo; Cavalléro, Sandro Roberto de Araújo; Rey, Juan Antonio; Pinto, Giovanny Rebouças; de Assumpção, Paulo Pimentel; Burbano, Rommel Rodriguez

2015-08-21

To characterize APC gene mutations and correlate them with patient phenotypes in individuals diagnosed with familial adenomatous polyposis (FAP) in northern Brazil. A total of 15 individuals diagnosed with FAP from 5 different families from the north of Brazil were analyzed in this study. In addition to patients with histopathological diagnosis of FAP, family members who had not developed the disease were also tested in order to identify mutations and for possible genetic counseling. All analyzed patients or their guardians signed a consent form approved by the Research Ethics Committee of the João de Barros Barreto University Hospital (Belem, Brazil). DNA extracted from the peripheral blood of a member of each of the affected families was subjected to direct sequencing. The proband of each family was sequenced to identify germline mutations using the Ion Torrent platform. To validate the detected mutations, Sanger sequencing was also performed. The samples from all patients were also tested for the identification of mutations by real-time quantitative polymerase chain reaction using the amplification refractory mutation system. Through interviews with relatives and a search of medical records, it was possible to construct genograms for three of the five families included in the study. All 15 patients from the five families with FAP exhibited mutations in the APC gene, and all mutations were detected in exon 15 of the APC gene. In addition to the patients with a histological diagnosis of FAP, family members without disease symptoms showed the mutation in the APC gene. In the present study, we detected two of the three most frequent germline mutations in the literature: the mutation at codon 1309 and the mutation at codon 1061. The presence of c.3956delC mutation was found in all families from this study, and suggests that this mutation was introduced in the population of the State of Pará through ancestor immigration (i.e., a de novo mutation that arose in one

GT-WGS: an efficient and economic tool for large-scale WGS analyses based on the AWS cloud service.

Science.gov (United States)

Wang, Yiqi; Li, Gen; Ma, Mark; He, Fazhong; Song, Zhuo; Zhang, Wei; Wu, Chengkun

2018-01-19

Whole-genome sequencing (WGS) plays an increasingly important role in clinical practice and public health. Due to the big data size, WGS data analysis is usually compute-intensive and IO-intensive. Currently it usually takes 30 to 40 h to finish a 50× WGS analysis task, which is far from the ideal speed required by the industry. Furthermore, the high-end infrastructure required by WGS computing is costly in terms of time and money. In this paper, we aim to improve the time efficiency of WGS analysis and minimize the cost by elastic cloud computing. We developed a distributed system, GT-WGS, for large-scale WGS analyses utilizing the Amazon Web Services (AWS). Our system won the first prize on the Wind and Cloud challenge held by Genomics and Cloud Technology Alliance conference (GCTA) committee. The system makes full use of the dynamic pricing mechanism of AWS. We evaluate the performance of GT-WGS with a 55× WGS dataset (400GB fastq) provided by the GCTA 2017 competition. In the best case, it only took 18.4 min to finish the analysis and the AWS cost of the whole process is only 16.5 US dollars. The accuracy of GT-WGS is 99.9% consistent with that of the Genome Analysis Toolkit (GATK) best practice. We also evaluated the performance of GT-WGS performance on a real-world dataset provided by the XiangYa hospital, which consists of 5× whole-genome dataset with 500 samples, and on average GT-WGS managed to finish one 5× WGS analysis task in 2.4 min at a cost of $3.6. WGS is already playing an important role in guiding therapeutic intervention. However, its application is limited by the time cost and computing cost. GT-WGS excelled as an efficient and affordable WGS analyses tool to address this problem. The demo video and supplementary materials of GT-WGS can be accessed at https://github.com/Genetalks/wgs_analysis_demo .

Structural Characterization of the Foliated-Layered Gabbro Transition in Wadi Tayin of the Samail Ophiolite, Oman; Oman Drilling Project Holes GT1A and GT2A

Science.gov (United States)

Deans, J. R.; Crispini, L.; Cheadle, M. J.; Harris, M.; Kelemen, P. B.; Teagle, D. A. H.; Matter, J. M.; Takazawa, E.; Coggon, J. A.

2017-12-01

Oman Drilling Project Holes GT1A and GT2A were drilled into the Wadi Tayin massif, Samail ophiolite and both recovered ca. 400 m of continuous core through a section of the layered gabbros and the foliated-layered gabbro transition. Hole GT1A is cut by a discrete fault system including localized thin ultracataclastic fault zones. Hole GT2A is cut by a wider zone of brittle deformation and incipient brecciation. Here we report the structural history of the gabbros reflecting formation at the ridge to later obduction. Magmatic and high temperature history- 1) Both cores exhibit a pervasive, commonly well-defined magmatic foliation delineated by plagioclase, olivine and in places clinopyroxene. Minor magmatic deformation is present. 2) The dip of the magmatic foliation varies cyclically, gradually changing dip by 30o from gentle to moderate over a 50 m wavelength. 3) Layering is present throughout both cores, is defined by changes in mode and grain size ranging in thickness from 2 cm to 3 m and is commonly sub-parallel to the foliation. 4) There are no high temperature crystal-plastic shear zones in the core. Key observations include: no simple, systematic shallowing of dip with depth across the foliated-layered gabbro transition and layering is continuous across this transition. Cyclic variation of magmatic foliation dip most likely reflects the process of plate separation at the ridge axis. Near-axis faulting- i) On or near-axis structures consist of epidote-amphibole bearing hydraulic breccias and some zones of intense cataclasis with intensely deformed epidote and seams of clay and chlorite accompanied by syntectonic alteration of the wall rock. Early veins are filled with amphibole, chlorite, epidote, and anhydrite. ii) The deformation ranges from brittle-ductile, causing local deflection of the magmatic foliation, to brittle offset of the foliation and core and mantle structures in anhydrite veins. iii) The prevalent sense of shear is normal and slickenfibers

Pathways limiting warming to 1.5°C: a tale of turning around in no time?

Science.gov (United States)

Kriegler, Elmar; Luderer, Gunnar; Bauer, Nico; Baumstark, Lavinia; Fujimori, Shinichiro; Popp, Alexander; Rogelj, Joeri; Strefler, Jessica; van Vuuren, Detlef P

2018-05-13

We explore the feasibility of limiting global warming to 1.5°C without overshoot and without the deployment of carbon dioxide removal (CDR) technologies. For this purpose, we perform a sensitivity analysis of four generic emissions reduction measures to identify a lower bound on future CO 2 emissions from fossil fuel combustion and industrial processes. Final energy demand reductions and electrification of energy end uses as well as decarbonization of electricity and non-electric energy supply are all considered. We find the lower bound of cumulative fossil fuel and industry CO 2 emissions to be 570 GtCO 2 for the period 2016-2100, around 250 GtCO 2 lower than the lower end of available 1.5°C mitigation pathways generated with integrated assessment models. Estimates of 1.5°C-consistent CO 2 budgets are highly uncertain and range between 100 and 900 GtCO 2 from 2016 onwards. Based on our sensitivity analysis, limiting warming to 1.5°C will require CDR or terrestrial net carbon uptake if 1.5°C-consistent budgets are smaller than 650 GtCO 2 The earlier CDR is deployed, the more it neutralizes post-2020 emissions rather than producing net negative emissions. Nevertheless, if the 1.5°C budget is smaller than 550 GtCO 2 , temporary overshoot of the 1.5°C limit becomes unavoidable if CDR cannot be ramped up faster than to 4 GtCO 2 in 2040 and 10 GtCO 2 in 2050.This article is part of the theme issue 'The Paris Agreement: understanding the physical and social challenges for a warming world of 1.5°C above pre-industrial levels'. © 2018 The Author(s).

Pathways limiting warming to 1.5°C: a tale of turning around in no time?

Science.gov (United States)

Kriegler, Elmar; Luderer, Gunnar; Bauer, Nico; Baumstark, Lavinia; Fujimori, Shinichiro; Popp, Alexander; Rogelj, Joeri; Strefler, Jessica; van Vuuren, Detlef P.

2018-05-01

We explore the feasibility of limiting global warming to 1.5°C without overshoot and without the deployment of carbon dioxide removal (CDR) technologies. For this purpose, we perform a sensitivity analysis of four generic emissions reduction measures to identify a lower bound on future CO2 emissions from fossil fuel combustion and industrial processes. Final energy demand reductions and electrification of energy end uses as well as decarbonization of electricity and non-electric energy supply are all considered. We find the lower bound of cumulative fossil fuel and industry CO2 emissions to be 570 GtCO2 for the period 2016-2100, around 250 GtCO2 lower than the lower end of available 1.5°C mitigation pathways generated with integrated assessment models. Estimates of 1.5°C-consistent CO2 budgets are highly uncertain and range between 100 and 900 GtCO2 from 2016 onwards. Based on our sensitivity analysis, limiting warming to 1.5°C will require CDR or terrestrial net carbon uptake if 1.5°C-consistent budgets are smaller than 650 GtCO2. The earlier CDR is deployed, the more it neutralizes post-2020 emissions rather than producing net negative emissions. Nevertheless, if the 1.5°C budget is smaller than 550 GtCO2, temporary overshoot of the 1.5°C limit becomes unavoidable if CDR cannot be ramped up faster than to 4 GtCO2 in 2040 and 10 GtCO2 in 2050. This article is part of the theme issue `The Paris Agreement: understanding the physical and social challenges for a warming world of 1.5°C above pre-industrial levels'.

Feasibility study for SOFC-GT hybrid locomotive power: Part I. Development of a dynamic 3.5 MW SOFC-GT FORTRAN model

OpenAIRE

Martinez, AS; Brouwer, J; Samuelsen, GS

2012-01-01

This work presents the development of a dynamic SOFC-GT hybrid system model applied to a long-haul freight locomotive in operation. Given the expectations of the rail industry, the model is used to develop a preliminary analysis of the proposed system's operational capability on conventional diesel fuel as well as natural gas and hydrogen as potential fuels in the future. It is found that operation of the system on all three of these fuels is feasible with favorable efficiencies and reasonabl...

Present activity of the feasibility study of HTGR-GT system

International Nuclear Information System (INIS)

Muto, Y.; Miyamoto, Y.; Shiozawa, S.

2001-01-01

In JAERI a feasibility study of the High Temperature Gas-cooled Reactor-Gas Turbine (HTGR-GT) system has been carried out since January, 1997 as an assigned work by the Science and Technology Agency. The study aims at obtaining a promising concept of HTGR-GT system that yields a high thermal efficiency and at the same time is economically competitive. Designs of a few candidate systems will be undertaken and their power generation costs will be evaluated in parallel with design works, some experimental works such as the fabrication of a plate-fin type heat exchanger core and material tests will be carried out. The study will be continued till 2000 fiscal year. In 1997 fiscal year, a preliminary design of a direct cycle plant of 600 MWt was developed. A reactor inlet gas temperature of 460 deg. C, a reactor outlet gas temperature of 850 deg. C and a helium gas pressure of 6MPa were selected. Some advanced technologies were adopted such as a monolithic fuel compact and a control rod sheath made of carbon/carbon composite material. They were very effective to enhance the heat transfer of fuel and to reduce the core bypass flow. As a result, a power density of 6MW/m 3 and the maximum burnup of 10 5 MWD/ton were achieved. A single-shaft horizontal turbomachine of 3600 rpm was selected to ease the mechanical design of the rotor supported by magnetic bearings. The turbine, two compressors, a generator and six units of intercooler were placed in a turbine vessel, Plate-fin type recuperator and precooler are installed in a vertical heat exchanger vessel. By this design, a net thermal efficiency of 45.7% is expected to be achieved. To develop a high performance plate-fin recuperator, a core model of W200 mm x L200 mm x H200 mm with small fin size of 1.15 mm height was fabricated and as a result of tests, leak tightness, component strength and bonding appearance were found to be satisfactory. In 1998 fiscal year, a design of a direct cycle plant of 300 MWt is undertaken. The

Overview of Hole GT2A: Drilling middle gabbro in Wadi Tayin massif, Oman ophiolite

Science.gov (United States)

Takazawa, E.; Kelemen, P. B.; Teagle, D. A. H.; Coggon, J. A.; Harris, M.; Matter, J. M.; Michibayashi, K.

2017-12-01

Hole GT2A (UTM: 40Q 655960.7E / 2529193.5N) was drilled by the Oman Drilling Project (OmDP) into Wadi Gideah of Wadi Tayin massif in the Samail ophiolite, Oman. OmDP is an international collaboration supported by the International Continental Scientific Drilling Program, the Deep Carbon Observatory, NSF, IODP, JAMSTEC, and the European, Japanese, German and Swiss Science Foundations, with in-kind support in Oman from the Ministry of Regional Municipalities and Water Resources, Public Authority of Mining, Sultan Qaboos University, and the German University of Technology. Hole GT2A was diamond cored in 25 Dec 2016 to 18 Jan 2017 to a total depth of 406.77 m. The outer surfaces of the cores were imaged and described on site before being curated, boxed and shipped to the IODP drill ship Chikyu, where they underwent comprehensive visual and instrumental analysis. 33 shipboard scientists were divided into six teams (Igneous, Alteration, Structural, Geochem, Physical Properties, Paleomag) to describe and analyze the cores. Hole GT2A drilled through the transition between foliated and layered gabbro. The transition zone occurs between 50 and 150 m curation corrected depth (CCD). The top 50 m of Hole GT2A is foliated gabbro whereas the bottom 250 m consists of layered gabbro. Brittle fracture is observed throughout the core. Intensity of alteration vein decreases from the top to the bottom of the hole. On the basis of changes in grain size and/or modal abundance and/or appearance/disappearance of igneous primary mineral(s) five lithological units are defined in Hole GT2A (Unit I to V). The uppermost part of Hole GT2A (Unit I) is dominated by fine-grained granular olivine gabbro intercalated with less dominant medium-grained granular olivine gabbro and rare coarse-grained varitextured gabbro. The lower part of the Hole (Units II, III and V) is dominated by medium-grained olivine gabbro, olivine melagabbro and olivine-bearing gabbro. Modally-graded rhythmic layering with

Mitochondrial C4375T mutation might be a molecular risk factor in a maternal Chinese hypertensive family under haplotype C.

Science.gov (United States)

Chen, Hong; Sun, Min; Fan, Zhen; Tong, Maoqing; Chen, Guodong; Li, Danhui; Ye, Jihui; Yang, Yumin; Zhu, Yongding; Zhu, Jianhua

2017-12-04

Here, we reported a Han Chinese essential hypertensive pedigree based on clinical hereditary and molecular data. To know the molecular basis on this family, mitochondrial genome of one proband from the family was identified through direct sequencing analysis. The age of onset year and affected degree of patients are different in this family. And matrilineal family members carrying C4375T mutation and belong to Eastern Asian halopgroup C. Phylogenetic analysis shows 4375C is highly conservative in 17 species. It is suggested that these mutations might participate in the development of hypertension in this family. And halopgroup C might play a modifying role on the phenotype in this Chinese hypertensive family.

Control-relevant modeling and simulation of a SOFC-GT hybrid system

OpenAIRE

Rambabu Kandepu; Lars Imsland; Christoph Stiller; Bjarne A. Foss; Vinay Kariwala

2006-01-01

In this paper, control-relevant models of the most important components in a SOFC-GT hybrid system are described. Dynamic simulations are performed on the overall hybrid system. The model is used to develop a simple control structure, but the simulations show that more elaborate control is needed.

Actual characteristics study on HTR-10GT coupling with direct gas turbine cycle

International Nuclear Information System (INIS)

Peng Xuechuang; Zhu Shutang; Wang Jie

2005-01-01

HTR-10GT is a testing project coupling the reactor HTR-10 with direct gas turbine cycle. Its thermal cycle can be taken as a closed, recuperated and inter-cooled Brayton cycle. The present study is focused on the thermal cycle performance of HTR-10GT under practical conditions of leakage, pressure losses, etc.. Through thermodynamic analysis, the expression of cycle efficiency for actual thermal cycle is derived. By establishing a physical model with friction loss and leakage, a set of governing equation are constructed based on some reasonable assumptions. The results of actual cycle efficiency have been calculated for different leakage amount at different locations while the effects of leakage under different power level have also been calculated and analyzed. (authors)

Selective propagation of mouse-passaged scrapie prions with long incubation period from a mixed prion population using GT1-7 cells.

Directory of Open Access Journals (Sweden)

Kohtaro Miyazawa

Full Text Available In our previous study, we demonstrated the propagation of mouse-passaged scrapie isolates with long incubation periods (L-type derived from natural Japanese sheep scrapie cases in murine hypothalamic GT1-7 cells, along with disease-associated prion protein (PrPSc accumulation. We here analyzed the susceptibility of GT1-7 cells to scrapie prions by exposure to infected mouse brains at different passages, following interspecies transmission. Wild-type mice challenged with a natural sheep scrapie case (Kanagawa exhibited heterogeneity of transmitted scrapie prions in early passages, and this mixed population converged upon one with a short incubation period (S-type following subsequent passages. However, when GT1-7 cells were challenged with these heterologous samples, L-type prions became dominant. This study demonstrated that the susceptibility of GT1-7 cells to L-type prions was at least 105 times higher than that to S-type prions and that L-type prion-specific biological characteristics remained unchanged after serial passages in GT1-7 cells. This suggests that a GT1-7 cell culture model would be more useful for the economical and stable amplification of L-type prions at the laboratory level. Furthermore, this cell culture model might be used to selectively propagate L-type scrapie prions from a mixed prion population.

Control-relevant modeling and simulation of a SOFC-GT hybrid system

Directory of Open Access Journals (Sweden)

Rambabu Kandepu

2006-07-01

Full Text Available In this paper, control-relevant models of the most important components in a SOFC-GT hybrid system are described. Dynamic simulations are performed on the overall hybrid system. The model is used to develop a simple control structure, but the simulations show that more elaborate control is needed.

Rotor scale model tests for power conversion unit of GT-MHR

Energy Technology Data Exchange (ETDEWEB)

Baxi, C.B.; Daugherty, R.; Shenoy, A. [General Atomics, 3550 General Atomics Court, CA (United States); Kodochigov, N.G.; Belov, S.E. [Experimental Design Bureau of Machine Building, N. Novgorad, RF (United States)

2007-07-01

The gas-turbine modular helium reactor (GT-MHR) combines a modular high-temperature gas-cooled reactor with a closed Brayton gas-turbine cycle power conversion unit (PCU) for thermal to electric energy conversion. The PCU has a vertical orientation and is supported on electromagnetic bearings (EMB). The Rotor Scale Model (RSM) Tests are intended to model directly the control of EMB and rotor-dynamic characteristics of the full-scale GT-MHR Turbo-machine. The objectives of the RSM tests are to: -1) confirm the EMB control system design for the GT-MHR turbo-machine over the full-range of operation, -2) confirm the redundancy and on-line maintainability features that have been specified for the EMBs, -3) provide a benchmark for validation of analytical tools that will be used for independent analyses of the EMB subsystem design, -4) provide experience with the installation, operation and maintenance of EMBs supporting multiple rotors with flexible couplings. As with the full-scale turbo-machine, the RSM will incorporate two rotors that are joined by a flexible coupling. Each of the rotors will be supported on one axial and two radial EMBs. Additional devices, similar in concept to radial EMBs, will be installed to simulate magnetic and/or mechanical forces representing those that would be seen by the exciter, generator, compressors and turbine. Overall, the length of the RSM rotor is about 1/3 that of the full-scale turbo-machine, while the diameter is approximately 1/5 scale. The design and sizing of the rotor is such that the number of critical speeds in the RSM are the same as in the full-scale turbo-machine. The EMBs will also be designed such that their response to rotor-dynamic forces is representative of the full-scale turbo-machine. (authors)

WBP: The wood Brazilian BIG-GT demonstration project

Energy Technology Data Exchange (ETDEWEB)

Carpentieri, E. [Companhia Hidro Eletrica do Sao Francisco, Recife (Brazil)

1993-12-31

Brazil is one of the leading countries in the use of renewable energy. Most of its electricity comes from hydro power, about 200,000 barrels a day of ethanol from sugar cane is used as fuel, around 38% of the pig iron, and 20% of the steel production, uses charcoal as a reducing medium. Located in the tropics, with the sun shining all year round, and with its vast territory, the Country may be regarded as having all the basic conditions to develop a modern Biomass for Electricity industry. The conjunction of those characteristics with, the necessity of developing new energy resources for electricity production in the Northeast of the Country, the results of the studies made by Princeton University, Shell and Chesf, the progress achieved by the BIG-GT (Biomass Integrated Gasification Gas Turbine) technology in Europe, and the organization of the Global Environment Facility (GEF), provided the unique opportunity for the implementation of a commercial demonstration in Brazil. This paper describes the idea, the scope, the technical challenges, and actual status of development of the WBP, a project which aims to demonstrate the commercial viability of the BIG-GT technology. It also highlights, the project management structure, the role of the GEF, World Bank and of the United Nations Development Program (UNDP), and the participation of the Brazilian Federal Government, through the Ministry of Science and Technology (MCT). Finally it describes the Participants (ELETROBRAS, CVRD, CIENTEC, SHELL, and CHESF), their role in the project, and how the group was formed and operates.

WBP/SIGAME the Brazilian BIG-GT demonstration project actual status and perspectives

International Nuclear Information System (INIS)

Carpentier, E.; Silva, A.

1998-01-01

Located in the tropics, with the sun shining all year round, and with its vast territory, Brazil may be regarded as having all the basic conditions to develop a modern Biomass for Electricity industry. Those characteristics together with: (a) the necessity of developing new energy resources for electricity production, in the northeast of the country; (b) the results of studies made by various entities, including CHESF; (c) the progress achieved by the BIG-GT technology; (d) the organisation of the Global Environment Facility (GEF); (e) and the support of the Brazilian government, through the Ministry of Science and Technology (MCT), provided the unique opportunity for the implementation of a commercial demonstration of that technology in Brazil. This paper describes the idea, scope, challenges, lessons, and actual status of development of the WBP/SIGAME project. It also highlights some institutional issues, budget figures, and energy prices. (author)

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation.

Science.gov (United States)

Almeida, Maria R; Macário, Maria C; Ramos, Lina; Baldeiras, Inês; Ribeiro, Maria H; Santana, Isabel

2016-05-01

We and others have reported heterozygous progranulin mutations as an important cause of frontotemporal lobar degeneration (FTLD). It has been identified a complete progranulin deficiency because of a homozygous mutation in a sibling pair with neuronal ceroid lipofuscinosis (NCL). Here, we describe the first case of NCL caused by a homozygous progranulin mutation segregating in a family with neuropathological confirmed FTLD. In this FTLD-NCL family, we detail the clinical phenotype, neuropsychological evaluation and imaging data of our proband harboring a homozygous mutation, c.900_901dupGT, with serum progranulin level (progranulin levels in suspected recessive adult-onset NCL cases. Overall, a more holistic neurologic intervention is needed to guarantee a proper genetic counseling in cases like the present family where two distinct phenotypes are generated according to the individuals' mutation state. Copyright © 2016 Elsevier Inc. All rights reserved.

Clinical utilisation of the "G.T. MSRS", the rating scale for mixed states: 35 cases report.

Science.gov (United States)

Tavormina, Giuseppe

2015-09-01

The knowledge of the clinical features of the mixed states and of the symptoms of the "mixity" of mood disorders is crucial: to mis-diagnose or mis-treat patients with these symptoms may increase the suicide risk and make worse the evolution of mood disorders. The rating scale "G.T. MSRS" has been designed to improve the clinical effectiveness of both psychiatrists and GPs by enabling them to make an early "general" diagnosis of mixed states. This study presents some cases in which the "G.T. MSRS" scale has been used, in order to demonstrate its usefullness.

Clinical Utilisation and Usefullness of the Rating Scale of Mixed States, ("Gt-Msrs"): a Multicenter Study.

Science.gov (United States)

Tavormina, Giuseppe; Franza, Francesco; Stranieri, Giuseppe; Juli, Luigi; Juli, Maria Rosaria

2017-09-01

The rating scale "G.T. MSRS" has been designed to improve the clinical effectiveness of the clinician psychiatrists, by enabling them to make an early "general" diagnosis of mixed states. The knowledge of the clinical features of the mixed states and of the symptoms of the "mixity" of mood disorders is crucial: to mis-diagnose or mis-treat patients with these symptoms may increase the suicide risk and make worse the evolution of mood disorders going to the dysphoric state. This study is the second validation study of the "G.T. MSRS" rating scale, in order to demonstrate its usefullness.

RHO Mutations (p.W126L and p.A346P in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

Directory of Open Access Journals (Sweden)

Satoshi Katagiri

2014-01-01

Full Text Available Purpose. To investigate genetic and clinical features of patients with rhodopsin (RHO mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP. Methods. Whole-exome sequence analysis was performed in ten adRP families. Identified RHO mutations for the cosegregation analysis were confirmed by Sanger sequencing. Ophthalmic examinations were performed to evaluate the RP phenotypes. The impact of the RHO mutation on the rhodopsin conformation was examined by molecular modeling analysis. Results. In two adRP families, we identified two RHO mutations (c.377G>T (p.W126L and c.1036G>C (p.A346P, one of which was novel. Complete cosegregation was confirmed for each mutation exhibiting the RP phenotype in both families. Molecular modeling predicted that the novel mutation (p.W126L might impair rhodopsin function by affecting its conformational transition in the light-adapted form. Clinical phenotypes showed that patients with p.W126L exhibited sector RP, whereas patients with p.A346P exhibited classic RP. Conclusions. Our findings demonstrated that the novel mutation (p.W126L may be associated with the phenotype of sector RP. Identification of RHO mutations is a very useful tool for predicting disease severity and providing precise genetic counseling.

An essential GT motif in the lamin A promoter mediates activation by CREB-binding protein

International Nuclear Information System (INIS)

Janaki Ramaiah, M.; Parnaik, Veena K.

2006-01-01

Lamin A is an important component of nuclear architecture in mammalian cells. Mutations in the human lamin A gene lead to highly degenerative disorders that affect specific tissues. In studies directed towards understanding the mode of regulation of the lamin A promoter, we have identified an essential GT motif at -55 position by reporter gene assays and mutational analysis. Binding of this sequence to Sp transcription factors has been observed in electrophoretic mobility shift assays and by chromatin immunoprecipitation studies. Further functional analysis by co-expression of recombinant proteins and ChIP assays has shown an important regulatory role for CREB-binding protein in promoter activation, which is mediated by the GT motif

Tethyan Anhydrite Preserved in the Lower Ocean Crust of the Samail Ophiolite? Evidence from Oman Drilling Project Holes GT1A and 2A

Science.gov (United States)

Teagle, D. A. H.; Harris, M.; Crispini, L.; Deans, J. R.; Cooper, M. J.; Kelemen, P. B.; Alt, J.; Banerjee, N.; Shanks, W. C., III

2017-12-01

Anhydrite is important in mid-ocean ridge hydrothermal systems because of the high concentrations of calcium and sulfate in modern seawater and anhydrite's retrograde solubility. Because anhydrite hosts many powerful tracers of fluid-rock interactions (87Sr/86Sr, δ18O, δ34S, trace elements, fluid inclusions) it is useful for tracing the chemical evolution of hydrothermal recharge fluids and estimating time-integrated fluid fluxes. Anhydrite can form from heated seawater (>100°C), through water-rock reaction, or by mixing of seawater and hydrothermal fluids. Although abundant in active hydrothermal mounds, and predicted to form from downwelling, warming fluids during convection, anhydrite is rare in drill core from seafloor lavas, sheeted dikes and upper gabbros, with only minor amounts in ODP Holes 504B and 1256D. Because anhydrite can dissolve during weathering, its occurrence in ophiolites is unexpected. Instead, gypsum is present in Macquarie Island lavas and Miocene gypsum fills cavities within the Cretaceous Troodos ore deposits. Thus, the occurrence of numerous anhydrite veins in cores from the gabbroic lower crust of the Samail ophiolite in Oman was unanticipated. To our knowledge, anhydrite in Oman gabbros has not been previously reported. Oman Drilling Project Holes GT1A and GT2A were drilled into the Wadi Gideah section of the Wadi Tayin massif. Both recovered 400 m of continuous core from sections of layered gabbros (GT1) and the foliated-layered gabbro transition (GT2). Anhydrite is present throughout both holes, some in vein networks but more commonly as isolated 1-110 mm veins (>60 mm ave). Anhydrite is mostly the sole vein filling but can occur with greenschist minerals such as epidote, quartz, chlorite and prehnite. Anhydrite commonly exhibits prismatic and bladed textures but can also be capriciously microcrystalline. Though definitive cross cutting relationships are elusive, anhydrite veins cut across some greenschist veins. Anhydrite is

Clinical characteristics, healthcare costs, and resource utilization in hepatitis C vary by genotype.

Science.gov (United States)

Goolsby Hunter, Alyssa; Rosenblatt, Lisa; Patel, Chad; Blauer-Peterson, Cori; Anduze-Faris, Beatrice

2017-05-01

In the United States, approximately 3 million people are infected with hepatitis C virus (HCV). Genotypes of HCV variably affect disease progression and treatment response. However, the relationships between HCV genotypes and liver disease progression, healthcare resource utilization, and healthcare costs have not been fully explored. In this retrospective study of patients with chronic hepatitis C (CHC), healthcare claims from a large US health plan were used to collect data on patient demographic and clinical characteristics. Main outcome measures include healthcare resource utilization (HCRU) and healthcare costs. Linked laboratory data provided genotype and select measures to determine liver disease severity. The sample (mean age 50.6 years, 63.5% male) included 10,331 patients, of whom 79.1% had genotype (GT)1, 12.8% had GT2, and 8.1% had GT3. Descriptive analyses demonstrated variation by HCV genotype in liver and non-liver related comorbidities, liver disease severity, and healthcare costs. The highest percentage of patients with liver-related comorbidities and advanced liver disease was found among those with GT3. Meanwhile, patients with GT2 had lower HCRU and the lowest costs, and patients with GT1 had the highest total all-cause costs. These differences may reflect differing rates of non-liver-related comorbidities and all-cause care. Multivariable analyses showed that genotype was a significant predictor of costs and liver disease severity: compared with patients having GT1, those with GT3 were significantly more likely to have advanced liver disease. Patients with GT2 were significantly less likely to have advanced disease and more likely to have lower all-cause costs. Results may not be generalizable to patients outside the represented commercial insurance plans, and analysis of a prevalent population may underestimate HCRU and costs relative to a sample of treated patients. These results suggest that liver disease progression varies by genotype and

Models development for the fuel design of a reactor GT-MHR

International Nuclear Information System (INIS)

Telesforo R, D.; Francois L, J. L.

2009-10-01

The very high temperature reactor (VHTR) it as arisen as an option for the following reactors generation, due to their characteristics as they are inherent security, modularity and relative low cost. One of the VHTR variants, for its fuel based on prismatic blocks, is the modular reactor cooled by gas GT-MHR that uses a fuel particle of multiple layers called TRISO. These particles are small containers with fuel in their interior and they function as small pressure vessels that retain the fission products. They are absorbed inconstant ing in a cylindrical graphite matrix to form the fuel named Compact; the quantity of fuel inventory is proportional to the packaging fraction on the total volume of the Compact. The reactor consists of a matrix of 12 X 12 graphite hexagonal assemblies contained in a cylinder of 3.5 radio meters and 10.0 meters high. The nucleus has ten axial regions with 36 X 3 fuel assemblies distributed in three rings. For the neutronic modeling of the fuel and the nucleus it was employee the Monte Carlo method, using the code MCNPX (Monte Carlo N-Particle version X) that is a transport code of general purposes that uses this method with a great versatility in the representation of arbitrary three-dimensional configurations and materials configuration. The heterogeneous model of the reactor GT-MHR core was obtained, adjusting the relative parameters at core prototype GT-MHR presented by General Atomics. To prove the model it was employee the fuel formed by TRISO particles, with a nucleus of 150 μm and packaging fraction of 37.55%, with a Uranium-235 mixture, as fissile nuclide, and Thorium-232. To create a simplified model of the nucleus, or homogeneous model, without modeling any particle, it was employee the reactivity-equivalent physical transformation method that captures the effects of the heterogeneity double of the fuel region in two homogeneous equivalent cells, being obtained very good results. (Author)

Ground reaction force estimates from ActiGraph GT3X+ hip accelerations.

Directory of Open Access Journals (Sweden)

Jennifer M Neugebauer

Full Text Available Simple methods to quantify ground reaction forces (GRFs outside a laboratory setting are needed to understand daily loading sustained by the body. Here, we present methods to estimate peak vertical GRF (pGRFvert and peak braking GRF (pGRFbrake in adults using raw hip activity monitor (AM acceleration data. The purpose of this study was to develop a statistically based model to estimate pGRFvert and pGRFbrake during walking and running from ActiGraph GT3X+ AM acceleration data. 19 males and 20 females (age 21.2 ± 1.3 years, height 1.73 ± 0.12 m, mass 67.6 ± 11.5 kg wore an ActiGraph GT3X+ AM over their right hip. Six walking and six running trials (0.95-2.19 and 2.20-4.10 m/s, respectively were completed. Average of the peak vertical and anterior/posterior AM acceleration (ACCvert and ACCbrake, respectively and pGRFvert and pGRFbrake during the stance phase of gait were determined. Thirty randomly selected subjects served as the training dataset to develop generalized equations to predict pGRFvert and pGRFbrake. Using a holdout approach, the remaining 9 subjects were used to test the accuracy of the models. Generalized equations to predict pGRFvert and pGRFbrake included ACCvert and ACCbrake, respectively, mass, type of locomotion (walk or run, and type of locomotion acceleration interaction. The average absolute percent differences between actual and predicted pGRFvert and pGRFbrake were 8.3% and 17.8%, respectively, when the models were applied to the test dataset. Repeated measures generalized regression equations were developed to predict pGRFvert and pGRFbrake from ActiGraph GT3X+ AM acceleration for young adults walking and running. These equations provide a means to estimate GRFs without a force plate.

Mechanistic Characterization of GS-9190 (Tegobuvir), a Novel Nonnucleoside Inhibitor of Hepatitis C Virus NS5B Polymerase▿

Science.gov (United States)

Shih, I-hung; Vliegen, Inge; Peng, Betty; Yang, Huiling; Hebner, Christy; Paeshuyse, Jan; Pürstinger, Gerhard; Fenaux, Martijn; Tian, Yang; Mabery, Eric; Qi, Xiaoping; Bahador, Gina; Paulson, Matthew; Lehman, Laura S.; Bondy, Steven; Tse, Winston; Reiser, Hans; Lee, William A.; Schmitz, Uli; Neyts, Johan; Zhong, Weidong

2011-01-01

GS-9190 (Tegobuvir) is a novel imidazopyridine inhibitor of hepatitis C virus (HCV) RNA replication in vitro and has demonstrated potent antiviral activity in patients chronically infected with genotype 1 (GT1) HCV. GS-9190 exhibits reduced activity against GT2a (JFH1) subgenomic replicons and GT2a (J6/JFH1) infectious virus, suggesting that the compound's mechanism of action involves a genotype-specific viral component. To further investigate the GS-9190 mechanism of action, we utilized the susceptibility differences between GT1b and GT2a by constructing a series of replicon chimeras where combinations of 1b and 2a nonstructural proteins were encoded within the same replicon. The antiviral activities of GS-9190 against the chimeric replicons were reduced to levels comparable to that of the wild-type GT2a replicon in chimeras expressing GT2a NS5B. GT1b replicons in which the β-hairpin region (amino acids 435 to 455) was replaced by the corresponding sequence of GT2a were markedly less susceptible to GS-9190, indicating the importance of the thumb subdomain of the polymerase in this effect. Resistance selection in GT1b replicon cells identified several mutations in NS5B (C316Y, Y448H, Y452H, and C445F) that contributed to the drug resistance phenotype. Reintroduction of these mutations into wild-type replicons conferred resistance to GS-9190, with the number of NS5B mutations correlating with the degree of resistance. Analysis of GS-9190 cross-resistance against previously reported NS5B drug-selected mutations showed that the resistance pattern of GS-9190 is different from other nonnucleoside inhibitors. Collectively, these data demonstrate that GS-9190 represents a novel class of nonnucleoside polymerase inhibitors that interact with NS5B likely through involvement of the β-hairpin in the thumb subdomain. PMID:21746939

Detection of non-ΔGT NCF-1 mutations in chronic granulomatous disease

DEFF Research Database (Denmark)

Jakobsen, Marianne Antonius; Pedersen, Svend Stenvang; Barington, Torben

2009-01-01

to have mutations in NCF-1 encoding p47-phox, which is part of the cytosolic component of NADPH oxidase. More than 94% of these patients share the same mutation, a 2 bp GT deletion in the GTGT dinucleotide repeat in the start of exon 2. The presence of two pseudogenes more than 98% homologous...

Effects of Huang Bai (Phellodendri Cortex and Three Other Herbs on GnRH and GH Levels in GT1–7 and GH3 Cells

Directory of Open Access Journals (Sweden)

Sun Haeng Lee

2016-01-01

Full Text Available The present study was to evaluate the effects of Huang Bai, Zhi Mu, Mai Ya, and Xia Ku Cao on hormone using the GT1–7 and GH3 cells. The GT1–7 and GH3 cell lines were incubated with DW; DMSO; and 30, 100, or 300 μg/mL of one of the four extract solutions in serum-free media for 24 hours. The MTT assay was performed to determine the cytotoxicity of the four herbs. The GT1–7 and GH3 cells were incubated in DW, estradiol (GT1–7 only, or noncytotoxic herb solutions in serum-free medium for 24 hours. A quantitative RT-PCR and western blot were performed to measure the GnRH expression in GT1–7 cells and GH expression in GH3 cells. Huang Bai, Zhi Mu, Xia Ku Cao, and Mai Ya inhibited the GnRH mRNA expression in GT1–7 cells, whereas Huang Bai enhanced GH mRNA expression in GH3 cells. Additionally, Xia Ku Cao inhibited GnRH protein expression in GT1–7 cells and Huang Bai promoted GH protein expression in GH3 cells. The findings suggest that Huang Bai can delay puberty by inhibiting GnRH synthesis in the hypothalamus while also accelerating growth by promoting GH synthesis and secretion in the pituitary.

GT-MHR as economical highly efficient inherently safe modular gas cooled reactor for electric power generation

International Nuclear Information System (INIS)

Baydakov, A.G.; Kodochigov, N.G.; Kuzavkov, N.G.; Vorontsov, V.E.

2001-01-01

The Gas Turbine Modular Helium Reactor (GT-MHR) project is a joint effort of organisations in the Russian Federation co-ordinated by the Ministry on Atomic Energy (MINATOM), General Atomics in the United States, Framatome in France, and Fuji Electric in Japan. This paper describes the structure, objectives and history of the GT-MHR project, as well as the plant design, including plant layout, components and fuel. It summarises the results of evaluations of the design safety characteristics and economics, for both a plutonium fueled single module and a uranium fueled four module plant. The plans and anticipated structure for an international project to construct the plant are also summarised. (author)

Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

Science.gov (United States)

Liu, Yi; Song, Lijie; Ma, Doudou; Lv, Fang; Xu, Xiaojie; Wang, Jianyi; Xia, Weibo; Jiang, Yan; Wang, Ou; Song, Yuwen; Xing, Xiaoping; Asan; Li, Mei

2016-10-01

Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 and analyze the genotype-phenotype association in four Chinese families with OI. We designed a targeted next generation sequencing panel with known fourteen OI-related genes. We applied the approach to detect pathogenic mutations in OI patients and confirmed the mutations with Sanger sequencing and cosegregation analysis. Clinical fractures, bone mineral density (BMD) and the other clinical manifestations were evaluated. We also observed the effects of bisphosphonates in OI patients with WNT1 mutations. Four compound heterozygous mutations (c.110T>C; c.505 G>T; c. 385G>A; c.506 G>A) in WNT1 were detected in three unrelated families. These four mutations had not been reported yet. A recurrent homozygous mutation (c.506dupG) was identified in the other two families. These patients had moderate to severe OI, white to blue sclera, absence of dentinogenesis imperfecta and no brain malformation. We did not observe clear genotype-phenotype correlation in WNT1 mutated OI patients. Though bisphosphonates increased BMD in WNT1 related OI patients, height did not increase and fracture continued. We reported four novel heterozygous variants and confirmed a previous reported WNT1 mutation in four Chinese families with a clinical diagnosis of OI. Our study expanded OI spectrum and confirmed moderate to severe bone fragility induced by WNT1 defects. Copyright © 2016 Elsevier B.V. All rights reserved.

Nuclear closed-cycle gas turbine (HTGR-GT): dry cooled commercial power plant studies

International Nuclear Information System (INIS)

McDonald, C.F.; Boland, C.R.

1979-11-01

Combining the modern and proven power conversion system of the closed-cycle gas turbine (CCGT) with an advanced high-temperature gas-cooled reactor (HTGR) results in a power plant well suited to projected utility needs into the 21st century. The gas turbine HTGR (HTGR-GT) power plant benefits are consistent with national energy goals, and the high power conversion efficiency potential satisfies increasingly important resource conservation demands. Established technology bases for the HTGR-GT are outlined, together with the extensive design and development program necessary to commercialize the nuclear CCGT plant for utility service in the 1990s. This paper outlines the most recent design studies by General Atomic for a dry-cooled commercial plant of 800 to 1200 MW(e) power, based on both non-intercooled and intercooled cycles, and discusses various primary system aspects. Details are given of the reactor turbine system (RTS) and on integrating the major power conversion components in the prestressed concrete reactor vessel

DISTORSI KAPASITAS PERDAGANGAN INTER-REGIONAL IMT-GT Kasus Provinsi Terpilih di Sumatera Indonesia

Directory of Open Access Journals (Sweden)

Benito Rio Avianto

2015-06-01

Full Text Available The objective of the paper was to understand the impact of sub regional economic cooperation, known as the Indonesia-Malaysia-Thailand Growth Triangle (IMT-GT, on trade sector in Indonesia. The approach of research based on export macro information by provinces and commodities. The method used in the analytical framework was a fixed effect method. The regional study covered Nanggroe Aceh Darussalam, North Sumatera, West Sumatera, and Riau provinces, and the commodities involved CPO, coffee and rubber, with 1990-2008 data series. Based on pooled regression, there was a significant impact on export from the four provinces to Malaysia and Thailand for all based years. One might focus on commodity level that, in fact, CPO was the only one commodity that had a significant impact within the IMTGT region. In addition, Thai Bath and Malaysian Ringgit, with respect to GDP for both countries, had significant influenced on export, especially after the IMT-GT endorsed.

Rotary nickel-titanium GT and ProTaper files for root canal shaping by novice operators: a radiographic and micro-computed tomography evaluation.

Science.gov (United States)

Gekelman, Diana; Ramamurthy, Ramya; Mirfarsi, Sahar; Paqué, Frank; Peters, Ove A

2009-11-01

The purpose of this study was to assess canal preparation outcomes in vitro by novice clinicians after standardized teaching sessions. All students received a training session. In experiment 1, twenty canals of mandibular molars were prepared with GT and ProTaper rotaries by 10 students. Standardized radiographs were exposed before and after canal preparation, and canal curvature was measured; canals were assessed for patency and preparation time. In experiment 2, mandibular molars (20 canals) were submitted to microcomputed tomography before and after canal preparation with ProTaper and GT rotaries by 2 dental students. Canals were metrically assessed for changes (volume, surface, cross-sectional shape, transportation) during canal preparation by using software. In experiment 1, canal curvature decreased by 7.6 degrees and 7.8 degrees for GT and ProTaper preparations; there were no broken instruments, and 2 canals lost patency. The time for GT preparation was longer than for ProTaper (29.7 +/- 6.8 vs 19.4 +/- 8.1 minutes, P session.

Design, Operation and Control Modelling of SOFC/GT Hybrid Systems

OpenAIRE

Stiller, Christoph

2006-01-01

This thesis focuses on modelling-based design, operation and control of solid oxide fuel cell (SOFC) and gas turbine (GT) hybrid systems. Fuel cells are a promising approach to high-efficiency power generation, as they directly convert chemical energy to electric work. High-temperature fuel cells such as the SOFC can be integrated in gas turbine processes, which further increases the electrical efficiency to values up to 70%. However, there are a number of obstacles for safe operation of such...

Development of GT-MGR plant power conversion unit design

International Nuclear Information System (INIS)

Kostin, V.I.; Kodochigov, N.G.; Belov, S.E.; Vasyaev, A.V.; Golovko, V.F.; Shenoj, A.

2007-01-01

The General Atomic Company (USA) and the Pilot Design Bureau for Machine-Building (Russia) are involved in the efforts to design the GT-MGR modular helium cooled reactor and the energy conversion unit with the direct gas turbine cycle. The reactor capacity is equal to 600 MW, it is cooled by helium under 7 MPa pressure. The energy conversion unit consists of a gas turbine, a recuperator, preliminary and intermediate coolers, a generator. The turbine shaft rotation frequency is equal to 4400 rotation/minute. One analyzed the alternate designs of the energy conversion unit to choose its configuration [ru

Comparative genomics of the IncA/C multidrug resistance plasmid family.

Science.gov (United States)

Fricke, W Florian; Welch, Timothy J; McDermott, Patrick F; Mammel, Mark K; LeClerc, J Eugene; White, David G; Cebula, Thomas A; Ravel, Jacques

2009-08-01

Multidrug resistance (MDR) plasmids belonging to the IncA/C plasmid family are widely distributed among Salmonella and other enterobacterial isolates from agricultural sources and have, at least once, also been identified in a drug-resistant Yersinia pestis isolate (IP275) from Madagascar. Here, we present the complete plasmid sequences of the IncA/C reference plasmid pRA1 (143,963 bp), isolated in 1971 from the fish pathogen Aeromonas hydrophila, and of the cryptic IncA/C plasmid pRAx (49,763 bp), isolated from Escherichia coli transconjugant D7-3, which was obtained through pRA1 transfer in 1980. Using comparative sequence analysis of pRA1 and pRAx with recent members of the IncA/C plasmid family, we show that both plasmids provide novel insights into the evolution of the IncA/C MDR plasmid family and the minimal machinery necessary for stable IncA/C plasmid maintenance. Our results indicate that recent members of the IncA/C plasmid family evolved from a common ancestor, similar in composition to pRA1, through stepwise integration of horizontally acquired resistance gene arrays into a conserved plasmid backbone. Phylogenetic comparisons predict type IV secretion-like conjugative transfer operons encoded on the shared plasmid backbones to be closely related to a group of integrating conjugative elements, which use conjugative transfer for horizontal propagation but stably integrate into the host chromosome during vegetative growth. A hipAB toxin-antitoxin gene cluster found on pRA1, which in Escherichia coli is involved in the formation of persister cell subpopulations, suggests persistence as an early broad-spectrum antimicrobial resistance mechanism in the evolution of IncA/C resistance plasmids.

Interaction of Zn(II)bleomycin-A2 and Zn(II)peplomycin with a DNA hairpin containing the 5'-GT-3' binding site in comparison with the 5'-GC-3' binding site studied by NMR spectroscopy.

Science.gov (United States)

Follett, Shelby E; Ingersoll, Azure D; Murray, Sally A; Reilly, Teresa M; Lehmann, Teresa E

2017-10-01

Bleomycins are a group of glycopeptide antibiotics synthesized by Streptomyces verticillus that are widely used for the treatment of various neoplastic diseases. These antibiotics have the ability to chelate a metal center, mainly Fe(II), and cause site-specific DNA cleavage. Bleomycins are differentiated by their C-terminal regions. Although this antibiotic family is a successful course of treatment for some types of cancers, it is known to cause pulmonary fibrosis. Previous studies have identified that bleomycin-related pulmonary toxicity is linked to the C-terminal region of these drugs. This region has been shown to closely interact with DNA. We examined the binding of Zn(II)peplomycin and Zn(II)bleomycin-A 2 to a DNA hairpin of sequence 5'-CCAGTATTTTTACTGG-3', containing the binding site 5'-GT-3', and compared the results with those obtained from our studies of the same MBLMs bound to a DNA hairpin containing the binding site 5'-GC-3'. We provide evidence that the DNA base sequence has a strong impact in the final structure of the drug-target complex.

DNMT3B -579 G>T Promoter Polymorphism and the Risk of Gastric Cancer in the West of Iran.

Science.gov (United States)

Ahmadi, Kulsom; Soleimani, Azam; Irani, Shiva; Kiani, Aliasghar; Ghanadi, Kourosh; Noormohamadi, Zahra; Sakinejad, Foroozan

2018-06-01

Many studies have suggested that modulation of DNMT3B function caused by single nucleotide polymorphisms of the DNMT3B promoter region may underlie the susceptibility to various cancers such as tumors of the digestive system. The aim of this study was to investigate the effect of -579 G>T polymorphism in the promoter of the DNMT3B gene on risk of gastric cancer in a population from West Iran. We conducted a case-control study in 100 gastric cancer patients and 112 cancer-free controls to assess the correlation between DNMT3B -579 G>T (rs1569686) polymorphism and the risk of gastric cancer. Detection of genotypes of DNMT3B G39179T polymorphism was analyzed by PCR-RFLP. There was no significant difference in the distribution of DNMT3B -579 G>T genotypes between the cases and controls. However, in the stratified analysis by clinicopathological characteristic types, we found that statistically, the risk susceptibility to gastric cancer was significantly associated with tumor grade II and GT/TT genotype of patients, compared to patients having GG genotype, (OR = 5.4737, 95% CI = 1.4746. 20.3184, P = 0.01). Our study suggested that the -579 T allele may increase the relative risk for the progression of clinicopathological characteristic of tumor grade of gastric cancer patients.

Variants for HDL-C, LDL-C and Triglycerides Identified from Admixture Mapping and Fine-Mapping Analysis in African-American Families

Science.gov (United States)

Shetty, Priya B.; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C.; Kardia, Sharon L.R.; Hanis, Craig L.; Arnett, Donna K.; Hunt, Steven C.; Boerwinkle, Eric; Rao, D.C.; Cooper, R.S.; Risch, Neil; Zhu, Xiaofeng

2015-01-01

Background Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African-Americans. Methods and Results The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides. The analysis was performed in 1,905 unrelated African-American subjects from the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. Regions showing admixture evidence were followed-up with family-based association analysis in 3,556 African-American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age2, sex, body-mass-index, and genome-wide mean ancestry to minimize the confounding due to population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (LDL-C), 8 (HDL-C), 14 (triglycerides) and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52,939 SNPs were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with HDL-C (2 SNPs), LDL-C (4 SNPs) and triglycerides (5 SNPs). The family data was used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions including genes with known associations for cardiovascular disease. Conclusions This study identified regions on chromosomes 7, 8, 14 and 19 and 11 SNPs from the fine-mapping analysis that were associated with HDL-C, LDL-C and triglycerides for further studies of cardiovascular disease in African-Americans. PMID:25552592

Thermal cycle efficiency of the indirect combined HTGR-GT power generation system

Energy Technology Data Exchange (ETDEWEB)

Muto, Yasushi [Japan Atomic Energy Research Inst., Tokai, Ibaraki (Japan). Tokai Research Establishment

1996-02-01

High thermal efficiency of 50% could be expected in a power generation system coupling a high temperature gas-cooled reactor(HTGR) with a closed cycle gas turbine(GT). There are three candidate systems such as a direct cycle(DC), an indirect cycle(ICD) and an indirect combined cycle(IDCC). The IDCC could solve many problems in both the DC and the IDC and consists of a primary circuit and a secondary circuit where a topping cycle is a Brayton cycle and a bottoming cycle is a steam cycle. In this report, the thermal cycle efficiency of the IDCC is examined regarding configurations of components and steam pressure. It has been shown that there are two types of configurations, that is, a perfect cascade type and a semi-cascade one and the latter can be further classified into Case A, Case B and Case C. The conditions achieving the maximum thermal cycle efficiency were revealed for these cases. In addition, the optimum system configurations were proposed considering the thermal cycle efficiency, safety and plant arrangement. (author).

Rotor scale model tests for power conversion unit of GT-MHR

Energy Technology Data Exchange (ETDEWEB)

Baxi, C.B., E-mail: baxicb1130@hotmail.com [General Atomics, P.O. Box 85608, San Diego, CA 92186-5608 (United States); Telengator, A.; Razvi, J. [General Atomics, P.O. Box 85608, San Diego, CA 92186-5608 (United States)

2012-10-15

The gas turbine modular helium reactor (GT-MHR) combines a modular high-temperature gas-cooled reactor (HTGR) nuclear heat source with a closed Brayton gas-turbine cycle power conversion unit (PCU) for thermal to electric energy conversion. The PCU has a vertical orientation and is supported on electromagnetic bearings (EMB). The rotor scale model (RSM) tests are intended to directly model the control of EMB and rotor dynamic characteristics of the full-scale GT-MHR turbo-machine (TM). The objectives of the RSM tests are to: Bullet Confirm the EMB control system design for the GT-MHR turbo machine over the full-range of operation. Bullet Confirm the redundancy and on-line maintainability features that have been specified for the EMBs. Bullet Provide a benchmark for validation of analytical tools that will be used for independent analyses of the EMB subsystem design. Bullet Provide experience with the installation, operation and maintenance of EMBs supporting multiple rotors with flexible couplings. As with the full-scale TM, the RSM incorporates two rotors that are joined by a flexible coupling. Each of the rotors is supported on one axial and two radial EMBs. Additional devices, similar in concept to radial EMBs, are installed to simulate magnetic and/or mechanical forces representing those that would be seen by the exciter, generator, compressors and turbine. Overall, the lengths of the RSM rotor is about 1/3rd that of the full-scale TM, while the diameters are approximately 1/5th scale. The design and sizing of the rotor is such that the number and values of critical speeds in the RSM are the same as in the full-scale TM. The EMBs are designed such that their response to rotor dynamic forces is representative of the full-scale TM. The fabrication and assembly of the RSM was completed at the end of 2008. All start up adjustments were finished in December 2009. To-date the generator rotor has been supported in the EMBs and rotated up to 1800 rpm. Final tests are

Development of teaching material to integrate GT-POWER into combustion courses for IC engine simulations.

Science.gov (United States)

2009-02-01

The main objective of this project was to develop instructional engineering projects that utilize the newly-offered PACE software GT-POWER for engine simulations in combustion-related courses at the Missouri University of Science and Technology. Stud...

GT-SUPREEM: the Georgia Tech summer undergraduate packaging research and engineering experience for minorities

Science.gov (United States)

May, Gary S.

1996-07-01

The Georgia Tech SUmmer Undergraduate Packaging Research and Engineering Experience for Minorities (GT-SUPREEM) is an eight-week summer program designed to attract qualified minority students to pursue graduate degrees in packaging- related disciplines. The program is conducted under the auspices of the Georgia Tech Engineering Research Center in Low-Cost Electronic Packaging, which is sponsored by the National Science Foundation. In this program, nine junior and senior level undergraduate students are selected on a nationwide basis and paired with a faculty advisor to undertake research projects in the Packaging Research CEnter. The students are housed on campus and provided with a $DLR3,000 stipend and a travel allowance. At the conclusion of the program, the students present both oral and written project summaries. It is anticipated that this experience will motivate these students to become applicants for graduate study in ensuring years. This paper will provide an overview of the GT-SUPREEM program, including student research activities, success stories, lessons learned, and overall program outlook.

The effect of S-substitution at the O6-guanine site on the structure and dynamics of a DNA oligomer containing a G:T mismatch.

Directory of Open Access Journals (Sweden)

Elaine Ann Moore

Full Text Available The effect of S-substitution on the O6 guanine site of a 13-mer DNA duplex containing a G:T mismatch is studied using molecular dynamics. The structure, dynamic evolution and hydration of the S-substituted duplex are compared with those of a normal duplex, a duplex with S-substitution on guanine, but no mismatch and a duplex with just a G:T mismatch. The S-substituted mismatch leads to cell death rather than repair. One suggestion is that the G:T mismatch recognition protein recognises the S-substituted mismatch (GS:T as G:T. This leads to a cycle of futile repair ending in DNA breakage and cell death. We find that some structural features of the helix are similar for the duplex with the G:T mismatch and that with the S-substituted mismatch, but differ from the normal duplex, notably the helical twist. These differences arise from the change in the hydrogen-bonding pattern of the base pair. However a marked feature of the S-substituted G:T mismatch duplex is a very large opening. This showed considerable variability. It is suggested that this enlarged opening would lend support to an alternative model of cell death in which the mismatch protein attaches to thioguanine and activates downstream damage-response pathways. Attack on the sulphur by reactive oxygen species, also leading to cell death, would also be aided by the large, variable opening.

Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members.

Science.gov (United States)

Sarafoglou, Kyriakie; Grosse-Redlinger, Krista; Boys, Christopher J; Charnas, Laurence; Otten, Noelle; Broock, Robyn; Nyhan, William L

2010-06-01

Lesch-Nyhan disease is an inborn error of purine metabolism that results from deficiency of the activity of hypoxanthine phosphoribosyltransferase (HPRT). The heterogeneity of clinical phenotypes seen in HPRT deficiency corresponds to an inverse relationship between HPRT enzyme activity and clinical severity. With rare exception, each mutation produces a stereotypical pattern of clinical disease; onset of neurologic symptoms occurs during infancy and is thought to be nonprogressive. To document a family in which a single HPRT gene mutation has led to 3 different clinical and enzymatic phenotypes. Case report. Settings A university-based outpatient metabolic clinic and a biochemical genetics laboratory. Patients Three males (2 infants and their grandfather) from the same family with Lesch-Nyhan variant, including one of the oldest patients with Lesch-Nyhan variant at diagnosis (65 years). Clinical and biochemical observations. Sequencing of 5 family members revealed a novel mutation c.550G>T in exon 7 of the HPRT gene. The considerably variable clinical phenotype corresponded with the variable enzymatic activity in the 3 males, with the grandfather being the most severely affected. The different phenotypes encountered in the enzymatic analysis of cultured fibroblasts from a single mutation in the same family is unprecedented. The significant decrease in the grandfather's HPRT enzymatic activity compared with that of his grandchildren could be a function of the Hayflick Limit Theory of cell senescence.

A thermostable Gloeophyllum trabeum xylanase with potential for the brewing industry.

Science.gov (United States)

Wang, Xiaoyu; Luo, Huiying; Yu, Wangning; Ma, Rui; You, Shuai; Liu, Weina; Hou, Lingyu; Zheng, Fei; Xie, Xiangming; Yao, Bin

2016-05-15

A xylanase gene of glycoside hydrolase family 10, GtXyn10, was cloned from Gloeophyllum trabeum CBS 900.73 and expressed in Pichia pastoris GS115. Purified recombinant GtXyn10 exhibited significant activities to xylan (100.0%), lichenan (11.2%), glucan (15.2%) and p-nitrophenol-β-cellobiose (18.6%), demonstrated the maximum xylanase and glucanase activities at pH 4.5-5.0 and 75°C, retained stability over the pH range of 2.0-7.5 and at 70°C, and was resistant to pepsin and trypsin, most metal ions and SDS. Multiple sequence alignment and modeled-structure analysis identified a unique Gly48 in GtXyn10, and site-directed mutagenesis of Gly48 to Lys improved the temperature optimum up to 80°C. Under simulated mashing conditions, GtXyn10 (80U) reduced the mash viscosity by 12.8% and improved the filtration rate by 31.3%. All these properties above make GtXyn10 attractive for potential applications in the feed and brewing industries. Copyright © 2015 Elsevier Ltd. All rights reserved.

Thermo-economic comparative analysis of gas turbine GT10 integrated with air and steam bottoming cycle

Science.gov (United States)

Czaja, Daniel; Chmielnak, Tadeusz; Lepszy, Sebastian

2014-12-01

A thermodynamic and economic analysis of a GT10 gas turbine integrated with the air bottoming cycle is presented. The results are compared to commercially available combined cycle power plants based on the same gas turbine. The systems under analysis have a better chance of competing with steam bottoming cycle configurations in a small range of the power output capacity. The aim of the calculations is to determine the final cost of electricity generated by the gas turbine air bottoming cycle based on a 25 MW GT10 gas turbine with the exhaust gas mass flow rate of about 80 kg/s. The article shows the results of thermodynamic optimization of the selection of the technological structure of gas turbine air bottoming cycle and of a comparative economic analysis. Quantities are determined that have a decisive impact on the considered units profitability and competitiveness compared to the popular technology based on the steam bottoming cycle. The ultimate quantity that can be compared in the calculations is the cost of 1 MWh of electricity. It should be noted that the systems analyzed herein are power plants where electricity is the only generated product. The performed calculations do not take account of any other (potential) revenues from the sale of energy origin certificates. Keywords: Gas turbine air bottoming cycle, Air bottoming cycle, Gas turbine, GT10

Tumor Necrosis Factor (TNF -308G>A, Nitric Oxide Synthase 3 (NOS3 +894G>T Polymorphisms and Migraine Risk: A Meta-Analysis.

Directory of Open Access Journals (Sweden)

Min Chen

Full Text Available Conflicting data have been reported on the association between tumor necrosis factor (TNF -308G>A and nitric oxide synthase 3 (NOS3 +894G>T polymorphisms and migraine. We performed a meta-analysis of case-control studies to evaluate whether the TNF -308G>A and NOS3 +894G>T polymorphisms confer genetic susceptibility to migraine.We performed an updated meta-analysis for TNF -308G>A and a meta-analysis for NOS3 +894G>T based on studies published up to July 2014. We calculated study specific odds ratios (OR and 95% confidence intervals (95% CI assuming allele contrast, dominant model, recessive model, and co-dominant model as pooled effect estimates.Eleven studies in 6682 migraineurs and 22591 controls for TNF -308G>A and six studies in 1055 migraineurs and 877 controls for NOS3 +894G>T were included in the analysis. Neither indicated overall associations between gene polymorphisms and migraine risk. Subgroup analyses suggested that the "A" allele of the TNF -308G>A variant increases the risk of migraine among non-Caucasians (dominant model: pooled OR = 1.82; 95% CI 1.15 - 2.87. The risk of migraine with aura (MA was increased among both Caucasians and non-Caucasians. Subgroup analyses suggested that the "T" allele of the NOS3 +894G>T variant increases the risk of migraine among non-Caucasians (co-dominant model: pooled OR = 2.10; 95% CI 1.14 - 3.88.Our findings appear to support the hypothesis that the TNF -308G>A polymorphism may act as a genetic susceptibility factor for migraine among non-Caucasians and that the NOS3 +894G>T polymorphism may modulate the risk of migraine among non-Caucasians.

Preclinical and Clinical Resistance Profile of EDP-239, a Novel Hepatitis C Virus NS5A Inhibitor.

Science.gov (United States)

Owens, Christopher M; Brasher, Bradley B; Polemeropoulos, Alex; Rhodin, Michael H J; McAllister, Nicole; Wong, Kelly A; Jones, Christopher T; Jiang, Lijuan; Lin, Kai; Or, Yat Sun

2016-10-01

EDP-239, a potent and selective hepatitis C virus (HCV) nonstructural protein 5A (NS5A) inhibitor developed for the treatment of HCV infection, has been investigated in vitro and in vivo This study sought to characterize genotypic changes in the HCV NS5A sequence of genotype 1 (GT1) replicons and to compare those changes to GT1 viral RNA mutations isolated from clinical trial patients. Resistance selection experiments in vitro using a subgenomic replicon identified resistance-associated mutations (RAMs) at GT1a NS5A amino acid positions 24, 28, 30, 31, and 93 that confer various degrees of resistance to EDP-239. Key RAMs were similarly identified in GT1b NS5A at amino acid positions 31 and 93. Mutations F36L in GT1a and A92V in GT1b do not confer resistance to EDP-239 individually but were found to enhance the resistance of GT1a K24R and GT1b Y93H. RAMs were identified in GT1 patients at baseline or after dosing with EDP-239 that were similar to those detected in vitro Baseline RAMs identified at NS5A position 93 in GT1, or positions 28 or 30 in GT1a only, correlated with a reduced treatment response. RAMs at additional positions were also detected and may have contributed to reduced EDP-239 efficacy. The most common GT1a and GT1b RAMs found to persist up to weeks 12, 24, or 48 were those at NS5A positions 28, 30, 31, 58 (GT1a only), and 93. Those RAMs persisting at the highest frequencies up to weeks 24 or 48 were L31M and Q30H/R for GT1a and L31M and Y93H for GT1b. (This study has been registered at ClinicalTrials.gov under identifier NCT01856426.). Copyright © 2016, American Society for Microbiology. All Rights Reserved.

Økologisk risikovurdering af en genmodificeret glyfosat-tolerant raps GT73 i anmeldelse til godkendelse vedr. import til markedsføring under forordning 1829/2003/EF

DEFF Research Database (Denmark)

Kjellsson, Gøsta; Sørensen, Jesper Givskov; Damgaard, Christian

2012-01-01

"BIOSCIENCE konklusioner vedr. den økolo-giske risikovurdering af den genmodifice-rede GT73-raps i Danmark Den genmodificerede raps, GT73, adskiller sig fra konventionel raps ved at have indsat gener der gør planten tolerant over for herbicidet glyfosat. Rapsen søges kun godkendt til import til f...... to monitor such dispersal of the GMO-plant into cultivated fields and surroundings. Although, not directly an environmental issue, dispersal of the GT73 could result in problems for co-existence with non-GMO-cultivation. "...

Økologisk risikovurdering af en genmodificeret glyfosat-tolerant raps GT73 i anmeldelse til godkendelse vedr. import til markedsføring under Forordning 1829/2003/EF

DEFF Research Database (Denmark)

Damgaard, Christian; Sørensen, Jesper Givskov; Kjellsson, Gøsta

2012-01-01

BIOSCIENCE konklusioner vedr. den økolo-giske risikovurdering af den genmodifice-rede GT73-raps i Danmark Den genmodificerede raps, GT73, adskiller sig fra konventionel raps ved at have indsat gener der gør planten tolerant over for herbicidet glyfosat. Rapsen søges kun godkendt til import til fo...... to monitor such dispersal of the GMO-plant into cultivated fields and surroundings. Although, not directly an environmental issue, dispersal of the GT73 could result in problems for co-existence with non-GMO-cultivation....

Respostas fisiológicas ao déficit hídrico em duas cultivares enxertadas de seringueira ("RRIM 600" e "GT 1" crescidas em campo Physiological responses to water deficit in two young field-grown scion rubber ('RRIM 600' and 'GT 1'

Directory of Open Access Journals (Sweden)

Elenice de Cássia Conforto

2008-06-01

Full Text Available Sob condições de campo, as plantas estão sujeitas a períodos de déficit hídrico no solo e na atmosfera, durante todo o seu ciclo de vida. Foi avaliado o desempenho de duas cultivares enxertadas de seringueira ("RRIM 600" e "GT 1", mantidas na UNESP-IBILCE, em São José do Rio Preto, SP, com e sem suplementação hídrica, a partir da idade de quatro meses. A resistência máxima ao período seco ininterrupto, considerada quando cessou a realização de fotossíntese com ganho líquido, foi de 17 e 20 dias, respectivamente. Trinta e três dias após a suspensão do estresse, a recuperação das trocas gasosas foi bastante similar para as duas cultivares, e apenas a concentração de dióxido de carbono intercelular retornou a valores equivalentes aos dos controles. Apenas o incremento relativo da área foliar, para "GT 1", e da altura, para "RRIM 600", não diferiram aos do grupo controle (P=0,05. As curvas de resposta à luz indicaram, para ambos os clones, decréscimos para a irradiância de compensação e a taxa fotossintética (P=0,05. Embora parcial, a melhor recuperação após o estresse foi verificada para "GT 1".During their life cycle, plants growing under field condition are subject to periods of air and soil water deficits. In this study was evaluated the performance of two scion cultivar of rubber tree ('RRIM 600' and 'GT 1' growing in São José do Rio Preto, SP, with and without water supplementation since the age of 4 months. The maximum resistance to the uninterrupted dry period, considered when net photosynthesis was ceased, was 17 and 20 days, respectively. Thirty-three days later the water stress was ceased, the gas exchange recovery for both cultivars were quite similar, but just the intercellular carbon dioxide concentration returned to similar values of the control group. Only the relative increment of leaf area to 'GT 1', and plant height of 'RRIM 600' was similar to the control group (P=0.05. The light curve

4-alkyl-L-(Dehydro)proline biosynthesis in actinobacteria involves N-terminal nucleophile-hydrolase activity of γ-glutamyltranspeptidase homolog for C-C bond cleavage

Science.gov (United States)

Zhong, Guannan; Zhao, Qunfei; Zhang, Qinglin; Liu, Wen

2017-07-01

γ-Glutamyltranspeptidases (γ-GTs), ubiquitous in glutathione metabolism for γ-glutamyl transfer/hydrolysis, are N-terminal nucleophile (Ntn)-hydrolase fold proteins that share an autoproteolytic process for self-activation. γ-GT homologues are widely present in Gram-positive actinobacteria where their Ntn-hydrolase activities, however, are not involved in glutathione metabolism. Herein, we demonstrate that the formation of 4-Alkyl-L-(dehydro)proline (ALDP) residues, the non-proteinogenic α-amino acids that serve as vital components of many bioactive metabolites found in actinobacteria, involves unprecedented Ntn-hydrolase activity of γ-GT homologue for C-C bond cleavage. The related enzymes share a key Thr residue, which acts as an internal nucleophile for protein hydrolysis and then as a newly released N-terminal nucleophile for carboxylate side-chain processing likely through the generation of an oxalyl-Thr enzyme intermediate. These findings provide mechanistic insights into the biosynthesis of various ALDP residues/associated natural products, highlight the versatile functions of Ntn-hydrolase fold proteins, and particularly generate interest in thus far less-appreciated γ-GT homologues in actinobacteria.

A study on the design concepts of the PBMR and the GT-MHR

International Nuclear Information System (INIS)

Park, Won Seok; Chang, Jong Hwa; Park, Chang Kue

2004-05-01

The major application of the nuclear power in the energy sector has been to produce the electricity. However, a growing concern on the environment and the expected shortage of the fossil energy resources is demanding the expansion of nuclear energy's role in the energy sectors. The High Temperature Gas cooled Reactor (HTGR) has been expected to expand the role of nuclear energy because of its high temperature capability. Especially, the interest on the HTGR has been sharply increased recently related with the production of the hydrogen. About 5 HTGRs had been operated by the end of 1980s. However, all of them had been terminated permanently at the end of 1980s because of their poor system economy and frequent technical troubles. A new concept called MHTGR (Modular High Temperature Gas cooled Reactor) emerged in early of 1990s. Two MHTGR concepts on commercial basis have been developed since then; one is the PBMR (Pebble Bed Modular Reactor) developed by Eskom in South Africa and another is GT-MHR (Gas Turbine Modular High-temperature Reactor) developed by both GA in USA and OKBM in Russia. In this report, the design concepts for the PBMR and GT-MHR were reviewed

An updated meta-analysis of the signal transducer and activator of transcription 4 (STAT4) rs7574865 G/T polymorphism and rheumatoid arthritis risk in an Asian population.

Science.gov (United States)

Jiang, X; Zhou, Z; Zhang, Y; Yang, H; Ren, K

2014-01-01

Signal transducer and activator of transcription 4 (STAT4) transmits signals induced by the cytokines interleukin (IL)-12, IL-23, and interferon (IFN)-γ, which play an important role in the development of rheumatoid arthritis (RA). Studies have shown conflicting results concerning the association between the rs7574865 G/T polymorphism in the STAT4 gene and RA in an Asian population. We have performed a meta-analysis to examine this relationship. We searched PubMed and WanFang databases for all papers published up to 5 October 2013. Eight case-control studies with 6029 cases and 4685 controls were retrieved based on the search criteria for RA susceptibility related to the STAT4 rs7574865 G/T polymorphism. Risk ratios (RRs) and 95% confidence intervals (CIs) were used to assess the strength of this association. Publication bias was assessed using Begg's test. A significant association was found between the STAT4 rs7574865 G/T polymorphism and RA risk (e.g. GG+GT vs. TT: RR 0.96, 95% CI 0.95-0.97; GG+TT vs. GT: RR 0.94, 95% CI 0.91-0.97). Subgroup analysis of rheumatoid factor (RF) status revealed a protective relationship between the STAT4 rs7574865 G/T polymorphism and RF(+)/RF(-) RA risk. A similar relationship was detected in the anti-cyclic citrullinated peptide (CCP) status subgroup. No clear evidence of publication bias was detected in the overall analysis. Our study indicates that the STAT4 rs7574865 G/T polymorphism was significantly associated with a decreased RA risk in an Asian population.

FSV experience in support of the GT-MHR reactor physics, fuel performance, and graphite

International Nuclear Information System (INIS)

Baxter, A.M.; McEachern, D.; Hanson, D.L.; Vollman, R.E.

1994-11-01

The Fort St. Vrain (FSV) power plant was the most recent operating graphite-moderated, helium-cooled nuclear power plant in the United States. Many similarities exist between the FSV design and the current design of the GT-MHR. Both designs use graphite as the basic building blocks of the core, as structural material, in the reflectors, and as a neutron moderator. Both designs use hexagonal fuel elements containing cylindrical fuel rods with coated fuel particles. Helium is the coolant and the power densities vary by less than 5%. Since material and geometric properties of the GT-MHR core am very similar to the FSV core, it is logical to draw upon the FSV experience in support of the GT-MHR design. In the Physics area, testing at FSV during the first three cycles of operation has confirmed that the calculational models used for the core design were very successful in predicting the core nuclear performance from initial cold criticality through power operation and refueling. There was excellent agreement between predicted and measured initial core criticality and control rod positions during startup. Measured axial flux distributions were within 5% of the predicted value at the peak. The isothermal temperature coefficient at zero power was in agreement within 3%, and even the calculated temperature defect over the whole operating range for cycle 3 was within 8% of the measured defect. In the Fuel Performance area, fuel particle coating performance, and fission gas release predictions and an overall plateout analysis were performed for decommissioning purposes. A comparison between predicted and measured fission gas release histories of Kr-85m and Xe-138 and a similar comparison with specific circulator plateout data indicated good agreement between prediction and measured data. Only I-131 plateout data was overpredicted, while Cs-137 data was underpredicted

Tumor Necrosis Factor (TNF) –308G>A, Nitric Oxide Synthase 3 (NOS3) +894G>T Polymorphisms and Migraine Risk: A Meta-Analysis

Science.gov (United States)

Chen, Min; Tang, Wenjing; Hou, Lei; Liu, Ruozhuo; Dong, Zhao; Han, Xun; Zhang, Xiaofei; Wan, Dongjun; Yu, Shengyuan

2015-01-01

Background and Objective Conflicting data have been reported on the association between tumor necrosis factor (TNF) –308G>A and nitric oxide synthase 3 (NOS3) +894G>T polymorphisms and migraine. We performed a meta-analysis of case-control studies to evaluate whether the TNF –308G>A and NOS3 +894G>T polymorphisms confer genetic susceptibility to migraine. Method We performed an updated meta-analysis for TNF –308G>A and a meta-analysis for NOS3 +894G>T based on studies published up to July 2014. We calculated study specific odds ratios (OR) and 95% confidence intervals (95% CI) assuming allele contrast, dominant model, recessive model, and co-dominant model as pooled effect estimates. Results Eleven studies in 6682 migraineurs and 22591 controls for TNF –308G>A and six studies in 1055 migraineurs and 877 controls for NOS3 +894G>T were included in the analysis. Neither indicated overall associations between gene polymorphisms and migraine risk. Subgroup analyses suggested that the “A” allele of the TNF –308G>A variant increases the risk of migraine among non-Caucasians (dominant model: pooled OR = 1.82; 95% CI 1.15 – 2.87). The risk of migraine with aura (MA) was increased among both Caucasians and non-Caucasians. Subgroup analyses suggested that the “T” allele of the NOS3 +894G>T variant increases the risk of migraine among non-Caucasians (co-dominant model: pooled OR = 2.10; 95% CI 1.14 – 3.88). Conclusions Our findings appear to support the hypothesis that the TNF –308G>A polymorphism may act as a genetic susceptibility factor for migraine among non-Caucasians and that the NOS3 +894G>T polymorphism may modulate the risk of migraine among non-Caucasians. PMID:26098763

The C1q complement family of synaptic organizers: not just complementary.

Science.gov (United States)

Yuzaki, Michisuke

2017-08-01

Molecules that regulate formation, differentiation, and maintenance of synapses are called synaptic organizers. Recently, various 'C1q family' proteins have been shown to be released from neurons, and serve as a new class of synaptic organizers. Cbln1 and C1ql1 proteins regulate the formation and maintenance of parallel fiber-Purkinje cell and climbing fiber-Purkinje cell synapses, respectively, in the cerebellum. Cbln1 also modulates the function of postsynaptic delta2 glutamate receptors to regulate synaptic plasticity. C1ql2 and C1ql3, released from mossy fibers, determine the synaptic localization of postsynaptic kainate receptors in the hippocampus. C1ql3 also regulates the formation of synapses between the basolateral amygdala and the prefrontal cortex. These findings indicate the diverse functions of C1q family proteins in various brain regions. Copyright © 2017 Elsevier Ltd. All rights reserved.

Evolution of the Power Conversion Unit Design of the GT-MHR

International Nuclear Information System (INIS)

Baxi, C.B.; Perez, E.; Shenoy, A.; Kostin, V.I.; Kodochigov, N.G.; Vasyaev, A.V.; Belov, S.E.; Golovko, V.F.

2006-01-01

General Atomics in the USA and Experimental Design Bureau of Machine Building (OKBM) in the Russian Federation are jointly developing a gas turbine modular helium reactor (GT-MHR). The 600 MW(t) reactor is cooled by helium at a pressure of 7 MPa. The power conversion unit (PCU) uses the reactor outlet temperature of 850 deg C in a direct Brayton cycle to achieve an efficiency of about 48%. The PCU consists of a gas turbine, a recuperator, a pre-cooler, a low-pressure compressor, an inter-cooler, and a high-pressure compressor. The turbo machine (TM), including the generator, is mounted on a single vertical shaft. The TM rotates at a speed of 4400 rpm. The asynchronous generator is connected to the turbine by a flexible coupling. The required grid frequency is achieved by a converter. All PCU components are enclosed in a single vessel. TM uses radial and axial electromagnetic bearings (EMB) for support. Catcher bearings (CB) are provided as redundant support for the TM rotor in case of EMBs failure. These design features were determined after a comprehensive study carried out over the last 10 years. This paper describes the evolution of the current PCU design and justification for the choices. (authors)

Familial isolated primary hyperparathyroidism/hyperparathyroidism-jaw tumour syndrome caused by germline gross deletion or point mutations of CDC73 gene in Chinese.

Science.gov (United States)

Kong, Jing; Wang, Ou; Nie, Min; Shi, Jie; Hu, Yingying; Jiang, Yan; Li, Mei; Xia, Weibo; Meng, Xunwu; Xing, Xiaoping

2014-08-01

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) and familial isolated primary hyperparathyroidism (FIHP) are two subtypes of familial primary hyperparathyroidism, which are rarely reported in Chinese population. Here, we reported three FIHP families and one HPT-JT family with long-term follow-up and genetic analysis. A total of 22 patients, from four FIHP/HPT-JT families of Chinese descent, were recruited and genomic DNA was extracted from their peripheral blood lymphocytes. Direct sequencing for MEN1, CDC73, CASR gene was conducted. Reverse transcription PCR (RT-PCR) and quantitative real-time PCR (qRT-PCR) were used to study the effect of splice site mutations and gross deletion mutations. Immunohistochemistry was performed to analyse parafibromin expression in parathyroid tumours. Genotype-phenotype correlations were assessed through clinical characteristics and long-term follow-up data. Genetic analysis revealed four CDC73 germline mutations that were responsible for the four kindreds, including two novel point mutation (c.157 G>T and IVS3+1 G>A), one recurrent point mutation (c.664 C>T) and one deletion mutation (c.307+?_513-?del exons 4, 5, 6). RT-PCR confirmed that IVS3+1 G>A generated an aberrant transcript with exon3 deletion. Immunohistochemical analysis demonstrated reduced nuclear parafibromin expression in tumours supporting the pathogenic effects of these mutations. This study supplies information on mutations and phenotypes of HPT-JT/FIHP syndrome in Chinese. Screening for gross deletion and point mutations of the CDC73 gene is necessary in susceptible subjects. © 2014 John Wiley & Sons Ltd.

Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative.

Science.gov (United States)

Wood, Marie E; Kadlubek, Pamela; Pham, Trang H; Wollins, Dana S; Lu, Karen H; Weitzel, Jeffrey N; Neuss, Michael N; Hughes, Kevin S

2014-03-10

Family history of cancer (CFH) is important for identifying individuals to receive genetic counseling/testing (GC/GT). Prior studies have demonstrated low rates of family history documentation and referral for GC/GT. CFH quality and GC/GT practices for patients with breast (BC) or colon cancer (CRC) were assessed in 271 practices participating in the American Society of Clinical Oncology Quality Oncology Practice Initiative in fall 2011. A total of 212 practices completed measures regarding CFH and GC/GT practices for 10,466 patients; 77.4% of all medical records reviewed documented presence or absence of CFH in first-degree relatives, and 61.5% of medical records documented presence or absence of CFH in second-degree relatives, with significantly higher documentation for patients with BC compared with CRC. Age at diagnosis was documented for all relatives with cancer in 30.7% of medical records (BC, 45.2%; CRC, 35.4%; P ≤ .001). Referall for GC/GT occurred in 22.1% of all patients with BC or CRC. Of patients with increased risk for hereditary cancer, 52.2% of patients with BC and 26.4% of those with CRC were referred for GC/GT. When genetic testing was performed, consent was documented 77.7% of the time, and discussion of results was documented 78.8% of the time. We identified low rates of complete CFH documentation and low rates of referral for those with BC or CRC meeting guidelines for referral among US oncologists. Documentation and referral were greater for patients with BC compared with CRC. Education and support regarding the importance of accurate CFH and the benefits of proactive high-risk patient management are clearly needed.

Resistance Analyses of Japanese Hepatitis C-Infected Patients Receiving Sofosbuvir or Ledipasvir/Sofosbuvir Containing Regimens in Phase 3 Studies.

Science.gov (United States)

Mizokami, M; Dvory-Sobol, H; Izumi, N; Nishiguchi, S; Doehle, B; Svarovskaia, E S; De-Oertel, S; Knox, S; Brainard, D M; Miller, M D; Mo, H; Sakamoto, N; Takehara, T; Omata, M

2016-10-01

High rates of sustained virologic response (SVR) has been achieved in Japanese patients with chronic hepatitis C virus (HCV) genotype (GT)1 and GT2 infection treated with ledipasvir/sofosbuvir (LDV/SOF) ±ribavirin (RBV) and SOF+RBV, respectively. We evaluated the effect of baseline HCV NS5A and NS5B resistance-associated variants (RAVs) on treatment outcome and characterized variants at virologic failure. Baseline deep sequencing for NS5A and NS5B genes was performed for all GT1 patients. Deep sequencing of NS5A (GT1 only) and NS5B (GT1 and GT2) was performed for patients who failed treatment or discontinued early with detectable HCV RNA (i.e., >25 IU/mL). In patients with HCV GT1 infection, 22.3% (GT1a: 2/11; GT1b: 74/330) had ≥1 baseline NS5A RAV. The most frequent NS5A RAVs in GT1b were Y93H (17.9%, 59/330) and L31M (2.4%, 8/330). Despite the presence of NS5A RAVs at baseline, 100% and 97% of patients achieved SVR12, compared with 100% and 99% for those with no NS5A RAVs with LDV/SOF and LDV/SOF+RBV, respectively. All patients with NS5B RAVs at baseline achieved SVR12. Of the 153 patients with GT2 infection (GT2a 60.1%, GT2b 39.9%), 3.3% (5/153) experienced viral relapse. No S282T or other NS5B RAVs were detected at baseline or relapse; no change in susceptibility to SOF or RBV was observed at relapse. In conclusion, LDV/SOF and SOF+RBV demonstrate a high barrier to resistance in Japanese patients with HCV GT1 and GT2 infection. The presence of baseline NS5A RAVs did not impact treatment outcome in GT1 Japanese patients treated with LDV/SOF for 12 weeks. © 2016 John Wiley & Sons Ltd.

Metamorphism Near the Dike-Gabbro Transition in the Ocean Crust Based on Preliminary Results from Oman Drilling Project Hole GT3A

Science.gov (United States)

Manning, C. E.; Nozaka, T.; Harris, M.; Michibayashi, K.; de Obeso, J. C.; D'Andres, J.; Lefay, R.; Leong, J. A. M.; Zeko, D.; Kelemen, P. B.; Teagle, D. A. H.

2017-12-01

Oman Drilling Project Hole GT3A intersected 400 m of altered basaltic dikes, gabbros, and diorites. The 100% recovery affords an unprecedented opportunity to study metamorphism and hydrothermal alteration near the dike-gabbro transition in the ocean crust. Hydrothermal alteration is ubiquitous; all rocks are at least moderately altered, and mean alteration intensity is 54%. The earliest alteration in all rock types is background replacement of igneous minerals, some of which occurred at clinopyroxene amphibolite facies, as indicated by brown-green hornblende, calcic plagioclase, and secondary cpx. In addition, background alteration includes greenschist, subgreenschist, and zeolite facies minerals. More extensive alteration is locally observed in halos around veins, patches, and zones related to deformation. Dense networks of hydrothermal veins record a complex history of fluid-rock alteration. During core description, 10,727 individual veins and 371 vein networks were logged in the 400 m of Hole GT3A. The veins displayed a range of textures and connectivities. The total density of veins in Hole GT3A is 26.8 veins m-1. Vein density shows no correlation with depth, but may be higher near dike margins and faults. Vein minerals include amphibole, epidote, quartz, chlorite, prehnite, zeolite (chiefly laumontite) and calcite in a range of combinations. Analysis of crosscutting relations leads to classification of 4 main vein types. In order of generally oldest to youngest these are: amphibole, quartz-epidote-chlorite (QEC), zeolite-prehnite (ZP), and calcite. QEC and ZP vein types may contain any combination of minerals except quartz alone; veins filled only by quartz may occur at any relative time. Macroscopic amphibole veins are rare and show no variation with depth. QEC vein densities appear to be higher (>9.3 veins m-1) in the upper 300 m of GT3A, where dikes predominate. In contrast, there are 5.5 veins m-1 at 300-400 m, where gabbros and diorites are abundant. ZP

Future emissions pathways consistent with limiting warming to 1.5°C

Science.gov (United States)

Millar, R.; Fuglestvedt, J. S.; Grubb, M.; Rogelj, J.; Skeie, R. B.; Friedlingstein, P.; Forster, P.; Frame, D. J.; Pierrehumbert, R.; Allen, M. R.

2016-12-01

The stated aim of the 2015 UNFCCC Paris Agreement is `holding the increase in global average temperature to well below 2°C above pre-industrial levels and to pursue efforts to limit temperature increases to 1.5°C'. We show that emissions reductions proportional to those achieved in an ambitious mitigation scenario, RCP2.6, but beginning in 2017, give a median estimated peak warming of 1.5°C, with a likely (66% probability) range of uncertainty of 1.2-2.0°C. Such a scenario would be approximately consistent with the most ambitious interpretation of the 2030 emissions pledges, but requires reduction rates exceeding 0.3GtC/yr/yr after 2030. A steady reduction at less than half this rate would achieve the same temperature outcome if initiated in 2020. Limiting total CO2 emissions after 2015 to 200GtC would limit future warming to likely less than 0.6°C above present, consistent with 1.5°C above pre-industrial, based on the distribution of responses of the CMIP5 Earth System, but the CMIP5 simulations do not correspond to scenarios that aim to limit warming to such low levels. If future CO2 emissions are successfully adapted to the emerging climate response so as to limit warming in 2100 to 0.6°C above present, and non-CO2 emissions follow the ambitious RCP2.6 scenario, then we estimate that resulting CO2 emissions will unlikely be restricted to less than 250GtC given current uncertainties in climate system response, although still-poorly-modelled carbon cycle feedbacks, such as release from permafrost, may encroach on this budget. Even under a perfectly successful adaptive mitigation regime, emissions consistent with limiting warming to 0.6°C above present are unlikely to be greater than 500GtC.These estimates suggest the 1.5°C goal may not yet be geophysically insurmountable but will nevertheless require, at minimum, the full implementation of the most ambitious interpretation of the Paris pledges followed by accelerated and more fundamental changes in our

A family of cell-adhering peptides homologous to fibrinogen C-termini

International Nuclear Information System (INIS)

Levy-Beladev, Liron; Levdansky, Lilia; Gaberman, Elena; Friedler, Assaf; Gorodetsky, Raphael

2010-01-01

Research highlights: → Cell-adhesive sequences homologous to fibrinogen C-termini exist in other proteins. → The extended homologous cell-adhesive C-termini peptides family is termed Haptides. → In membrane-like environment random coiled Haptides adopt a helical conformation. → Replacing positively charged residues with alanine reduces Haptides activity. -- Abstract: A family of cell-adhesive peptides homologous to sequences on different chains of fibrinogen was investigated. These homologous peptides, termed Haptides, include the peptides Cβ, preCγ, and CαE, corresponding to sequences on the C-termini of fibrinogen chains β, γ, and αE, respectively. Haptides do not affect cell survival and rate of proliferation of the normal cell types tested. The use of new sensitive assays of cell adhesion clearly demonstrated the ability of Haptides, bound to inert matrices, to mediate attachment of different matrix-dependent cell types including normal fibroblasts, endothelial, and smooth muscle cells. Here we present new active Haptides bearing homologous sequences derived from the C-termini of other proteins, such as angiopoietin 1 and 2, tenascins C and X, and microfibril-associated glycoprotein-4. The cell adhesion properties of all the Haptides were found to be associated mainly with their 11 N-terminal residues. Mutated preCγ peptides revealed that positively charged residues account for their attachment effect. These results suggest a mechanism of direct electrostatic interaction of Haptides with the cell membrane. The extended Haptides family may be applied in modulating adhesion of cells to scaffolds for tissue regeneration and for enhancement of nanoparticulate transfection into cells.

Step-parent adoption gone wrong: GT v CT [2015] 3 ALL SA 631 (GJ ...

African Journals Online (AJOL)

Because of the immense impact on a child, the rescission of an adoption order has to be handled with kid gloves. In GT v CT [2015] 3 ALL SA 631 (GJ) two children had been legally adopted by their stepfather while the Child Care Act was in operation. After the implementation of the Children's Act 38 of 2005, however, ...

Estrogen enhances expression of the complement C5a receptor and the C5a-agonist evoked calcium influx in hormone secreting neurons of the hypothalamus.

Science.gov (United States)

Farkas, Imre; Varju, Patricia; Szabo, Emese; Hrabovszky, Erik; Okada, Noriko; Okada, Hidechika; Liposits, Zsolt

2008-01-01

In the present study we examined presence of the complement C5a receptor (C5aR) in hypothalamic neurosecretory neurons of the rodent brain and effect of estrogen on C5aR expression. Whole cell patch clamp measurements revealed that magnocellular neurons in the supraoptic and paraventricular nuclei of hypothalamic slices of the rats responded to the C5aR-agonist PL37-MAP peptide with calcium ion current pulses. Gonadotropin-releasing hormone (GnRH) producing neurons in slices of the preoptic area of the mice also reacted to the peptide treatment with inward calcium current. PL37-MAP was able to evoke the inward ion current of GnRH neurons in slices from ovariectomized animals. The amplitude of the inward pulses became higher in slices obtained from 17beta-estradiol (E2) substituted mice. Calcium imaging experiments demonstrated that PL37-MAP increased the intracellular calcium content in the culture of the GnRH-producing GT1-7 cell line in a concentration-dependent manner. Calcium imaging also showed that E2 pretreatment elevated the PL37-MAP evoked increase of the intracellular calcium content in the GT1-7 cells. The estrogen receptor blocker Faslodex in the medium prevented the E2-evoked increase of the PL37-MAP-triggered elevation of the intracellular calcium content in the GT1-7 cells demonstrating that the effect of E2 might be related to the presence of estrogen receptor. Real-time PCR experiments revealed that E2 increased the expression of C5aR mRNA in GT1-7 neurons, suggesting that an increased C5aR synthesis could be involved in the estrogenic modulation of calcium response. These data indicate that hypothalamic neuroendocrine neurons can integrate immune and neuroendocrine functions. Our results may serve a better understanding of the inflammatory and neurodegeneratory diseases of the hypothalamus and the related neuroendocrine and autonomic compensatory responses.

A study on the design concepts of the PBMR and the GT-MHR

Energy Technology Data Exchange (ETDEWEB)

Park, Won Seok; Chang, Jong Hwa; Park, Chang Kue

2004-05-01

The major application of the nuclear power in the energy sector has been to produce the electricity. However, a growing concern on the environment and the expected shortage of the fossil energy resources is demanding the expansion of nuclear energy's role in the energy sectors. The High Temperature Gas cooled Reactor (HTGR) has been expected to expand the role of nuclear energy because of its high temperature capability. Especially, the interest on the HTGR has been sharply increased recently related with the production of the hydrogen. About 5 HTGRs had been operated by the end of 1980s. However, all of them had been terminated permanently at the end of 1980s because of their poor system economy and frequent technical troubles. A new concept called MHTGR (Modular High Temperature Gas cooled Reactor) emerged in early of 1990s. Two MHTGR concepts on commercial basis have been developed since then; one is the PBMR (Pebble Bed Modular Reactor) developed by Eskom in South Africa and another is GT-MHR (Gas Turbine Modular High-temperature Reactor) developed by both GA in USA and OKBM in Russia. In this report, the design concepts for the PBMR and GT-MHR were reviewed.

Comparison of Yamax pedometer and GT3X accelerometer steps in a free-living sample

Science.gov (United States)

Our objective was to compare steps detected by the Yamax pedometer (PEDO) versus the GT3X accelerometer (ACCEL) in free-living adults. Daily PEDO and ACCEL steps were collected from a sample of 23 overweight and obese participants (18 females; mean +/- sd: age = 52.6 +/- 8.4 yr.; body mass index = 3...

Therapeutic potential of and treatment with boceprevir/telaprevir-based triple-therapy in HIV/chronic hepatitis C co-infected patients in a real-world setting.

Science.gov (United States)

Mandorfer, Mattias; Payer, Berit A; Niederecker, Alexander; Lang, Gerold; Aichelburg, Maximilian C; Strassl, Robert; Boesecke, Christoph; Rieger, Armin; Trauner, Michael; Peck-Radosavljevic, Markus; Reiberger, Thomas

2014-05-01

The aim of this study was to assess the therapeutic potential of telaprevir (TPV)/boceprevir (BOC)-based triple-therapy in a complete cohort of HIV/chronic hepatitis C co-infected patients (HIV/HCV). Moreover, a case series of four HIV/HCV genotype (HCV-GT)1 patients with rapid virologic response (RVR), who received only 28 weeks of BOC-based triple-therapy (BOCW28), was reported. 290/440 HIV-positive patients with positive HCV serology had at least one visit during the past 2 years, 142/290 had target detectable HCV-RNA with 64% (82/142) carrying HCV-GT1. While 18 HIV/HCV-GT1 displayed contraindications, 45% (64/142) of HIV/HCV were eligible for triple-therapy. Insufficiently controlled HIV-infection despite combined antiretroviral therapy (cART) (HIV-RNA treatment uptake rates (39% (25/64)) during the first 2 years of triple-therapy availability suggest that its benefit in HIV/HCV co-infected patients might fall short of expectations. Modification of cART or TPV dose adjustment would have been necessary in 61% and 84% of HIV/HCV-GT1 on cART eligible for triple-therapy using TPV and BOC, respectively, suggesting that drug-drug interactions with cART complicate management in the majority of patients. All four BOCW28 patients achieved a sustained virologic response. Prospective studies are necessary to validate our observations on the shortening of treatment duration in HIV/HCV-GT1 with RVR.

Association of heme oxygenase-1 GT-repeat polymorphism with blood pressure phenotypes and its relevance to future cardiovascular mortality risk: an observation based on arsenic-exposed individuals.

Science.gov (United States)

Wu, Meei-Maan; Chiou, Hung-Yi; Chen, Chi-Ling; Hsu, Ling-I; Lien, Li-Ming; Wang, Chih-Hao; Hsieh, Yi-Chen; Wang, Yuan-Hung; Hsueh, Yu-Mei; Lee, Te-Chang; Cheng, Wen-Fang; Chen, Chien-Jen

2011-12-01

Heme oxygenase (HO)-1 is up-regulated as a cellular defense responding to stressful stimuli in experimental studies. A GT-repeat length polymorphism in the HO-1 gene promoter was inversely correlated to HO-1 induction. Here, we reported the association of GT-repeat polymorphism with blood pressure (BP) phenotypes, and their interaction on cardiovascular (CV) mortality risk in arsenic-exposed cohorts. Associations of GT-repeat polymorphism with BP phenotypes were investigated at baseline in a cross-sectional design. Effect of GT-repeat polymorphism on CV mortality was investigated in a longitudinal design stratified by hypertension. GT-repeat variants were grouped by S (accounting for CV covariates. Totally, 894 participants were recruited and analyzed. At baseline, carriers with HO-1 S alleles had lower diastolic BP (L/S genotypes, P = 0.014) and a lower possibility of being hypertensive (L/S genotypes, P = 0.048). After follow-up, HO-1 S allele was significantly associated with a reduced CV risk in hypertensive participants [relative mortality ratio (RMR) 0.27 (CI 0.11, 0.69), P = 0.007] but not in normotensive. Hypertensive participants without carrying the S allele had a 5.23-fold increased risk [RMR 5.23 (CI 1.99, 13.69), P = 0.0008] of CV mortality compared with normotensive carrying the S alleles. HO-1 short GT-repeat polymorphism may play a protective role in BP regulation and CV mortality risk in hypertensive individuals against environmental stressors. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

Science.gov (United States)

Ijaz, Sadaqat; Zahoor, Muhammad Yasir; Imran, Muhammad; Afzal, Sibtain; Bhinder, Munir A; Ullah, Ihsan; Cheema, Huma Arshad; Ramzan, Khushnooda; Shehzad, Wasim

2016-03-01

Hereditary tyrosinemia type 1 (HT1) is a rare inborn error of tyrosine catabolism with a worldwide prevalence of one out of 100,000 live births. HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, caused by recessive mutations in the FAH gene. We present here the first report on identification of FAH mutations in HT1 patients from Pakistan with a novel one. Three Pakistani families, each having one child affected with HT1, were enrolled over a period of 1.5 years. Two of the affected children had died as they were presented late with acute form. All regions of the FAH gene spanning exons and splicing sites were amplified by polymerase chain reaction (PCR) and mutation analysis was carried out by direct sequencing. Results of sequencing were confirmed by restriction fragment length polymorphism (PCR-RFLP) analysis. Three different FAH mutations, one in each family, were found to co-segregate with the disease phenotype. Two of these FAH mutations have been known (c.192G>T and c.1062+5G>A [IVS12+5G>A]), while c.67T>C (p.Ser23Pro) was a novel mutation. The novel variant was not detected in any of 120 chromosomes from normal ethnically matched individuals. Most of the HT1 patients die before they present to hospitals in Pakistan, as is indicated by enrollment of only three families in 1.5 years. Most of those with late clinical presentation do not survive due to delayed diagnosis followed by untimely treatment. This tragic condition advocates the establishment of expanded newborn screening program for HT1 within Pakistan.

Identification and characterization of a novel Cut family cDNA that encodes human copper transporter protein CutC

International Nuclear Information System (INIS)

Li Jixi; Ji Chaoneng; Chen Jinzhong; Yang Zhenxing; Wang Yijing; Fei, Xiangwei; Zheng Mei; Gu Xing; Wen Ge; Xie Yi; Mao Yumin

2005-01-01

Copper is an essential heavy metal trace element that plays important roles in cell physiology. The Cut family was associated with the copper homeostasis and involved in several important metabolisms, such as uptake, storage, delivery, and efflux of copper. In this study, a novel Cut family cDNA was isolated from the human fetal brain library, which encodes a 273 amino acid protein with a molecular mass of about 29.3 kDa and a calculated pI of 8.17. It was named hCutC (human copper transporter protein CutC). The ORF of hCutC gene was cloned into pQE30 vector and expressed in Escherichia coli M15. The secreted hCutC protein was purified to a homogenicity of 95% by using the Ni-NTA affinity chromatography. RT-PCR analysis showed that the hCutC gene expressed extensively in human tissues. Subcellular location analysis of hCutC-EGFP fusion protein revealed that hCutC was distributed to cytoplasm of COS-7 cells, and both cytoplasm and nucleus of AD293 cells. The results suggest that hCutC may be one shuttle protein and play important roles in intracellular copper trafficking

Structural insight into gene transcriptional regulation and effector binding by the Lrp/AsnC family

NARCIS (Netherlands)

Thaw, P.; Sedelnikova, S.E.; Muranova, T.; Wiese, S.; Ayora, S.; Alonso, J.C.; Brinkman, A.B.; Akerboom, A.P.; Oost, van der J.; Rafferty, J.B.

2006-01-01

The Lrp/AsnC family of transcriptional regulatory proteins is found in both archaea and bacteria. Members of the family influence cellular metabolism in both a global (Lrp) and specific (AsnC) manner, often in response to exogenous amino acid effectors. In the present study we have determined both

Design of a SOFC/GT/SCs hybrid power system to supply a rural isolated microgrid

International Nuclear Information System (INIS)

Camblong, Haritza; Baudoin, Sylvain; Vechiu, Ionel; Etxeberria, Aitor

2016-01-01

Highlights: • A novel SOFC/GT/SCs HPS is connected to a rural microgrid through a 3LNPC inverter. • An operating strategy that maintains the SOFC power at its rated value is defined. • A robust digital controller that damps current oscillations is designed. • The efficiency, power quality, lifetime, and robustness of the HPS are considered. • An experimental test on an original HPS emulator validates the proposed solutions. - Abstract: The aim of this research study has been to design a Hybrid Power System (HPS) which works with biogas and whose main components are a Solid Oxide Fuel Cell (SOFC), a Gas microTurbine (GT), and a module of SuperCapacities (SCs). The HPS is the only power source of a rural isolated microgrid. Its structure, operating strategy, and controller have been designed considering the following criteria: efficiency, power quality, SOFC lifetime and robustness in stability and performance. The HPS structure includes a unique power converter, a 3-Level Neutral Point Clamped (3LNPC) inverter that connects the HPS to the AC microgrid. Regarding the selected operating strategy, it consists in regulating the SOFC power output to its rated value. Thus, the SCs and the GT must respond to the power demand variations. On the other hand, a study of the HPS shows that its dynamic behavior is not linear. Therefore, a special attention is put on designing a robust HPS controller. The control model is identified and the robust digital controller is designed using the “Tracking and Regulation with Independent Objectives” method. Simulation and experimental results show how the proposed structure, operating strategy, and controller allow ensuring a good behavior of the HPS from the point of view of the abovementioned four criteria.

Crystal Structure of Acivicin-Inhibited [gamma]-Glutamyltranspeptidase Reveals Critical Roles for Its C-Terminus in Autoprocessing and Catalysis

Energy Technology Data Exchange (ETDEWEB)

Williams, Kristin; Cullati, Sierra; Sand, Aaron; Biterova, Ekaterina I.; Barycki, Joseph J.; (UNL)

2009-03-27

Helicobacter pylori {gamma}-glutamyltranspeptidase (HpGT) is a general {gamma}-glutamyl hydrolase and a demonstrated virulence factor. The enzyme confers a growth advantage to the bacterium, providing essential amino acid precursors by initiating the degradation of extracellular glutathione and glutamine. HpGT is a member of the N-terminal nucleophile (Ntn) hydrolase superfamily and undergoes autoprocessing to generate the active form of the enzyme. Acivicin is a widely used {gamma}-glutamyltranspeptidase inhibitor that covalently modifies the enzyme, but its precise mechanism of action remains unclear. The time-dependent inactivation of HpGT exhibits a hyperbolic dependence on acivicin concentration with k{sub max} = 0.033 {+-} 0.006 s{sup -1} and K{sub I} = 19.7 {+-} 7.2 {micro}M. Structure determination of acivicin-modified HpGT (1.7 {angstrom}; R{sub factor} = 17.9%; R{sub free} = 20.8%) demonstrates that acivicin is accommodated within the {gamma}-glutamyl binding pocket of the enzyme. The hydroxyl group of Thr 380, the catalytic nucleophile in the autoprocessing and enzymatic reactions, displaces chloride from the acivicin ring to form the covalently linked complex. Within the acivicin-modified HpGT structure, the C-terminus of the protein becomes ordered with Phe 567 positioned over the active site. Substitution or deletion of Phe 567 leads to a >10-fold reduction in enzymatic activity, underscoring its importance in catalysis. The mobile C-terminus is positioned by several electrostatic interactions within the C-terminal region, most notably a salt bridge between Arg 475 and Glu 566. Mutational analysis reveals that Arg 475 is critical for the proper placement of the C-terminal region, the Tyr 433 containing loop, and the proposed oxyanion hole.

Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations.

Science.gov (United States)

Tricarico, Rossella; Bet, Paola; Ciambotti, Benedetta; Di Gregorio, Carmela; Gatteschi, Beatrice; Gismondi, Viviana; Toschi, Benedetta; Tonelli, Francesco; Varesco, Liliana; Genuardi, Maurizio

2009-02-18

MUTYH-associated polyposis (MAP) is an autosomal recessive condition predisposing to colorectal cancer, caused by constitutional biallelic mutations in the base excision repair (BER) gene MUTYH. Colorectal tumours from MAP patients display an excess of somatic G>T mutations in the APC and KRAS genes due to defective BER function. To date, few extracolonic manifestations have been observed in MAP patients, and the clinical spectrum of this condition is not yet fully established. Recently, one patient with a diagnosis of endometrial cancer and biallelic MUTYH mutations has been described. We here report on two additional unrelated MAP patients with biallelic MUTYH germline mutations who developed endometrioid endometrial carcinoma. The endometrial tumours were evaluated for PTEN, PIK3CA, KRAS, BRAF and CTNNB1 mutations. A G>T transversion at codon 12 of the KRAS gene was observed in one tumour. A single 1bp frameshift deletion of PTEN was observed in the same sample. Overall, these findings suggest that endometrial carcinoma is a phenotypic manifestations of MAP and that inefficient repair of oxidative damage can be involved in its pathogenesis.

Intermonitor reliability of the GT3X+ accelerometer at hip, wrist and ankle sites during activities of daily living

International Nuclear Information System (INIS)

Ozemek, Cemal; Wilkerson, Brittany S; Kaminsky, Leonard A; Kirschner, Monica M; Byun, Wonwoo

2014-01-01

The triaxial GT3X+ accelerometer can measure activity counts in the vertical, horizontal right to left, horizontal front to back planes, and can generate a summative score of the three axes represented by vector magnitude (VM). Information on the reliability of the GT3X+ at the hip, wrist and ankle sites, over all axes and VM during activities of daily living (ADL) is lacking in the literature. Forty healthy adults (14 men and 26 women) were randomly assigned to perform 10 of 20 ADL (consisting of sedentary, housework, yard work, locomotive and recreational activities) while wearing two monitors on the hip, wrist and ankle. Subjects performed each ADL over 7 min and the mean activity counts during the last 4 min were used for analyses. Average intraclass correlations between monitors were high for the three sites for each axis and VM (hip: 0.943, 0.857, 0.864 and 0.966, respectively; wrist: 0.994, 0.963, 0.961 and 0.989, respectively; ankle: 0.977, 0.979, 0.927 and 0.986, respectively). These data suggest that GT3X+ accelerometers measurements made from the hip, wrist and ankle sites are reliable during ADL across all axes and VM. (paper)

The GT-MHR - clear, economic, and safe power for the Pacific Rim

International Nuclear Information System (INIS)

Blue, L.S.; Etzel, K.T.; Simon, W.A.; Wistrom, J.D.

1994-01-01

In recent decades the nations of the Pacific Rim have outpaced the rest of the world in economic growth. Beyond an abundant labor market and the region's natural resources, energy has played a pivotal role in fuelling this boom. The diverse sources of this energy largely reflect the naturally occurring fuel assets in the Rim countries. Only in the countries where these resources are less plentiful has nuclear energy become a significant sources of electric power generation. Persuasive as the argument for non-polluting power may be by itself it does not sell the nuclear energy option. In addition to being clean it must also be economically competitive and very safe. The authors claim that the Gas-Turbine Modular Helium Reactor (GT-MHR) is an advances nuclear power system that addresses the issues, and should be viewed as an attractive candidate to meet future energy needs. The GT-MHR derives from the coupling of a small, passively safe, modular reactor directly with a compact power conversion module. It uses the Brayton cycle to produce electricity directly with the primary helium coolant driving the turbine-generator. Thus, it shows promise for a quantum reduction in power generation costs by increasing plant efficiency to a remarkable 48% This paper highlights the advantages of the fact that the design is based on proven technology, and offers a clean, economic and safe energy for electricity and high temperature process heat. 2 refs., 4 figs

Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.

Science.gov (United States)

Delâge, J M; Lehner-Netsch, G; Lafleur, R; Simard, J; Brun, G; Prochazka, E

1979-06-01

The sera of four sisters were found to lack the sixth component of complement (C6) and the serum of one was also partially deficient in the second component (C2). Two other blood relatives were found to be heterozygous for both deficiencies, while only one sibling had normal values. The father of these eight siblings was heterozygous for C2D and C6D and in the third generation, six children were heterozygous for C6 deficiency was treated for chronic active brucel-transmitted; the C6 deficiency was not linked to the HLA system, while the C2-deficiency segregated with the haplotype A10,B18. The proband, homozygous for C6 deficiency was treated for chronic active Brucellosis and in another sibling with C6 deficiency, toxoplasmosis was diagnosed. Neither bleeding disorders nor a tendency to collagen diseases have been observed and the opsonic activity was normal in the sera of all family members.

[In vitro comparison of root canal preparation with step-back technique and GT rotary file--a nickel-titanium engine driven rotary instrument system].

Science.gov (United States)

Krajczár, Károly; Tóth, Vilmos; Nyárády, Zoltán; Szabó, Gyula

2005-06-01

The aim of the authors' study was to compare the remaining root canal wall thickness and the preparation time of root canals, prepared either with step-back technique, or with GT Rotary File, an engine driven nickel-titanium rotary instrument system. Twenty extracted molars were decoronated. Teeth were divided in two groups. In Group 1 root canals were prepared with step-back technique. In Group 2 GT Rotary File System was utilized. Preoperative vestibulo-oral X-ray pictures were taken from all teeth with radiovisiograph (RVG). The final preparations at the mesiobuccal canals (MB) were performed with size #30 and palatinal/distal canals with size #40 instruments. Postoperative RVG pictures were taken ensuring the preoperative positioning. The working time was measured in seconds during each preparation. The authors also assessed the remaining root canal wall thickness at 3, 6 and 9 mm from the radiological apex, comparing the width of the canal walls of the vestibulo-oral projections on pre- and postoperative RVG pictures both mesially and buccally. The ratios of the residual and preoperative root canal wall thickness were calculated and compared. The largest difference was found at the MB canals of the coronal and middle third level of the root, measured on the distal canal wall. The ratio of the remaining dentin wall thickness at the coronal and the middle level in the case of step-back preparation was 0.605 and 0.754, and 0.824 and 0.895 in the cases of GT files respectively. The preparation time needed for GT Rotary File System was altogether 68.7% (MB) and 52.5% (D/P canals) of corresponding step-back preparation times. The use of GT Rotary File with comparison of standard step-back method resulted in a shortened preparation time and excessive damage of the coronal part of the root canal could be avoided.

Første fælles nordiske monitorering af kost, fysisk aktivitet og overvægt

DEFF Research Database (Denmark)

Fagt, Sisse; Rasmussen, Lone Banke; Trolle, Ellen

2012-01-01

Som en vigtig del af den nordiske handlingsplan for bedre sundhed og livskvalitet gennem kost og fysisk aktivitet har Nordisk Ministerråd besluttet at udvikle og gennemføre en fælles nordisk undersøgelse af kost, fysisk aktivitet og overvægt. Den første monitorering gennemførtes i Norge, Sverige,...

Lower crustal section of the Oman Ophiolite drilled in Hole GT1A, ICDP Oman Drilling Project

Science.gov (United States)

Umino, S.; Kelemen, P. B.; Matter, J. M.; Coggon, J. A.; Takazawa, E.; Michibayashi, K.; Teagle, D. A. H.

2017-12-01

Hole GT1A (22° 53.535'N, 58° 30.904'E) was drilled by the Oman Drilling Project (OmDP) into GT1A of the Samail ophiolite, Oman. OmDP is an international collaboration supported by the International Continental Scientific Drilling Program, the Deep Carbon Observatory, NSF, IODP, JAMSTEC, and the European, Japanese, German and Swiss Science Foundations, with in-kind support in Oman from the Ministry of Regional Municipalities and Water Resources, Public Authority of Mining, Sultan Qaboos University, and the German University of Technology. Hole GT1A was diamond cored in 22 Jan to 08 Feb 2017 to a total depth of 403.05 m. The outer surfaces of the cores were imaged and described on site before being curated, boxed and shipped to the IODP drill ship Chikyu, where they underwent comprehensive visual and instrumental analysis. Hole GT1A drilled the lower crustal section in the southern Oman Ophiolite and recovered 401.52 m of total cores (99.6% recovery). The main lithology is dominated by olivine gabbro (65.9%), followed in abundance by olivine-bearing gabbro (21.5%) and olivine melagabbro (3.9%). Minor rock types are orthopyroxene-bearing olivine gabbro (2.4%), oxide-bearing olivine gabbro (1.5%), gabbro (1.1%), anorthositic gabbro (1%), troctolitic gabbro (0.8%); orthopyroxene-bearing gabbro (0.5%), gabbronorite (0.3%); and dunite (0.3%). These rocks are divided into Lithologic Unit I to VII at 26.62 m, 88.16 m, 104.72 m, 154.04 m, 215.22 m, 306.94 m in Chikyu Curated Depth in descending order; Unit I and II consist of medium-grained olivine gabbro with lower olivine abundance in Unit II. Unit III is medium-grained olivine melagabbros, marked by an increase in olivine. Unit IV is relatively homogenous medium-grained olivine gabbros with granular textures. Unit V is identified by the appearance of fine-grained gabbros, but the major rocktypes are medium grained olivine gabbros. Unit VI is medium-grained olivine gabbro, marked by appearance of orthopyroxene. Unit VII

Effect of heat treatment on impact resistance of AU5GT and AS7G06 aluminum alloys

Energy Technology Data Exchange (ETDEWEB)

Muzamil, Muhammad; Akhtar, Maaz; Samiuddin, Muhammad; Mehdi, Murtuza [NED University of Engineering and Technology, Karachi (Pakistan)

2016-10-15

Impact strength is one of the major mechanical properties that a material should possess in order to absorb sudden changes in the load intensity. The objective of current study is to compare the impact strength of two material (AU5GT and AS7G06), which are used in different structural applications. Almost no work is available which compares the impact strength of selected grade alloys along with different heat treatment cycles. Specimens are heat treated first as per designed cycles, later impact testing is performed. Charpy impact test is conducted in accordance with ASTM E23-12 standard method on three samples with and without heat treatment for each cycle. Solutionizing on samples is done at constant time and temperature to achieve homogenization. Later, aging is conducted at different temperatures ranging from 100-200°C (different intervals) at constant time to find the effect of precipitation hardness that actually increases the strength. Sample hardness is determined using Vickers micro hardness testing machine for each heat treatment cycle. Charpy test results provided the impact energy that is used to determine the strength before fracture. Heat treated samples have showed increase in impact strength for AS7G06 aluminum alloy while AU5GT shows very little change. This is because of growing the precipitation with respect to temperature, which resulted in more hard regions across grains. Hardness also shows an increasing relationship, as expected. Fracture surfaces are analyzed on stereo microscopy and Scanning electron microscopy (SEM) to find the final mode of fracture, that is brittle, ductile or transitional (combination of both brittle and ductile)

R54C Mutation of NOTCH3 Gene in the First Rungus Family with CADASIL.

Directory of Open Access Journals (Sweden)

Kheng-Seang Lim

Full Text Available Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL is a rare hereditary stroke caused by mutations in NOTCH3 gene. We report the first case of CADASIL in an indigenous Rungus (Kadazan-Dusun family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C>T, p.Arg54Cys mutation in the NOTCH3. This mutation was previously reported in a Caucasian and two Korean cases of CADASIL. We recruited two generations of the affected Rungus family (n = 9 and found a missense mutation (c.160C>T in exon 2 of NOTCH3 in three siblings. Two of the three siblings had severe white matter abnormalities in their brain MRI (Scheltens score 33 and 50 respectively, one of whom had a young stroke at the age of 38. The remaining sibling, however, did not show any clinical features of CADASIL and had only minimal changes in her brain MRI (Scheltens score 17. This further emphasized the phenotype variability among family members with the same mutation in CADASIL. This is the first reported family with CADASIL in Rungus subtribe of Kadazan-Dusun ethnicity with a known mutation at exon 2 of NOTCH3. The penetrance of this mutation was not complete during the course of this study.

Characterization of the astacin family of metalloproteases in C. elegans

Directory of Open Access Journals (Sweden)

Zapf Richard

2010-01-01

Full Text Available Abstract Background Astacins are a large family of zinc metalloproteases found in bacteria and animals. They have diverse roles ranging from digestion of food to processing of extracellular matrix components. The C. elegans genome contains an unusually large number of astacins, of which the majority have not been functionally characterized yet. Results We analyzed the expression pattern of previously uncharacterized members of the astacin family to try and obtain clues to potential functions. Prominent sites of expression for many members of this family are the hypodermis, the alimentary system and several specialized cells including sensory sheath and sockets cells, which are located at openings in the body wall. We isolated mutants affecting representative members of the various subfamilies. Mutants in nas-5, nas-21 and nas-39 (the BMP-1/Tolloid homologue are viable and have no apparent phenotypic defects. Mutants in nas-6 and nas-6; nas-7 double mutants are slow growing and have defects in the grinder of the pharynx, a cuticular structure important for food processing. Conclusions Expression data and phenotypic characterization of selected family members suggest a diversity of functions for members of the astacin family in nematodes. In part this might be due to extracellular structures unique to nematodes.

DNA cloning: a practical approach. Volume 1

Energy Technology Data Exchange (ETDEWEB)

Glover, D M [ed.

1985-01-01

This book is written for the advanced molecular biologist who needs a detailed discussion of cloning technology. Topics of discussion include: genomic library cloning (size of a genomic library, screening methods, chromosome walking, host cell genetics, and general features of bacteriophage Iambda); use of gt10 and gt11 cDNA lambda vectors and general cDNA cloning; RNase H-Pol I cDNA synthesis; method of detecting fusion proteins produced in bacteria; pEMBL family of double-stranded plasmid vectors that can be used to generate single strands; Escherichia coli transformation; production of mutations in cloned sequences; and cloning in gram negative bacteria.

GT-repeat polymorphism in the heme oxygenase-1 gene promoter is associated with cardiovascular mortality risk in an arsenic-exposed population in northeastern Taiwan

International Nuclear Information System (INIS)

Wu, Meei-Maan; Chiou, Hung-Yi; Chen, Chi-Ling; Wang, Yuan-Hung; Hsieh, Yi-Chen; Lien, Li-Ming; Lee, Te-Chang; Chen, Chien-Jen

2010-01-01

Inorganic arsenic has been associated with increased risk of atherosclerotic vascular disease and mortality in humans. A functional GT-repeat polymorphism in the heme oxygenase-1 (HO-1) gene promoter is inversely correlated with the development of coronary artery disease and restenosis after clinical angioplasty. The relationship of HO-1 genotype with arsenic-associated cardiovascular disease has not been studied. In this study, we evaluated the relationship between the HO-1 GT-repeat polymorphism and cardiovascular mortality in an arsenic-exposed population. A total of 504 study participants were followed up for a median of 10.7 years for occurrence of cardiovascular deaths (coronary heart disease, cerebrovascular disease, and peripheral arterial disease). Cardiovascular risk factors and DNA samples for determination of HO-1 GT repeats were obtained at recruitment. GT repeats variants were grouped into the S (< 27 repeats) or L allele (≥ 27 repeats). Relative mortality risk was estimated using Cox regression analysis, adjusted for competing risk of cancer and other causes. For the L/L, L/S, and S/S genotype groups, the crude mortalities for cardiovascular disease were 8.42, 3.10, and 2.85 cases/1000 person-years, respectively. After adjusting for conventional cardiovascular risk factors and competing risk of cancer and other causes, carriers with class S allele (L/S or S/S genotypes) had a significantly reduced risk of cardiovascular mortality compared to non-carriers (L/L genotype) [OR, 0.38; 95% CI, 0.16-0.90]. In contrast, no significant association was observed between HO-1 genotype and cancer mortality or mortality from other causes. Shorter (GT)n repeats in the HO-1 gene promoter may confer protective effects against cardiovascular mortality related to arsenic exposure.

Characterisation of a New Family of Carboxyl Esterases with an OsmC Domain.

Directory of Open Access Journals (Sweden)

Mai-Britt V Jensen

Full Text Available Proteins in the serine esterase family are widely distributed in bacterial phyla and display activity against a range of biologically produced and chemically synthesized esters. A serine esterase from the psychrophilic bacterium Pseudoalteromonas arctica with a C-terminal OsmC-like domain was recently characterized; here we report on the identification and characterization of further putative esterases with OsmC-like domains constituting a new esterase family that is found in a variety of bacterial species from different environmental niches. All of these proteins contained the Ser-Asp-His motif common to serine esterases and a highly conserved pentapeptide nucleophilic elbow motif. We produced these proteins heterologously in Escherichia coli and demonstrated their activity against a range of esterase substrates. Two of the esterases characterized have activity of over two orders of magnitude higher than other members of the family, and are active over a wide temperature range. We determined the crystal structure of the esterase domain of the protein from Rhodothermus marinus and show that it conforms to the classical α/β hydrolase fold with an extended 'lid' region, which occludes the active site of the protein in the crystal. The expansion of characterized members of the esterase family and demonstration of activity over a wide-range of temperatures could be of use in biotechnological applications such as the pharmaceutical, detergent, bioremediation and dairy industries.

Colletotrichine A, a new sesquiterpenoid from Colletotrichum gloeosporioides GT-7, a fungal endophyte of Uncaria rhynchophylla.

Science.gov (United States)

Chen, Xiao-Wei; Yang, Zhong-Duo; Sun, Jian-Hui; Song, Tong-Tong; Zhu, Bao-Ying; Zhao, Jun-Wen

2018-04-01

One new compound, Colletotrichine A (1), was produced by the fungal Colletotrichum gloeosporioides GT-7. The structure was established by 1D and 2D NMR spectra. Monoamine oxidase (MAO) and acetylcholinesterase (AChE) inhibitory activity of 1 was also evaluated. Compound 1 showed AChE-inhibiting activity with IC 50 value of 28 μg/mL.

The gas turbine-modular helium reactor (GT-MHR), high efficiency, cost competitive, nuclear energy for the next century

International Nuclear Information System (INIS)

Zgliczynski, J.B.; Silady, F.A.; Neylan, A.J.

1994-04-01

The Gas Turbine-Modular Helium Reactor (GT-MHR) is the result of coupling the evolution of a small passively safe reactor with key technology developments in the US during the last decade: large industrial gas turbines, large active magnetic bearings, and compact, highly effective plate-fin heat exchangers. The GT-MHR is the only reactor concept which provides a step increase in economic performance combined with increased safety. This is accomplished through its unique utilization of the Brayton cycle to produce electricity directly with the high temperature helium primary coolant from the reactor directly driving the gas turbine electrical generator. This cannot be accomplished with another reactor concept. It retains the high levels of passive safety and the standardized modular design of the steam cycle MHTGR, while showing promise for a significant reduction in power generating costs by increasing plant net efficiency to a remarkable 47%

[Effects of nitriles and amides on the growth and the nitrile hydratase activity of the Rhodococcus sp. strain gt1].

Science.gov (United States)

Maksimov, A Iu; Kuznetsova, M V; Ovechkina, G V; Kozlov, S V; Maksimova, Iu G; Demakov, V A

2003-01-01

Effects of some nitriles and amides, as well as glucose and ammonium, on the growth and the nitrile hydratase (EC 4.2.1.84) activity of the Rhodococcus sp. strain gt1 isolated from soil were studied. The activity of nitrile hydratase mainly depended on carbon and nitrogen supply to cells. The activity of nitrile hydratase was high in the presence of glucose and ammonium at medium concentrations and decreased at concentrations of glucose more than 0.3%. Saturated unsubstituted aliphatic nitriles and amides were found to be a good source of nitrogen and carbon. However, the presence of nitriles and amides in the medium was not absolutely necessary for the expression of the activity of nitrile hydratase isolated from the Rhodococcus sp. strain gt1.

Feasibility study for SOFC-GT hybrid locomotive power: Part I. Development of a dynamic 3.5 MW SOFC-GT FORTRAN model

Science.gov (United States)

Martinez, Andrew S.; Brouwer, Jacob; Samuelsen, G. Scott

2012-09-01

This work presents the development of a dynamic SOFC-GT hybrid system model applied to a long-haul freight locomotive in operation. Given the expectations of the rail industry, the model is used to develop a preliminary analysis of the proposed system's operational capability on conventional diesel fuel as well as natural gas and hydrogen as potential fuels in the future. It is found that operation of the system on all three of these fuels is feasible with favorable efficiencies and reasonable dynamic response. The use of diesel fuel reformate in the SOFC presents a challenge to the electrochemistry, especially as it relates to control and optimization of the fuel utilization in the anode compartment. This is found to arise from the large amount of carbon monoxide in diesel reformate that is fed to the fuel cell, limiting the maximum fuel utilization possible. This presents an opportunity for further investigations into carbon monoxide electrochemical oxidation and/or system integration studies where the efficiency of the fuel reformer can be balanced against the needs of the SOFC.

Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa

Science.gov (United States)

Abdulridha-Aboud, Wissam; Kjellström, Ulrika; Andréasson, Sten

2016-01-01

Purpose To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions These two families demonstrate the extreme inter- and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype. PMID:27212874

Clostridial Binary Toxins: Iota and C2 Family Portraits

Science.gov (United States)

Stiles, Bradley G.; Wigelsworth, Darran J.; Popoff, Michel R.; Barth, Holger

2011-01-01

There are many pathogenic Clostridium species with diverse virulence factors that include protein toxins. Some of these bacteria, such as C. botulinum, C. difficile, C. perfringens, and C. spiroforme, cause enteric problems in animals as well as humans. These often fatal diseases can partly be attributed to binary protein toxins that follow a classic AB paradigm. Within a targeted cell, all clostridial binary toxins destroy filamentous actin via mono-ADP-ribosylation of globular actin by the A component. However, much less is known about B component binding to cell-surface receptors. These toxins share sequence homology amongst themselves and with those produced by another Gram-positive, spore-forming bacterium also commonly associated with soil and disease: Bacillus anthracis. This review focuses upon the iota and C2 families of clostridial binary toxins and includes: (1) basics of the bacterial source; (2) toxin biochemistry; (3) sophisticated cellular uptake machinery; and (4) host–cell responses following toxin-mediated disruption of the cytoskeleton. In summary, these protein toxins aid diverse enteric species within the genus Clostridium. PMID:22919577

R.E.A.C.H. to Teach: Making Patient and Family Education "Stick".

Science.gov (United States)

Cutilli, Carolyn Crane

2016-01-01

Healthcare professionals teach patients and families about their health every day. Regulatory and accreditation organizations mandate patient and family education to promote better health outcomes. And recently, financial rewards for healthcare organizations are being tied to patient satisfaction (Hospital Consumer Assessment of Healthcare Providers and Systems-HCAHPS). A University of Pennsylvania Health System group of staff and patients, devoted to excellence in patient and family education, developed the graphic "R.E.A.C.H. to Teach." The purpose of the graphic is to make evidence-based practice (EBP) for patient and family education "stick" with staff. The group used concepts from the marketing book, Made to Stick, to demonstrate how to develop effective staff and patient and family education. Ideas (education) that survive ("stick") have the following attributes: simple, unexpected, concrete, credible, emotional, and narrative (story). This article demonstrates how to apply these principles and EBP to patient and family education.

Closing the Gap: The Challenges of Treating Hepatitis C Virus Genotype 3 Infection.

Science.gov (United States)

Martin, Michelle T; Deming, Paulina

2017-06-01

The efficacy of hepatitis C virus (HCV) treatment has increased over the last 5 years to nearly 100% for many patient groups. Patients with genotype (GT) 3 HCV infection, however, and specifically cirrhotic or treatment-experienced patients, have lower sustained virologic response (SVR) rates than patients with other GTs. Because GT 3 presents more clinical challenges than other GTs, this review focuses on the evolution and efficacy of direct-acting antiviral (DAA) treatment options for HCV GT 3 infection after the historical standard of care with pegylated interferon and ribavirin. Our objective was to review the SVR rates with available and late-pipeline DAAs for HCV GT 3 infection and discuss challenges with successful GT 3 treatment. Authors performed a literature search of the PubMed/MEDLINE database (inception to March 27, 2017) and narrowed the field to clinical trials published in English. Trials that evaluated alternative treatments, non-DAA historical treatment, and DAAs not currently indicated for HCV were excluded. Trials only involving patients with human immunodeficiency virus/HCV coinfection were also excluded. Additional trials were identified from a review of the ClinicalTrials.gov database. Authors further identified references from a review of literature citations and reviewed annual meeting abstracts from the American Association for the Study of Liver Diseases and the European Association for the Study of the Liver for pipeline and real-world GT 3 data. Phase III trial data were not available to support all GT 3 treatment recommendations found in the guidelines. The SVR rates were lower in treatment-experienced and cirrhotic patients with GT 3 than other HCV populations. Treatment failure was associated with resistance to current treatment regimens. Clinical studies included patients with various levels of advanced liver disease, but few patients with decompensated cirrhosis were represented. Recent advances in pharmacologic treatment with DAAs

Brain pericyte-derived soluble factors enhance insulin sensitivity in GT1-7 hypothalamic neurons.

Science.gov (United States)

Takahashi, Hiroyuki; Takata, Fuyuko; Matsumoto, Junichi; Machida, Takashi; Yamauchi, Atsushi; Dohgu, Shinya; Kataoka, Yasufumi

2015-02-20

Insulin signaling in the hypothalamus plays an important role in food intake and glucose homeostasis. Hypothalamic neuronal functions are modulated by glial cells; these form an extensive network connecting the neurons and cerebral vasculature, known as the neurovascular unit (NVU). Brain pericytes are periendothelial accessory structures of the blood-brain barrier and integral members of the NVU. However, the interaction between pericytes and neurons is largely unexplored. Here, we investigate whether brain pericytes could affect hypothalamic neuronal insulin signaling. Our immunohistochemical observations demonstrated the existence of pericytes in the mouse hypothalamus, exhibiting immunoreactivity of platelet-derived growth factor receptor β (a pericyte marker), and laminin, a basal lamina marker. We then exposed a murine hypothalamic neuronal cell line, GT1-7, to conditioned medium obtained from primary cultures of rat brain pericytes. Pericyte-conditioned medium (PCM), but not astrocyte- or aortic smooth muscle cell-conditioned medium, increased the insulin-stimulated phosphorylation of Akt in GT1-7 cells in a concentration-dependent manner. PCM also enhanced insulin-stimulated tyrosine phosphorylation of insulin receptor β without changing its expression or localization in cytosolic or plasma membrane fractions. These results suggest that pericytes, rather than astrocytes, increase insulin sensitivity in hypothalamic neurons by releasing soluble factors under physiological conditions in the NVU. Copyright © 2015 Elsevier Inc. All rights reserved.

The C1q family of proteins: insights into the emerging non-traditional functions

Directory of Open Access Journals (Sweden)

Berhane eGhebrehiwet

2012-04-01

Full Text Available Research conducted over the past 20 years have helped us unravel not only the hidden structural and functional subtleties of human C1q, but also has catapulted the molecule from a mere recognition unit of the classical pathway to a well-recognized molecular sensor of damage modified self or non-self antigens. Thus, C1q is involved in a rapidly expanding list of pathological disorders—including autoimmunity, trophoblast migration, preeclampsia and cancer. The results of two recent reports are provided to underscore the critical role C1q plays in health and disease. First is the observation by Singh and colleagues showing that pregnant C1q-/- mice recapitulate the key features of human preeclampsia that correlate with increased fetal death. Treatment of the C1q-/- mice with pravastatin restored trophoblast invasiveness, placental blood flow, and angiogenic balance and, thus, prevented the onset of preeclampsia. Second is the report by Hong et al., which showed that C1q can induce apoptosis of prostate cancer cells by activating the tumor suppressor molecule WW-domain containing oxydoreductase (WWOX or WOX1 and destabilizing cell adhesion. Downregulation of C1q on the other hand enhanced prostate hyperplasia and cancer formation due to failure of WOX1 activation. Recent evidence also shows that C1q belongs to a family of structurally and functionally related TNFα-like family of proteins that may have arisen from a common ancestral gene. Therefore C1q not only shares the diverse functions with the TNF family of proteins, but also explains why C1q has retained some of its ancestral cytokine-like activities. This review is intended to highlight some of the structural and functional aspects of C1q by underscoring the growing list of its non-traditional functions.

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis

DEFF Research Database (Denmark)

Tommiska, Johanna; Känsäkoski, Johanna; Skibsbye, Lasse

2017-01-01

unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes. Co-expressing KCNQ1 with the KCNE2 β...

Pharmacokinetics and Plasma Cellular Antioxidative Effects of Flavanols After Oral Intake of Green Tea Formulated with Vitamin C and Xylitol in Healthy Subjects.

Science.gov (United States)

Son, Yu-Ra; Park, Tae-Sik; Shim, Soon-Mi

2016-02-01

This study aimed to test whether green tea formulated with vitamin C and xylitol (GTVX) could improve absorption of flavanols and total antioxidant activity (TAC) of plasma compared with green tea only (GT) in healthy subjects. The total radical-trapping antioxidant parameter method was used to measure the TAC of plasma. Cmax, Tmax, and area under the curve (AUC) of flavanols in plasma after consumption of GTVX were 5980.58 μg/mL, 2.14 h, and 18,915.56 h·μg/mL, respectively, indicating that GTVX showed significantly higher AUC than GT (13,855.43 μg/mL). The peak TACs occurred at 3 and 0.5 h after intake of GT and GTVX, respectively. The TAC of plasma was found to be significantly higher in GTVX than in GT at each time point. This study suggests that formulating green tea with vitamin C and xylitol could increase the absorption of flavanols in green tea, enhancing cellular antioxidative effects.

Management system and potential markets for a HTR-GT plant

International Nuclear Information System (INIS)

Crommelin, G.A.K.

1997-01-01

This article will discuss some aspects which could be helpful to execute a HTR-GT study successfully: 1. The preferred type of organisation for such a study; in order to achieve a maximum of support in society and industry, a minimum of through life costing and a maximum of through life support. 2. The lead time needed for such studies i.e. the design, component testing, prototype testing, the required efficiency, the type of energy in quantity and quality, financial targets, controllability, maintainability and reliability. 3. The potential markets for the nuclear gasturbine driven energy plants in the low power range. Analyses of the markets will be explained from the user's point of view on why, when and how, for what purpose, in which power range, as well as how many units per application would be required. (author)

FRONT AXLE OF MERCEDES AMG GT. MODELLING IN AUTODESK INVENTOR

Directory of Open Access Journals (Sweden)

COROLENCU Eduard – Narcis

2017-05-01

Full Text Available This paper analyzes the front axle of the Mercedes AMG GT model, as so as the graphical representation of the axle and of the subassemblies of suspension system and steering system, using the AutoCAD and Autodesk Inventor software. The paper include the steps for made the 3D model of the front axle in order to highlight the advantages of suspension and steering system, the function of this systems and methods for manufacturing of these. The 3D model presents a suite of complex surfaces. This type of surfaces is often designed with non-analytical means. The main commands and options used in Autodesk Inventor software were presented and explained. All the component parts of the front axle were modelled and assembled according to their functional role. Finally, the models were rendered in order to have a realistic appearance.

Estrogen modulates potassium currents and expression of the Kv4.2 subunit in GT1-7 cells.

Science.gov (United States)

Farkas, Imre; Varju, Patricia; Liposits, Zsolt

2007-03-01

The proper maintenance of reproduction requires the pulsatile secretion of gonadotropin-releasing hormone (GnRH), which is ensured by synchronized periodic firing of multiple GnRH neurons. Both hormone secretion and electrophysiological properties of GnRH cells are influenced by estrogen. The impact of 17beta-estradiol treatment on the function of voltage gated A- and K-type potassium channels, known modulators of firing rate, was therefore examined in our experiments using immortalized GnRH-producing GT1-7 neurons. Whole cell patch clamp recordings showed the absence of the A-type current in GT1-7 cells cultured in estrogen-free medium and after 8h 17beta-estradiol treatment. Exposure of the cells to 17beta-estradiol for 24 and 48 h, respectively, resulted in the appearance of the A-type current. The induction of the A-type current by 17beta-estradiol was dose-related (50 pM to 15 nM range). In contrast, the K-type potassium current was apparent in the estrogen-free environment and 17beta-estradiol administration significantly decreased its amplitude. Co-administration of 17beta-estradiol and estrogen receptor blocker, Faslodex (ICI 182,780; 1 microM) abolished the occurrence of the A-type current. Real-time PCR data demonstrated that expression of the Kv4.2 subunit of the A-type channel was low at 0, 0.5, 2 and 8h, peaked at 24h and diminished at 48 h 17beta-estradiol treatment (15 nM). These data indicate that potassium channels of GT1-7 neurons are regulated by estrogen a mechanism that might contribute to modulation of firing rate and hormone secretion in GnRH neurons.

Validation of the Actigraph GT3X and ActivPAL Accelerometers for the Assessment of Sedentary Behavior

Science.gov (United States)

Kim, Youngdeok; Barry, Vaughn W.; Kang, Minsoo

2015-01-01

This study examined (a) the validity of two accelerometers (ActiGraph GT3X [ActiGraph LLC, Pensacola, FL, USA] and activPAL [PAL Technologies Ltd., Glasgow, Scotland]) for the assessment of sedentary behavior; and (b) the variations in assessment accuracy by setting minimum sedentary bout durations against a proxy for direct observation using an…

The Chinese Family Assessment Instrument (C-FAI): Hierarchical Confirmatory Factor Analyses and Factorial Invariance

Science.gov (United States)

Shek, Daniel T. L.; Ma, Cecilia M. S.

2010-01-01

Objective: This paper examines the dimensionality and factorial invariance of the Chinese Family Assessment Instrument (C-FAI) using multigroup confirmatory factor analyses (MCFAs). Method: A total of 3,649 students responded to the C-FAI in a community survey. Results: Results showed that there are five dimensions of the C-FAI (communication,…

Development of new 6-speed manual transmission for SKYLINE GT-R; Skyline GT-R yo shingata 6 soku manual transmission no kaihatsu

Energy Technology Data Exchange (ETDEWEB)

Hayami, H.; Kawasaki, M.; Yamamoto, K.; Gaber, J. [Nissan Motor Co. Ltd., Tokyo (Japan)

1999-06-01

Described herein is a new 6-speed manual transmission (6MT), jointly developed for the new SKYLINE GT-R model. It adopts a close gear ratio, to realize light acceleration performance by improving drop of engine revolution number during the shift-up period by up to 12%. It has an increased synchro capacity by adopting a triple-cone synchro system for the first and second speeds, and double-cone synchro system for the third and fourth speeds, thereby decreasing shift operational force requirement by up to 35% from that for the conventional 5MT type. A non-symmetrical chamfer synchro structure is used for the second and third speeds, to reduce load generated when the speed is changed. The shift stroke is shortened by 24% by reviewing the dimensions. A high-rigidity shift lever and select stopper structure are adopted, to improve shift rigidity sensation. The transmission case is optimized, to reduce its weight while securing its rigidity. Transmission oil temperature is decreased by installing a cooling fan and increasing overdrive gear ratio. (NEDO)

GT-MHR COMMERCIALIZATION STUDY TECHNICAL PROGRESS AND COST MANAGEMENT REPORT FOR THE PERIOD AUGUST 1 THROUGH AUGUST 31, 2003

International Nuclear Information System (INIS)

Shenoy, A.S.

2003-01-01

OAK A271 GT-MHR COMERCIALiZATION STUDY TECHNICAL PROGRESS AND COST MANAGEMENT REPORT FOR THE PERIOD AUGUST 1 THROUGH AUGUST 31, 2003. In the process of fabricating the MHR-1 irradiation test capsule, Petten has advised that three thermocouples (out of 24) and the Self Powered Neutron detector were damaged during high temperature brazing with the upper capsule lid. Procurement of new TCs and SPN is in process but there will be a delay in the irradiation test of about nine weeks. Startup of the irradiation is now projected to be July or August 2004. In preparation for performing the nuclear design analysis activities required by the advanced fuel studies task, a complete 3-D nuclear design analysis is first being performed of the GT-MHR reference design. This will serve as the baseline for studies of the advanced fuel nuclear design performance

Sensitivity of hepatitis C virus core antigen and antibody combination assays in a global panel of window period samples

Science.gov (United States)

Laperche, Syria; Nubling, C. Micha; Stramer, Susan L.; Brojer, Ewa; Grabarczyk, Piotr; Yoshizawa, Hiroshi; Kalibatas, Vytenis; El Elkyabi, Magdy; Moftah, Faten; Girault, Annie; van Drimmelen, Harry; Busch, Michael P.; Lelie, Nico

2016-01-01

BACKGROUND Hepatitis C virus (HCV) antigen and antibody combination assays have been launched as a cost-effective alternative to nucleic acid testing (NAT) for reducing the antibody-negative window period (WP). Later, a HCV antigen chemiluminescence immunoassay (CLIA) became available. STUDY DESIGN AND METHODS A panel composed of 337 HCV NAT–yield samples that were characterized for viral load (VL) and genotype was used to compare the sensitivity of two combination enzyme-linked immunosorbent assays (Monolisa, Bio-Rad; and Murex, formerly Abbott) and a HCV antigen CLIA (Abbott). Analytic sensitivity was compared with HCV RNA detection using Ultrio (Grifols) by testing serial dilutions of 10 genotype (gt)1 to gt4 samples. RESULTS HCV antigen CLIA detected 92.4% of samples, whereas Monolisa and Murex detected 38.3 and 47.5%, respectively. In the HCV RNA VL range of 105 to 107 IU/mL, Monolisa and Murex detected 38% to 56% of gt1, 85% to 78% of gt2, and 21% to 37% of gt3. The overall geometric mean 50% limit of detection (range) of Ultrio on gt1 to gt4 dilution series was 3.5 (1.2–7.7) copies/mL, compared to 3.3 × 106 (4.4 × 105-2.7 × 107), 3.4 × 106 (2.2 × 105–4.2 × 107), and 2728 (415–7243) copies/mL for Monolisa, Murex, and HCV antigen CLIA, respectively. CONCLUSION Analytical sensitivity of NAT was on average 1 million- and 780-fold higher than combination assays and HCV antigen CLIA, respectively. Relative sensitivities of combination assays differed for genotypes with Murex being more sensitive for gt1 and gt3 and Monolisa more sensitive for gt2. Although being less sensitive than NAT, combination assays could be considered in resource-limited settings since they detect 38% to 47% of seronegative WP donations. PMID:26013970

Sequence of human protamine 2 cDNA

Energy Technology Data Exchange (ETDEWEB)

Domenjoud, L; Fronia, C; Uhde, F; Engel, W [Universitaet Goettingen (West Germany)

1988-08-11

The authors report the cloning and sequencing of a cDNA clone for human protamine 2 (hp2), isolated from a human testis cDNA library cloned in the vector {lambda}-gt11. A 66mer oligonucleotide, that corresponds to an amino acid sequence which is highly conserved between hp2 and mouse protamine 2 (mp2) served as hybridization probe. The homology between the amino acid sequence deduced from our cDNA and the published amino acid sequence for hp2 is 100%.

Activity-Based Profiling of a Physiologic Aglycone Library Reveals Sugar Acceptor Promiscuity of Family 1 UDP-Glucosyltransferases from Grape1[W

Science.gov (United States)

Bönisch, Friedericke; Frotscher, Johanna; Stanitzek, Sarah; Rühl, Ernst; Wüst, Matthias; Bitz, Oliver; Schwab, Wilfried

2014-01-01

Monoterpenols serve various biological functions and accumulate in grape (Vitis vinifera), where a major fraction occurs as nonvolatile glycosides. We have screened the grape genome for sequences with similarity to terpene URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASES (UGTs) from Arabidopsis (Arabidopsis thaliana). A ripening-related expression pattern was shown for three candidates by spatial and temporal expression analyses in five grape cultivars. Transcript accumulation correlated with the production of monoterpenyl β-d-glucosides in grape exocarp during ripening and was low in vegetative tissue. Targeted functional screening of the recombinant UGTs for their biological substrates was performed by activity-based metabolite profiling (ABMP) employing a physiologic library of aglycones built from glycosides isolated from grape. This approach led to the identification of two UDP-glucose:monoterpenol β-d-glucosyltransferases. Whereas VvGT14a glucosylated geraniol, R,S-citronellol, and nerol with similar efficiency, the three allelic forms VvGT15a, VvGT15b, and VvGT15c preferred geraniol over nerol. Kinetic resolution of R,S-citronellol and R,S-linalool was shown for VvGT15a and VvGT14a, respectively. ABMP revealed geraniol as the major biological substrate but also disclosed that these UGTs may add to the production of further glycoconjugates in planta. ABMP of aglycone libraries provides a versatile tool to uncover novel biologically relevant substrates of small-molecule glycosyltransferases that often show broad sugar acceptor promiscuity. PMID:25073706

Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families

NARCIS (Netherlands)

Pondman, Kirsten M.; Brinkman, Jacoline W.; van der Straaten, Hanneke M.; Stroobants, An K.; Harteveld, Cornelis L.

2018-01-01

We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb

In vitro evidence of glucose-induced toxicity in GnRH secreting neurons: high glucose concentrations influence GnRH secretion, impair cell viability, and induce apoptosis in the GT1-1 neuronal cell line.

Science.gov (United States)

Pal, Lubna; Chu, Hsiao-Pai; Shu, Jun; Topalli, Ilir; Santoro, Nanette; Karkanias, George

2007-10-01

To evaluate for direct toxic effects of high glucose concentrations on cellular physiology in GnRH secreting immortalized GT1-1 neurons. Prospective experimental design. In vitro experimental model using a cell culture system. GT1-1 cells were cultured in replicates in media with two different glucose concentrations (450 mg/dL and 100 mg/dL, respectively) for varying time intervals (24, 48, and 72 hours). Effects of glucose concentrations on GnRH secretion by the GT1-1 neurons were evaluated using a static culture model. Cell viability, cellular apoptosis, and cell cycle events in GT1-1 neurons maintained in two different glucose concentrations were assessed by flow cytometry (fluorescence-activated cell sorter) using Annexin V-PI staining. Adverse influences of high glucose concentrations on GnRH secretion and cell viability were noted in cultures maintained in high glucose concentration (450 mg/dL) culture medium for varying time intervals. A significantly higher percentage of cells maintained in high glucose concentration medium demonstrated evidence of apoptosis by a fluorescence-activated cell sorter. We provide in vitro evidence of glucose-induced cellular toxicity in GnRH secreting GT1-1 neurons. Significant alterations in GnRH secretion, reduced cell viability, and a higher percentage of apoptotic cells were observed in GT1-1 cells maintained in high (450 mg/dL) compared with low (100 mg/dL) glucose concentration culture medium.

Multidisciplinary Strategies in the Prevention and Early Detection of Ovarian Cancer

Science.gov (United States)

2001-09-01

Pyrc, J.J., Druck , T., Huebner, K. Retroposition in a family of carcinoma associated antigen genes. Mol. Cell. Biol., 13: 1507-1515, 1993. 14. Szala...SPC (the bioactive form of SPC) vs. _threo-SPC (Fig. 3A, 3d panel). Interestingly, unlike OGRI, which is specific for SPC as its ligand (2), GPR4...WEB-2086, were used. Both BN52021 (200 gtM) and WEB-2086 (2 gtM) completely abolished the calcium signal induced by PAF (100 nM) (Fig. 3C and 3D

A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma

OpenAIRE

Silva, Adriana Madeira Alvares da [UNIFESP; Maciel, Rui Monteiro de Barros [UNIFESP; Dias-da-Silva, Magnus Régios [UNIFESP; Toledo, Silvia Regina Caminada de [UNIFESP; De Carvalho, Marcos B.; Cerutti, Janete Maria [UNIFESP

2003-01-01

Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainly in cysteine codon 10 or 11, whereas noncysteine mutations in codons 13 - 15 are rare. We now report a new missense point mutation in exon 8 of the RET gene (1597G-->T) corresponding to a Gly(533)Cys substitution in the cystein-rich domain of RET protein in 76 patients from a 6-generation Brazilian family with 229 subjects, with ascendants from Spain. It is likely that the mutation causes familia...

Slurry Ice as a Cooling System on 30 GT Fishing Vessel

Directory of Open Access Journals (Sweden)

Alam Baheramsyah

2017-06-01

Full Text Available Indonesia is the largest archipelago country in the world that has a sea area that is very spacious. Indonesian sea area is 5.8 million square kilometers and a coastline of 95 181 km has huge potential in the fisheries sector. In line with the need to further improve on the quality of the fish catch. One way to preserve fish is to use a slurry of ice. Slurry ice proved more effective preserving fishery products instead of using ice cubes. Ice slurry cooling system was designed and applied to the fishing vessel 30 GT. The cooling system uses a simple vapor compression system consists of five major components consisting of evaporator, condenser, compressor, and two pumps.In designing this system determined the type of refrigerant used in advance which type of refrigerant R-507a. Then do the design or selection of its main components. The design is only done on the evaporator. As for the other major components such as condensers, compressors, and pumps election in accordance with the specification of the power needed. After that dialakukan depiction of each system component. Then subsequently designing the laying of ice slurry cooling system components on a fishing vessel 30 GT.            Through calculations using simple thermodynamic equations obtained cooling load on this system amounted to 32.06 kW. Condenser with a power of 40 kW. Compressor with power 12 kW. Pump with capacity 10 m3 / h. With memepertimbangkan space left on the ship in the ice slurry system design on the main deck of the ship to the efficient use of space on board. The power requirements of the generator vessel increases due to the addition of ice slurry system components therefore do replacement generator into the generator with a power of 100 kW and penambahn fuel tank to 6,000 L.

Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family.

Science.gov (United States)

Godbole, Koumudi G; Ramachandran, Angelina; Karkamkar, Ashwini S; Dalal, Ashwin B

2018-04-13

While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation. Here we provide biochemical as well as clinical details of this variant.

Structural basis for antagonizing a host restriction factor by C7 family of poxvirus host-range proteins.

Science.gov (United States)

Meng, Xiangzhi; Krumm, Brian; Li, Yongchao; Deng, Junpeng; Xiang, Yan

2015-12-01

Human sterile alpha motif domain-containing 9 (SAMD9) protein is a host restriction factor for poxviruses, but it can be overcome by some poxvirus host-range proteins that share homology with vaccinia virus C7 protein. To understand the mechanism of action for this important family of host-range factors, we determined the crystal structures of C7 and myxoma virus M64, a C7 family member that is unable to antagonize SAMD9. Despite their different functions and only 23% sequence identity, the two proteins have very similar overall structures, displaying a previously unidentified fold comprised of a compact 12-stranded antiparallel β-sandwich wrapped in two short α helices. Extensive structure-guided mutagenesis of C7 identified three loops clustered on one edge of the β sandwich as critical for viral replication and binding with SAMD9. The loops are characterized with functionally important negatively charged, positively charged, and hydrophobic residues, respectively, together forming a unique "three-fingered molecular claw." The key residues of the claw are not conserved in two C7 family members that do not antagonize SAMD9 but are conserved in distantly related C7 family members from four poxvirus genera that infect diverse mammalian species. Indeed, we found that all in the latter group of proteins bind SAMD9. Taken together, our data indicate that diverse mammalian poxviruses use a conserved molecular claw in a C7-like protein to target SAMD9 and overcome host restriction.

Analysis of resistance-associated substitutions in acute hepatitis C virus infection by deep sequencing across six genotypes and three continents.

Science.gov (United States)

Eltahla, A A; Rodrigo, C; Betz-Stablein, B; Grebely, J; Applegate, T; Luciani, F; Schinkel, J; Dore, G J; Page, K; Bruneau, J; Morris, M D; Cox, A L; Kim, A Y; Shoukry, N H; Lauer, G M; Maher, L; Hellard, M; Prins, M; Lloyd, A R; Bull, R A

2017-01-01

Several direct-acting antivirals (DAAs) have been approved for the treatment of chronic hepatitis C virus (HCV) infections, opening the door to highly effective interferon-free treatment regimens. Resistance-associated substitutions (RASs) have been reported both in treatment-naïve patients and following treatment with protease (NS3), phosphoprotein (NS5A) and polymerase (NS5B) inhibitors. The prevalence of naturally occurring RASs in untreated HCV-infected individuals has mostly been analysed in those infected with genotype 1 (GT1), in the late phase of infection, and only within limited regions of the genome. Furthermore, the geographic distribution of RASs remains poorly characterized. In this study, we used next-generation sequencing to analyse full-length HCV genomes for the prevalence of RASs in acute HCV infections identified in nine international prospective cohorts. RASs were analysed in 179 participants infected with all six major HCV genotypes (GT1-GT6), and the geographic distribution of RASs was assessed in 107 GT1a and GT3a samples. While RASs were detected at varied frequencies across the three genomic regions, and between genotypes, RASs relevant to multiple DAAs in the leading IFN-free regimens were rarely detected in combination. Low-frequency RASs (<10% of the viral population) were also shown to have a GT-specific distribution. The main RASs with geographic associations were NS3 Q80K in GT1a samples and NS5B N142T in GT3a. These data provide the backdrop for prospective surveillance of RASs during DAA treatment scale-up. © 2016 John Wiley & Sons Ltd.

Thermoeconomic analysis of Biomass Integrated Gasification Gas Turbine Combined Cycle (BIG GT CC) cogeneration plant

Energy Technology Data Exchange (ETDEWEB)

Arrieta, Felipe Raul Ponce; Lora, Electo Silva [Escola Federal de Engenharia de Itajuba, MG (Brazil). Nucleo de Estudos de Sistemas Termicos]. E-mails: aponce@iem.efei.br; electo@iem.efei.br; Perez, Silvia Azucena Nebra de [Universidade Estadual de Campinas, SP (Brazil). Faculdade de Engenharia Mecanica. Dept. de Energia]. E-mail: sanebra@fem. unicamp.br

2000-07-01

Using thermoeconomics as a tool to identify the location and magnitude of the real thermodynamic losses (energy waste, or exergy destruction and exergy losses) it is possible to assess the production costs of each product (electric power and heat) and the exergetic and exergoeconomic cost of each flow in a cogeneration plant to assist in decision-marketing procedures concerning to plant design, investment, operation and allocations of research funds. Thermo economic analysis of Biomass Integrated Gasification Gas Turbine Combined Cycle (BIG GT CC) cogeneration plant for its applications in sugar cane mills brings the following results: the global exergetic efficiency is low; the highest irreversibilities occur in the following equipment, by order: scrubber (38%), gas turbine (16%), dryer (12%), gasifier and HRSG (6%); due to the adopted cost distribution methodology, the unit exergetic cost of the heat (4,11) is lower than electricity (4,71); the lower market price of biomass is one of the most sensible parameter in the possible implementation of BIG-GT technology in sugar cane industry; the production costs are 31 US$/MWh and 32 US$/MWh for electricity and heat, respectively. The electricity cost is, after all, competitive with the actual market price. The electricity and heat costs are lower or almost equal than other values reported for actual Rankine cycle cogeneration plants. (author)

The repertoire of olfactory C family G protein-coupled receptors in zebrafish: candidate chemosensory receptors for amino acids

Directory of Open Access Journals (Sweden)

Ngai John

2006-12-01

Full Text Available Abstract Background Vertebrate odorant receptors comprise at least three types of G protein-coupled receptors (GPCRs: the OR, V1R, and V2R/V2R-like receptors, the latter group belonging to the C family of GPCRs. These receptor families are thought to receive chemosensory information from a wide spectrum of odorant and pheromonal cues that influence critical animal behaviors such as feeding, reproduction and other social interactions. Results Using genome database mining and other informatics approaches, we identified and characterized the repertoire of 54 intact "V2R-like" olfactory C family GPCRs in the zebrafish. Phylogenetic analysis – which also included a set of 34 C family GPCRs from fugu – places the fish olfactory receptors in three major groups, which are related to but clearly distinct from other C family GPCRs, including the calcium sensing receptor, metabotropic glutamate receptors, GABA-B receptor, T1R taste receptors, and the major group of V2R vomeronasal receptor families. Interestingly, an analysis of sequence conservation and selective pressure in the zebrafish receptors revealed the retention of a conserved sequence motif previously shown to be required for ligand binding in other amino acid receptors. Conclusion Based on our findings, we propose that the repertoire of zebrafish olfactory C family GPCRs has evolved to allow the detection and discrimination of a spectrum of amino acid and/or amino acid-based compounds, which are potent olfactory cues in fish. Furthermore, as the major groups of fish receptors and mammalian V2R receptors appear to have diverged significantly from a common ancestral gene(s, these receptors likely mediate chemosensation of different classes of chemical structures by their respective organisms.

Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing

Science.gov (United States)

Lo, David; Weng, Jingning; Liu, xiaohong; Yang, Juhua; He, Fen; Wang, Yun; Liu, Xuyang

2016-01-01

PURPOSE To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP). METHODS All subjects in this family underwent a complete ophthalmic examination. Targeted-capture next generation sequencing (NGS) was performed on the proband to detect variants. All variants were verified in the remaining family members by PCR amplification and Sanger sequencing. RESULTS All the affected subjects in this pedigree were diagnosed with retinitis pigmentosa (RP). The compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations in the Crumbs homolog 1 (CRB1) gene were identified in all the affected patients but not in the unaffected individuals in this family. These mutations were inherited from their parents, respectively. CONCLUSION The novel compound heterozygous mutations in CRB1 were identified in a Chinese pedigree with ARRP using targeted-capture next generation sequencing. After evaluating the significant heredity and impaired protein function, the compound heterozygous c.138delA (p.Asp47IlefsX24) and c.1841G>T (p.Gly614Val) mutations are the causal genes of early onset ARRP in this pedigree. To the best of our knowledge, there is no previous report regarding the compound mutations. PMID:27806333

Colletotrichine B, a new sesquiterpenoid from Colletotrichum gloeosporioides GT-7, a fungal endophyte of Uncaria rhynchophylla.

Science.gov (United States)

Chen, Xiao-Wei; Yang, Zhong-Duo; Li, Xiao-Fei; Sun, Jian-Hui; Yang, Li-Jun; Zhang, Xin-Guo

2018-02-08

One new compound, colletotrichine B (1), was produced by the fungal Colletotrichum gloeosporioides GT-7. The structure of 1 was elucidated on the basis of spectroscopic analysis and X-ray crystallographic analysis. Monoamine oxidase (MAO), acetylcholinesterase (AChE) and phosphoinositide 3-kinase (PI3Kα) inhibitory activity of 1 was also evaluated. Compound 1 showed only AChE inhibiting activity with IC 50 value of 38.0 ± 2.67 μg/mL.

Studies of a deep burn fuel cycle for the incineration of military plutonium in the GT-MHR using the Monte-Carlo burnup code

International Nuclear Information System (INIS)

Talamo, A.; Gudowski, W.

2004-01-01

The deep burn fuel cycle for the incineration of military plutonium in the GT-MHR is studied using the Monte-Carlo burnup code. The irradiation is DF is so rich in fissile isotopes that the TF cannot guarantee a negative reactive feedback, and the presence of erbium as burnable poison is absolutely necessary for the reactivity safety reasons. At beginning of life (BOL) the fuel composed of DF, consisting of fresh military plutonium, after an irradiation period of three years the fuel is reprocessed into post driver fuel (PDF). The mass flow of the GT-MHR fuelled by military plutonium at the equilibrium of the fuel composition shows that 66% of 239 Pu is burned in three years and 92% in six years. (authors)

Drylands face potential threat under 2 °C global warming target

Science.gov (United States)

Huang, Jianping; Yu, Haipeng; Dai, Aiguo; Wei, Yun; Kang, Litai

2017-06-01

The Paris Agreement aims to limit global mean surface warming to less than 2 °C relative to pre-industrial levels. However, we show this target is acceptable only for humid lands, whereas drylands will bear greater warming risks. Over the past century, surface warming over global drylands (1.2-1.3 °C) has been 20-40% higher than that over humid lands (0.8-1.0 °C), while anthropogenic CO2 emissions generated from drylands (~230 Gt) have been only ~30% of those generated from humid lands (~750 Gt). For the twenty-first century, warming of 3.2-4.0 °C (2.4-2.6 °C) over drylands (humid lands) could occur when global warming reaches 2.0 °C, indicating ~44% more warming over drylands than humid lands. Decreased maize yields and runoff, increased long-lasting drought and more favourable conditions for malaria transmission are greatest over drylands if global warming were to rise from 1.5 °C to 2.0 °C. Our analyses indicate that ~38% of the world's population living in drylands would suffer the effects of climate change due to emissions primarily from humid lands. If the 1.5 °C warming limit were attained, the mean warming over drylands could be within 3.0 °C therefore it is necessary to keep global warming within 1.5 °C to prevent disastrous effects over drylands.

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

Science.gov (United States)

Zhai, Wei; Jin, Xin; Gong, Yan; Qu, Ling-Hui; Zhao, Chen; Li, Zhao-Hui

2015-01-01

To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2). The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR) and Sanger sequencing. The patient in the family occurred hearing loss (HL) and retinitis pigmentosa (RP) without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls. We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

Status of GT-MHR with emphasis on the power conversion system

International Nuclear Information System (INIS)

Neylan, A.J.; Silady, F.A.; Kohler, B.P.; Lomba, D.; Rose, R.

1996-01-01

The conceptual design of the Gas Turbine-Modular Helium Reactor (GT-MHR) has made significant progress in the past year. Evaluation of an external versus internal (submerged) generator and modifications as a result of an internal seal task force were completed. Significant progress was also made on the design of the generator utilizing existing technology. Conceptual design of the turbocompressor was confirmed, including extensive evaluation of the entire turbomachine (turbocompressor and generator) rotor dynamics. Results concluded in a revised configuration for the location of magnetic bearings supporting the entire machine. Integration of the turbomachine with the recuperator, precooler, intercooler and internal ducts and seals progressed to improved maintenance and operation. This resulted in some changes and improvements in the overall arrangement of the power conversion module. The paper also provides a summary of the fuel and safety assessment progress. (author). 6 refs, 7 figs, 3 tabs

Baseline Polymorphisms and Emergence of Drug Resistance in the NS3/4A Protease of Hepatitis C Virus Genotype 1 following Treatment with Faldaprevir and Pegylated Interferon Alpha 2a/Ribavirin in Phase 2 and Phase 3 Studies.

Science.gov (United States)

Berger, K L; Scherer, J; Ranga, M; Sha, N; Stern, J O; Quinson, A-M; Kukolj, G

2015-10-01

Analysis of data pooled from multiple phase 2 (SILEN-C1 to 3) and phase 3 studies (STARTVerso1 to 4) of the hepatitis C virus (HCV) nonstructural protein 3/4A (NS3/4A) protease inhibitor faldaprevir plus pegylated interferon alpha/ribavirin (PR) provides a comprehensive evaluation of baseline and treatment-emergent NS3/4A amino acid variants among HCV genotype-1 (GT-1)-infected patients. Pooled analyses of GT-1a and GT-1b NS3 population-based pretreatment sequences (n = 3,124) showed that faldaprevir resistance-associated variants (RAVs) at NS3 R155 and D168 were rare (<1%). No single, noncanonical NS3 protease or NS4A cofactor baseline polymorphism was associated with a reduced sustained virologic response (SVR) to faldaprevir plus PR, including Q80K. The GT-1b NS3 helicase polymorphism T344I was associated with reduced SVR to faldaprevir plus PR (P < 0.0001) but was not faldaprevir specific, as reduced SVR was also observed with placebo plus PR. Among patients who did not achieve SVR and had available NS3 population sequences (n = 507 GT-1a; n = 349 GT-1b), 94% of GT-1a and 83% of GT-1b encoded faldaprevir treatment-emergent RAVs. The predominant GT-1a RAV was R155K (88%), whereas GT-1b encoded D168 substitutions (78%) in which D168V was predominant (67%). The novel GT-1b NS3 S61L substitution emerged in 7% of virologic failures as a covariant with D168V, most often among the faldaprevir breakthroughs; S61L in combination with D168V had a minimal impact on faldaprevir susceptibility compared with that for D168V alone (1.5-fold difference in vitro). The median time to loss of D168 RAVs among GT-1b-infected patients who did not have a sustained virologic response at 12 weeks posttreatment (non-SVR12) after virologic failure was 5 months, which was shorter than the 14 months for R155 RAVs among GT-1a-infected non-SVR12 patients, suggesting that D168V is less fit than R155K in the absence of faldaprevir selective pressure. Copyright © 2015, American Society for

Preliminary biological sampling of GT3 and BT1 cores and the microbial community dynamics of existing subsurface wells

Science.gov (United States)

Kraus, E. A.; Stamps, B. W.; Rempfert, K. R.; Ellison, E. T.; Nothaft, D. B.; Boyd, E. S.; Templeton, A. S.; Spear, J. R.

2017-12-01

Subsurface microbial life is poorly understood but potentially very important to the search for life on other planets as well as increasing our understanding of Earth's geobiological processes. Fluids and rocks of actively serpentinizing subsurface environments are a recent target of biological study due to their apparent ubiquity across the solar system. Areas of serpentinization can contain high concentrations of molecular hydrogen, H2, that can serve as the dominant fuel source for subsurface microbiota. Working with the Oman Drilling Project, DNA and RNA were extracted from fluids of seven alkaline wells and two rock cores from drill sites GT3 and BT1 within the Samail ophiolite. DNA and cDNA (produced via reverse transcription from the recovered RNA) were sequenced using universal primers to identify microbial life across all three domains. Alkaline subsurface fluids support a microbial community that changes with pH and host-rock type. In peridotite with pH values of >11, wells NSHQ 14 and WAB 71 have high relative abundances of Meiothermus, Methanobacterium, the family Nitrospiraceae, and multiple types of the class Dehalococcoidia. While also hosted in peridotite but at pH 8.5, wells WAB 104 and 105 have a distinct, more diverse microbial community. This increased variance in community make-up is seen in wells that sit near/at the contact of gabbro and peridotite formations as well. Core results indicate both sampled rock types host a very low biomass environment subject to multiple sources of contamination during the drilling process. Suggestions for contaminant reduction, such as having core handlers wear nitrile gloves and flame-sterilizing the outer surfaces of core rounds for biological sampling, would have minimal impact to overall ODP coreflow and maximize the ability to better understand in situ microbiota in this low-biomass serpentinizing subsurface environment. While DNA extraction was successful with gram amounts of crushed rock, much can be

Synergistic Radioprotection by Gamma-Tocotrienol and Pentoxifylline: Role of cAMP Signaling

International Nuclear Information System (INIS)

Kulkarni, Shilpa; Chakraborty, Kushal; Kumar, K. Sree; Kao, Tzu-Cheg; Hauer-Jensen, Martin; Ghosh, Sanchita P.

2013-01-01

Purpose. This study was designed to determine the efficacy and mechanisms of radioprotection by the combination of gamma-tocotrienol (GT3) and pentoxifylline (PTX) against acute radiation injury. Materials and Methods. Post-irradiation survival was monitored to determine the most efficacious dose and time of administration of PTX. Dose reduction factor (DRF) was calculated to compare the radioprotective efficacy of the combination. To determine the mechanism of synergistic radioprotection by the combination, mevalonate or calmodulin were coadministered with the GT3-PTX combination. Mevalonate was used to reverse the inhibitory effect of GT3 on 3-hydroxy-3-methyl-glutaryl-CoA reductase (HMGCR), and calmodulin was used to reverse the inhibition of phosphodiesterase (PDE) by PTX. Results. The combination was most effective when 200 mg/kg of PTX was administered 15 min before irradiation along with 200 mg/kg of GT3 (−24 h) and resulted in a DRF of 1.5. White blood cells and neutrophil counts showed accelerated recovery in GT3-PTX-treated groups compared to GT3. Mevalonate had no effect on the radioprotection of GT3-PTX; calmodulin abrogated the synergistic radioprotection by GT3-PTX. Conclusion. The mechanism of radioprotection by GT3-PTX may involve PDE inhibition

Cytochrome c6B of Synechococcus sp. WH 8102 – Crystal structure and basic properties of novel c6-like family representative

International Nuclear Information System (INIS)

Zatwarnicki, Pawel; Barciszewski, Jakub; Krzywda, Szymon; Jaskolski, Mariusz; Kolesinski, Piotr; Szczepaniak, Andrzej

2014-01-01

Highlights: • Crystal structure of cytochrome c 6B from Synechococcus sp. WH 8102 was solved. • Basic biophysical properties of cytochrome c 6B were determined. • Cytochrome c 6B exhibits similar architecture to cytochrome c 6 . • Organization of heme binding pocket of cytochrome c 6B differs from that of c 6 . • Midpoint potential of cytochrome c 6B is significantly lower than of cytochrome c 6 . - Abstract: Cytochromes c are soluble electron carriers of relatively low molecular weight, containing single heme moiety. In cyanobacteria cytochrome c 6 participates in electron transfer from cytochrome b 6 f complex to photosystem I. Recent phylogenetic analysis revealed the existence of a few families of proteins homologous to the previously mentioned. Cytochrome c 6A from Arabidopsis thaliana was identified as a protein responsible for disulfide bond formation in response to intracellular redox state changes and c 550 is well known element of photosystem II. However, function of cytochromes marked as c 6B , c 6C and c M as well as the physiological process in which they take a part still remain unidentified. Here we present the first structural and biophysical analysis of cytochrome from the c 6B family from mesophilic cyanobacteria Synechococcus sp. WH 8102. Purified protein was crystallized and its structure was refined at 1.4 Å resolution. Overall architecture of this polypeptide resembles typical I-class cytochromes c. The main features, that distinguish described protein from cytochrome c 6 , are slightly red-shifted α band of UV–Vis spectrum as well as relatively low midpoint potential (113.2 ± 2.2 mV). Although, physiological function of cytochrome c 6B has yet to be determined its properties probably exclude the participation of this protein in electron trafficking between b 6 f complex and photosystem I

Use of λgt11 to isolate genes for two pseudorabies virus glycoproteins with homology to herpes simplex virus and varicella-zoster virus glycoproteins

International Nuclear Information System (INIS)

Petrovskis, E.A.; Timmins, J.G.; Post, L.E.

1986-01-01

A library of pseudorabies virus (PRV) DNA fragments was constructed in the expression cloning vector λgt11. The library was screened with antisera which reacted with mixtures of PRV proteins to isolate recombinant bacteriophages expressing PRV proteins. By the nature of the λgt11 vector, the cloned proteins were expressed in Escherichia coli as β-galactosidase fusion proteins. The fusion proteins from 35 of these phages were purified and injected into mice to raise antisera. The antisera were screened by several different assays, including immunoprecipitation of [ 14 C]glucosamine-labeled PRV proteins. This method identified phages expressing three different PRV glycoproteins: the secreted glycoprotein, gX; gI; and a glycoprotein that had not been previously identified, which we designate gp63. The gp63 and gI genes map adjacent to each other in the small unique region of the PRV genome. The DNA sequence was determined for the region of the genome encoding gp63 and gI. It was found that gp63 has a region of homology with a herpes simplex virus type 1 (HSV-1) protein, encoded by US7, and also with varicella-zoster virus (VZV) gpIV. The gI protein sequence has a region of homology with HSV-1 gE and VZV gpI. It is concluded that PRV, HSV, and VZV all have a cluster of homologous glycoprotein genes in the small unique components of their genomes and that the organization of these genes is conserved

Major Components of Metabolic Parameters and Nutritional Intakes in Different Genotypes of Adiponectin +276 G>T Gene Polymorphism in Non-Diabetes and Non-Alcoholic Iranian Fatty Liver Patients.

Science.gov (United States)

Mohseni, Fatemeh; Moghbelinejad, Sahar; Najafipour, Reza

2017-01-01

Genetic and environmental factors are both involved in the etiology of Non-Alcoholic Fatty Liver Disease (NAFLD). Among the genetic factors, certain polymorphisms of adiponectin gene are associated with NAFLD. In the current study, we investigated the association between metabolic parameters with different genotypes of adiponectin +276 G>T polymorphism among the Iranian NAFLD patients, and the effect of nutritional intake with development of NAFLD. In this study, 75 patients with NAFLD and 76 healthy individuals were enrolled. Dietary intakes were assessed using a semi-quantitative Food-Frequency Questionnaire (FFQ). Body Mass Index (BMI) and Waist to Hip Ratio (WHR) were calculated. Biochemical assays including FSG (Fasting Serum Glucose), liver enzymes, lipid profiles, Malondialdehyde, insulin resistance and Total Antioxidant Capacity (TAC) were measured after 12 hr fasting. Gene polymorphism study was done by using of sequencing method. Although, T allele frequency was more prevalent in patients with NAFLD than control, adiponectin +276 G>T polymorphism was not associated with risk of NAFLD. Among the metabolic parameters, TAC in TT genotype was significantly lower 1.44(0.69 to 2.81) p>0.05, AST in GT, GG genotypes, and ALT in all three genotypes were higher in NAFLD patients in compared to healthy subjects (pconsumption and vitamin E intake as compared to control group with the same genotype (pstudy, we showed the association of different genotypes of +276 G>T polymorphism in adiponectin gene with some metabolic parameters.

Structural basis for antagonizing a host restriction factor by C7 family of poxvirus host-range proteins

OpenAIRE

Meng, Xiangzhi; Krumm, Brian; Li, Yongchao; Deng, Junpeng; Xiang, Yan

2015-01-01

Productive viral replication requires overcoming many barriers posed by the host innate immune system. Human sterile alpha motif domain-containing 9 (SAMD9) is a newly identified antiviral factor that is specifically targeted by poxvirus proteins belonging to the C7 family of host-range factors. Here we provide the first, to our knowledge, atomic view of two functionally divergent proteins from the C7 family and determine the molecular basis that dictates whether they can target SAMD9 effecti...

One Size Does Not Fit All: Contextualising Family Physical Activity Using a Write, Draw, Show and Tell Approach.

Science.gov (United States)

Noonan, Robert J; Fairclough, Stuart J; Knowles, Zoe R; Boddy, Lynne M

2017-07-14

Understanding family physical activity (PA) behaviour is essential for designing effective family-based PA interventions. However, effective approaches to capture the perceptions and "lived experiences" of families are not yet well established. The aims of the study were to: (1) demonstrate how a "write, draw, show and tell" (WDST) methodological approach can be appropriate to family-based PA research, and (2) present two distinct family case studies to provide insights into the habitual PA behaviour and experiences of a nuclear and single-parent family. Six participants (including two "target" children aged 9-11 years, two mothers and two siblings aged 6-8 years) from two families were purposefully selected to take part in the study, based on their family structure. Participants completed a paper-based PA diary and wore an ActiGraph GT9X accelerometer on their left wrist for up to 10 weekdays and 16 weekend days. A range of WDST tasks were then undertaken by each family to offer contextual insight into their family-based PA. The selected families participated in different levels and modes of PA, and reported contrasting leisure opportunities and experiences. These novel findings encourage researchers to tailor family-based PA intervention programmes to the characteristics of the family.

Effect of storage time at -20°C on markers used for assessment of renal damage in children: albumin, γ-glutamyl transpeptidase, N-acetyl-β-D-glucosaminidase and α1-microglobulin.

Science.gov (United States)

Trachtenberg, Felicia; Barregard, Lars

2010-11-01

The objective of this study is to examine the influence of storage time at -20°C on the concentration of albumin, γ-glutamyl transpeptidase (γ-GT), N-acetyl-β-D-glucosaminidase (NAG), α(1)-microglobulin (A1M) and creatinine in a large sample of healthy children. The New England Children's Amalgam Trial followed 534 children, aged 6-10 at baseline, for 5 years, with annual urine collections. Urine samples were analysed for creatinine, albumin, γ-GT, NAG and A1M concentrations. Repeated measures analysis of covariance was used to model the effect of storage time on these concentrations. The γ-GT concentration decreased significantly with storage time at -20°C. There was also a limited decrease in NAG. Albumin, A1M and creatinine concentrations did not appear to be affected by storage time at -20°C. If it is necessary to interpret results from samples stored for a long time at -20°C, it is advisable to account for storage time in statistical models.

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

Directory of Open Access Journals (Sweden)

Wei Zhai

2015-08-01

Full Text Available AIM:To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2.METHODS:The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR and Sanger sequencing.RESULTS:The patient in the family occurred hearing loss (HL and retinitis pigmentosa (RP without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls.CONCLUSION:We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

ErpC, a member of the complement regulator-acquiring family of surface proteins from Borrelia burgdorferi, possesses an architecture previously unseen in this protein family

International Nuclear Information System (INIS)

Caesar, Joseph J. E.; Johnson, Steven; Kraiczy, Peter; Lea, Susan M.

2013-01-01

The structure of ErpC, a member of the complement regulator-acquiring surface protein family from B. burgdorferi, has been solved, providing insights into the strategies of complement evasion by this zoonotic bacterium and suggesting a common architecture for other members of this protein family. Borrelia burgdorferi is a spirochete responsible for Lyme disease, the most commonly occurring vector-borne disease in Europe and North America. The bacterium utilizes a set of proteins, termed complement regulator-acquiring surface proteins (CRASPs), to aid evasion of the human complement system by recruiting and presenting complement regulator factor H on its surface in a manner that mimics host cells. Presented here is the atomic resolution structure of a member of this protein family, ErpC. The structure provides new insights into the mechanism of recruitment of factor H and other factor H-related proteins by acting as a molecular mimic of host glycosaminoglycans. It also describes the architecture of other CRASP proteins belonging to the OspE/F-related paralogous protein family and suggests that they have evolved to bind specific complement proteins, aiding survival of the bacterium in different hosts

Research on vibration properties of auxiliary bearing cage used in HTR-10 GT project

International Nuclear Information System (INIS)

Qin Qingquan; Yang Guojun; Shi Zhengang; Yu Suyuan

2009-01-01

Auxiliary Bearings (ABs) is one of the most important parts in Active Magnetic Bearing (AMB) system, which was used in HTR-10 GT project. This paper uses finite element method to analyze the centrifugal stress and free vibration properties of the cage according to its work condition. And different geometric parameters of the cage that has effects on its vibration performance are discussed. The results show that the highest centrifugal stress is in the middle of the cage side sill. The low odder vibration modes of the cage can be induced when the auxiliary bearings are working. Proper geometric parameters and ball pocket number can enhance the performance of the cage. (authors)

Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD)

Energy Technology Data Exchange (ETDEWEB)

Magracheva, Eugenia; Kozlov, Serguei; Stewart, Colin L.; Wlodawer, Alexander; Zdanov, Alexander; (NCI)

2009-08-07

Proteins of the A-type lamin family, which consists of two members, lamin A and lamin C, are the major components of a thin proteinaceous filamentous meshwork, the lamina, that underlies the inner nuclear membrane. A-type lamins have recently become the focus of extensive functional studies as a consequence of the linking of at least eight congenital diseases to mutations in the lamin A/C gene (LMNA). This spectrum of pathologies, which mostly manifest themselves as dominant traits, includes muscle dystrophies, dilated cardiomyopathies, the premature aging syndrome Hutchinson-Guilford progeria and familial partial lipodystrophy (FPLD). The crystal structure of the lamin A/C mutant R482W, a variant that causes FPLD, has been determined at 1.5 {angstrom} resolution. A completely novel aggregation state of the C-terminal globular domain and the position of the mutated amino-acid residue suggest means by which the mutation may affect lamin A/C-protein and protein-DNA interactions.

A new family of thermal donors generated around 450 °C in phosphorus-doped Czochralski silicon

Science.gov (United States)

Kamiura, Yoichi; Hashimoto, Fumio; Yoneta, Minoru

1989-01-01

We have discovered a new family of oxygen-related double donors [new thermal donors (NTD's)] generated around 450 °C in phosphorus-doped Czochralski silicon by combining deep-level transient spectroscopy with Hall measurements. This new family was well distinguished from the normal family of thermal donors (TD's) currently studied so far. Our results have shown that both families of thermal donors exhibit qualitatively the same kinetic behavior. Namely, as the annealing time increases, their ionization energy of levels continuously decrease with their densities increasing until the maxima and then become constant with their densities decreasing. However, there are significantly quantitative differences between the both families; NTD's have shallower levels, considerably smaller generation rates, and higher thermal stability than TD's. Sufficiently prolonged annealing for more than 105 min around 450 °C or short donor-killing annealing for 20 min at 650 °C completely annihilates TD's, leaving only NTD's, of which the most stable and therefore most shallow species have been suggested by our Hall measurements to have donor levels at 0.04 and 0.09 eV below the conduction-band edge. The density of interstitial oxygen still continues to decrease even after prolonged annealing for more than 105 min, where NTD's are present in a stable condition in a concentration of 1×1015 cm-3. NTD's may correlate with the NL10 electron paramagnetic resonance center because of similarities in their generation kinetics. We have suggested a hypothesis that NTD's have similar defect structures as TD's and that an unknown nucleus involved in the core of NTD's plays an essential role in lowering their ionization energy of levels and generation rates and also in stabilizing their donor activity.

Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families.

Science.gov (United States)

Pondman, Kirsten M; Brinkman, Jacoline W; van der Straaten, Hanneke M; Stroobants, An K; Harteveld, Cornelis L

2018-01-01

We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb Nouakchott. Of the second family we tested, only the proband, a 56-year-old Dutch female was a Hb Nouakchott carrier. Hematological analyses of these cases showed the anomaly behaves as a silent Hb variant without clinical consequences. The Hb variant remained unnoticed using high performance liquid chromatography (HPLC), while an additional peak was detected by capillary electrophoresis (CE). These independent findings of Hb Nouakchott indicate that this Hb variant might not be very rare, but simply remains under diagnosed depending on the Hb separation technique used.

The ''C'' family of Ni-Cr-Mo allloys' partnership with the chemical process industry: the last 70 years

International Nuclear Information System (INIS)

Agarwal, D.C.; Herda, W.R.

1997-01-01

The ''C'' family of alloys, the original being Hastelloy trademark alloy C (1930's) was an innovative optimization of Ni-Cr alloys having good resistance to oxidizing corrosive media and Ni-Mo alloys with superior resistance to reducing corrosive media. This combination resulted in the most versatile corrosion resistant alloy in the ''Ni-Cr-Mo'' alloy family, with exceptional corrosion resistance in a wide variety of severe corrosive environments typically encountered in CPI and other industries. The alloy also exhibited excellent resistance to pitting and crevice corrosion attack in low pH, high chloride oxidizing environments and had virtual immunity to chloride stress corrosion cracking. These properties allowed this alloy to serve the industrial needs for many years, although it had some limitations. The decades of the 1960's (alloy C-276), 1970's (alloy C-4), 1980's (alloy C-22 and 622) and 1990's (alloy 59, alloy 686 and alloy C-2000) saw newer alloy developments with improvements in corrosion resistance, which not only overcame the limitations of alloy C, but further expanded the horizons of applications as the needs of the CPI became more critical, severe and demanding. Today the originally alloy ''C'' of the 1930's is practically obsolete except for some usage in form of castings. This paper presents a chronology of the various corrosion resistant alloy developments during this century, with special emphasis on the last 70 years evolution in the ''C'' family of Ni-Cr-Mo alloys and their applications. (orig.)

Operational, control and protective system transient analyses of the closed-cycle GT-HTGR power plant

International Nuclear Information System (INIS)

Openshaw, F.L.; Chan, T.W.

1980-07-01

This paper presents a description of the analyses of the control/protective system preliminary designs for the gas turbine high-temperature gas-cooled reactor (GT-HTGR) power plant. The control system is designed to regulate reactor power, control electric load and turbine speed, control the temperature of the helium delivered to the turbines, and control thermal transients experienced by the system components. In addition, it provides the required control programming for startup, shutdown, load ramp, and other expected operations. The control system also handles conditions imposed on the system during upset and emergency conditions such as loop trip, reactor trip, or electrical load rejection

Function and expression of the epithelial Ca(2+) channel family: comparison of mammalian ECaC1 and 2.

NARCIS (Netherlands)

Hoenderop, J.G.J.; Vennekens, R.; Müller, D.G.; Prenen, J.; Droogmans, G.; Bindels, R.J.M.; Nilius, B.

2001-01-01

1. The epithelial Ca(2+) channel (ECaC) family represents a unique group of Ca(2+)-selective channels that share limited homology to the ligand-gated capsaicin receptors, the osmolarity-sensitive channel OTRPC4, as well as the transient receptor potential family. Southern blot analysis demonstrated

Visualisasi Hasil Mesin Uji Tarik Gotech GT-7010-D2E dalam Bentuk Grafik secara Real Time

OpenAIRE

Anggoro Suryo Pramudyo; Andi Rachmansyah; Suhendar

2014-01-01

Gotech GT-7010-D2E is a tensile testing machine used in Metallurgical Engineering Laboratory UNTIRTA. The machine are used both for practical and Materials Engineering specimen testing demanded by several industries. The machine can perform tensile tests well, but for the analysis is done manually, so it requires a lot of time and accuracy of the analysis results are not very accurate. Therefore, it’s needed a software that can analyze the results of the tensile test in the form of graphs in ...

Simulation and thermoeconomic analysis of different configurations of gas turbine (GT)-based dual-purpose power and desalination plants (DPPDP) and hybrid plants (HP)

International Nuclear Information System (INIS)

Rensonnet, Thibaut; Uche, Javier; Serra, Luis

2007-01-01

This paper contains a simulation and a thermoeconomic analysis of several configurations of gas turbine (GT)-based dual-purpose power and desalination plants (DPPDP): Gas turbine with reverse osmosis (GT+RO), combined cycle with reverse osmosis (CC+RO), combined cycle with multi-effect distillation (CC+MED) and two different hybrid plant (HP) arrangements combining CC, MED and RO (CC+MED+RO, CC+MED+RO bis ). The last two configurations only differ from the feed solution to the MED units (raw seawater or brine coming from the RO discharge). A complete thermodynamic simulation at both design and at part load conditions has been made, as well as an exergy and an exergo-economic (thermoeconomic) analysis of each configuration, in order to compare the evolution of the water and electricity cost for different arrangements. The results show that even for a significantly reduced fuel cost (1.42 $/GJ), the CC is much more profitable than a GT operating in open cycle, with electricity cost values of 1.647 and 2.166 c$/kWh, respectively. As was expected, RO is more efficient and profitable than MED desalination processes, the difference in the obtained desalted water cost being significant. In the hybrid configuration with MED fed by the RO brine discharge, a decrease in the equivalent electrical consumption of nearly 2 kWh/m 3 was achieved, but even in this case RO was more efficient (14.15 vs. 4.048 kWh/m 3 ). The evolution of electricity cost in each configuration is more similar at part load operation than at full load, but in the case of water cost, RO is once again more profitable and less sensitive to load variations. Costs given in this paper correspond to investment and fuel costs. Further, profitability and operation strategies of HP, i.e., DPPDP combining distillation and membrane processes, are also analyzed. It is shown that HP can be more profitable than RO plants in the case of increasing the water production capacity of existing DPPDP, because the profit

[The use of a robot-assisted Gait Trainer GT1 in patients in the acute period of cerebral stroke: a pilot study].

Science.gov (United States)

Skvortsova, V I; Ivanova, G E; Kovrazhkina, E A; Rumiantseva, N A; Staritsyn, A N; Suvorov, A Iu; Sogomonian, E K

2008-01-01

An aim of the study was to evaluate efficacy of using Gait Trainer GT1, a robot-assisted gait trainer with a system of body-weight support, for the rehabilitation of gait in patients in the acute period of cerebral stroke. A main group included 30 patients in the acute period of ischemic and hemorrhage stroke and a control group--20 age- and sex matched patients. Patients of both groups had daily kinesitherapy sessions with a rehabilitator. Patients of the main group had additional sessions on the Gait Trainer GT1 from the moment of functional readiness to adequate orthostatic probe. Efficacy of rehabilitation was assessed in the four following phases: the first verticalization of patient in the standing position, adaptation of patient to the standing position, walking with assistance, independent walking. Muscular power (scores) in all muscles of low extremities, muscle tonus (the Ashfort scale), amplitude of tendinous reflexes on the reflexes scale, sensory disturbances and discoordination syndromes (specially elaborated scales), pathological positions in the axial muscular system and extremities, functional status (a steadiness scale, the Berg balance scale, the Barthel scale, 5 m test) were assessed in each phase. Stabilometry was conducted for objective evaluation of vertical balance function. The duration of sessions on GT1 and a number of exercises were depended on the patient's tolerability to physical activity. Percentage of relief was determined by the ability of a patient to balance in the standing position. Each patient had 8-10 sessions. A significant improvement of the functional status: ability to balance in standing position, walking, increase of self-care skills were observed in both groups. No significant differences in the level of functional improvements were found compared to the control group. However some peculiarities of the rehabilitation of primary neurologic deficit were observed during CT1-trainings: the normalization of muscle tonus

Chronic hepatitis C infection and liver disease in HIV-coinfected patients in Asia.

Science.gov (United States)

Durier, N; Yunihastuti, E; Ruxrungtham, K; Kinh, N V; Kamarulzaman, A; Boettiger, D; Widhani, A; Avihingsanon, A; Huy, B V; Syed Omar, S F B; Sanityoso, A; Chittmittrapap, S; Dung, N T H; Pillai, V; Suwan-Ampai, T; Law, M; Sohn, A H; Matthews, G

2017-03-01

Data on markers of hepatitis C virus (HCV) disease in HIV-HCV-coinfected patients in resource-limited settings are scarce. We assessed HCV RNA, HCV genotype (GT), IL28B GT and liver fibrosis (FibroScan ® ) in 480 HIV-infected patients with positive HCV antibody in four HIV treatment centres in South-East Asia. We enrolled 165 (34.4%) patients in Jakarta, 158 (32.9%) in Bangkok, 110 (22.9%) in Hanoi and 47 (9.8%) in Kuala Lumpur. Overall, 426 (88.8%) were male, the median (IQR) age was 38.1 (34.7-42.5) years, 365 (76.0%) reported HCV exposure through injecting drug use, and 453 (94.4%) were on combination antiretroviral therapy. The median (IQR) CD4 count was 446 (325-614) cells/mm 3 and 208 (94.1%) of 221 patients tested had HIV-1 RNA F4). One patient (0.3%) had FibroScan ® failure. In conclusion, a high proportion of HIV-HCV-coinfected patients had chronic HCV infection. HCV GT1 was predominant, and 62% of patients had liver disease warranting prompt treatment (≥F2). © 2016 John Wiley & Sons Ltd.

Colletotrilactam A-D, novel lactams from Colletotrichum gloeosporioides GT-7, a fungal endophyte of Uncaria rhynchophylla.

Science.gov (United States)

Wei, Bo; Yang, Zhong-Duo; Chen, Xiao-Wei; Zhou, Shuang-Yan; Yu, Hai-Tao; Sun, Jing-Yun; Yao, Xiao-Jun; Wang, Yong-Gang; Xue, Hong-Yan

2016-09-01

Four novel lactams, colletotrilactam A-D (1-4), along with six known compounds (5-10) were isolated from the culture broth of Colletotrichum gloeosporioides GT-7, a fungal endophyte of Uncaria rhynchophylla. The structures of these compounds were elucidated by comprehensive NMR spectroscopy. Isolates were tested for monoamine oxidase (MAO) inhibitory activity and compound 9 showed potent MAO inhibitory activity with IC50 value of 8.93±0.34μg/mL, when the IC50 value of iproniazid as a standard was 1.80±0.5μg/mL. Copyright © 2016 Elsevier B.V. All rights reserved.

Differences in [14C]glycerol utilization in normal and familial hypercholesterolemic fibroblasts

International Nuclear Information System (INIS)

Shireman, R.B.; Durieux, J.

1991-01-01

It is known that cultured fibroblasts from familial hypercholesterolemia (FH) patients lack the normal cell receptor for low density lipoprotein (LDL) and that the absence of receptor-mediated transport of LDL cholesterol into these cells results in increased cellular synthesis of cholesterol. After 20 h perincubation in lipid-free medium, cultured FH fibroblasts incorporated significantly greater amounts of [ 14 C]glycerol into cellular lipids than did normal fibroblasts. Relative to the control medium which contained only bovine serum albumin (BSA), preincubation with 5% fetal bovine serum or 50 micrograms LDL/ml decreased [ 14 C]glycerol incorporation by both cell types. FH cells utilized more [ 14 C]glycerol for phospholipid synthesis and less for triglyceride synthesis than normal cells. This study indicates that LDL may be important in the transport of glycerides, as well as cholesterol, to cells

Downregulation of β1,4-galactosyltransferase 1 inhibits CDK11p58-mediated apoptosis induced by cycloheximide

International Nuclear Information System (INIS)

Li Zejuan; Wang Hanzhou; Zong Hongliang; Sun Qing; Kong Xiangfei; Jiang Jianhai; Gu Jianxin

2005-01-01

Cyclin-dependent kinase 11 (CDK11; also named PITSLRE) is part of the large family of p34 cdc2 -related kinases whose functions appear to be linked with cell cycle progression, tumorigenesis, and apoptotic signaling. The mechanism that CDK11 p58 induces apoptosis is not clear. Some evidences suggested β1,4-galactosyltransferase 1 (β1,4-GT 1) might participate in apoptosis induced by CDK11 p58 . In this study, we demonstrated that ectopically expressed β1,4-GT 1 increased CDK11 p58 -mediated apoptosis induced by cycloheximide (CHX). In contrast, RNAi-mediated knockdown of β1,4-GT 1 effectively inhibited apoptosis induced by CHX in CDK11 p58 -overexpressing cells. For example, the cell morphological and nuclear changes were reduced; the loss of cell viability was prevented and the number of cells in sub-G1 phase was decreased. Knock down of β1,4-GT 1 also inhibited the release of cytochrome c from mitochondria and caspase-3 processing. Therefore, the cleavage of CDK11 p58 by caspase-3 was reduced. We proposed that β1,4-GT 1 might contribute to the pro-apoptotic effect of CDK11 p58 . This may represent a new mechanism of β1,4-GT 1 in CHX-induced apoptosis of CDK11 p58 -overexpressing cells

Analysis of hepatitis C NS5A resistance associated polymorphisms using ultra deep single molecule real time (SMRT) sequencing.

Science.gov (United States)

Bergfors, Assar; Leenheer, Daniël; Bergqvist, Anders; Ameur, Adam; Lennerstrand, Johan

2016-02-01

Development of Hepatitis C virus (HCV) resistance against direct-acting antivirals (DAAs), including NS5A inhibitors, is an obstacle to successful treatment of HCV when DAAs are used in sub-optimal combinations. Furthermore, it has been shown that baseline (pre-existing) resistance against DAAs is present in treatment naïve-patients and this will potentially complicate future treatment strategies in different HCV genotypes (GTs). Thus the aim was to detect low levels of NS5A resistant associated variants (RAVs) in a limited sample set of treatment-naïve patients of HCV GT1a and 3a, since such polymorphisms can display in vitro resistance as high as 60000 fold. Ultra-deep single molecule real time (SMRT) sequencing with the Pacific Biosciences (PacBio) RSII instrument was used to detect these RAVs. The SMRT sequencing was conducted on ten samples; three of them positive with Sanger sequencing (GT1a Q30H and Y93N, and GT3a Y93H), five GT1a samples, and two GT3a non-positive samples. The same methods were applied to the HCV GT1a H77-plasmid in a dilution series, in order to determine the error rates of replication, which in turn was used to determine the limit of detection (LOD), as defined by mean + 3SD, of minority variants down to 0.24%. We found important baseline NS5A RAVs at levels between 0.24 and 0.5%, which could potentially have clinical relevance. This new method with low level detection of baseline RAVs could be useful in predicting the most cost-efficient combination of DAA treatment, and reduce the treatment duration for an HCV infected individual. Copyright © 2015 Elsevier B.V. All rights reserved.

Identification of a novel group of putative Arabidopsis thaliana beta-(1,3)-galactosyltransferases

DEFF Research Database (Denmark)

Qu, Yongmei; Egelund, Jack; Gilson, Paul R

2008-01-01

To begin biochemical and molecular studies on the biosynthesis of the type II arabinogalactan chains on arabinogalactan-proteins (AGPs), we adopted a bioinformatic approach to identify and systematically characterise the putative galactosyltransferases (GalTs) responsible for synthesizing the beta......-(1,3)-Gal linkage from CAZy GT-family-31 from Arabidopsis thaliana. These analyses confirmed that 20 members of the GT-31 family contained domains/motifs typical of biochemically characterised beta-(1,3)-GTs from mammalian systems. Microarray data confirm that members of this family are expressed......,3)-GalT activity. This bioinformatic/molecular study of CAZy GT-family-31 was validated by the recent report of Strasser et al. (Plant Cell 19:2278-2292, 2007) that another member of this family (At1g26810; GALT1) encodes a beta-(1,3)-GalT involved in the biosynthesis of the Lewis a epitope of N...

Retargeting the Clostridium botulinum C2 toxin to the neuronal cytosol.

Science.gov (United States)

Pavlik, Benjamin J; Hruska, Elizabeth J; Van Cott, Kevin E; Blum, Paul H

2016-03-30

Many biological toxins are known to attack specific cell types, delivering their enzymatic payloads to the cytosol. This process can be manipulated by molecular engineering of chimeric toxins. Using toxins with naturally unlinked components as a starting point is advantageous because it allows for the development of payloads separately from the binding/translocation components. Here the Clostridium botulinum C2 binding/translocation domain was retargeted to neural cell populations by deleting its non-specific binding domain and replacing it with a C. botulinum neurotoxin binding domain. This fusion protein was used to deliver fluorescently labeled payloads to Neuro-2a cells. Intracellular delivery was quantified by flow cytometry and found to be dependent on artificial enrichment of cells with the polysialoganglioside receptor GT1b. Visualization by confocal microscopy showed a dissociation of payloads from the early endosome indicating translocation of the chimeric toxin. The natural Clostridium botulinum C2 toxin was then delivered to human glioblastoma A172 and synchronized HeLa cells. In the presence of the fusion protein, native cytosolic enzymatic activity of the enzyme was observed and found to be GT1b-dependent. This retargeted toxin may enable delivery of therapeutics to peripheral neurons and be of use in addressing experimental questions about neural physiology.

Post-treatment resistance analysis of hepatitis C virus from phase II and III clinical trials of ledipasvir/sofosbuvir.

Science.gov (United States)

Wyles, David; Dvory-Sobol, Hadas; Svarovskaia, Evguenia S; Doehle, Brian P; Martin, Ross; Afdhal, Nezam H; Kowdley, Kris V; Lawitz, Eric; Brainard, Diana M; Miller, Michael D; Mo, Hongmei; Gane, Edward J

2017-04-01

Ledipasvir/sofosbuvir combination treatment in phase III clinical trials resulted in sustained viral suppression in 94-99% of patients. This study characterized drug resistance in treatment failures, which may help to inform retreatment options. We performed NS5A and NS5B deep sequencing of hepatitis C virus (HCV) from patients infected with genotype (GT) 1 who participated in ledipasvir/sofosbuvir phase II and III clinical trials. Fifty-one of 2144 (2.4%) (42 GT1a and 9 GT1b) treated patients met the criteria for resistance analysis due to virologic failure following the end of treatment. The majority of patients with virologic failure (38 of 51; 74.5%) had detectable ledipasvir-specific resistance-associated substitutions (RASs) at the time of virologic failure (1% deep sequencing cut-off). The percent of patients with NS5A RASs at virologic failure were 37.5%, 66.7%, 94.7% and 100% in patients treated for 6, 8, 12 and 24weeks, respectively. The common substitutions detected at failure were Q30R/H, and/or Y93H/N in GT1a and Y93H in GT1b. At failure, 35.3% (18/51) of virologic failure patients' viruses had two or more NS5A RASs and the majority of patients harbored NS5A RASs conferring a 100-1000-fold (n=10) or >1000-fold (n=23) reduced susceptibility to ledipasvir. One patient in a phase II study with a known ledipasvir RAS at baseline (L31M) developed the S282T sofosbuvir (NS5B) RAS at failure. In GT1 HCV-infected patients treated with ledipasvir/sofosbuvir±ribavirin, virologic failure was rare. Ledipasvir resistance in NS5A was selected or enhanced in most patients with virologic failure, one of whom also developed resistance to sofosbuvir. Clinical studies have shown that combination treatment with ledipasvir/sofosbuvir efficiently cures most patients with genotype 1 hepatitis C infection. For the few patients failing treatment, we show that resistance to ledipasvir was observed in most patients, whereas resistance to sofosbuvir was less common. This has

Chronic hepatitis C infection and liver disease in HIV co-infected patients in Asia

Science.gov (United States)

Durier, Nicolas; Yunihastuti, Evy; Ruxrungtham, Kiat; Van Kinh, Nguyen; Kamarulzaman, Adeeba; Boettiger, David; Widhani, Alvina; Avihingsanon, Anchalee; Huy, Bui Vu; Omar, Sharifah Faridah binti Syed; Sanityoso, Andri; Chittmittrapap, Salyavit; Dung, Nguyen Thi Hoai; Pillai, Veena; Suwan-Ampai, Tuangporn; Law, Matthew; Sohn, Annette H.; Matthews, Gail

2016-01-01

Data on markers of hepatitis C virus (HCV) disease in HIV-HCV co-infected patients in resource-limited settings are scarce. We assessed HCV-RNA, HCV genotype (GT), IL28B GT, and liver fibrosis (FibroScan®) in 480 HIV-infected patients with positive HCV antibody in four HIV treatment centers in South East Asia. We enrolled 165 (34.4%) patients in Jakarta, 158 (32.9%) in Bangkok, 110 (22.9%) in Hanoi, and 47 (9.8%) in Kuala Lumpur. Overall, 426 (88.8%) were male, the median (IQR) age was 38.1 (34.7–42.5) years, 365 (76.0%) reported HCV exposure through injecting drug use, and 453 (94.4%) were on combination antiretroviral therapy. The median (IQR) CD4 count was 446 (325–614) cells/mm3 and 208 (94.1%) of 221 patients tested had HIV-1 RNA F4). One patient (0.3%) had FibroScan® failure. A high proportion of HIV-HCV co-infected patients had chronic HCV infection. HCV GT1 was predominant, and 62% of patients had liver disease warranting prompt treatment (>=F2). PMID:27917597

Efficiency enhancement of GT-MHRs applied on ship propulsion plants

Energy Technology Data Exchange (ETDEWEB)

Ferreiro Garcia, Ramon, E-mail: ferreiro@udc.es [Dept. Industrial Engineering, University of A Coruna, ETSNM, C/Paseo de Ronda, 51, 15011 A Coruna (Spain); Carril, Jose Carbia; Catoira, Alberto DeMiguel; Romero Gomez, Javier [Dept. Energy and Propulsion, University of A Coruna ETSNM, C/Paseo de Ronda, 51, 15011 A Coruna (Spain)

2012-09-15

Highlights: Black-Right-Pointing-Pointer Efficient ship propulsion system powered by HTRs. Black-Right-Pointing-Pointer A conventional Rankine cycle renders high efficiency. Black-Right-Pointing-Pointer The intermediate heat exchanger isolates the nuclear reactor from the process heat application. Black-Right-Pointing-Pointer An intermediate heat exchanger allows the system to be built to non-nuclear standards. - Abstract: High temperature reactors including gas cooled fast reactors and gas turbine modular helium reactors (GT-MHR) may operate as electric power suppliers to be applied on ship propulsion plants. In such propulsion systems performance enhancement can be achieved at effective cost under safety conditions using alternative cycles to the conventional Brayton cycle. Mentioned improvements concern the implementation of an ultra supercritical Rankine cycle, in which water is used as working fluid. The proposed study is carried out in order to achieve performance enhancement on the basis of turbine temperature increasing. The helium cooled high temperature reactor supplies thermal energy to the Rankine cycle via an intermediate heat exchanger (IHE) under safety conditions. The results of the study show that the efficiency of the propulsion plant using a multi-reheat Rankine cycle is significantly improved (from actual 48% to more than 55%) while keeping safety standards.

Prevalence of naturally occurring NS5A resistance-associated substitutions in patients infected with hepatitis C virus subtype 1a, 1b, and 3a, co-infected or not with HIV in Brazil.

Science.gov (United States)

Malta, Fernanda; Gaspareto, Karine Vieira; Lisboa-Neto, Gaspar; Carrilho, Flair José; Mendes-Correa, Maria Cássia; Pinho, João Renato Rebello

2017-11-13

Non-structural 5A protein (NS5A) resistance-associated substitutions (RASs) have been identified in patients infected with hepatitis C virus (HCV), even prior to exposure to direct-acting antiviral agents (DAAs). Selection for these variants occurs rapidly during treatment and, in some cases, leads to antiviral treatment failure. DAAs are currently the standard of care for hepatitis C treatment in many parts of the world. Nevertheless, in Brazil, the prevalence of pre-existing NS5A RASs is largely unknown. In this study, we evaluated the frequency of naturally occurring NS5A RASs in Brazilian patients infected with HCV as either a monoinfection or coinfection with human immunodeficiency virus (HIV). Direct Sanger sequencing of the NS5A region was performed in 257 DAA-naïve patients chronically infected with HCV (156 monoinfected with HCV and 101 coinfected with HIV/HCV). The frequencies of specific RASs in monoinfected patients were 14.6% for HCV GT-1a (M28 V and Q30H/R), 6.0% for GT-1b (L31F/V and Y93H), and 22.6% for GT-3a (A30K and Y93H). For HIV/HCV-coinfected patients, the frequencies of RAS were 3.9% for GT-1a (M28 T and Q30H/R), and 11.1% for GT-1b (Y93H); no RASs were found in GT-3a sequences. Substitutions that may confer resistance to NS5A inhibitors exist at baseline in Brazilian DAA-naïve patients infected with HCV GT-1a, -1b, and -3a. Standardization of RAS definitions is needed to improve resistance analyses and to facilitate comparisons of substitutions reported across studies worldwide. Therapeutic strategies should be optimized to efficiently prevent DAA treatment failure due to selection for RASs, especially in difficult-to-cure patients.

GT Biplot Analysis for Silage Potential, Nutritive Value, Gas and Methane Production of Stay-Green Grain Sorghum Shoots

OpenAIRE

Kaplan, Mahmut; Arslan, Mustafa; Kale, Hasan; Kara, Kanber; Kokten, Kagan

2017-01-01

Abstract This study was conducted to investigate the possible silage of stay-green sorghum genotypes using GT biplot analysis. Following the grain harvest, 41 sorghum genotypes were chopped to make silage. Biochemical analyses were performed after 60 d of silage. The results revealed that green herbage yields varied between 13.40-65.96 t ha−1, pH between 3.92-4.25, dry matter ratios between 24.26-35.83%, crude protein ratios between 3.44-7.03%, acid detergent fiber (ADF) ratios between 27.46-...

Neutronic evaluation of a fuel block of a GT-MHR using WIMSD5

International Nuclear Information System (INIS)

Silva, Clarysson Alberto Mello da; Pereira, Claubia; Costa, Antonella Lombardi; Veloso, Maria Auxiliadora Fortini

2009-01-01

The goal is to simulate a representative fuel block of a GT-MHR core to analyze the neutronic parameters behavior due the insertion of Pu isotopes and Minor Actinides (MAs) using shuffling scheme. Initially the fuel block was filled with Driver Fuel (DF), and after burned, these fuels are reprocessed and build the Transmutation Fuel (TF). After some cycles, the fuel block was filled with DF and TF fuels. The DF is a mixture of Pu and Np and the TF is a mix of Pu and MAs. The shuffled scheme was evaluated after each cycle. It was verified that neutronic parameters and isotopic composition reach equilibrium and remain within safety limits when this scheme is used. In addition, there were burnup of MAs. The WIMS code was used in the simulations and the following neutronic parameters were evaluated: infinitive multiplication factor, spectrum hardening and reactivity temperature coefficients. (author)

Actual characteristics study on HTR-10GT coupling with direct gas turbine cycle

International Nuclear Information System (INIS)

Peng Xuechuang; Zhu Shutang; Wang Jie

2005-01-01

Compared with a plant of steam turbine cycle, a HTGR plant with direct gas turbine cycle has a higher thermal efficiency. A lot of investigations on the characteristics of HTR-10GT, which is the reactor studying project of Tsinghua University, have been carried out, however, all of them are based on the theoretical Brayton Cycle which neglects many actual conditions, such as leakage, pressure loss and so on. For engineering practices, leakage is an unavoidable problem. The difference of the location and capacity of leakage will directly influence the working medium's thermoparameters and lead to fall of the cycle efficiency. The present study is focused on the performance of an actual Brayton cycle with practical conditions of leakage. The present study which based on building the physical and mathematical model of the leakage, aims to study the actual characteristics of the direct gas turbine circle. (authors)

C-terminal motif prediction in eukaryotic proteomes using comparative genomics and statistical over-representation across protein families

Directory of Open Access Journals (Sweden)

Cutler Sean R

2007-06-01

Full Text Available Abstract Background The carboxy termini of proteins are a frequent site of activity for a variety of biologically important functions, ranging from post-translational modification to protein targeting. Several short peptide motifs involved in protein sorting roles and dependent upon their proximity to the C-terminus for proper function have already been characterized. As a limited number of such motifs have been identified, the potential exists for genome-wide statistical analysis and comparative genomics to reveal novel peptide signatures functioning in a C-terminal dependent manner. We have applied a novel methodology to the prediction of C-terminal-anchored peptide motifs involving a simple z-statistic and several techniques for improving the signal-to-noise ratio. Results We examined the statistical over-representation of position-specific C-terminal tripeptides in 7 eukaryotic proteomes. Sequence randomization models and simple-sequence masking were applied to the successful reduction of background noise. Similarly, as C-terminal homology among members of large protein families may artificially inflate tripeptide counts in an irrelevant and obfuscating manner, gene-family clustering was performed prior to the analysis in order to assess tripeptide over-representation across protein families as opposed to across all proteins. Finally, comparative genomics was used to identify tripeptides significantly occurring in multiple species. This approach has been able to predict, to our knowledge, all C-terminally anchored targeting motifs present in the literature. These include the PTS1 peroxisomal targeting signal (SKL*, the ER-retention signal (K/HDEL*, the ER-retrieval signal for membrane bound proteins (KKxx*, the prenylation signal (CC* and the CaaX box prenylation motif. In addition to a high statistical over-representation of these known motifs, a collection of significant tripeptides with a high propensity for biological function exists

Retreatment of patients with treatment failure of direct-acting antivirals: Focus on hepatitis C virus genotype 1b.

Science.gov (United States)

Kanda, Tatsuo; Nirei, Kazushige; Matsumoto, Naoki; Higuchi, Teruhisa; Nakamura, Hitomi; Yamagami, Hiroaki; Matsuoka, Shunichi; Moriyama, Mitsuhiko

2017-12-14

The recent development of direct-acting antiviral agents (DAAs) against hepatitis C virus (HCV) infection could lead to higher sustained virological response (SVR) rates, with shorter treatment durations and fewer adverse events compared with regimens that include interferon. However, a relatively small proportion of patients cannot achieve SVR in the first treatment, including DAAs with or without peginterferon and/or ribavirin. Although retreatment with a combination of DAAs should be conducted for these patients, it is more difficult to achieve SVR when retreating these patients because of resistance-associated substitutions (RASs) or treatment-emergent substitutions. In Japan, HCV genotype 1b (GT1b) is founded in 70% of HCV-infected individuals. In this minireview, we summarize the retreatment regimens and their SVR rates for HCV GT1b. It is important to avoid drugs that target the regions targeted by initial drugs, but next-generation combinations of DAAs, such as sofosbuvir/velpatasvir/voxilaprevir for 12 wk or glecaprevir/pibrentasvir for 12 wk, are proposed to be potential solution for the HCV GT1b-infected patients with treatment failure, mainly on a basis of targeting distinctive regions. Clinicians should follow the new information and resources for DAAs and select the proper combination of DAAs for the retreatment of HCV GT1b-infected patients with treatment failure.

Afetividade, ensino e aprendizagem: um estudo no GT20 da ANPEd

Directory of Open Access Journals (Sweden)

Elvira Cristina Martins Tassoni

Full Text Available Este artigo traz um levantamento bibliográfico dos trabalhos apresentados no GT20 - Psicologia da Educação da ANPEd (Associação Nacional de Pós-Graduação e Pesquisa em Educação no período de 2000 a 2010. O objetivo foi rastrear as produções científicas mais recentes que discutem a afetividade e sua relação com os processos de ensino e aprendizagem. Apresenta as perspectivas teóricas em que os estudos sobre a afetividade foram abordados e em que medida tais estudos discutem as influências entre os aspectos afetivos e os processos de ensino e aprendizagem. Os trabalhos foram selecionados segundo os procedimentos metodológicos da análise de conteúdo fundamentada em Bardin (1977. Os resultados permitiram a construção de um panorama a respeito dos estudos sobre afetividade, apontando tendências, períodos em que as discussões sobre o tema foram mais intensas e, sobretudo, demonstrando que tal temática vem marcando presença constante nas discussões das Reuniões Anuais da ANPEd.

RAD51C germline mutations in breast and ovarian cancer cases from high-risk families.

Directory of Open Access Journals (Sweden)

Jessica Clague

Full Text Available BRCA1 and BRCA2 are the most well-known breast cancer susceptibility genes. Additional genes involved in DNA repair have been identified as predisposing to breast cancer. One such gene, RAD51C, is essential for homologous recombination repair. Several likely pathogenic RAD51C mutations have been identified in BRCA1- and BRCA2-negative breast and ovarian cancer families. We performed complete sequencing of RAD51C in germline DNA of 286 female breast and/or ovarian cancer cases with a family history of breast and ovarian cancers, who had previously tested negative for mutations in BRCA1 and BRCA2. We screened 133 breast cancer cases, 119 ovarian cancer cases, and 34 with both breast and ovarian cancers. Fifteen DNA sequence variants were identified; including four intronic, one 5' UTR, one promoter, three synonymous, and six non-synonymous variants. None were truncating. The in-silico SIFT and Polyphen programs were used to predict possible pathogenicity of the six non-synonomous variants based on sequence conservation. G153D and T287A were predicted to be likely pathogenic. Two additional variants, A126T and R214C alter amino acids in important domains of the protein such that they could be pathogenic. Two-hybrid screening and immunoblot analyses were performed to assess the functionality of these four non-synonomous variants in yeast. The RAD51C-G153D protein displayed no detectable interaction with either XRCC3 or RAD51B, and RAD51C-R214C displayed significantly decreased interaction with both XRCC3 and RAD51B (p<0.001. Immunoblots of RAD51C-Gal4 activation domain fusion peptides showed protein levels of RAD51C-G153D and RAD51C-R214C that were 50% and 60% of the wild-type, respectively. Based on these data, the RAD51C-G153D variant is likely to be pathogenic, while the RAD51C- R214C variant is hypomorphic of uncertain pathogenicity. These results provide further support that RAD51C is a rare breast and ovarian cancer susceptibility gene.

A Family of Zinc Finger Proteins Is Required forChromosome-specific Pairing and Synapsis during Meiosis in C.elegans

Energy Technology Data Exchange (ETDEWEB)

Phillips, Carolyn M.; Dernburg, Abby F.

2006-06-07

Homologous chromosome pairing and synapsis are prerequisitefor accurate chromosome segregation during meiosis. Here, we show that afamily of four related C2H2 zinc-finger proteins plays a central role inthese events in C. elegans. These proteins are encoded within a tandemgene cluster. In addition to the X-specific HIM-8 protein, threeadditional paralogs collectively mediate the behavior of the fiveautosomes. Each chromosome relies on a specific member of the family topair and synapse with its homolog. These "ZIM" proteins concentrate atspecial regions called meiotic pairing centers on the correspondingchromosomes. These sites are dispersed along the nuclear envelope duringearly meiotic prophase, suggesting a role analogous to thetelomere-mediated meiotic bouquet in other organisms. To gain insightinto the evolution of these components, wecharacterized homologs in C.briggsae and C. remanei, which revealed changes in copy number of thisgene family within the nematode lineage.

Long-range PCR facilitates the identification of PMS2-specific mutations.

Science.gov (United States)

Clendenning, Mark; Hampel, Heather; LaJeunesse, Jennifer; Lindblom, Annika; Lockman, Jan; Nilbert, Mef; Senter, Leigha; Sotamaa, Kaisa; de la Chapelle, Albert

2006-05-01

Mutations within the DNA mismatch repair gene, "postmeiotic segregation increased 2" (PMS2), have been associated with a predisposition to hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome). The presence of a large family of highly homologous PMS2 pseudogenes has made previous attempts to sequence PMS2 very difficult. Here, we describe a novel method that utilizes long-range PCR as a way to preferentially amplify PMS2 and not the pseudogenes. A second, exon-specific, amplification from diluted long-range products enables us to obtain a clean sequence that shows no evidence of pseudogene contamination. This method has been used to screen a cohort of patients whose tumors were negative for the PMS2 protein by immunohistochemistry and had not shown any mutations within the MLH1 gene. Sequencing of the PMS2 gene from 30 colorectal and 11 endometrial cancer patients identified 10 novel sequence changes as well as 17 sequence changes that had previously been identified. In total, putative pathologic mutations were detected in 11 of the 41 families. Among these were five novel mutations, c.705+1G>T, c.736_741del6ins11, c.862_863del, c.1688G>T, and c.2007-1G>A. We conclude that PMS2 mutation detection in selected Lynch syndrome and Lynch syndrome-like patients is both feasible and desirable. Published 2006 Wiley-Liss, Inc.

Biological Functions of ilvC in Branched-Chain Fatty Acid Synthesis and Diffusible Signal Factor Family Production in Xanthomonas campestris

Directory of Open Access Journals (Sweden)

Kai-Huai Li

2017-12-01

Full Text Available In bacteria, the metabolism of branched-chain amino acids (BCAAs is tightly associated with branched-chain fatty acids (BCFAs synthetic pathways. Although previous studies have reported on BCFAs biosynthesis, more detailed associations between BCAAs metabolism and BCFAs biosynthesis remain to be addressed. In this study, we deleted the ilvC gene, which encodes ketol-acid reductoisomerase in the BCAAs synthetic pathway, from the Xanthomonas campestris pv. campestris (Xcc genome. We characterized gene functions in BCFAs biosynthesis and production of the diffusible signal factor (DSF family signals. Disruption of ilvC caused Xcc to become auxotrophic for valine and isoleucine, and lose the ability to synthesize BCFAs via carbohydrate metabolism. Furthermore, ilvC mutant reduced the ability to produce DSF-family signals, especially branched-chain DSF-family signals, which might be the main reason for Xcc reduction of pathogenesis toward host plants. In this report, we confirmed that BCFAs do not have major functions in acclimatizing Xcc cells to low temperatures.

Novel gene PUS3 c.A212G mutation in Ukrainian family with intellectual disability

Directory of Open Access Journals (Sweden)

Gulkovskyi R. V.

2015-04-01

Full Text Available Aim. To evaluate a possible role of a novel c.A212G substitution in the PUS3 gene at intellectual disability (ID. Methods. The observed group consisted of the ID Ukrainian family members (parents and two affected children and the control group – of 300 healthy individuals from general population of Ukraine. Sanger sequencing of the PUS3 gene exon 1 was performed for the family members. Polymorphic variants of c.A212G were analyzed using ARMS PCR. The homology models of wild type and p.Y71C mutant catalytic domains of human Pus3 were generated using the crystal structure of the human Pus1 catalytic domain (PDB ID: 4NZ6 as a template. Results. It was shown that the father of the affected siblings was the c.A212G substitution heterozygous carrier whereas the mother was a wild type allele homozygote, and the exom sequencing result was confirmed – the affected children are 212G homozygotes. We supposed de novo mutation in the maternal germ line. A low frequency of 212G allele (0.0017 was shown in the population of Ukraine. Homology modelling of the wild type and p.Y71C mutant catalytic domain of human Pus3 revealed that substitution p.Y71C is located in close proximity to its active site. Conclusions. The absence of hypoproteinemia in our patients, homozygous for the 212C allele allows us to assume that the mutation c.A212G PUS3 is rather neutral and cannot be the major cause of ID. However, considering a low frequency of the 212G allele in the population and close localization of p.Y71C substitution to the active site of hPus3 we cannot exclude that the c.A212G mutation in PUS3 may be a modifier for some pathologies including syndromic ID.

Benchmark calculation for GT-MHR using HELIOS/MASTER code package and MCNP

International Nuclear Information System (INIS)

Lee, Kyung Hoon; Kim, Kang Seog; Noh, Jae Man; Song, Jae Seung; Zee, Sung Quun

2005-01-01

The latest research associated with the very high temperature gas-cooled reactor (VHTR) is focused on the verification of a system performance and safety under operating conditions for the VHTRs. As a part of those, an international gas-cooled reactor program initiated by IAEA is going on. The key objectives of this program are the validation of analytical computer codes and the evaluation of benchmark models for the projected and actual VHTRs. New reactor physics analysis procedure for the prismatic VHTR is under development by adopting the conventional two-step procedure. In this procedure, a few group constants are generated through the transport lattice calculations using the HELIOS code, and the core physics analysis is performed by the 3-dimensional nodal diffusion code MASTER. We evaluated the performance of the HELIOS/MASTER code package through the benchmark calculations related to the GT-MHR (Gas Turbine-Modular Helium Reactor) to dispose weapon plutonium. In parallel, MCNP is employed as a reference code to verify the results of the HELIOS/MASTER procedure

The Caenorhabditis chemoreceptor gene families

Directory of Open Access Journals (Sweden)

Robertson Hugh M

2008-10-01

Full Text Available Abstract Background Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Results Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Conclusion Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

The Caenorhabditis chemoreceptor gene families.

Science.gov (United States)

Thomas, James H; Robertson, Hugh M

2008-10-06

Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

76 FR 53851 - Federal Housing Administration (FHA): Suspension of Section 238(c) Single-Family Mortgage...

Science.gov (United States)

2011-08-30

... actuarially sound, and to prescribe terms and conditions relating to the insurance found to be necessary and... conform to other FHA programs because HUD determined that ``the actuarial experience under Section 238(c... there is a demand for this program and that military families would be better served by this program...

Free Moisture in GT-73 Resin Waste Generated from the Effluent Treatment Facility

International Nuclear Information System (INIS)

Kaplan, D.I.

2002-01-01

Solid Waste Division is presently evaluating whether to transfer spent resin generated from the Effluent Treatment Facility (ETF) to the Nevada Test Site (NTS). One of the criteria for the waste to be accepted at the NTS is that the waste must not contain more than 1 vol-percent free liquid. This criterion reduces the amount of liquid, a primary vector for subsurface contaminant migration (along with colloids), introduced into the repository. This criterion also serves to reduce the chance of an accidental spill during transport of the waste to the NTS. On December 15, 1997, a shipment from Fernald to the NTS leaked some liquid waste onto a highway in Kingman, Arizona, resulting in a Type B Accident Investigation. The direct cause of the leak was attributed to broken welds related to the use of substandard containers. The overall objective of this study was to provide guidance as to whether the spent GT-73 resin would meet the free moisture WAC set by the NTS

Experience Gained from Construction of Low-Emission Combustion Chambers for On-Land Large-Capacity Gas-Turbine Units: GT24/26

Science.gov (United States)

Bulysova, L. A.; Vasil'ev, V. D.; Berne, A. L.; Gutnik, M. M.

2018-06-01

This article is the third in a planned series of articles devoted to the experience gained around the world in constructing low-emission combustion chambers for on-land large-capacity (above 250 MW) gas-turbine units (GTUs). The aim of this study is to generalize and analyze the ways in which different designers apply the fuel flow and combustion arrangement principles and the fuel feed control methods. The considered here GT24 and GT26 (GT24/26) gas-turbine units generating electric power at the 60 and 50 Hz frequencies, respectively, are fitted with burners of identical designs. Designed by ABB, these GTUs were previously manufactured by Alstom, and now they are produced by Ansaldo Energia. The efficiency of these GTUs reaches 41% at the 354 MW power output during operation in the simple cycle and 60.5% at the 505MW power output during operation in the combined cycle. Both GTUs comply with all requirements for harmful emissions. The compression ratio is equal to 35. In this article, a system is considered for two-stage fuel combustion in two sequentially arranged low-emission combustion chambers, one of which is placed upstream of the high-pressure turbine (CC1) and the other upstream of the low-pressure turbine (CC2). The article places the main focus on the CC2, which operates with a decreased content of oxygen in the oxidizer supplied to the burner inlets. The original designs of vortex generators and nozzles placed in the flow of hot combustion products going out from the high-pressure turbine are described in detail. The article also presents an original CC2 front plate cooling system, due to which a significantly smaller amount of air fed for cooling has been reached. The article also presents the pressure damping devices incorporated in the chamber, the use of which made it possible to obtain a significantly wider range of CC loads at which its low-emission operation is ensured. The fuel feed adjustment principles and the combustion control methods

Binding proteins for the regulatory subunit (RII-B) of brain cAMP-dependent protein kinase II: isolation and initial characterization of cDNA clones

International Nuclear Information System (INIS)

Bregman, D.B.; Hu, E.; Rubin, C.S.

1987-01-01

In mammalian brain several proteins bind RII-B with high affinity. An example is P75, which co-purifies with RII-B and also complexes Ca 2+ -calmodulin. Thus, RII-B binding proteins (RBPs) might play a role in integrating the Ca 2+ and cAMP signalling pathways in the CNS. In order to study the structure and function of these polypeptides they have isolated cloned cDNAs for RBPs by screening brain λgt11 expression libraries using a functional assay: the binding of 32 P-labeled RII to fusion proteins produced by recombinants expressing RII binding domains. Inserts from rat brain recombinant clones λ7B and λ10B both hybridize to a brain mRNA of 7000 nucleotides. Northern gel analyses indicate that the putative RBP mRNA is also expressed in lung, but not in several other tissues. The λ7B insert was subcloned into the expression plasmid pINIA. A 50 kDa high affinity RII-B binding polypeptide accumulated in E. coli transformed with pINIA-7B. Two RBP cDNAs (λ77, λ100A) have been retrieved from a bovine λgt 11 library using a monoclonal antibody directed against P75 and the binding assay respectively. On Southern blots the insert from λ100A hybridizes to the cDNA insert from clones λ77, suggesting that λ 77 cDNA might contain sequences coding for both an RII binding domain and a P75 epitope. The bovine λ100A insert also hybridizes with the rat λ7B clone indicating that an RII binding domain is conserved in the two species

Specific oncogenic activity of the Src-family tyrosine kinase c-Yes in colon carcinoma cells.

Directory of Open Access Journals (Sweden)

Florence Sancier

Full Text Available c-Yes, a member of the Src tyrosine kinase family, is found highly activated in colon carcinoma but its importance relative to c-Src has remained unclear. Here we show that, in HT29 colon carcinoma cells, silencing of c-Yes, but not of c-Src, selectively leads to an increase of cell clustering associated with a localisation of β-catenin at cell membranes and a reduction of expression of β-catenin target genes. c-Yes silencing induced an increase in apoptosis, inhibition of growth in soft-agar and in mouse xenografts, inhibition of cell migration and loss of the capacity to generate liver metastases in mice. Re-introduction of c-Yes, but not c -Src, restores transforming properties of c-Yes depleted cells. Moreover, we found that c-Yes kinase activity is required for its role in β-catenin localisation and growth in soft agar, whereas kinase activity is dispensable for its role in cell migration. We conclude that c-Yes regulates specific oncogenic signalling pathways important for colon cancer progression that is not shared with c-Src.

Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers

Science.gov (United States)

Park, Daniel J.; Tao, Kayoko; Le Calvez-Kelm, Florence; Nguyen-Dumont, Tu; Robinot, Nivonirina; Hammet, Fleur; Odefrey, Fabrice; Tsimiklis, Helen; Teo, Zhi L.; Thingholm, Louise B.; Young, Erin L.; Voegele, Catherine; Lonie, Andrew; Pope, Bernard J.; Roane, Terrell C.; Bell, Russell; Hu, Hao; Shankaracharya; Huff, Chad D.; Ellis, Jonathan; Li, Jun; Makunin, Igor V.; John, Esther M.; Andrulis, Irene L.; Terry, Mary B.; Daly, Mary; Buys, Saundra S.; Snyder, Carrie; Lynch, Henry T.; Devilee, Peter; Giles, Graham G.; Hopper, John L.; Feng, Bing J.; Lesueur, Fabienne; Tavtigian, Sean V.; Southey, Melissa C.; Goldgar, David E.

2014-01-01

Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930.4) not present in public sequencing databases: RINT1 c.343C>T (p.Q115X), c.1132_1134del (p.M378del) and c.1207G>T (p.D403Y). Based on this finding, a population-based case-control mutation-screening study was conducted and identified 29 carriers of rare (MAF Lynch syndrome-spectrum cancers (SIR 3.35, 95% CI 1.7-6.0; P=0.005), particularly for relatives diagnosed with cancer under age 60 years (SIR 10.9, 95%CI 4.7-21; P=0.0003). PMID:25050558

Metagenomic-based study of the phylogenetic and functional gene diversity in Galápagos land and marine iguanas.

Science.gov (United States)

Hong, Pei-Ying; Mao, Yuejian; Ortiz-Kofoed, Shannon; Shah, Rushabh; Cann, Isaac; Mackie, Roderick I

2015-02-01

In this study, a metagenome-based analysis of the fecal samples from the macrophytic algae-consuming marine iguana (MI; Amblyrhynchus cristatus) and terrestrial biomass-consuming land iguanas (LI; Conolophus spp.) was conducted. Phylogenetic affiliations of the fecal microbiome were more similar between both iguanas than to other mammalian herbivorous hosts. However, functional gene diversities in both MI and LI iguana hosts differed in relation to the diet, where the MI fecal microbiota had a functional diversity that clustered apart from the other terrestrial-biomass consuming reptilian and mammalian hosts. A further examination of the carbohydrate-degrading genes revealed that several of the prevalent glycosyl hydrolases (GH), glycosyl transferases (GT), carbohydrate binding modules (CBM), and carbohydrate esterases (CE) gene classes were conserved among all examined herbivorous hosts, reiterating the important roles these genes play in the breakdown and metabolism of herbivorous diets. Genes encoding some classes of carbohydrate-degrading families, including GH2, GH13, GT2, GT4, CBM50, CBM48, CE4, and CE11, as well as genes associated with sulfur metabolism and dehalogenation, were highly enriched or unique to the MI. In contrast, gene sequences that relate to archaeal methanogenesis were detected only in LI fecal microbiome, and genes coding for GH13, GH66, GT2, GT4, CBM50, CBM13, CE4, and CE8 carbohydrate active enzymes were highly abundant in the LI. Bacterial populations were enriched on various carbohydrates substrates (e.g., glucose, arabinose, xylose). The majority of the enriched bacterial populations belong to genera Clostridium spp. and Enterococcus spp. that likely accounted for the high prevalence of GH13 and GH2, as well as the GT families (e.g., GT2, GT4, GT28, GT35, and GT51) that were ubiquitously present in the fecal microbiota of all herbivorous hosts.

Metagenomic-Based Study of the Phylogenetic and Functional Gene Diversity in Galápagos Land and Marine Iguanas

KAUST Repository

Hong, Pei-Ying

2014-12-19

In this study, a metagenome-based analysis of the fecal samples from the macrophytic algae-consuming marine iguana (MI; Amblyrhynchus cristatus) and terrestrial biomass-consuming land iguanas (LI; Conolophus spp.) was conducted. Phylogenetic affiliations of the fecal microbiome were more similar between both iguanas than to other mammalian herbivorous hosts. However, functional gene diversities in both MI and LI iguana hosts differed in relation to the diet, where the MI fecal microbiota had a functional diversity that clustered apart from the other terrestrial-biomass consuming reptilian and mammalian hosts. A further examination of the carbohydrate-degrading genes revealed that several of the prevalent glycosyl hydrolases (GH), glycosyl transferases (GT), carbohydrate binding modules (CBM), and carbohydrate esterases (CE) gene classes were conserved among all examined herbivorous hosts, reiterating the important roles these genes play in the breakdown and metabolism of herbivorous diets. Genes encoding some classes of carbohydrate-degrading families, including GH2, GH13, GT2, GT4, CBM50, CBM48, CE4, and CE11, as well as genes associated with sulfur metabolism and dehalogenation, were highly enriched or unique to the MI. In contrast, gene sequences that relate to archaeal methanogenesis were detected only in LI fecal microbiome, and genes coding for GH13, GH66, GT2, GT4, CBM50, CBM13, CE4, and CE8 carbohydrate active enzymes were highly abundant in the LI. Bacterial populations were enriched on various carbohydrates substrates (e.g., glucose, arabinose, xylose). The majority of the enriched bacterial populations belong to genera Clostridium spp. and Enterococcus spp. that likely accounted for the high prevalence of GH13 and GH2, as well as the GT families (e.g., GT2, GT4, GT28, GT35, and GT51) that were ubiquitously present in the fecal microbiota of all herbivorous hosts.

Aberrant ERK 1/2 complex activation and localization in scrapie-infected GT1-1 cells

Directory of Open Access Journals (Sweden)

Didonna Alessandro

2010-08-01

Full Text Available Abstract Background Fatal neurodegenerative disorders such as Creutzfeldt-Jakob and Gerstmann-Sträussler-Scheinker diseases in humans, scrapie and bovine spongiform encephalopathy in animals, are characterized by the accumulation in the brain of a pathological form of the prion protein (PrP denominated PrPSc. The latter derives from the host cellular form, PrPC, through a process whereby portions of its α-helical and coil structures are refolded into β-sheet structures. Results In this work, the widely known in vitro model of prion replication, hypothalamic GT1-1 cell line, was used to investigate cellular and molecular responses to prion infection. The MAP kinase cascade was dissected to assess the phosphorylation levels of src, MEK 1/2 and ERK 1/2 signaling molecules, both before and after prion infection. Our findings suggest that prion replication leads to a hyper-activation of this pathway. Biochemical analysis was complemented with immunofluorescence studies to map the localization of the ERK complex within the different cellular compartments. We showed how the ERK complex relocates in the cytosol upon prion infection. We correlated these findings with an impairment of cell growth in prion-infected GT1-1 cells as probed by MTT assay. Furthermore, given the persistent urgency in finding compounds able to cure prion infected cells, we tested the effects on the ERK cascade of two molecules known to block prion replication in vitro, quinacrine and Fab D18. We were able to show that while these two compounds possess similar effects in curing prion infection, they affect the MAP kinase cascade differently. Conclusions Taken together, our results help shed light on the molecular events involved in neurodegeneration and neuronal loss in prion infection and replication. In particular, the combination of chronic activation and aberrant localization of the ERK complex may lead to a lack of essential neuroprotective and survival factors

Super families

International Nuclear Information System (INIS)

Amato, N.; Maldonado, R.H.C.

1989-01-01

The study on phenomena in the super high energy region, Σ E j > 1000 TeV revealed events that present a big dark spot in central region with high concentration of energy and particles, called halo. Six super families with halo were analysed by Brazil-Japan Cooperation of Cosmic Rays. For each family the lateral distribution of energy density was constructed and R c Σ E (R c ) was estimated. For studying primary composition, the energy correlation with particles released separately in hadrons and gamma rays was analysed. (M.C.K.)

Performance evaluations of advanced massively parallel platforms based on gyrokinetic toroidal five-dimensional Eulerian code GT5D

International Nuclear Information System (INIS)

Idomura, Yasuhiro; Jolliet, Sebastien

2010-01-01

A gyrokinetic toroidal five dimensional Eulerian code GT5D is ported on six advanced massively parallel platforms and comprehensive benchmark tests are performed. A parallelisation technique based on physical properties of the gyrokinetic equation is presented. By extending the parallelisation technique with a hybrid parallel model, the scalability of the code is improved on platforms with multi-core processors. In the benchmark tests, a good salability is confirmed up to several thousands cores on every platforms, and the maximum sustained performance of ∼18.6 Tflops is achieved using 16384 cores of BX900. (author)

DETERMINAÇÃO DOS VALORES MÉDIOS DAS ENZIMAS AST, DHL, gGT E FAS NO SORO DE EQUINOS SADIOS EM SANTA MARIA, RS

Directory of Open Access Journals (Sweden)

Sônia Terezinha dos Anjos Lopes

1993-12-01

Full Text Available Foram usados 50 eqüinos sadios provenientes do Batalhão de Polícia Montada da Brigada Militar em Santa Maria, RS, sendo 43 machos e 7 fêmeas com idade variadas a partir de 3 anos. Foram colhidos 10ml de sangue da jugular para determinação dos valores da atividade sérica das enzimas aspartato-aminotransferase (AST, desidrogenase lática (DHL, gama-glutamiltransferase (gGT e fosfatase alcalina sérica (FAS. Os resultados encontrados para AST foi de 101 - 190U/I com média de 130UI; DHL foi de 100 - 421 U/l com média de 182U/I; gGT foi de 2 - 27U/I com média de 6.5U/I e FAS foi de 103 - 335U/I com média de 190U/I. A partir de outubro/1992 estes valores passaram a ser referência no laboratório de Patologia Clínica do Hospital de Clinicas Veterinárias da Universidade Federal de Santa Maria.

Arabidopsis thaliana glucuronosyltransferase in family GT14

DEFF Research Database (Denmark)

Dilokpimol, Adiphol; Geshi, Naomi

2014-01-01

Arabinogalactan proteins are abundant cell-surface proteoglycans in plants and are involved in many cellular processes including somatic embryogenesis, cell-cell interactions, and cell elongation. We reported a glucuronosyltransferase encoded by Arabidopsis AtGlcAT14A, which catalyzes an addition...

A Reference Section through the Lower Fast-spreading Oceanic Crust in the Wadi Gideah (Sumail ophiolite, Sultanate Oman): Drill Sites GT1A and GT2A within the ICDP Oman Drilling Project

Science.gov (United States)

Mueller, S.; Koepke, J.; Garbe-Schoenberg, C. D.; Müller, T.; Mock, D.; Strauss, H.; Schuth, S.; Ildefonse, B.

2017-12-01

In the absence of a complete profile through fast-spreading oceanic crust in modern oceans, we established a reference profile through the whole paleocrust of the Sumail Ophiolite (Oman), which is regarded as the best analogue for fast-spreading oceanic crust on land. For establishing a coherent data set, we sampled the Wadi Gideah in the Wadi-Tayin massif from the mantle section up to the pillow basalts and performed different analytical and structural investigations on the same suite of samples (pool sample concept). The whole sample set contains about 400 samples focusing on both primary magmatic rocks and hydrothermal fault zones to characterize initial formation processes and cooling of the crust. The Wadi Gideah hosts the sites GT1A (lower crust) and GT2A (foliated / layered gabbro transition) where 400 m long cores have been drilled in the frame of the ICDP Oman Drilling Project (OmanDP). Thus, the Wadi Gideah crustal transect is well-suited for providing a reference frame for these two drill cores. Major and trace element data on minerals and rocks reveal in-situ crystallization in the deep crust, thus strongly supporting a hybrid accretion model that is characterized by sheeted sill intrusion in the lower part of the plutonic crust and gabbro glacier features in the upper section. This hybrid model is also supported by results on crystallographic preferred orientations (CPO) of the minerals within the gabbros, which call for distinct formation mechanisms in the upper and lower gabbro sections. A requirement for our hybrid model is significant hydrothermal cooling in the lower crust for the consumption of the latent heat of crystallization. This was facilitated by channelled hydrothermal flow zones, preserved today in faulted zones of extensively altered gabbro cutting both layered and foliated gabbros. These gabbros show higher Sr87/Sr86 ratios if compared to the background gabbro, the presence of late stage minerals (amphibole, oxides, orthopyroxene

Family identity: black-white interracial family health experience.

Science.gov (United States)

Byrd, Marcia Marie; Garwick, Ann Williams

2006-02-01

The purpose of this interpretive descriptive study was to describe how eight Black-White couples with school-aged children constructed their interracial family identity through developmental transitions and interpreted race to their children. Within and across-case data analytic strategies were used to identify commonalities and variations in how Black men and White women in couple relationships formed their family identities over time. Coming together was the core theme described by the Black-White couples as they negotiated the process of forming a family identity. Four major tasks in the construction of interracial family identity emerged: (a) understanding and resolving family of origin chaos and turmoil, (b) transcending Black-White racial history, (c) articulating the interracial family's racial standpoint, and (d) explaining race to biracial children across the developmental stages. The findings guide family nurses in promoting family identity formation as a component of family health within the nurse-family partnership with Black-White mixed-race families.

Kiired ja ilusad / Robert Koistinen ja Aimo Niemi

Index Scriptorium Estoniae

Koistinen, Robert

2015-01-01

Sportautode võrdlus: Abarth 695 Biposto, Alfa Romeo 4C Spider, Audi RS 3 Sportback, Audi TTS Coupé S tronic, Bentley Continental GT Speed, BMW M235i xDrive, BMW X6 M, BMW i8, Cadillac ATS Coupé 2,0T, Chevrolet Corvette Coupé Z06, Ford Focus ST 2,0 Ecoboost, Ford Mustang 5,0 V8 GT Fastback, Mercedes-AMG C 63 S, Mercedes-AMG GT S, Mini Hatchback JCW A, Nissan 370Z Nismo, Nissan GT-R, Opel Adam S, Porsche Cayman GT4, Porsche 911 Carrera 4 GTS, Porsche 911 GT3 RS, Range Rover Sport 5,0 V8 S/C SVR, Renault Megane R.S. 275 Trophy-R, Seat Leon ST Cupra 280 DSG

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

OpenAIRE

Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Bar?y, Tuva; Holmgren, Asbj?rn; Stray-Pedersen, Asbj?rg; Bryceson, Yenan T.; Str?mme, Petter; Frengen, Eirik; Misceo, Doriana

2016-01-01

Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers w...

Metabolic Thresholds and Validated Accelerometer Cutoff Points for the Actigraph GT1M in Young Children Based on Measurements of Locomotion and Play Activities

Science.gov (United States)

Jimmy, Gerda; Dossegger, Alain; Seiler, Roland; Mader, Urs

2012-01-01

The purpose of the current study was to determine metabolic thresholds and subsequent activity intensity cutoff points for the ActiGraph GT1M with various epochs spanning from 5 to 60 sec in young children. Twenty-two children, aged 4 to 9 years, performed 10 different activities including locomotion and play activities. Energy expenditure was…

Nurturing Gifted and Talented Students to Become Future Leaders: The Innovative Curriculum for the Gifted and/or Talented at GT College in Hong Kong

Science.gov (United States)

Tam, Raymond Kwok-Wai

2017-01-01

In the previous literature on gifted education in Hong Kong, there has been little mention of special schools for gifted and/or talented students in Hong Kong except for GT College, Hong Kong's first college for the gifted. Some notable researchers in gifted education in Hong Kong have described the college briefly with regard to its admission…

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

Directory of Open Access Journals (Sweden)

Zamba-Papanicolaou Eleni

2008-04-01

Full Text Available Abstract Background Senataxin (chromosome 9q34 was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA, termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2 and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor apraxia" and increased alpha-fetoprotein (AFP. Here, we report a novel Senataxin mutation in a Cypriot ARCA family. Methods We studied several Cypriot autosomal recessive cerebellar ataxia (ARCA families for linkage to known ARCA gene loci. We linked one family (909 to the SETX locus on chromosome 9q34 and screened the proband for mutations by direct sequencing. Results Sequence analysis revealed a novel c.5308_5311delGAGA mutation in exon 11 of the SETX gene. The mutation has not been detected in 204 control chromosomes from the Cypriot population, the remaining Cypriot ARCA families and 37 Cypriot sporadic cerebellar ataxia patients. Conclusion We identified a novel SETX homozygous c.5308_5311delGAGA mutation that co-segregates with ARCA with cerebellar atrophy and raised AFP.

Cloning of cDNAs encoding new peptides of the dermaseptin-family.

Science.gov (United States)

Wechselberger, C

1998-10-14

Dermaseptins are a group of basic (lysine-rich) peptides, 27-34 amino acids in length and involved in the defense of frog skin against microbial invasion. By using a degenerated oligonucleotide primer binding to the 5'-untranslated region of previously characterized cDNAs of these peptides, it was possible to identify new members of the dermaseptin family in the South American frogs Agalychnis annae and Pachymedusa dacnicolor. Amino acid alignment and secondary structure prediction reveals, that only five of the deduced peptides can be supposed to be also functional homologs to the known dermaseptins from Phyllomedusa bicolor and Phyllomedusa sauvagei. The remaining six peptides described in this paper have not been isolated and characterized yet.

Isolation of a solventogenic Clostridium sp. strain: fermentation of glycerol to n-butanol, analysis of the bcs operon region and its potential regulatory elements.

Science.gov (United States)

Panitz, J C; Zverlov, V V; Pham, V T T; Stürzl, S; Schieder, D; Schwarz, W H

2014-02-01

A new solventogenic bacterium, strain GT6, was isolated from standing water sediment. 16S-rRNA gene analysis revealed that GT6 belongs to the heterogeneous Clostridium tetanomorphum group of bacteria exhibiting 99% sequence identity with C. tetanomorphum 4474(T). GT6 can utilize a wide range of carbohydrate substrates including glucose, fructose, maltose, xylose and glycerol to produce mainly n-butanol without any acetone. Additional products of GT6 metabolism were ethanol, butyric acid, acetic acid, and trace amounts of 1,3-propanediol. Medium and substrate composition, and culture conditions such as pH and temperature influenced product formation. The major fermentation product from glycerol was n-butanol with a final concentration of up to 11.5 g/L. 3% (v/v) glycerol lead to a total solvent concentration of 14 g/L within 72 h. Growth was not inhibited by glycerol concentrations as high as 15% (v/v). The solventogenesis genes crt, bcd, etfA/B and hbd composing the bcs (butyryl-CoA synthesis) operon of C. tetanomorphum GT6 were sequenced. They occur in a genomic arrangement identical to those in other solventogenic clostridia. Furthermore, the sequence of a potential regulator gene highly similar to that of the NADH-sensing Rex family of regulatory genes was found upstream of the bcs operon. Potential binding sites for Rex have been identified in the promoter region of the bcs operon of solvent producing clostridia as well as upstream of other genes involved in NADH oxidation. This indicates a fundamental role of Rex in the regulation of fermentation products in anaerobic, and especially in solventogenic bacteria. Copyright © 2013 Elsevier GmbH. All rights reserved.

Mandolin Family Instruments

Science.gov (United States)

Cohen, David J.; Rossing, Thomas D.

The mandolin family of instruments consists of plucked chordophones, each having eight strings in four double courses. With the exception of the mandobass, the courses are tuned in intervals of fifths, as are the strings in violin family instruments. The soprano member of the family is the mandolin, tuned G3-D4-A4-E5. The alto member of the family is the mandola, tuned C3-G3-D4-A4. The mandola is usually referred to simply as the mandola in the USA, but is called the tenor mandola in Europe. The tenor member of the family is the octave mandolin, tuned G2-D3-A3-E4. It is referred to as the octave mandolin in the USA, and as the octave mandola in Europe. The baritone member of the family is the mandocello, or mandoloncello, tuned C2-G2-D3-A3. A variant of the mandocello not common in the USA is the five-course liuto moderno, or simply liuto, designed for solo repertoire. Its courses are tuned C2-G2-D3-A3-E4. A mandobass was also made by more than one manufacturer during the early twentieth century, though none are manufactured today. They were fretted instruments with single string courses tuned E1-A1-D2-G2. There are currently a few luthiers making piccolo mandolins, tuned C4-G4-D5-A5.

Chronic exposure to KATP channel openers results in attenuated glucose sensing in hypothalamic GT1-7 neurons.

Science.gov (United States)

Haythorne, Elizabeth; Hamilton, D Lee; Findlay, John A; Beall, Craig; McCrimmon, Rory J; Ashford, Michael L J

2016-12-01

Individuals with Type 1 diabetes (T1D) are often exposed to recurrent episodes of hypoglycaemia. This reduces hormonal and behavioural responses that normally counteract low glucose in order to maintain glucose homeostasis, with altered responsiveness of glucose sensing hypothalamic neurons implicated. Although the molecular mechanisms are unknown, pharmacological studies implicate hypothalamic ATP-sensitive potassium channel (K ATP ) activity, with K ATP openers (KCOs) amplifying, through cell hyperpolarization, the response to hypoglycaemia. Although initial findings, using acute hypothalamic KCO delivery, in rats were promising, chronic exposure to the KCO NN414 worsened the responses to subsequent hypoglycaemic challenge. To investigate this further we used GT1-7 cells to explore how NN414 affected glucose-sensing behaviour, the metabolic response of cells to hypoglycaemia and K ATP activity. GT1-7 cells exposed to 3 or 24 h NN414 exhibited an attenuated hyperpolarization to subsequent hypoglycaemic challenge or NN414, which correlated with diminished K ATP activity. The reduced sensitivity to hypoglycaemia was apparent 24 h after NN414 removal, even though intrinsic K ATP activity recovered. The NN414-modified glucose responsiveness was not associated with adaptations in glucose uptake, metabolism or oxidation. K ATP inactivation by NN414 was prevented by the concurrent presence of tolbutamide, which maintains K ATP closure. Single channel recordings indicate that NN414 alters K ATP intrinsic gating inducing a stable closed or inactivated state. These data indicate that exposure of hypothalamic glucose sensing cells to chronic NN414 drives a sustained conformational change to K ATP , probably by binding to SUR1, that results in loss of channel sensitivity to intrinsic metabolic factors such as MgADP and small molecule agonists. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Cost-utility analysis of ledipasvir/sofosbuvir for the treatment of genotype 1 chronic hepatitis C in Japan.

Science.gov (United States)

Igarashi, Ataru; Tang, Wentao; Guerra, Ines; Marié, Lucile; Cure, Sandrine; Lopresti, Michael

2017-01-01

Hepatitis C is the result of a ribonucleic acid (RNA) virus (hepatitis C virus; HCV). The Japan Society of Hepatology (JSH) estimated that 1.5-2 million people in Japan carry HCV. Six major HCV genotypes (GT) and a large number of subtypes have been described in the literature. In Japan, around 70% to 80% of people are infected with HCV genotype 1b. The progress of the disease primarily affects the liver and may lead to liver cirrhosis, hepatocellular carcinoma (HCC) and death. Sofosbuvir (SOF) is a nucleotide analogue NS5B inhibitor and ledipasvir (LDV) is an inhibitor of the HCV NS5A protein. They are combined in a single tablet regimen for the treatment of GT1 patients and resulted in sustained virological response (SVR) above 94% in large phase III trials. This analysis assesses the cost-utility of LDV/SOF in GT1 patients in Japan. A cohort of 10,000 patients was followed through a Markov model until they reached 100 years of age. GT1 treatment-naïve and experienced, non-cirrhotic and cirrhotic patients were studied separately. LDV/SOF was compared to several treatment regimens containing pegylated interferon (PEGIFN), telaprevir (TVR), simeprevir (SMV), daclatasvir (DCV), asunaprevir (ASV) and ribavirin (RBV). Discount rates of 2% were applied to costs and outcomes according to the Japanese guidelines. LDV/SOF was cost-effective against most comparators with incremental cost-effectiveness ratios (ICERs) below JPY 5,000,000. By applying a societal perspective, LDV/SOF was the dominant treatment strategy in all cases. Moreover, LDV/SOF reduced the number of cases of advanced liver disease. These results were robust to sensitivity analyses. LDV/SOF was cost-effective compared to most of the currently recommended treatments. Furthermore, LDV/SOF extends treatments to HCV-infected patients who are ineligible for interferon and RBV-based regimens. LDV/SOF thus has the potential to help reduce the burden of HCV in Japan.

A perfect fit: connecting family therapy skills to family business needs.

Science.gov (United States)

Cole, Patricia M; Johnson, Kit

2012-06-01

The purpose of this article is to encourage family therapists to become more interested in family business practice. It does so in three ways: (a) highlighting the number of therapists already involved in family business issues; (b) showing the parallels between family business and family therapy by applying family business research findings to couples therapy; (c) discussing how family therapists already have the practice wisdom to be effective in working with family business clients. Limitations of this practice are also discussed along with suggestions for overcoming them. © 2012 American Association for Marriage and Family Therapy.

Full load synthesis/design optimization of a hybrid SOFC-GT power plant

International Nuclear Information System (INIS)

Calise, F.; Dentice d' Accadia, M.; Vanoli, L.; Spakovsky, Michael R. von

2007-01-01

In this paper, the optimization of a hybrid solid oxide fuel cell-gas turbine (SOFC-GT) power plant is presented. The plant layout is based on an internal reforming SOFC stack; it also consists of a radial gas turbine, centrifugal compressors and plate-fin heat exchangers. In the first part of the paper, the bulk-flow model used to simulate the plant is presented. In the second part, a thermoeconomic model is developed by introducing capital cost functions. The whole plant is first simulated for a fixed configuration of the most important synthesis/design (S/D) parameters in order to establish a reference design configuration. Next a S/D optimization of the plant is carried out using a traditional single-level approach, based on a genetic algorithm. The optimization determined a set of S/D decision variable values with a capital cost significantly lower than that of the reference design, even though the net electrical efficiency for the optimal configuration was very close to that of the initial one. Furthermore, the optimization procedure dramatically reduced the SOFC active area and the compact heat exchanger areas

Incorporation of [U-14C] acetate into the lipids of scale insect, icerya purchasi maskell (Hemiptera: Margarodidae)

International Nuclear Information System (INIS)

Hashimoto, Akira; Kitaoka, Shozaburo.

1979-01-01

Incorporation of ( U- 14 C ) acetate into the lipids of scale insect Icerya purchasi was investigated. The insects were placed on a Parafilm membrane over a liquid food containing the labelled compound and allowed to suck up the liquid through the stylet piercing the membrane in the dark. The marker was incorporated into individual lipid classes, and after 1 hour of feeding the relative radioactivities of the classes were as follows: phospholipids gt (s)-3-acetyl-1,2-diacylglycerols (ADG) gt free fatty acids asymptotically equals diacylglycerols gt normal triacylglycerols (n-TG) gt monoacylglycerols. The ADG was fractionated into acetyl, diacyl and glyceryl moieties to determine the distribution of radioactivity within ADG. The acetyl moiety from the 3-position of sn-glycerol contained a higher percentage of radioactivity than any of other moieties. However, by feeding for 3 to 12 hours, the radioactivity was higher in the diacyl and glyceryl moieties, with marked decrease in the acetyl moiety. These results suggest that ADG is carrier of the acetyl group and a link in the formation of n-TG. Analysis of fatty acids in the lipids showed that the marker was also incorporated into the di-unsaturated acid fraction, which consisted almost entirely of linoleic acid suggesting the de novo synthesis of this fatty acid by the insect. In the experiment using ovipositing insects, the marker was found to be incorporated into the lipids in both the eggs and egg sacs, and also into the mother bodies indicating that the insects continue feeding even during the period of oviposition. (author)

Distribution of protein kinase Mzeta and the complete protein kinase C isoform family in rat brain

DEFF Research Database (Denmark)

Naik, M U; Benedikz, Eirikur; Hernandez, I

2000-01-01

Protein kinase C (PKC) is a multigene family of at least ten isoforms, nine of which are expressed in brain (alpha, betaI, betaII, gamma, delta, straightepsilon, eta, zeta, iota/lambda). Our previous studies have shown that many of these PKCs participate in synaptic plasticity in the CA1 region...

26 CFR 31.3306(c)(5)-1 - Family employment.

Science.gov (United States)

2010-04-01

... this section, the exception is conditioned solely upon the family relationship between the employee and... partnership are not within the exception unless the requisite family relationship exists between the employee... relationship between the employee and the individual employing him. The exceptions are as follows: (1) Services...

B-G cDNA clones have multiple small repeats and hybridize to both chicken MHC regions

DEFF Research Database (Denmark)

Kaufman, J; Salomonsen, J; Skjødt, K

1989-01-01

We used rabbit antisera to the chicken MHC erythrocyte molecule B-G and to the class I alpha chain (B-F) to screen lambda gt11 cDNA expression libraries made with RNA selected by oligo-dT from bone marrow cells of anemic B19 homozygous chickens. Eight clones were found to encode B-G molecules which...

Glasshouse seedling δ13C and canopy δ13C of 8-year-old hoop pine families grown in south-east Queensland in relation to canopy δ18O, nitrogen concentration and tree growth

International Nuclear Information System (INIS)

Prasolova, N.V.; Saffigna, P.G.; Farquhar, G.D.

1999-01-01

Full text: Carbon isotope composition (δ l3 C) in C 3 plants has been theoretically and empirically linked to plant water-use efficiency (WUE). The plant δ 13 C has been suggested as an early selection criterion in plant breeding. The δ 13 C and nitrogen concentration (N mass ) of branchlet tissue for inner and outer upper canopy positions were assessed for 8-year-old hoop pine (Araucaria cunninghamii Ait.ex D.Don) trees from 23 half-sib families grown in 5 blocks of a progeny test in south-east Queensland, and for glasshouse seedlings. Tree height was positively related to N mass in branchlets of the 2 canopy positions, indicating that tree growth was limited by nitrogen deficiency. Our data indicated that water supply was also a growth-limiting factor in the hoop pine plantation of the study-area. There were considerable variations in δ 13 C and N mass between families and blocks in the field (with a heritability estimate of 0.73 for branchlet δ 13 C from the inner canopy position). Significant variation in δ 13 C was observed between positions and families of the glasshouse seedlings (with a heritability estimate of 0.66). There was also a significant difference in N mass between the 2 sampling positions in the field. The δ 13 C was positively related to N mass for the branchlets of the upper outer crown (r=0.62, p 13 C (r: 0.28-0.41, p l3 C of the 2 canopy positions for all the 115 trees sampled. There was no significant correlation between δ 13 C values for 2 seedling canopy positions at age 18 months, possibly due to restricted rooting conditions in small pots, leading to greater stomatal closure in upper canopy, which was also reflected in more positive δ 13 C. Significant correlation existed between seedling δ 13 C of upper canopy position at age 8 months and low canopy position at age 18 months. This, together with field data, demonstrated the sensitivity and reliability of δ 13 C as an indicator of plant growth environment. Strong correlation

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family.

Science.gov (United States)

Zhang, Xin-Yu; Jiang, Wei-Ying; Chen, Lu-Ming; Chen, Su-Qin

2013-01-01

To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND). Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP) gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF) prediction were also undertaken. Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both patients. The mutation and the mutation bearing haplotype co-segregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers (II:2). The male without ND did not harbor the mutation. The mutation occurred at the highly conserved nucleotides. ORF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11 N-terminal amino acids. A novel mutation, c.-1_2delAAT in the NDP gene, was identified in a Chinese family with ND. This mutation caused ND without obvious sensorineural hearing loss. Mental disorder was found in one but not the other patients. The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.

The Strength of Family Ties: Perceptions of Network Relationship Quality and Levels of C-Reactive Proteins in the North Texas Heart Study.

Science.gov (United States)

Uchino, Bert N; Ruiz, John M; Smith, Timothy W; Smyth, Joshua M; Taylor, Daniel J; Allison, Matthew; Ahn, Chul

2015-10-01

Although the quality of one's social relationships has been linked to important physical health outcomes, less work has been conducted examining family and friends that differ in their underlying positivity and negativity. The main aim of this study was to examine the association between supportive, aversive, and ambivalent family/friends with levels of C-reactive proteins. Three hundred participants from the North Texas Heart Study completed the social relationships index and a blood draw to assess high-sensitivity C-reactive proteins (hs-CRPs). After standard controls, the number of supportive family members predicted lower hs-CRP levels, whereas the number of ambivalent family members predicted higher hs-CRP levels. These links were independent of depressive symptoms and perceived stress. These data highlight the importance of considering specific types of relationships and their underlying positive and negative aspects in research on social ties and physical health.

MsDpo4—a DinB Homolog from Mycobacterium smegmatis—Is an Error-Prone DNA Polymerase That Can Promote G:T and T:G Mismatches

Directory of Open Access Journals (Sweden)

Amit Sharma

2012-01-01

Full Text Available Error-prone DNA synthesis in prokaryotes imparts plasticity to the genome to allow for evolution in unfavorable environmental conditions, and this phenomenon is termed adaptive mutagenesis. At a molecular level, adaptive mutagenesis is mediated by upregulating the expression of specialized error-prone DNA polymerases that generally belong to the Y-family, such as the polypeptide product of the dinB gene in case of E. coli. However, unlike E. coli, it has been seen that expression of the homologs of dinB in Mycobacterium tuberculosis are not upregulated under conditions of stress. These studies suggest that DinB homologs in Mycobacteria might not be able to promote mismatches and participate in adaptive mutagenesis. We show that a representative homolog from Mycobacterium smegmatis (MsDpo4 can carry out template-dependent nucleotide incorporation and therefore is a DNA polymerase. In addition, it is seen that MsDpo4 is also capable of misincorporation with a significant ability to promote G:T and T:G mismatches. The frequency of misincorporation for these two mismatches is similar to that exhibited by archaeal and prokaryotic homologs. Overall, our data show that MsDpo4 has the capacity to facilitate transition mutations and can potentially impart plasticity to the genome.

An In Vitro System Comprising Immortalized Hypothalamic Neuronal Cells (GT1?7 Cells) for Evaluation of the Neuroendocrine Effects of Essential Oils

OpenAIRE

Mizuno, Dai; Konoha-Mizuno, Keiko; Mori, Miwako; Yamazaki, Kentaro; Haneda, Toshihiro; Koyama, Hironari; Kawahara, Masahiro

2015-01-01

Aromatherapy and plant-based essential oils are widely used as complementary and alternative therapies for symptoms including anxiety. Furthermore, it was reportedly effective for the care of several diseases such as Alzheimer’s disease and depressive illness. To investigate the pharmacological effects of essential oils, we developed an in vitro assay system using immortalized hypothalamic neuronal cells (GT1–7 cells). In this study, we evaluated the effects of essential oils on neuronal deat...

Typological and dimensional approach at comparing the Giessen Test (GT) with the NEO-Five-Factor-Inventory (NEO-FFI)

Science.gov (United States)

Roth, Marcus; Körner, Annett; Herzberg, Philipp Yorck

2008-01-01

Objectives: This article reports comparisons of the Giessen Test (GT) with the NEO-Five-Factor-Inventory (NEO-FFI) based on a dimensional as well as on a typological approach. Method: Data were collected from 1673 subjects (aged between 18 and 96 years) constituting a representative sample of the German population. Results: The results indicate only moderate agreement (ranging from .25 to .61) between the subscales of the two personality inventories. The correspondence seems to be somewhat higher, when the typological approach was used instead of the dimensional approach. Conclusions: The typological approach is less dependent on the underlying questionnaires and provides a useful extension of the dimensional approach. PMID:19742276

Evaluation of Cathode Air Flow Transients in a SOFC/GT Hybrid System Using Hardware in the Loop Simulation.

Science.gov (United States)

Zhou, Nana; Yang, Chen; Tucker, David

2015-02-01

Thermal management in the fuel cell component of a direct fired solid oxide fuel cell gas turbine (SOFC/GT) hybrid power system can be improved by effective management and control of the cathode airflow. The disturbances of the cathode airflow were accomplished by diverting air around the fuel cell system through the manipulation of a hot-air bypass valve in open loop experiments, using a hardware-based simulation facility designed and built by the U.S. Department of Energy, National Energy Technology Laboratory (NETL). The dynamic responses of the fuel cell component and hardware component of the hybrid system were studied in this paper.

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.

Science.gov (United States)

Liang, Wen-Chen; Chou, Po-Ching; Hung, Chia-Cheng; Su, Yi-Ning; Kan, Tsu-Min; Chen, Wan-Zi; Hayashi, Yukiko K; Nishino, Ichizo; Jong, Yuh-Jyh

2016-03-15

Limb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA. SGCA encodes alpha-sarcoglycan (SG) that forms a heterotetramer with other SGs in the sarcolemma, and comprises part of the dystrophin-glycoprotein complex. The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia. We identified five patients with a novel homozygous mutation of c.101G>T (p.Arg34Leu) in SGCA from a big aboriginal family ethnically consisting of two tribes in Taiwan. Patient 3 is the maternal uncle of patients 1 and 2. All their parents, heterozygous for c.101G>T, denied consanguineous marriages although they were from the same tribe. The heterozygous parents of patients 4 and 5 were from two different tribes, originally residing in different geographic regions in Taiwan. Haplotype analysis showed that all five patients shared the same mutation-associated haplotype, indicating the probability of a founder effect and consanguinity. The results suggest that the carrier rate of c.101G>T in SGCA may be high in Taiwan, especially in the aboriginal population regardless of the tribes. It is important to investigate the prevalence of LGMD2D in Taiwan for early diagnosis and treatment. Copyright © 2016. Published by Elsevier B.V.

PCR-identification of a Nicotiana plumbaginifolia cDNA homologous to the high-affinity nitrate transporters of the crnA family.

Science.gov (United States)

Quesada, A; Krapp, A; Trueman, L J; Daniel-Vedele, F; Fernández, E; Forde, B G; Caboche, M

1997-05-01

A family of high-affinity nitrate transporters has been identified in Aspergillus nidulans and Chlamydomonas reinhardtii, and recently homologues of this family have been cloned from a higher plant (barley). Based on six of the peptide sequences most strongly conserved between the barley and C. reinhardtii polypeptides, a set of degenerate primers was designed to permit amplification of the corresponding genes from other plant species. The utility of these primers was demonstrated by RT-PCR with cDNA made from poly(A)+ RNA from barley, C. reinhardtii and Nicotiana plumbaginifolia. A PCR fragment amplified from N. plumbaginifolia was used as probe to isolate a full-length cDNA clone which encodes a protein, NRT2;1Np, that is closely related to the previously isolated crnA homologue from barley. Genomic Southern blots indicated that there are only 1 or 2 members of the Nrt2 gene family in N. plumbaginifolia. Northern blotting showed that the Nrt2 transcripts are most strongly expressed in roots. The effects of external treatments with different N sources showed that the regulation of the Nrt2 gene(s) is very similar to that reported for nitrate reductase and nitrite reductase genes: their expression was strongly induced by nitrate but was repressed when reduced forms of N were supplied to the roots.

Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16

International Nuclear Information System (INIS)

Pallant, A.; Eskenazi, A.; Frelinger, J.G.; Mattei, M.G.; Fournier, R.E.K.; Carlsson, S.R.; Fukuda, M.

1989-01-01

The authors describe the isolation and characterization of cDNA clones encoding human leukosialin, a major sialoglycoprotein of human leukocytes. Leukosialin is very closely related or identical to the sialophorin molecule, which is involved in T-cell proliferation and whose expression is altered in Wiskott-Aldrich syndrome (WAS), an X-chromosome-linked immunodeficiency disease. Using a rabbit antiserum to leukosialin, a cDNA clone was isolated from a λgt11 cDNA library constructed from human peripheral blood cells. The λgt11 clone was used to isolate longer cDNA clones that correspond to the entire coding sequence of leukosialin. DNA sequence analysis reveals three domains in the predicted mature protein. The extracellular domain is enriched for Ser, Thr, and Pro and contains four contiguous 18-amino acid repeats. The transmembrane and intracellular domains of the human leukosialin molecule are highly homologous to the rat W3/13 molecule. RNA gel blot analysis reveals two polyadenylylated species of 2.3 and 8 kilobases. Southern blot analysis suggests that human leukosialin is a single-copy gene. Analysis of monochromosomal cell hybrids indicates that the leukosialin gene is not X chromosome linked and in situ hybridization shows leukosialin is located on chromosome 16. These findings demonstrate that the primary mutation in WAS is not a defect in the structural gene for leukosialin

Influence of family history, irradiation and anti-cancer drug (mitomycin C) on the occurrence of multiple primary neoplasms in breast carcinoma patients

International Nuclear Information System (INIS)

Yoshimoto, Masataka; Sakamoto, Goi; Sugano, Haruo; Kasumi, Fujio; Fukami, Atsuo; Kuno, Keijiro.

1984-01-01

The influence of family history, irradiation and anti-cancer drug (Mitomycin C) on the occurrence of multiple primary neoplasms was analysed using the person-year method in 1359 Japanese breast carcinoma patients. There were 111 multiple primary neoplasms, including bilaterl breast cancer, in 109 patients; the incidence rate was 0.0072 per person-year. The incidence rate in patients with a family history of cancer was 1.29 times higher than in those without. In the bilateral breast cancer group there was about a 3 times higher frequency of family history of breast cancer. Irradiation therapy raised the occurrence of multiple primary neoplasms 1.28 fold, and Mitomycin C (40 mg) had no effect on the occurrence of neoplasms during a 10-year observation period. (author)

Parametric Engineering System Definition Model. Volume II. Appendix C. FORTRAN Listings

Science.gov (United States)

1979-08-01

x ý_ .V L , x 0w X: U Aw a U= U2 LL (A9 > cAL .D- 3: w.. = L I- ;< c Q 4 -- uj- 2: UZLL - ccZ4 .W - U. C ~ U- FLJ LLt- CLL>JuU. j Z Xf jZ x V- *O L...ý - P- u Z.." - S.. = 2- U :- - - - LUý zz w z c IN.U 4( 4 U.-JC uI. 0 > u .C Cj ’t a. u c , L0> V)QV)e in G.t O~ .0 P- ct tD ~ *-cMc" -t m C c...7 0 7; n, C-1600 z c t= orw > w I Z z z. z Z tn - w 1 t CU Z ": < - z -a>- C- LL Z = z - , - a I-. LU * C-161 0X w -U. c td , Ln U-lU_ U. LL.- Wj~ W z

Myxovirus resistance 1 gene polymorphisms and outcomes of viral hepatitis B and C infections in Moroccan patients.

Science.gov (United States)

Rebbani, Khadija; Ababou, Mostafa; Nadifi, Sellama; Kandil, Mostafa; Marchio, Agnès; Pineau, Pascal; Ezzikouri, Sayeh; Benjelloun, Soumaya

2017-04-01

Host genetic factors may influence the establishment of chronicity or spontaneous clearance in viral hepatitis B and C infections. More light was shed on the role played by interferon-stimulated genes in the innate immunity. Myxovirus resistance 1 (MX1) is one of those key genes that have reported to inhibit several viruses. The present study aims to explore the possible association of -88G/T and -123C/A promoter variants of MX1 with susceptibility to chronic hepatitis B and C and/or with spontaneous clearance in a Moroccan population. The -88G/T and -123C/A SNPs were genotyped by PCR-RFLP in 538 individuals stratified into HBV chronically infected patients (n = 120), HCV-chronically infected patients (n = 115), HBV spontaneously resolved subjects (n = 114), HCV spontaneously resolved group (n = 52), and healthy controls (n = 137). A significant association of -123C allele with HBV spontaneous clearance has been found (P = 0.002, OR = 2.34; 95%CI [1.36-4]). In addition, a significant correlation between the MX1-GC haplotype and HBV spontaneous clearance (P C/A polymorphisms with regard to HCV infection was observed in this study. Here, we show that for North African patients with chronic hepatitis, MX1 gene variation at position -123 may influence the outcome of HBV infection but not HCV infection. J. Med. Virol. 89:647-652, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families

International Nuclear Information System (INIS)

Sun Yanhong; Wei Qiping; Zhou Xiangtian; Qian Yaping; Zhou Jian; Lu Fan; Qu Jia; Guan Minxin

2006-01-01

We report here the clinical, genetic, and molecular characterization of three Chinese families with maternally transmitted Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either simultaneously (45%) or sequentially (55%). The penetrances of vision loss in these pedigrees were 27%, 50%, and 60%, respectively. The age-at-onset of vision loss in these families was 14, 19, and 24 years, respectively. Furthermore, the ratios between affected male and female matrilineal relatives were 1:1, 1:1.2, and 1:2, respectively. Mutational analysis of mitochondrial DNA revealed the presence of homoplasmic ND6 T14484C mutation, which has been associated with LHON. The incomplete penetrance and phenotypic variability implicate the involvement of nuclear modifier gene(s), environmental factor(s) or mitochondrial haplotype(s) in the phenotypic expression of the LHON-associated T14484C mutation in these Chinese pedigrees

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.

Science.gov (United States)

Andarva, Monavvar; Jamshidi, Javad; Ghaedi, Hamid; Daftarian, Narsis; Emamalizadeh, Babak; Alehabib, Elham; Taghavi, Shaghyegh; Pouriran, Ramin; Darvish, Hossein

2018-03-01

Norrie disease (ND) is a rare, X-linked recessive disorder with the main characteristic of early childhood blindness. The aim of the present study was to identify the genetic cause of the disease and the phenotypic characteristics of the patients in an Iranian family with four affected males with ND. Norrie disease pseudoglioma (NDP) gene was sequenced and clinical examination was performed on patients. A GG dinucleotide insertion in exon 3 (c.240_241insGG) of NDP was detected in all patients. The mutation caused a frameshift and an early stop codon (p.Phe81Glyfs*23). A novel mutation was found in the NDP gene in the affected males of the family. As the mutation was absent in the normal male members of the family, it should be the genetic cause of the disease. © 2017 Optometry Australia.

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

Directory of Open Access Journals (Sweden)

Srivastava Satish

2003-07-01

Full Text Available Abstract Background PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC gene. Dipeptidyl-peptidase I encoded by the CTSC gene removes dipeptides from the amino-terminus of protein substrates and mainly plays an immune and inflammatory role. Several mutations have been reported in this gene in patients from several ethnic groups. We report here mutation analysis of the CTSC gene in three Indian families with PLS. Methods Peripheral blood samples were obtained from individuals belonging to three Indian families with PLS for genomic DNA isolation. Exon-specific intronic primers were used to amplify DNA samples from individuals. PCR products were subsequently sequenced to detect mutations. PCR-SCCP and ASOH analyses were used to determine if mutations were present in normal control individuals. Results All patients from three families had a classic PLS phenotype, which included palmoplantar keratosis and early-onset severe periodontitis. Sequence analysis of the CTSC gene showed three novel nonsense mutations (viz., p.Q49X, p.Q69X and p.Y304X in homozygous state in affected individuals from these Indian families. Conclusions This study reported three novel nonsense mutations in three Indian families. These novel nonsense mutations are predicted to produce truncated dipeptidyl-peptidase I causing PLS phenotype in these families. A review of the literature along with three novel mutations reported here showed that the total number of mutations in the CTSC gene described to date is 41 with 17 mutations being located in exon 7.

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Science.gov (United States)

Canafoglia, Laura; Robbiano, Angela; Pareyson, Davide; Panzica, Ferruccio; Nanetti, Lorenzo; Giovagnoli, Anna Rita; Venerando, Anna; Gellera, Cinzia; Franceschetti, Silvana; Zara, Federico

2014-06-03

To identify the genetic cause of a familial form of late-onset action myoclonus in 2 unrelated patients. Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative. Exome sequencing was performed in the probands using an Illumina platform. Segregation analysis of putative mutations was performed in all family members by standard Sanger sequencing protocols. NEU1 mutations were detected in 3 siblings of each family with prominent cortical myoclonus presenting in the third decade of life and having a mild and slowly progressive course. They did not have macular cherry-red spot and their urinary sialic acid excretion was within normal values. Genetic analysis demonstrated a homozygous mutation in family 1 (c.200G>T, p.S67I) and 2 compound heterozygous mutations in family 2 (c.679G>A, p.G227R; c.913C>T, p.R305C). Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings. © 2014 American Academy of Neurology.

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.

Science.gov (United States)

Karadima, Georgia; Koutsis, Georgios; Raftopoulou, Maria; Floroskufi, Paraskewi; Karletidi, Karolina-Maria; Panas, Marios

2014-06-15

Charcot-Marie-Tooth (CMT) disease, the most common hereditary neuropathy, is clinically and genetically heterogeneous. X-linked CMT (CMTX) is usually caused by mutations in the gap junction protein b 1 gene (GJB1) coding for connexin 32 (Cx32). The clinical manifestations of CMTX are characterized by significant variability, with some patients exhibiting central nervous system (CNS) involvement. We report four novel mutations in GJB1, c.191G>A (p.Cys64Tyr), c.508G>T (p.Val170Phe), c.778A>G (p.Lys260Glu) and c.300C>G (p.His100Gln) identified in four unrelated Greek families. These mutations were characterized by variable phenotypic expression, including a family with the Roussy-Lévy syndrome, and three of them were associated with mild clinical CNS manifestations. Copyright © 2014. Published by Elsevier B.V.

A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family

Directory of Open Access Journals (Sweden)

Xin-Yu Zhang

2013-12-01

Full Text Available AIM:To investigate the genetic findings and phenotypic characteristics of a Chinese family with Norrie disease (ND.METHODS:Molecular genetic analysis and clinical examinations were performed on a Chinese family with ND. Mutations in the Norrie disease pseudoglioma (NDP gene were detected by direct sequencing. Haplotypes were constructed and compared with the phenotypes in the family. Evolutionary comparisons and mutant open reading frame (ORF prediction were also undertaken.RESULTS:Two family members with ocular manifestations were diagnosed with ND. No signs of sensorineural hearing loss were observed in either patient, while one of them showed signs of mild mental retardation. A novel heterozygous mutation in the NDP gene, c.-1_2delAAT, was detected in both patients. The mutation and the mutation bearing haplotype co-segregated with the ND phenotype in males and was transmitted from their mothers and/or grandmothers (II:2. The male without ND did not harbor the mutation. The mutation occurred at the highly conserved nucleotides. ORF finder predicted that the mutation would lead to the production of a truncated protein that lacks the first 11 N-terminal amino acids.CONCLUSION:A novel mutation, c.-1_2delAAT in the NDP gene, was identified in a Chinese family with ND. This mutation caused ND without obvious sensorineural hearing loss. Mental disorder was found in one but not the other patients. The clinical heterogeneity in the family indicated that other genetic variants and epigenetic factors may also play a role in the disease presentation.

A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?

Directory of Open Access Journals (Sweden)

Nina van Beek

Full Text Available The autosomal dominant Hailey Hailey disease (HHD is caused by mutations in the ATP2C1 gene encoding for human secretory pathway Ca2+/Mn2+ ATPase protein (hSPCA1 in the Golgi apparatus. Clinically, HHD presents with erosions and hyperkeratosis predominantly in the intertrigines. Here we report an exome next generation sequencing (NGS based analysis of ATPase genes in a Greek family with 3 HHD patients presenting with clinically atypical lesions mainly localized on the neck and shoulders. By NGS of one HHD-patient and in silico SNP calling and SNP filtering we identified a SNP in the expected ATP2C1 gene and SNPs in further ATPase genes. Verification in all 3 affected family members revealed a heterozygous frameshift deletion at position 2355_2358 in exon 24 of ATP2C1 in all three patients. 7 additional SNPs in 4 ATPase genes (ATP9B, ATP11A, ATP2B3 and ATP13A5 were identified. The SNPs rs138177421 in the ATP9B gene and rs2280268 in the ATP13A5 gene were detected in all 3 affected, but not in 2 non affected family members. The SNPs in the ATP2B3 and ATP11A gene as well as further SNPs in the ATP13A5 gene could not be confirmed in all affected family members. One may speculate that besides the level of functional hSPCA1 protein, levels of other ATPase proteins may influence expressivity of the disease and might also contribute, as in this case, to atypical presentations.

Structure of Human cGAS Reveals a Conserved Family of Second-Messenger Enzymes in Innate Immunity

Directory of Open Access Journals (Sweden)

Philip J. Kranzusch

2013-05-01

Full Text Available Innate immune recognition of foreign nucleic acids induces protective interferon responses. Detection of cytosolic DNA triggers downstream immune signaling through activation of cyclic GMP-AMP synthase (cGAS. We report here the crystal structure of human cGAS, revealing an unanticipated zinc-ribbon DNA-binding domain appended to a core enzymatic nucleotidyltransferase scaffold. The catalytic core of cGAS is structurally homologous to the RNA-sensing enzyme, 2′-5′ oligo-adenylate synthase (OAS, and divergent C-terminal domains account for specific ligand-activation requirements of each enzyme. We show that the cGAS zinc ribbon is essential for STING-dependent induction of the interferon response and that conserved amino acids displayed within the intervening loops are required for efficient cytosolic DNA recognition. These results demonstrate that cGAS and OAS define a family of innate immunity sensors and that structural divergence from a core nucleotidyltransferase enables second-messenger responses to distinct foreign nucleic acids.

Caracterização mecânica e térmica da borracha natural formulada e vulcanizada dos clones: GT 1, IAN 873, PB 235 e RRIM 600 Mechanical and thermal characterization of compounds of natural rubber of the clones: GT 1, IAN 873, PB 235 and RRIM 600

Directory of Open Access Journals (Sweden)

Ana C. Dall'Antonia

2009-01-01

Full Text Available Neste trabalho estudou-se o desempenho mecânico e térmico de compostos de borracha natural (Hevea brasiliensis de 4 diferentes clones (GT 1, IAN 873, PB 235 e RRIM 600 cultivados no Estado de São Paulo, assim como de uma mistura destes clones e de uma borracha comercial, GEB-1. Estas borrachas foram formuladas e vulcanizadas com tempos de 5, 7 e 9 minutos. A caracterização foi realizada por calorimetria exploratória diferencial, termogravimetria, ensaios de resistência à tração, análise dinâmico-mecânica, medidas de dureza Shore A, microscopia eletrônica de varredura e espectroscopia na região do infravermelho. Os resultados permitiram concluir que o tempo de vulcanização e o tipo de clone não influenciaram na temperatura de transição vítrea (Tg dos compostos. Os valores de Tg obtidos por DMA foram de cerca de -62 °C, e os resultados ensaios de dureza apresentaram valores próximos de 60 para todos os compostos estudados. Os ensaios de resistência à tração mostraram que o melhor desempenho mecânico foi obtido pelo clone RRIM 600. De acordo com os resultados obtidos neste trabalho, todos os clones atingiram as propriedades reportadas na literatura, podendo ser utilizados, em princípio, nas indústrias de artefatos de borracha separadamente ou na forma de mistura.The objective of this work was to study the mechanical and thermal performance of natural rubber (Hevea brasiliensis compounds of different types of clones (GT 1, IAN 873, PB 235 and RRIM 600, as well as a mixture made from these clones and a commercial rubber GEB-1. These rubbers were formulated and prepared in a two-roll mill and vulcanized at different times (5, 7 and 9 minutes. The evaluation of the mechanical and thermal performance of different natural rubber compounds was carried out by differential scanning calorimetry (DSC, thermogravimetry analysis (TGA, mechanical properties (tensile and hardness tests, dynamic mechanic thermal analysis (DMTA

Crystal Structure of a UDP-glucose-specific Glycosyltransferase from a Mycobacterium Species

Energy Technology Data Exchange (ETDEWEB)

Fulton, Zara; McAlister, Adrian; Wilce, Matthew C.J.; Brammananth, Rajini; Zaker-Tabrizi, Leyla; Perugini, Matthew A.; Bottomley, Stephen P.; Coppel, Ross L.; Crellin, Paul K.; Rossjohn, Jamie; Beddoe, Travis (Monash); (Melbourne)

2008-10-24

Glycosyltransferases (GTs) are a large and ubiquitous family of enzymes that specifically transfer sugar moieties to a range of substrates. Mycobacterium tuberculosis contains a large number of GTs, many of which are implicated in cell wall synthesis, yet the majority of these GTs remain poorly characterized. Here, we report the high resolution crystal structures of an essential GT (MAP2569c) from Mycobacterium avium subsp. paratuberculosis (a close homologue of Rv1208 from M. tuberculosis) in its apo- and ligand-bound forms. The structure adopted the GT-A fold and possessed the characteristic DXD motif that coordinated an Mn{sup 2+} ion. Atypical of most GTs characterized to date, MAP2569c exhibited specificity toward the donor substrate, UDP-glucose. The structure of this ligated complex revealed an induced fit binding mechanism and provided a basis for this unique specificity. Collectively, the structural features suggested that MAP2569c may adopt a 'retaining' enzymatic mechanism, which has implications for the classification of other GTs in this large superfamily.

Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

Directory of Open Access Journals (Sweden)

Julnar Usta

Full Text Available Genotype phenotype correlations in Wilson disease (WD are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state. We investigated 76 members of a single large Lebanese family. Their genotypes were determined, and clinical assessments were carried out for affected subjects. We also performed a literature search retrieving the phenotypes of patients carrying the same mutations of our patients in the homozygous or compound heterozygous state. There were 7 consanguineous marriages in this family and the prevalence of WD was 8.9% and of carriers of ATP7B mutation 44.7%. WD was confirmed in 9 out of 76 subjects. All 9 had the c.2299insC mutation, 5 homozygous and 4-compound heterozygous with p. Ala1003Thr. Six of our patients had hepatic, 2 had neurologic and 1 had asymptomatic phenotype. Based on our data and a literature review, clear phenotypes were reported for 38 patients worldwide carrying the c.2299insC mutation. About 53% of those have hepatic and 29% have neurologic phenotype. Furthermore, there were 10 compound heterozygous patients carrying the p. Ala1003Thr mutation. Among those, 80% having c.2299insC as the second mutation had hepatic phenotype, and all others had neurologic phenotype. We hereby report an association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype.

Association of the TCF7L2 rs12255372 (G/T variant with type 2 diabetes mellitus in an Iranian population

Directory of Open Access Journals (Sweden)

Faranak Mahmoudi Alami

2012-01-01

Full Text Available In various populations worldwide, common variants of the TCF7L2 (Transcription factor 7-like 2 gene are associated with the risk of type 2 diabetes mellitus (T2DM. The aim was to investigate the association between rs12255372 (G/T polymorphism in the TCF7L2 gene and T2DM in an Iranian population. 236 unrelated patients with T2DM, and 255 normoglycemic controls without diabetes were studied. The PCR-RFLP method was used for genotyping rs12255372 (G/T polymorphism, and the SPSS version 18.0 for Windows for statistical analysis. The minor T allele of TCF7L2 rs12255372 was found to significantly increase the risk of T2DM, with an allelic odds ratio (OR of 1.458 (95% CI 1.108-1.918, p = 0.007. A significant difference in TT genotype was observed between T2DM patients and normoglycemic controls (OR 2.038, 95% CI 1.147-3.623; p = 0.014. On assuming dominant and recessive models, ORs of 1.52 [95% CI (1.05-2.21 p = 0.026] and 1.74 [95% CI (1.01-3.00 p = 0.043] were obtained, respectively, thereby implying that the co-dominant model would best fit the susceptible gene effect. This study further confirms the TCF7L2 gene as enhancing susceptibility to the development of T2DM.

Linkage and association of haplotypes at the APOA1/C3/A4/A5 genecluster to familial combined hyperlipidemia

Energy Technology Data Exchange (ETDEWEB)

Eichenbaum-Voline, Sophie; Olivier, Michael; Jones, Emma L.; Naoumova, Rossitza P.; Jones, Bethan; Gau, Brian; Seed, Mary; Betteridge,D. John; Galton, David J.; Rubin, Edward M.; Scott, James; Shoulders,Carol C.; Pennacchio, Len A.

2002-09-15

Combined hyperlipidemia (CHL) is a common disorder of lipidmetabolism that leads to an increased risk of cardiovascular disease. Thelipid profile of CHL is characterised by high levels of atherogeniclipoproteins and low levels of high-density-lipoprotein-cholesterol.Apolipoprotein (APO) A5 is a newly discovered gene involved in lipidmetabolism located within 30kbp of the APOA1/C3/A4 gene cluster. Previousstudies have indicated that sequence variants in this cluster areassociated with increased plasma lipid levels. To establish whethervariation at the APOA5 gene contributes to the transmission of CHL, weperformed linkage and linkage disequilibrium (LD) tests on a large cohortof families (n=128) with familial CHL (FCHL). The linkage data producedevidence for linkage of the APOA1/C3/A4/A5 genomic interval to FCHL (NPL= 1.7, P = 0.042). The LD studies substantiated these data. Twoindependent rare alleles, APOA5c.56G and APOC3c.386G of this gene clusterwere over-transmitted in FCHL (P = 0.004 and 0.007, respectively), andthis was associated with a reduced transmission of the most commonAPOA1/C3/A4/A5 haplotype (frequency 0.4425) to affected subjects (P =0.013). The APOA5c.56G allele was associated with increased plasmatriglyceride levels in FCHL probands, whereas the second, andindependent, APOC3c.386G allele was associated with increased plasmatriglyceride levels in FCHL pedigree founders. Thus, this allele (or anallele in LD) may mark a quantitative trait associated with FCHL, as wellas representing a disease susceptibility locus for the condition. Thisstudy establishes that sequence variation in the APOA1/C3/A4/A5 genecluster contributes to the transmission of FCHL in a substantialproportion of affected families, and that these sequence variants mayalso contribute to the lipid abnormalities of the metabolic syndrome,which is present in up to 40 percent of persons with cardiovasculardisease.

Genome-Wide Identification, Characterization and Expression Analysis of the Solute Carrier 6 Gene Family in Silkworm (Bombyx mori).

Science.gov (United States)

Tang, Xin; Liu, Huawei; Chen, Quanmei; Wang, Xin; Xiong, Ying; Zhao, Ping

2016-10-03

The solute carrier 6 (SLC6) gene family, initially known as the neurotransmitter transporters, plays vital roles in the regulation of neurotransmitter signaling, nutrient absorption and motor behavior. In this study, a total of 16 candidate genes were identified as SLC6 family gene homologs in the silkworm (Bombyx mori) genome. Spatio-temporal expression patterns of silkworm SLC6 gene transcripts indicated that these genes were highly and specifically expressed in midgut, brain and gonads; moreover, these genes were expressed primarily at the feeding stage or adult stage. Levels of expression for most midgut-specific and midgut-enriched gene transcripts were down-regulated after starvation but up-regulated after re-feeding. In addition, we observed that expression levels of these genes except for BmSLC6-15 and BmGT1 were markedly up-regulated by a juvenile hormone analog. Moreover, brain-enriched genes showed differential expression patterns during wandering and mating processes, suggesting that these genes may be involved in modulating wandering and mating behaviors. Our results improve our understanding of the expression patterns and potential physiological functions of the SLC6 gene family, and provide valuable information for the comprehensive functional analysis of the SLC6 gene family.

Response of shallow water benthic foraminifera to a ¹³C-labeled food pulse in the laboratory

Digital Repository Service at National Institute of Oceanography (India)

Linshy, V.N.; Nigam, R; Heinz, P.

foraminifera in deep-sea food webs and carbon cycling In: Rowe GT, Pariente V (eds) Deep-Sea food chains and global carbon cycle, Kluwer Academic publishers, The Netherlands, p.63-91 Giullard RR, Ryther JH (1962) Studies of marine planktonic diatoms. I... afterwards to avoid the lysis of cells and stored at −80°C until freeze-drying. The final 13C- concentration in the algae was 75 atom % 13C. 2.3 Experiment Set-up Two time series were incubated for these investigations: one for Ammonia tepida and one...

Socioeconomic Implications of Achieving 2.0 °C and 1.5 °C Climate Targets under Scientific Uncertainties

Science.gov (United States)

Su, X.; Takahashi, K.; Fujimori, S.; Hasegawa, T.; Tanaka, K.; Shiogama, H.; Emori, S.; LIU, J.; Hanasaki, N.; Hijioka, Y.; Masui, T.

2017-12-01

temperature increase, a likely difference of up to 20.7 GtCO2-eq greenhouse gases (GHGs) in 2100 will occur in the assessment, or 14.4 GtCO2-eq GHGs difference for the 1.5 ºC case. The scientific uncertainties have significant impacts on evaluating costs of climate change and an appropriate representation of such uncertainties is important in the socioeconomic assessment.

Structure of Escherichia coli RutC, a member of the YjgF family and putative aminoacrylate peracid reductase of the rut operon

International Nuclear Information System (INIS)

Knapik, Aleksandra Alicja; Petkowski, Janusz Jurand; Otwinowski, Zbyszek; Cymborowski, Marcin Tadeusz; Cooper, David Robert; Chruszcz, Maksymilian; Krajewska, Wanda Małgorzata; Minor, Wladek

2012-01-01

The structure of the putative aminoacrylate peracid reductase RutC of the rut operon, a member of the YjgF family, is reported. RutC is the third enzyme in the Escherichia coli rut pathway of uracil degradation. RutC belongs to the highly conserved YjgF family of proteins. The structure of the RutC protein was determined and refined to 1.95 Å resolution. The crystal belonged to space group P2 1 2 1 2 and contained six molecules in the asymmetric unit. The structure was solved by SAD phasing and was refined to an R work of 19.3% (R free = 21.7%). The final model revealed that this protein has a Bacillus chorismate mutase-like fold and forms a homotrimer with a hydrophobic cavity in the center of the structure and ligand-binding clefts between two subunits. A likely function for RutC is the reduction of peroxy-aminoacrylate to aminoacrylate as a part of a detoxification process

Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases

NARCIS (Netherlands)

Adank, Muriel A.; Verhoef, Senno; Oldenburg, Rogier A.; Schmidt, Marjanka K.; Hooning, Maartje J.; Martens, John W. M.; Broeks, Annegien; Rookus, Matti; Waisfisz, Quinten; Witte, Birgit I.; Jonker, Marianne A.; Meijers-Heijboer, Hanne

2013-01-01

The CHEK2∗1100delC mutation confers a relative risk of two for breast cancer (BC) in the general population. This study aims to explore the excess cancer risk due to the CHEK2∗1100delC mutation within a familial non-BRCA1/2 breast cancer setting. Cancer incidences were compared between first degree

Crianças com câncer e suas famílias Niños con cáncer y sus familias Children with cancer and their families

Directory of Open Access Journals (Sweden)

Lucila Castanheira Nascimento

2005-12-01

Full Text Available O objetivo deste estudo é revisar a literatura relativa à criança com câncer e sua família, a fim de identificar temas que têm sido pesquisados e levantar indicadores de necessidades, subsidiando a sistematização da assistência de enfermagem. A coleta de dados sistemática foi realizada em bancos de dados informatizados, entre 1997 e 2002, utilizando-se as palavras-chave child, cancer, chronic illness/disease, family e nursing. Realizou-se, também, busca não-sistemática de publicações cient��ficas. Os resultados foram apresentados em três temas: impacto do câncer infantil no sistema familiar; processo de adaptação e estratégias de enfrentamento utilizadas pelos pais diante da doença e o processo de perda e luto diante da morte da criança. A revisão demonstrou que a enfermagem está construindo um conhecimento específico sobre as necessidades individuais, culturais e regionais das famílias de crianças com câncer, para uma assistência de enfermagem que considere o cuidado de acordo com a singularidade de cada caso.El objetivo en este estudio fue revisar la literatura relativa al niño con cáncer y su familia, a fin de identificar temas que hayan sido investigados y buscar indicadores de necesidades, subsidiando la sistematización de la asistencia de enfermería. La recolección sistemática de datos fue realizada en bancos de datos informatizados, entre 1997 y 2002, utilizándose las palabras clave child, cancer, chronic illness/disease, family e nursing. Se realizó, también, búsqueda no-sistemática de publicaciones científicas. Los resultados fueron presentados en tres temas: impacto del cáncer infantil en el sistema familiar; proceso de adaptación y estrategias de enfrentamiento utilizadas por los padres frente a la enfermedad y el proceso de pérdida y duelo frente a la muerte del niño. La revisión demostró que la enfermería está construyendo un conocimiento específico sobre las necesidades

New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.

Science.gov (United States)

Brand, Thomas; Schindler, Roland

2017-12-01

The cyclic 3',5'-adenosine monophosphate (cAMP) signalling pathway constitutes an ancient signal transduction pathway present in prokaryotes and eukaryotes. Previously, it was thought that in eukaryotes three effector proteins mediate cAMP signalling, namely protein kinase A (PKA), exchange factor directly activated by cAMP (EPAC) and the cyclic-nucleotide gated channels. However, recently a novel family of cAMP effector proteins emerged and was termed the Popeye domain containing (POPDC) family, which consists of three members POPDC1, POPDC2 and POPDC3. POPDC proteins are transmembrane proteins, which are abundantly present in striated and smooth muscle cells. POPDC proteins bind cAMP with high affinity comparable to PKA. Presently, their biochemical activity is poorly understood. However, mutational analysis in animal models as well as the disease phenotype observed in patients carrying missense mutations suggests that POPDC proteins are acting by modulating membrane trafficking of interacting proteins. In this review, we will describe the current knowledge about this gene family and also outline the apparent gaps in our understanding of their role in cAMP signalling and beyond. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Global carbon budget 2013

International Nuclear Information System (INIS)

Le Quere, C.; Moriarty, R.; Jones, S.D.; Boden, T.A.; Peters, G.P.; Andrew, R.M.; Andres, R.J.; Ciais, P.; Bopp, L.; Maignan, F.; Viovy, N.

2014-01-01

Accurate assessment of anthropogenic carbon dioxide (CO 2 ) emissions and their redistribution among the atmosphere, ocean, and terrestrial biosphere is important to better understand the global carbon cycle, support the development of climate policies, and project future climate change. Here we describe data sets and a methodology to quantify all major components of the global carbon budget, including their uncertainties, based on the combination of a range of data, algorithms, statistics and model estimates and their interpretation by a broad scientific community. We discuss changes compared to previous estimates, consistency within and among components, alongside methodology and data limitations. CO 2 emissions from fossil-fuel combustion and cement production (EFF) are based on energy statistics, while emissions from land-use change (ELUC), mainly deforestation, are based on combined evidence from land-cover change data, fire activity associated with deforestation, and models. The global atmospheric CO 2 concentration is measured directly and its rate of growth (GATM) is computed from the annual changes in concentration. The mean ocean CO 2 sink (SOCEAN) is based on observations from the 1990's, while the annual anomalies and trends are estimated with ocean models. The variability in SOCEAN is evaluated for the first time in this budget with data products based on surveys of ocean CO 2 measurements. The global residual terrestrial CO 2 sink (SLAND) is estimated by the difference of the other terms of the global carbon budget and compared to results of independent dynamic global vegetation models forced by observed climate, CO 2 and land cover change (some including nitrogen-carbon interactions). All uncertainties are reported as ±1, reflecting the current capacity to characterise the annual estimates of each component of the global carbon budget. For the last decade available (2003-2012), EFF was 8.6±0.4 GtC yr -1 , ELUC 0.9±0.5 GtC yr -1 , GATM 4.3±0

Members of the YjgF/YER057c/UK114 family of proteins inhibit phosphoribosylamine synthesis in vitro.

Science.gov (United States)

Lambrecht, Jennifer A; Browne, Beth Ann; Downs, Diana M

2010-11-05

The YjgF/YER057c/UK114 family of proteins is highly conserved across all three domains of life and currently lacks a consensus biochemical function. Analysis of Salmonella enterica strains lacking yjgF has led to a working model in which YjgF functions to remove potentially toxic secondary products of cellular enzymes. Strains lacking yjgF synthesize the thiamine precursor phosphoribosylamine (PRA) by a TrpD-dependent mechanism that is not present in wild-type strains. Here, PRA synthesis was reconstituted in vitro with anthranilate phosphoribosyltransferase (TrpD), threonine dehydratase (IlvA), threonine, and phosphoribosyl pyrophosphate. TrpD-dependent PRA formation in vitro was inhibited by S. enterica YjgF and the human homolog UK114. Thus, the work herein describes the first biochemical assay for diverse members of the highly conserved YjgF/YER057c/UK114 family of proteins and provides a means to dissect the cellular functions of these proteins.

Cloning of cDNA encoding steroid 11β-hydroxylase (P450c11)

International Nuclear Information System (INIS)

Chua, S.C.; Szabo, P.; Vitek, A.; Grzeschik, K.H.; John, M.; White, P.C.

1987-01-01

The authors have isolated bovine and human adrenal cDNA clones encoding the adrenal cytochrome P-450 specific for 11β-hydroxylation (P450c11). A bovine adrenal cDNA library constructed in the bacteriophage λ vector gt10 was probed with a previously isolated cDNA clone corresponding to part of the 3' untranslated region of the 4.2-kilobase (kb) mRNA encoding P450c11. Several clones with 3.2-kb cDNA inserts were isolated. Sequence analysis showed that they overlapped the original probe by 300 base pairs (bp). Combined cDNA and RNA sequence data demonstrated a continuous open reading frame of 1509 bases. P450c11 is predicted to contain 479 amino acid residues in the mature protein in addition to a 24-residue amino-terminal mitochondrial signal sequence. A bovine clone was used to isolate a homologous clone with a 3.5-kb insert from a human adrenal cDNA library. A region of 1100 bp was 81% homologous to 769 bp of the coding sequence of the bovine cDNA except for a 400-bp segment presumed to be an unprocessed intron. Hybridization of the human cDNA to DNA from a panel of human-rodent somatic cell hybrid lines and in situ hybridization to metaphase spreads of human chromosomes localized the gene to the middle of the long arm of chromosome 8. These data should be useful in developing reagents for heterozygote detection and prenatal diagnosis of 11β-hydroxylase deficiency, the second most frequent cause of congenital adrenal hyperplasia

Isolation, characterization and mapping of genes differentially ...

Indian Academy of Sciences (India)

integral membrane subunit integral m embrane. [Spirochaetathermophila. DSM. 6578] subunit. Contig29. (GT228392,. 324 gb. |ACU24256.1. |unknown. [Glycine m ax]. C. U24256.1. Unknown. 7. 5. 124. 312. 4E–27. GT228361,. GT228362). Contig30. (GT228396,. 964 ref|YP_002544524.1. |peptidyl prolyl. YP_002544524.1.

GT-MHR COMMERCIALZATION STUDY. TECHNICAL PROGRESS AND COST MANAGEMENT REPORT FOR THE PERIOD JUNE 1 THROUGH JUNE 30, 2003

International Nuclear Information System (INIS)

SHENOY, A.S.

2003-01-01

A271 GT-MHR COMMERCIALZATION STUDY TECHNICAL PROGRESS AND COST MANAGEMENT REPORT FOR THE PERIOD JUNE 1 THROUGH JUNE 30, 2003. Petten was provided with irradiation dimensional change data for both fuel compacts and H-451 graphite for design of the graphite sleeves that hold the fuel compacts to be irradiated in HFR-EU2. The Fuel Sample Product Specification for the Fuel Performance Irradiation Test Capsule MHR-2 was completed and approved. A Work Breakdown Structure was prepared for the development and qualification of advanced coated-particle fuels capable of meeting anticipated fuel performance requirements and work was initiated on preparation of schedules and a cost estimates for the test matrices

Discrepancies in historical emissions point to a wider 2020 gap between 2 deg. C benchmarks and aggregated national mitigation pledges

International Nuclear Information System (INIS)

Rogelj, Joeri; Hare, William; Chen, Claudine; Meinshausen, Malte

2011-01-01

Aggregations of greenhouse gas mitigation pledges by countries are frequently used to indicate whether resulting global emissions in 2020 will be 'on track' to limit global temperature increase to below specific warming levels such as 1.5 or 2 deg. C. We find that historical emission levels aggregated from data that are officially reported by countries to the UNFCCC are lower than independent global emission estimates, such as the IPCC SRES scenarios. This discrepancy in historical emissions could substantially widen the gap between 2020 pledges and 2020 benchmarks, as the latter tend to be derived from scenarios that share similar historical emission levels to IPCC SRES scenarios. Three methods for resolving this discrepancy, here called 'harmonization', are presented and their influence on 'gap' estimates is discussed. Instead of a 3.4-9.2 GtCO 2 eq shortfall in emission reductions by 2020 compared with the 44 GtCO 2 eq benchmark, the actual gap might be as high as 5.4-12.5 GtCO 2 eq (a 22-88% increase of the gap) if this historical discrepancy is accounted for. Not applying this harmonization step when using 2020 emission benchmarks could lead to an underestimation of the insufficiency of current mitigation pledges.

CD28/CTLA-4/ICOS haplotypes confers susceptibility to Graves' disease and modulates clinical phenotype of disease.

Science.gov (United States)

Pawlak-Adamska, Edyta; Frydecka, Irena; Bolanowski, Marek; Tomkiewicz, Anna; Jonkisz, Anna; Karabon, Lidia; Partyka, Anna; Nowak, Oskar; Szalinski, Marek; Daroszewski, Jacek

2017-01-01

Graves' disease, an autoimmune disease with heterogeneous symptoms including Graves' orbitopathy, has a combined genetic/environmental background, where variations within CD28/CTLA-4/ICOS genes are considered as disease markers.Association of CD28c.17+3T>C(rs3116496), CTLA-4g.319C>T(rs5742909), CTLA-4c.49A>G(rs231775), CTLA-4g.*642AT(8_33), CT60(rs3087243), Jo31(rs11571302), ICOSc.1554+4GT(8_15) polymorphisms with susceptibility to Graves' disease and clinical outcome was investigated. The study group comprised of 561 Polish Caucasians, including 172 unrelated Graves' disease patients. CTLA-4c.49A>G, CTLA-4g.319C>T, and CT60 were genotyped by PCR-RFLP; Jo31 and CD28c.17+3C>T by minisequencing; CTLA-4g.*642AT(8_33) and ICOSc.1554+4GT(8_15)-PCR and fluorescence-based technique. CD28c.17+3T>C(rs3116496)T/CTLA-4g.319C>T(rs5742909)C/CTLA-4c.49A>G(rs231775)G/CTLA-4g.*642AT(8_33)(AT 16-21 )/CT60(rs3087243)G/Jo31(rs11571302)G/ICOSc.1554+4GT(8_15)(m) and TCA(AT Graves' disease, especially in males, as well as overall Graves' orbitopathy development with severe outcome. TCG(AT 16-21 )GG(l) haplotype increased risk of Graves' disease and reduced the chance of successful medical treatment. Although this haplotype was mainly observed in patients without signs of Graves' orbitopathy, if Graves' orbitopathy developed it favored a Graves' orbitopathy outcome. Haplotype TCA(AT >21 )GT(m) increased Graves' disease risk in women and, in all patients, was linked to Graves' disease without Graves' orbitopathy. TCG(AT Graves' disease risk factor, whereas CT60 was an independent factor for disease progression. Sporadic Graves' disease was related to presence of CTLA-4c.49A>G[A] and the rare CTLA-4g.319C>T[T] allele variant. Familial background of the disease was exclusively associated with CTLA-4g.*642AT(8_33)[AT >21 ]/[AT >21 ] genotype. CD28/CTLA-4/ICOS loci may confer inherited susceptibility to Graves' disease or may be involved in susceptibility to Graves' disease and play a

The family Planococcaceae

Digital Repository Service at National Institute of Oceanography (India)

Shivaji, S.; Srinivas, T.N.R.; Reddy, G.S.N.

rods in case of other genera Diagnostic amino acid in the peptidoglycan is l-lysine with a peptidoglycan variation of A4alfa type Most dominating fatty acids of the family are iso-C_15:0 or anteiso-C_15:0 or iso-C_16:0 or C...

Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta

Science.gov (United States)

Jia, Mingrui; Shi, Ranran; Zhao, Xuli; Fu, Zhijian; Bai, Zhijing; Sun, Tao; Zhao, Xuejun; Wang, Wenbo; Xu, Chao; Yan, Fang

2017-01-01

Abstract Mutation analysis as the gold standard is particularly important in diagnosis of osteogenesis imperfecta (OI) and it may be preventable upon early diagnosis. In this study, we aimed to analyze the clinical and genetic materials of an OI pedigree as well as to confirm the deleterious property of the mutation. A pedigree with OI was identified. All family members received careful clinical examinations and blood was drawn for genetic analyses. Genes implicated in OI were screened for mutation. The function and structure of the mutant protein were predicted using bioinformatics analysis. The proband, a 9-month fetus, showed abnormal sonographic images. Disproportionately short and triangular face with blue sclera was noticed at birth. She can barely walk and suffered multiple fractures till 2-year old. Her mother appeared small stature, frequent fractures, blue sclera, and deformity of extremities. A heterozygous missense mutation c.1009G>T (p.G337C) in the COL1A2 gene was identified in her mother and her. Bioinformatics analysis showed p.G337 was well-conserved among multiple species and the mutation probably changed the structure and damaged the function of collagen. We suggest that the mutation p.G337C in the COL1A2 gene is pathogenic for OI by affecting the protein structure and the function of collagen. PMID:28953610

Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs

International Nuclear Information System (INIS)

Kimura, S.; Kotani, T.; McBride, O.W.; Umeki, K.; Hirai, K.; Nakayama, T.; Ohtaki, S.

1987-01-01

Two forms of human thyroid peroxidase cDNAs were isolated from a λgt11 cDNA library, prepared from Graves disease thyroid tissue mRNA, by use of oligonucleotides. The longest complete cDNA, designated phTPO-1, has 3048 nucleotides and an open reading frame consisting of 933 amino acids, which would encode a protein with a molecular weight of 103,026. Five potential asparagine-linked glycosylation sites are found in the deduced amino acid sequence. The second peroxidase cDNA, designated phTPO-2, is almost identical to phTPO-1 beginning 605 base pairs downstream except that it contains 1-base-pair difference and lacks 171 base pairs in the middle of the sequence. This results in a loss of 57 amino acids corresponding to a molecular weight of 6282. Interestingly, this 171-nucleotide sequence has GT and AG at its 5' and 3' boundaries, respectively, that are in good agreement with donor and acceptor splice site consensus sequences. Using specific oligonucleotide probes for the mRNAs derived from the cDNA sequences hTOP-1 and hTOP-2, the authors show that both are expressed in all thyroid tissues examined and the relative level of two mRNAs is different in each sample. The results suggest that two thyroid peroxidase proteins might be generated through alternate splicing of the same gene. By using somatic cell hybrid lines, the thyroid peroxidase gene was mapped to the short arm of human chromosome 2

Identification of cDNA clones expressing immunodiagnostic antigens from Trichinella spiralis

International Nuclear Information System (INIS)

Zarlenga, D.; Gamble, H.R.

1987-01-01

A cDNA expression library was built in lambda gt11 phage using poly A mRNA isolated from Trichinella spiralis muscle stage larvae. This library was screened with rabbit antibodies to parasite excretory-secretory (ES) products and greater than 180 clones were isolated. Thirteen clones producing highly immunogenic protein antigens were plaque purified and rescreened with pig antisera to T.spiralis, Trichuris suis or Ascaris suum to identify clones producing epitopes specific to T.spiralis ES products, only. Two clones, TsAc-2 and TsAc-8, which displayed strong interactions with pig antisera to T. spiralis were lysogenized in E. coli Y1089 and the protein extracted. Western blots of the crude fusion proteins revealed molecular weights of 133 kD and 129 kD, respectively. Northern blot analysis of total RNA with 32 P labelled cDNA:lambda gt11 probes indicated single RNA transcripts for each clone with molecular sizes corresponding to 800-850 nucleotides. dscDNA inserts were estimated by southern blot analysis to be 500 bp and 340 bp, respectively, with no cross-hybridization observed between the cloned sequences. Dot blots using pig sera to screen crude fusion protein preparations, total bacterial protein (negative controls) and crude worm extract or ES products from T.spiralis, T.suis and A.suum (positive controls) corroborated the specificity and sensitivity of these clones as potential diagnostic antigens for swine trichinellosis

The influence of family history of cancer, irradiation and anticancer medication (mitomycin C), on the occurrence of multiple primary neoplasms with breast cancer

International Nuclear Information System (INIS)

Yoshimoto, Masataka; Kasumi, Fujio; Fukami, Atsuo; Nishi, Mitsumasa; Kajitani, Tamaki; Sakamoto, Goi

1985-01-01

The influence of family history of cancer, radiation therapy and anticancer drug therapy (mitomycin C) on the occurrence of multiple primary neoplasms, following treatment of a first primary cancer of the breast, was analyzed by the person-year method in 1,359 patients, in Japan. During 14,371.8 person-years of observation, 111 multiple primary neoplasms including bilateral breast cancers were found in 109 patients. The incidence rate of multiple primary neoplasms were 0.00772 per person-year. The incidence in patients with a family history of cancer was 1.29 times greater than that in patients without such a family history, and the incidence in patients with a family history of breast cancer was about three times greater than that in those without it (p < 0.01). Radiation therapy raised the occurrence of subsequent primary neoplasms 1.28-fold (or 1.62 fold after 5 years), and mitomycin C (a total dose of 0.8 mg/kg) therapy caused no increase in the occurrence of subsequent primary cancers, after an observation of 10 years or so. (author)

Ca Mn exchange between grossular and MnCl2 solutions at 2 kbar and 600°°C: reaction mechanism and evidence for non-ideal mixing in spessartine-grossular garnets

Science.gov (United States)

Gavrieli, I.; Matthews, Alan; Holland, J. B.

1996-10-01

The hydrothermal reaction between grossular and 1 molar manganese chloride solution was studied at 2 kbar and 600 °C at various bulk Ca/(Ca+Mn) compositions: Ca3Al2Si3O12+3Mn2+(aq) ⇔ Mn3Al2Si3O12+3Ca2+(aq) The reaction products are garnets of the spessartine-grossular solid-solution series which discontinuously armour the dissolving grossular grains. The first garnet to crystallize is spessartine rich ( X gt Mn≥0.95), reflecting the high Mn content of the solution, but as the reaction proceeds more calcium-rich garnets progressively overgrow the initial products. The armouring product layer is detached from the dissolving grossular, which allows the progressive overgrowth to occur on both its external and internal surfaces and results in the development of a two directional Ca/(Ca+Mn) zoning pattern in the product grains. The compositional changes in the run products are consistent with attainment of heterogeneous equilibrium between the external rims of the spessartine-grossular garnets and the bulk solutions in runs of duration ≥24 hours. Plots of ln KD versus X gt Ca maxima show linear variations that are not consistent with the ideal mixing that has been proposed for spessartine-grossular garnets at temperatures of 900 to 1200 °C. The data rather fit a regular solution model with the parameters Δ G° (600 °C, 2 kbar)=-8.0±0.8 kJ/mol and w gt CaMn=2.6±2.0 kJ/mol. Existing solubility measurements and thermodynamic data from other Ca and Mn silicates support the calculated data. Grossular activities calculated using the w gt CaMn parameter indicate that even in manganese-rich metapelites pressure estimates calculated using the garnet-plagioclase-Al2SiO5-quartz barometer will not be increased by more than 0.2 kbar.

Environment-friendly type energy and coordinated community development project. Feasibility study for industrialization of high efficiency waste-fired power generation system (industrial refuse derived fuel and gas turbine combined type); Kankyo chowagata energy community keisei sokushin. Kokoritsu haikibutsu hatsuden (sangyo RDF GT fukugogata) jigyoka FS chosa

Energy Technology Data Exchange (ETDEWEB)

NONE

1996-03-01

High efficiency power generation, which is useful for promoting the environment-friendly type energy and coordinated community, is investigated by combining a steam turbine power generation system using the PS-RDF (paper sludge-refuse derived fuel) and a gas turbine (GT) combined cycle. Industrialization plan for processing PS in low cost has been made to ensure the profitability by participating the wholesale power supply under the law of electric power industry. This combined system is similar to the so-called super power generation using municipal garbage, but the lower temperature of steam from GT waste heat boilers (WHB) is super-heated by the flue gas from RDF boiler, which is called advanced power generation system (A.S.S.). The total power generation capacity is 149,000 kW, which consists of three 35,000 kW units of GT and one 44,000 kW unit of steam turbine. When comparing the combined system (A.S.S.) and usual one with the independent installation of the RDF steam power generation system and a GT combined cycle, the A.S.S. provides the repowering efficiency of 7,600 kW output with exactly the same quantity of fuel input as usual one. 71 figs., 31 tabs.

Coping with family-to-work conflict: the role of informal work accommodations to family.

Science.gov (United States)

Behson, Scott J

2002-10-01

The purposes of this study are to (a) construct and validate a scale measuring informal work accommodations to family (IWAF), (b) test the moderating effect of IWAF on the relationship between family-to-work conflict and work stress, and (c) examine the relationships between IWAF and a set of relevant antecedents and coping constructs. Two survey-based nonexperiments are used to accomplish these goals. Results indicate that (a) the IWAF scale is reliable, content valid, and meaningfully correlated to work-family and coping constructs; (b) more frequent use of IWAF attenuates the positive relationship between family-to-work conflict and stress; and (c) IWAF, along with organizational policies and climates, may be important for workplace stress management. Implications for research and practice are discussed.

Conservation and divergence of C-terminal domain structure in the retinoblastoma protein family

Energy Technology Data Exchange (ETDEWEB)

Liban, Tyler J.; Medina, Edgar M.; Tripathi, Sarvind; Sengupta, Satyaki; Henry, R. William; Buchler, Nicolas E.; Rubin, Seth M. (UCSC); (Duke); (MSU)

2017-04-24

The retinoblastoma protein (Rb) and the homologous pocket proteins p107 and p130 negatively regulate cell proliferation by binding and inhibiting members of the E2F transcription factor family. The structural features that distinguish Rb from other pocket proteins have been unclear but are critical for understanding their functional diversity and determining why Rb has unique tumor suppressor activities. We describe here important differences in how the Rb and p107 C-terminal domains (CTDs) associate with the coiled-coil and marked-box domains (CMs) of E2Fs. We find that although CTD–CM binding is conserved across protein families, Rb and p107 CTDs show clear preferences for different E2Fs. A crystal structure of the p107 CTD bound to E2F5 and its dimer partner DP1 reveals the molecular basis for pocket protein–E2F binding specificity and how cyclin-dependent kinases differentially regulate pocket proteins through CTD phosphorylation. Our structural and biochemical data together with phylogenetic analyses of Rb and E2F proteins support the conclusion that Rb evolved specific structural motifs that confer its unique capacity to bind with high affinity those E2Fs that are the most potent activators of the cell cycle.

Gabbroic lithologies of the dike-gabbro transition, Hole GT3A, Oman Drilling Project

Science.gov (United States)

Jesus, A. P. M.; Koepke, J.; Morishita, T.; Beinlich, A.; Johnson, K. T. M.; Greenberger, R. N.; Harris, M.; Michibayashi, K.; de Obeso, J. C.

2017-12-01

Hole GT3A intersects 400 m of oceanic crust providing unique insight into the dike-gabbro transition and the variability of the high level gabbros in the Samail ophiolite. Olivine gabbro and olivine bearing gabbro occur exclusively within the Upper Gabbro Sequence (16 % thickness; 111.02 m - 127.89 m) whereas oxide gabbro and disseminated oxide gabbro represent ca 5 % of the Lower Gabbro Sequence (233.84 m - 398.21 m). Gabbro with less than 1 vol. % olivine and oxide is the most common lithology in both Gabbro Sequences (10-13 %). Most gabbroic rocks were classified as "varitextured" due to textural and grain size macroscopic variations forming irregular domains/patches. Varitextured gabbros are medium-grained (1-5 mm), with seriate grain size distribution and subophitic/poikilitic to granular textural domains. Poikilitic domains comprise clinopyroxene with plagioclase chadacrysts, whereas in granular domains plagioclase interstices are filled by green-brown magmatic hornblende; plagioclase is zoned in both domains. Olivine (bearing) gabbros have 4-8 mm skeletal olivine pseudomorphs with roundish inclusions of chromite and plagioclase. Oxide (disseminated) gabbros comprise variable amounts of plagioclase, clinopyroxene, Oman paleo ridge.

Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.

Science.gov (United States)

Cariola, Filomena; Disciglio, Vittoria; Valentini, Anna M; Lotesoriere, Claudio; Fasano, Candida; Forte, Giovanna; Russo, Luciana; Di Carlo, Antonio; Guglielmi, Floranna; Manghisi, Andrea; Lolli, Ivan; Caruso, Maria L; Simone, Cristiano

2018-04-01

Lynch syndrome is caused by germline mutations in one of the mismatch repair genes ( MLH1, MSH2, MSH6, and PMS2) or in the EPCAM gene. Lynch syndrome is defined on the basis of clinical, pathological, and genetic findings. Accordingly, the identification of predisposing genes allows for accurate risk assessment and tailored screening protocols. Here, we report a family case with three family members manifesting the Lynch syndrome phenotype, all of which harbor the rare variant c.2635-2A>G affecting the splice site consensus sequence of intron 15 of the MSH2 gene. This mutation was previously described only in one family with Lynch syndrome, in which mismatch repair protein expression in tumor tissues was not assessed. In this study, we report for the first time the molecular characterization of the MSH2 c.2635-2A>G variant through in silico prediction analysis, microsatellite instability, and mismatch repair protein expression experiments on tumor tissues of Lynch syndrome patients. The potential effect of the splice site variant was revealed by three splicing prediction bioinformatics tools, which suggested the generation of a new cryptic splicing site. The potential pathogenic role of this variant was also revealed by the presence of microsatellite instability and the absence of MSH2/MSH6 heterodimer protein expression in the tumor cells of cancer tissues of the affected family members. We provide compelling evidence in favor of the pathogenic role of the MSH2 variant c.2635-2A>G, which could induce an alteration of the canonical splice site and consequently an aberrant form of the protein product (MSH2).

Human tissue factor: cDNA sequence and chromosome localization of the gene

International Nuclear Information System (INIS)

Scarpati, E.M.; Wen, D.; Broze, G.J. Jr.; Miletich, J.P.; Flandermeyer, R.R.; Siegel, N.R.; Sadler, J.E.

1987-01-01

A human placenta cDNA library in λgt11 was screened for the expression of tissue factor antigens with rabbit polyclonal anti-human tissue factor immunoglobulin G. Among 4 million recombinant clones screened, one positive, λHTF8, expressed a protein that shared epitopes with authentic human brain tissue factor. The 1.1-kilobase cDNA insert of λHTF8 encoded a peptide that contained the amino-terminal protein sequence of human brain tissue factor. Northern blotting identified a major mRNA species of 2.2 kilobases and a minor species of ∼ 3.2 kilobases in poly(A) + RNA of placenta. Only 2.2-kilobase mRNA was detected in human brain and in the human monocytic U937 cell line. In U937 cells, the quantity of tissue factor mRNA was increased several fold by exposure of the cells to phorbol 12-myristate 13-acetate. Additional cDNA clones were selected by hybridization with the cDNA insert of λHTF8. These overlapping isolates span 2177 base pairs of the tissue factor cDNA sequence that includes a 5'-noncoding region of 75 base pairs, an open reading frame of 885 base pairs, a stop codon, a 3'-noncoding region of 1141 base pairs, and a poly(a) tail. The open reading frame encodes a 33-kilodalton protein of 295 amino acids. The predicted sequence includes a signal peptide of 32 or 34 amino acids, a probable extracellular factor VII binding domain of 217 or 219 amino acids, a transmembrane segment of 23 acids, and a cytoplasmic tail of 21 amino acids. There are three potential glycosylation sites with the sequence Asn-X-Thr/Ser. The 3'-noncoding region contains an inverted Alu family repetitive sequence. The tissue factor gene was localized to chromosome 1 by hybridization of the cDNA insert of λHTF8 to flow-sorted human chromosomes

Evolution, functional differentiation, and co-expression of the RLK gene family revealed in Jilin ginseng, Panax ginseng C.A. Meyer.

Science.gov (United States)

Lin, Yanping; Wang, Kangyu; Li, Xiangyu; Sun, Chunyu; Yin, Rui; Wang, Yanfang; Wang, Yi; Zhang, Meiping

2018-02-21

Most genes in a genome exist in the form of a gene family; therefore, it is necessary to have knowledge of how a gene family functions to comprehensively understand organismal biology. The receptor-like kinase (RLK)-encoding gene family is one of the most important gene families in plants. It plays important roles in biotic and abiotic stress tolerances, and growth and development. However, little is known about the functional differentiation and relationships among the gene members within a gene family in plants. This study has isolated 563 RLK genes (designated as PgRLK genes) expressed in Jilin ginseng (Panax ginseng C.A. Meyer), investigated their evolution, and deciphered their functional diversification and relationships. The PgRLK gene family is highly diverged and formed into eight types. The LRR type is the earliest and most prevalent, while only the Lec type originated after P. ginseng evolved. Furthermore, although the members of the PgRLK gene family all encode receptor-like protein kinases and share conservative domains, they are functionally very diverse, participating in numerous biological processes. The expressions of different members of the PgRLK gene family are extremely variable within a tissue, at a developmental stage and in the same cultivar, but most of the genes tend to express correlatively, forming a co-expression network. These results not only provide a deeper and comprehensive understanding of the evolution, functional differentiation and correlation of a gene family in plants, but also an RLK genic resource useful for enhanced ginseng genetic improvement.

Mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia

International Nuclear Information System (INIS)

Chan, S.J.; Seino, S.; Gruppuso, P.A.; Schwartz, R.; Steiner, D.F.

1987-01-01

A family has recently been described in which hyperproinsulinemia is inherited in an autosomal dominant pattern, suggesting a structural abnormality in the proinsulin molecule as the basis for this disorder. However, unlike two previous kindreds with a similar syndrome, the serum proinsulin-like material in this family did not appear to be an intermediate conversion product but instead behaved like normal human proinsulin by several criteria. To further characterize this disorder the authors isolated and sequenced the insulin gene of the propositus. Leukocyte DNA was cloned in λgt-WES and recombinants containing the two insulin alleles, λMD41 and λMD51, were isolated by plaque hybridization. DNA sequencing of λMD51 showed that it contained the normal coding sequence for human preproinsulin. Sequence analysis of λMD41, however, revealed a single nucleotide substitution in the codon for residue 10 of proinsulin (CAC → GAC) that predicts the exchange of aspartic acid for histidine in the insulin B chain region. This mutation was also found in an insulin allele cloned from a second affected family member (propositus's father). These results strongly implicate this mutation as the cause of the hyperproinsulinemia in this family. Inhibition of the conversion of proinsulin to insulin may be related to altered folding and/or self-association properties of the [Asp 10 ]proinsulin

Insights into the Evolution of a Snake Venom Multi-Gene Family from the Genomic Organization of Echis ocellatus SVMP Genes

Directory of Open Access Journals (Sweden)

Libia Sanz

2016-07-01

Full Text Available The molecular events underlying the evolution of the Snake Venom Metalloproteinase (SVMP family from an A Disintegrin And Metalloproteinase (ADAM ancestor remain poorly understood. Comparative genomics may provide decisive information to reconstruct the evolutionary history of this multi-locus toxin family. Here, we report the genomic organization of Echis ocellatus genes encoding SVMPs from the PII and PI classes. Comparisons between them and between these genes and the genomic structures of Anolis carolinensis ADAM28 and E. ocellatus PIII-SVMP EOC00089 suggest that insertions and deletions of intronic regions played key roles along the evolutionary pathway that shaped the current diversity within the multi-locus SVMP gene family. In particular, our data suggest that emergence of EOC00028-like PI-SVMP from an ancestral PII(e/d-type SVMP involved splicing site mutations that abolished both the 3′ splice AG acceptor site of intron 12* and the 5′ splice GT donor site of intron 13*, and resulted in the intronization of exon 13* and the consequent destruction of the structural integrity of the PII-SVMP characteristic disintegrin domain.

Molecular cloning, expression, and sequence analysis of GPRC6A, a novel family C G-protein-coupled receptor

DEFF Research Database (Denmark)

Wellendorph, Petrine; Bräuner-Osborne, Hans

2004-01-01

with a significant homology to the human calcium-sensing receptor (CaR, 34% aa sequence identity), the taste receptor 1 (T1R1, 28%), and the metabotropic glutamate receptor 1 (mGluR1, 24%), places GPRC6A in family C of the GPCRs. Interestingly, GPRC6A bears the highest resemblance with an odorant goldfish 5...

GT-MHR COMMERCIALZATION STUDY. TECHNICAL PROGRESS AND COST MANAGEMENT REPORT FOR THE PERIOD MAY 1 THROUGH MAY 31, 2003

International Nuclear Information System (INIS)

SHENOY, A.S.

2003-01-01

A271 GT-MHR COMMERCIALZATION STUDY TECHNICAL PROGRESS AND COST MANAGEMENT REPORT FOR THE PERIOD MAY 1 THROUGH MAY 31, 2003. Petten advised GA the start of the HFR-EU2 irradiation is being delayed until late July 2004. HFR-EU1 (pebble fuel) is also delayed until February/March 2004. The reason for the delays was implementation of new financial regulations at Petten that delayed the contracts for capsule fabrication. Review of the MHR-2 Fuel Product Specification was completed. Revision of the specification to incorporate the review results is in progress. Detailed test matrices have been drafted for capsule irradiation tests and for post-irradiation heating tests proposed for development and qualification of advanced coated-particle fuels capable of meeting anticipated VHTR fuel performance requirements

Characterization of cDNA encoding human placental anticoagulant protein (PP4): Homology with the lipocortin family

International Nuclear Information System (INIS)

Grundmann, U.; Abel, K.J.; Bohn, H.; Loebermann, H.; Lottspeich, F.; Kuepper, H.

1988-01-01

A cDNA library prepared from human placenta was screened for sequences encoding the placental protein 4 (PP4). PP4 is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade. Partial amino acid sequence information from PP4-derived cyanogen bromide fragments was used to design three oligonucleotide probes for screening the library. From 10 6 independent recombinants, 18 clones were identified that hybridized to all three probes. These 18 recombinants contained cDNA inserts encoding a protein of 320 amino acid residues. In addition to the PP4 cDNA the authors identified 9 other recombinants encoding a protein with considerable similarity (74%) to PP4, which was termed PP4-X. PP4 and PP4-X belong to the lipocortin family, as judged by their homology to lipocortin I and calpactin I

Almost computably enumerable families of sets

International Nuclear Information System (INIS)

Kalimullin, I Sh

2008-01-01

An almost computably enumerable family that is not Φ'-computably enumerable is constructed. Moreover, it is established that for any computably enumerable (c.e.) set A there exists a family that is X-c.e. if and only if the set X is not A-computable. Bibliography: 5 titles.

Purification, crystallization and preliminary X-ray crystallographic analysis of ST1022, a putative member of the Lrp/AsnC family of transcriptional regulators isolated from Sulfolobus tokodaii strain 7

Energy Technology Data Exchange (ETDEWEB)

Nakano, Noboru; Kumarevel, Thirumananseri, E-mail: tskvel@spring8.or.jp; Matsunaga, Emiko; Shinkai, Akeo [RIKEN SPring-8 Center, Harima Institute, 1-1-1 Kouto, Sayo, Hyogo 679-5148 (Japan); Kuramitsu, Seiki [RIKEN SPring-8 Center, Harima Institute, 1-1-1 Kouto, Sayo, Hyogo 679-5148 (Japan); Department of Biological Sciences, Graduate School of Science, Osaka University, Tayonaka, Osaka 560-0043 (Japan); Yokoyama, Shigeyuki, E-mail: tskvel@spring8.or.jp [RIKEN SPring-8 Center, Harima Institute, 1-1-1 Kouto, Sayo, Hyogo 679-5148 (Japan); Genomic Sciences Center, Yokohama Institute, RIKEN, 1-7-22 Suehiro-cho, Tsurumi, Yokohama 230-0045 (Japan); Department of Biophysics and Biochemistry, Graduate School of Science, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan)

2007-11-01

A putative member of the Lrp/AsnC family of transcriptional regulators, ST1022 from S. tokodaii strain 7, has been purified and crystallized in the absence and presence of the effector l-glutamine. A molecular-replacement solution was found using the FL11 transcriptional regulator from Pyrococcus sp. OT3 as a model and structural refinement is under way. The Lrp/AsnC family of transcriptional regulators, also known as feast/famine transcriptional regulators, are widely distributed among bacteria and archaea. This family of proteins are likely to be involved in cellular metabolism, with exogenous amino acids functioning as effectors. Here, the crystallization and preliminary X-ray diffraction analysis of ST1022, a member of the Lrp/AsnC family of proteins, is reported with and without exogenous glutamine as the effector molecule. The crystals of native ST1022 and of the putative complex belong to the tetragonal space group I422, with unit-cell parameters a = b = 103.771, c = 73.297 Å and a = b = 103.846, c = 73.992 Å, respectively. Preliminary X-ray diffraction data analysis and molecular-replacement solution revealed the presence of one monomer per asymmetric unit.

Purification, crystallization and preliminary X-ray crystallographic analysis of ST1022, a putative member of the Lrp/AsnC family of transcriptional regulators isolated from Sulfolobus tokodaii strain 7

International Nuclear Information System (INIS)

Nakano, Noboru; Kumarevel, Thirumananseri; Matsunaga, Emiko; Shinkai, Akeo; Kuramitsu, Seiki; Yokoyama, Shigeyuki

2007-01-01

A putative member of the Lrp/AsnC family of transcriptional regulators, ST1022 from S. tokodaii strain 7, has been purified and crystallized in the absence and presence of the effector l-glutamine. A molecular-replacement solution was found using the FL11 transcriptional regulator from Pyrococcus sp. OT3 as a model and structural refinement is under way. The Lrp/AsnC family of transcriptional regulators, also known as feast/famine transcriptional regulators, are widely distributed among bacteria and archaea. This family of proteins are likely to be involved in cellular metabolism, with exogenous amino acids functioning as effectors. Here, the crystallization and preliminary X-ray diffraction analysis of ST1022, a member of the Lrp/AsnC family of proteins, is reported with and without exogenous glutamine as the effector molecule. The crystals of native ST1022 and of the putative complex belong to the tetragonal space group I422, with unit-cell parameters a = b = 103.771, c = 73.297 Å and a = b = 103.846, c = 73.992 Å, respectively. Preliminary X-ray diffraction data analysis and molecular-replacement solution revealed the presence of one monomer per asymmetric unit

Global Carbon Budget 2017

Science.gov (United States)

Le Quéré, Corinne; Andrew, Robbie M.; Friedlingstein, Pierre; Sitch, Stephen; Pongratz, Julia; Manning, Andrew C.; Korsbakken, Jan Ivar; Peters, Glen P.; Canadell, Josep G.; Jackson, Robert B.; Boden, Thomas A.; Tans, Pieter P.; Andrews, Oliver D.; Arora, Vivek K.; Bakker, Dorothee C. E.; Barbero, Leticia; Becker, Meike; Betts, Richard A.; Bopp, Laurent; Chevallier, Frédéric; Chini, Louise P.; Ciais, Philippe; Cosca, Catherine E.; Cross, Jessica; Currie, Kim; Gasser, Thomas; Harris, Ian; Hauck, Judith; Haverd, Vanessa; Houghton, Richard A.; Hunt, Christopher W.; Hurtt, George; Ilyina, Tatiana; Jain, Atul K.; Kato, Etsushi; Kautz, Markus; Keeling, Ralph F.; Klein Goldewijk, Kees; Körtzinger, Arne; Landschützer, Peter; Lefèvre, Nathalie; Lenton, Andrew; Lienert, Sebastian; Lima, Ivan; Lombardozzi, Danica; Metzl, Nicolas; Millero, Frank; Monteiro, Pedro M. S.; Munro, David R.; Nabel, Julia E. M. S.; Nakaoka, Shin-ichiro; Nojiri, Yukihiro; Padin, X. Antonio; Peregon, Anna; Pfeil, Benjamin; Pierrot, Denis; Poulter, Benjamin; Rehder, Gregor; Reimer, Janet; Rödenbeck, Christian; Schwinger, Jörg; Séférian, Roland; Skjelvan, Ingunn; Stocker, Benjamin D.; Tian, Hanqin; Tilbrook, Bronte; Tubiello, Francesco N.; van der Laan-Luijkx, Ingrid T.; van der Werf, Guido R.; van Heuven, Steven; Viovy, Nicolas; Vuichard, Nicolas; Walker, Anthony P.; Watson, Andrew J.; Wiltshire, Andrew J.; Zaehle, Sönke; Zhu, Dan

2018-03-01

Accurate assessment of anthropogenic carbon dioxide (CO2) emissions and their redistribution among the atmosphere, ocean, and terrestrial biosphere - the global carbon budget - is important to better understand the global carbon cycle, support the development of climate policies, and project future climate change. Here we describe data sets and methodology to quantify the five major components of the global carbon budget and their uncertainties. CO2 emissions from fossil fuels and industry (EFF) are based on energy statistics and cement production data, respectively, while emissions from land-use change (ELUC), mainly deforestation, are based on land-cover change data and bookkeeping models. The global atmospheric CO2 concentration is measured directly and its rate of growth (GATM) is computed from the annual changes in concentration. The ocean CO2 sink (SOCEAN) and terrestrial CO2 sink (SLAND) are estimated with global process models constrained by observations. The resulting carbon budget imbalance (BIM), the difference between the estimated total emissions and the estimated changes in the atmosphere, ocean, and terrestrial biosphere, is a measure of imperfect data and understanding of the contemporary carbon cycle. All uncertainties are reported as ±1σ. For the last decade available (2007-2016), EFF was 9.4 ± 0.5 GtC yr-1, ELUC 1.3 ± 0.7 GtC yr-1, GATM 4.7 ± 0.1 GtC yr-1, SOCEAN 2.4 ± 0.5 GtC yr-1, and SLAND 3.0 ± 0.8 GtC yr-1, with a budget imbalance BIM of 0.6 GtC yr-1 indicating overestimated emissions and/or underestimated sinks. For year 2016 alone, the growth in EFF was approximately zero and emissions remained at 9.9 ± 0.5 GtC yr-1. Also for 2016, ELUC was 1.3 ± 0.7 GtC yr-1, GATM was 6.1 ± 0.2 GtC yr-1, SOCEAN was 2.6 ± 0.5 GtC yr-1, and SLAND was 2.7 ± 1.0 GtC yr-1, with a small BIM of -0.3 GtC. GATM continued to be higher in 2016 compared to the past decade (2007-2016), reflecting in part the high fossil emissions and the small SLAND

Green tea powder and Lactobacillus plantarum affect gut microbiota, lipid metabolism and inflammation in high-fat fed C57BL/6J mice

Directory of Open Access Journals (Sweden)

Axling Ulrika

2012-11-01

Full Text Available Abstract Background Type 2 diabetes is associated with obesity, ectopic lipid accumulation and low-grade inflammation. A dysfunctional gut microbiota has been suggested to participate in the pathogenesis of the disease. Green tea is rich in polyphenols and has previously been shown to exert beneficial metabolic effects. Lactobacillus plantarum has the ability to metabolize phenolic acids. The health promoting effect of whole green tea powder as a prebiotic compound has not been thoroughly investigated previously. Methods C57BL/6J mice were fed a high-fat diet with or without a supplement of 4% green tea powder (GT, and offered drinking water supplemented with Lactobacillus plantarum DSM 15313 (Lp or the combination of both (Lp + GT for 22 weeks. Parameters related to obesity, glucose tolerance, lipid metabolism, hepatic steatosis and inflammation were examined. Small intestinal tissue and caecal content were collected for bacterial analysis. Results Mice in the Lp + GT group had significantly more Lactobacillus and higher diversity of bacteria in the intestine compared to both mice in the control and the GT group. Green tea strongly reduced the body fat content and hepatic triacylglycerol and cholesterol accumulation. The reduction was negatively correlated to the amount of Akkermansia and/or the total amount of bacteria in the small intestine. Markers of inflammation were reduced in the Lp + GT group compared to control. PLS analysis of correlations between the microbiota and the metabolic variables of the individual mice showed that relatively few components of the microbiota had high impact on the correlation model. Conclusions Green tea powder in combination with a single strain of Lactobacillus plantarum was able to promote growth of Lactobacillus in the intestine and to attenuate high fat diet-induced inflammation. In addition, a component of the microbiota, Akkermansia, correlated negatively with several metabolic parameters

Cadherin-related family member 3, a childhood asthma susceptibility gene product, mediates rhinovirus C binding and replication.

Science.gov (United States)

Bochkov, Yury A; Watters, Kelly; Ashraf, Shamaila; Griggs, Theodor F; Devries, Mark K; Jackson, Daniel J; Palmenberg, Ann C; Gern, James E

2015-04-28

Members of rhinovirus C (RV-C) species are more likely to cause wheezing illnesses and asthma exacerbations compared with other rhinoviruses. The cellular receptor for these viruses was heretofore unknown. We report here that expression of human cadherin-related family member 3 (CDHR3) enables the cells normally unsusceptible to RV-C infection to support both virus binding and replication. A coding single nucleotide polymorphism (rs6967330, C529Y) was previously linked to greater cell-surface expression of CDHR3 protein, and an increased risk of wheezing illnesses and hospitalizations for childhood asthma. Compared with wild-type CDHR3, cells transfected with the CDHR3-Y529 variant had about 10-fold increases in RV-C binding and progeny yields. We developed a transduced HeLa cell line (HeLa-E8) stably expressing CDHR3-Y529 that supports RV-C propagation in vitro. Modeling of CDHR3 structure identified potential binding sites that could impact the virus surface in regions that are highly conserved among all RV-C types. Our findings identify that the asthma susceptibility gene product CDHR3 mediates RV-C entry into host cells, and suggest that rs6967330 mutation could be a risk factor for RV-C wheezing illnesses.

Putting Families in the Center: Family Perspectives on Decision Making and ADHD and Implications for ADHD Care

Science.gov (United States)

Davis, Catherine C.; Claudius, Milena; Palinkas, Lawrence A.; Wong, John B.; Leslie, Laurel K.

2012-01-01

Objective: To examine components of family-centered care in families' stories about treatment decision making for their child with ADHD. Method: Twenty-eight families participated in qualitative interviews that addressed families' perspectives on (a) the treatment decision-making process, (b) the cause and impact of their child's symptoms, and (c)…

Cloning, expression, and chromosome mapping of human galectin-7

DEFF Research Database (Denmark)

Madsen, Peder; Rasmussen, H H; Flint, T

1995-01-01

The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Here we report the cloning and expression of a novel member of this family (galectin-7) that correspond to IEF (isoelectric focusing) 17 (12,700 Da; pI, 7.6) in the human...... keratinocyte protein data base, and that is strikingly down-regulated in SV40 transformed keratinocytes (K14). The cDNA was cloned from a lambda gt11 cDNA expression library using degenerated oligodeoxyribonucleotides back-translated from an IEF 17 peptide sequence. The protein encoded by the galectin-7 clone......14 keratinocytes imply a role in cell-cell and/or cell-matrix interactions necessary for normal growth control. The galectin-7 gene was mapped to chromosome 19. Udgivelsesdato: 1995-Mar-17...

Comparison of cobas HCV GT against Versant HCV Genotype 2.0 (LiPA) with confirmation by Sanger sequencing.

Science.gov (United States)

Yusrina, Falah; Chua, Cui Wen; Lee, Chun Kiat; Chiu, Lily; Png, Tracy Si-Yu; Khoo, Mui Joo; Yan, Gabriel; Lee, Guan Huei; Yan, Benedict; Lee, Hong Kai

2018-05-01

Correct identification of infecting hepatitis C virus (HCV) genotype is helpful for targeted antiviral therapy. Here, we compared the HCV genotyping performance of the cobas HCV GT assay against the Versant HCV Genotype 2.0 (LiPA) assay, using 97 archived serum samples. In the event of discrepant or indeterminate results produced by either assay, the core and NS5B regions were sequenced. Of the 97 samples tested by the cobas, 25 (26%) were deemed indeterminate. Sequencing analyses confirmed 21 (84%) of the 25 samples as genotype 6 viruses with either subtype 6m, 6n, 6v, 6xa, or unknown subtype. Of the 97 samples tested by the LiPA, thirteen (13%) were deemed indeterminate. Seven (7%) were assigned with genotype 1, with unavailable/inconclusive results from the core region of the LiPA. Notably, the 7 samples were later found to be either genotype 3 or 6 by sequencing analyses. Moreover, 1 sample by the LiPA was assigned as genotypes 4 (cobas: indeterminate) but were later found to be genotype 3 by sequencing analyses, highlighting its limitation in assigning the correct genotype. The cobas showed similar or slightly higher accuracy (100%; 95% CI 94-100%) compared to the LiPA (99%; 95% CI 92-100%). Twenty-six percent of the 97 samples tested by the cobas had indeterminate results, mainly due to its limitation in identifying genotype 6 other than subtypes 6a and 6b. This presents a significant assay limitation in Southeast Asia, where genotype 6 infection is highly prevalent. Copyright © 2018 Elsevier B.V. All rights reserved.

Family Adjustment to Geographic Mobility: Military Families on the Move

Science.gov (United States)

1981-08-11

military are the related topics of father absence and transcultural experiences. MOBILITY AND ITS EFFECTS ON CHILDREN Children in military families...c-ild experi- ences added stress due to geographic mobility, transcultural experi- ences, transient father absences, and early retirement of the...family, and that short-term crisis therapy was the ideal psychotherapeutic modality for treatment of military children. CONCLUSION In summary, there are

Characterization of an Lrp/AsnC family regulator SCO3361, controlling actinorhodin production and morphological development in Streptomyces coelicolor.

Science.gov (United States)

Liu, Jing; Li, Jie; Dong, Hong; Chen, Yunfu; Wang, Yansheng; Wu, Hang; Li, Changrun; Weaver, David T; Zhang, Lixin; Zhang, Buchang

2017-07-01

Lrp/AsnC family regulators have been found in many bacteria as crucial regulators controlling diverse cellular processes. By genomic alignment, we found that SCO3361, an Lrp/AsnC family protein from Streptomyces coelicolor, shared the highest similarity to the SACE_Lrp from Saccharopolyspora erythraea. Deletion of SCO3361 led to dramatic reduction in actinorhodin (Act) production and delay in aerial mycelium formation and sporulation on solid media. Dissection of the mechanism underlying the function of SCO3361 in Act production revealed that it altered the transcription of the cluster-situated regulator gene actII-ORF4 by directly binding to its promoter. SCO3361 was an auto-regulator and simultaneously activated the transcription of its adjacent divergently transcribed gene SCO3362. SCO3361 affected aerial hyphae formation and sporulation of S. coelicolor by activating the expression of amfC, whiB, and ssgB. Phenylalanine and cysteine were identified as the effector molecules of SCO3361, with phenylalanine reducing the binding affinity, whereas cysteine increasing it. Moreover, interactional regulation between SCO3361 and SACE_Lrp was discovered for binding to each other's target gene promoter in this work. Our findings indicate that SCO3361 functions as a pleiotropic regulator controlling secondary metabolism and morphological development in S. coelicolor.

Altered Expression of Genes Implicated in Xylan Biosynthesis Affects Penetration Resistance against Powdery Mildew.

Science.gov (United States)

Chowdhury, Jamil; Lück, Stefanie; Rajaraman, Jeyaraman; Douchkov, Dimitar; Shirley, Neil J; Schwerdt, Julian G; Schweizer, Patrick; Fincher, Geoffrey B; Burton, Rachel A; Little, Alan

2017-01-01

Heteroxylan has recently been identified as an important component of papillae, which are formed during powdery mildew infection of barley leaves. Deposition of heteroxylan near the sites of attempted fungal penetration in the epidermal cell wall is believed to enhance the physical resistance to the fungal penetration peg and hence to improve pre-invasion resistance. Several glycosyltransferase (GT) families are implicated in the assembly of heteroxylan in the plant cell wall, and are likely to work together in a multi-enzyme complex. Members of key GT families reported to be involved in heteroxylan biosynthesis are up-regulated in the epidermal layer of barley leaves during powdery mildew infection. Modulation of their expression leads to altered susceptibility levels, suggesting that these genes are important for penetration resistance. The highest level of resistance was achieved when a GT43 gene was co-expressed with a GT47 candidate gene, both of which have been predicted to be involved in xylan backbone biosynthesis. Altering the expression level of several candidate heteroxylan synthesis genes can significantly alter disease susceptibility. This is predicted to occur through changes in the amount and structure of heteroxylan in barley papillae.

A novel lamin A/C mutation in a Dutch family with premature atherosclerosis.

Science.gov (United States)

Weterings, A A W; van Rijsingen, I A W; Plomp, A S; Zwinderman, A H; Lekanne Deprez, R H; Mannens, M M; van den Bergh Weerman, M A; van der Wal, A C; Pinto-Sietsma, S J

2013-07-01

We report a novel lamin A/C (LMNA) mutation, p.Glu223Lys, in a family with extensive atherosclerosis, diabetes mellitus and steatosis hepatis. Sequence analysis of LMNA (using Alamut version 2.2), co-segregation analysis, electron microscopy, extensive phenotypic evaluation of the mutation carriers and literature comparison were used to determine the loss of function of this mutation. The father of three siblings died at the age of 45 years. The three siblings and the brother and sister of the father were referred to the cardiovascular genetics department, because of the premature atherosclerosis and dysmorphic characteristics observed in the father at autopsy. The novel LMNA mutation, p.Glu223Lys, was identified in the proband and his two sons. Clinical evaluation revealed atherosclerosis, insulin resistance and hypertension in the proband and dyslipidemia and hepatic steatosis in all the patients with the mutation. Based on the facts that in silico analysis predicts a possibly pathogenic mutation, the mutation co-segregates with the disease, only fibroblasts from mutation carriers show nuclear blebbing and a similar phenotype was reported to be due to missense mutations in LMNA we conclude that we deal with a pathogenic mutation. We conclude that the phenotype is similar to Dunnigan-type familial partial lipodystrophy. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis

Directory of Open Access Journals (Sweden)

Binghui Zeng

2017-10-01

Full Text Available Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED and non-syndromic tooth agenesis (NSTA result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We screened for mutations of WNT10A, EDA, EDAR, EDARADD, PAX9, MSX1, AXIN2, LRP6, and WNT10B through Sanger sequencing. Whole exome sequencing was performed for the proband of NSTA Family 4. Novel mutation c.1051G>T (p.Val351Phe and the known mutation c.467G>A (p.Arg156His of Ectodysplasin A (EDA were identified in families with XLHED. Novel EDA receptor (EDAR mutation c.73C>T (p.Arg25*, known EDA mutation c.491A>C (p.Glu164Ala, and known Wnt family member 10A (WNT10A mutations c.511C>T (p.Arg171Cys and c.742C>T (p.Arg248* were identified in families with NSTA. The novel EDA and EDAR mutations were predicted as being pathogenic through bioinformatics analyses and structural modeling. Two variants of WNT10A, c.374G>A (p.Arg125Lys and c.125A>G (p.Asn42Ser, were found in patients with NSTA. The two WNT10A variants were predicted to affect the splicing of message RNA, but minigene experiments showed normal splicing of mutated minigenes. This study uncovered the genetic foundations with respect to six families with XLHED or NSTA. We identified six mutations, of which two were novel mutations of EDA and EDAR. This is the first report of a nonsense EDAR mutation leading to NSTA.

The cost of successful antiviral therapy in hepatitis C patients: a comparison of IFN-free versus IFN-based regimens at an individual patient level in Australia

Directory of Open Access Journals (Sweden)

Lee AS

2017-10-01

Full Text Available Allister Sebastian Lee,1 Mieke L van Driel,2 Darrell HG Crawford3,4 1Faculty of Medicine, 2Primary Care Clinical Unit, Faculty of Medicine, 3School of Clinical Medicine, Faculty of Medicine, University of Queensland, 4Gallipoli Medical Research Foundation, Greenslopes Private Hospital, Brisbane, Australia Background: Chronic hepatitis C remains a major global health burden with serious long-term consequences if left untreated. Recently the treatment standard of care has shifted to new interferon (IFN-free drug regimens, which have been shown to be safe and effective. The aim of our study was to assess and compare medical resource utilization and costs of successfully treating patients with IFN-based and IFN-free therapies in Australia. Methods: We performed a retrospective chart review of 30 HCV-infected patients successfully treated with IFN-based therapy between 2013 and 2015. We also generated a model for a virtual group of 100 genotype 1 (GT1 and 100 genotype 3 (GT3 patients treated with IFN-free therapy derived from national guidelines and clinical trial data. Results: In comparison to virtual patients receiving IFN-free therapy, our IFN-treated patients on average had distinctively more liver clinic visits and blood tests. However, mean total cost per patient was $19,164 and $85,300 (AUD more for GT1 and GT3 patients receiving IFN-free therapy, respectively. This difference was largely accounted for by higher antiviral drug costs. Of our 30 patients treated with IFN, total mean cost per patient during the study period was $33,595. Conclusion: Resource utilization is lower with IFN-free treatment, which reflects the reduced need for patient monitoring and improved side-effect profile of these new drugs. However, total costs are still largely dominated by antiviral drug costs, representing a huge burden on national budgets. Our insight into resource utilization and costs associated with both types of treatment can serve as a reference for

Advancing family psychology.

Science.gov (United States)

Fiese, Barbara H

2016-02-01

To realize the broad and complex nature of the field of family psychology, I have slightly revised the mission statement of the Journal of Family Psychology (JFP) to capture contemporary scholarship in family psychology and to advance systems perspectives in this top-tier scientific journal. Over the next 6 years, I hope that authors will consider JFP as an outlet for their best work in the following areas: (1) JFP addresses societal challenges faced by families today; (2) JFP publishes important studies on what makes couple and family relationships work; (3) JFP is a leader in publishing reports that use cutting-edge sophisticated approaches to research design and data analysis; and (4) JFP imparts knowledge about effective therapy and prevention programs relevant to couples and families. The journal is also expanding its publication rate to eight issues per year. (c) 2016 APA, all rights reserved).

Human mast cell tryptase: Multiple cDNAs and genes reveal a multigene serine protease family

International Nuclear Information System (INIS)

Vanderslice, P.; Ballinger, S.M.; Tam, E.K.; Goldstein, S.M.; Craik, C.S.; Caughey, G.H.

1990-01-01

Three different cDNAs and a gene encoding human skin mast cell tryptase have been cloned and sequenced in their entirety. The deduced amino acid sequences reveal a 30-amino acid prepropeptide followed by a 245-amino acid catalytic domain. The C-terminal undecapeptide of the human preprosequence is identical in dog tryptase and appears to be part of a prosequence unique among serine proteases. The differences among the three human tryptase catalytic domains include the loss of a consensus N-glycosylation site in one cDNA, which may explain some of the heterogeneity in size and susceptibility to deglycosylation seen in tryptase preparations. All three tryptase cDNAs are distinct from a recently reported cDNA obtained from a human lung mast cell library. A skin tryptase cDNA was used to isolate a human tryptase gene, the exons of which match one of the skin-derived cDNAs. The organization of the ∼1.8-kilobase-pair tryptase gene is unique and is not closely related to that of any other mast cell or leukocyte serine protease. The 5' regulatory regions of the gene share features with those of other serine proteases, including mast cell chymase, but are unusual in being separated from the protein-coding sequence by an intron. High-stringency hybridization of a human genomic DNA blot with a fragment of the tryptase gene confirms the presence of multiple tryptase genes. These findings provide genetic evidence that human mast cell tryptases are the products of a multigene family

Familial hypercholesterolaemia in children and adolescents

DEFF Research Database (Denmark)

Wiegman, Albert; Gidding, Samuel S; Watts, Gerald F

2015-01-01

. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle......Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness...... of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis...

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.

Science.gov (United States)

Thonberg, Håkan; Chiang, Huei-Hsin; Lilius, Lena; Forsell, Charlotte; Lindström, Anna-Karin; Johansson, Charlotte; Björkström, Jenny; Thordardottir, Steinunn; Sleegers, Kristel; Van Broeckhoven, Christine; Rönnbäck, Annica; Graff, Caroline

2017-06-09

Alzheimer disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. The majority of AD cases are sporadic, while up to 5% are families with an early onset AD (EOAD). Mutations in one of the three genes: amyloid beta precursor protein (APP), presenilin 1 (PSEN1) or presenilin 2 (PSEN2) can be disease causing. However, most EOAD families do not carry mutations in any of these three genes, and candidate genes, such as the sortilin-related receptor 1 (SORL1), have been suggested to be potentially causative. To identify AD causative variants, we performed whole-exome sequencing on five individuals from a family with EOAD and a missense variant, p.Arg1303Cys (c.3907C > T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family. In a targeted re-sequencing effort on independent index patients from 35 EOAD-families, a second SORL1 variant, c.3050-2A > G, was found which segregated with the disease in 3 affected and was absent in one unaffected family member. The c.3050-2A > G variant is located two nucleotides upstream of exon 22 and was shown to cause exon 22 skipping, resulting in a deletion of amino acids Gly1017- Glu1074 of SORL1. Furthermore, a third SORL1 variant, c.5195G > C, recently identified in a Swedish case control cohort included in the European Early-Onset Dementia (EU EOD) consortium study, was detected in two affected siblings in a third family with familial EOAD. The finding of three SORL1-variants that segregate with disease in three separate families with EOAD supports the involvement of SORL1 in AD pathology. The cause of these rare monogenic forms of EOAD has proven difficult to find and the use of exome and genome sequencing may be a successful route to target them.

All in the family: Work-family enrichment and crossover among farm couples.

Science.gov (United States)

Sprung, Justin M; Jex, Steve M

2017-04-01

This study expands upon the contextualization of the work-family interface by examining positive work-family experiences within the farming industry. Both individual and crossover effects were examined among a sample of 217 married farm couples. Results demonstrated multiple significant relationships between self-reported attitudes, work-family enrichment, and health outcomes. In addition, crossover effects reveal the importance of individual attitudes (husband work engagement and wife farm satisfaction) for spousal work-family enrichment and health outcomes. Furthermore, individual work-family enrichment was positively related to spousal psychological health and negatively related to spousal physical symptoms. Many of these findings remained significant after controlling for work-family conflict. Overall, our results suggest the potential beneficial impact of the integrated work-family dynamic associated with the farming profession for positive work-family experiences. Implications of these findings, as well as directions for future research, are discussed. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Adolescent culture brokering and family functioning: a study of families from Vietnam.

Science.gov (United States)

Trickett, Edison J; Jones, Curtis J

2007-04-01

In immigrant families, culture brokering (CB) refers to the ways in which children and adolescents serve as mediator between their family and aspects of the new culture. This study focused on the debate in the literature about whether CB implies "role reversal" in the family and "adultification" of the adolescent or whether CB is better understood as simply one of the many ways that immigrant children contribute to family functioning. Results indicated a mixed picture with respect to this debate. Greater amounts of adolescent CB were indeed related to higher adolescent reports of family conflict, but also to greater family adaptability. In addition, the amount of CB was unrelated to family satisfaction and family cohesion. Secondary questions centered on the relationship of CB to adolescent and parent demographic and acculturation variables. Here, CB was related to parent acculturation patterns but not those of adolescents. Implications for future research on the CB role are discussed. (c) 2007 APA, all rights reserved.

Expression of transgenes targeted to the Gt(ROSA26Sor locus is orientation dependent.

Directory of Open Access Journals (Sweden)

Douglas Strathdee

2006-12-01

Full Text Available Targeting transgenes to a chosen location in the genome has a number of advantages. A single copy of the DNA construct can be inserted by targeting into regions of chromatin that allow the desired developmental and tissue-specific expression of the transgene.In order to develop a reliable system for reproducibly expressing transgenes it was decided to insert constructs at the Gt(ROSA26Sor locus. A cytomegalovirus (CMV promoter was used to drive expression of the Tetracycline (tet transcriptional activator, rtTA2(s-M2, and test the effectiveness of using the ROSA26 locus to allow transgene expression. The tet operator construct was inserted into one allele of ROSA26 and a tet responder construct controlling expression of EGFP was inserted into the other allele.Expression of the targeted transgenes was shown to be affected by both the presence of selectable marker cassettes and by the orientation of the transgenes with respect to the endogenous ROSA26 promoter. These results suggest that transcriptional interference from the endogenous gene promoter or from promoters in the selectable marker cassettes may be affecting transgene expression at the locus. Additionally we have been able to determine the optimal orientation for transgene expression at the ROSA26 locus.

Chinese Families of Children with Severe Disabilities: Family Needs and Available Support

Science.gov (United States)

Wang, Peishi; Michaels, Craig A.

2009-01-01

This descriptive study gathered quantitative and qualitative data about 368 families in the People's Republic of China who had children with severe disabilities to better understand (a) the perceived needs that families have, (b) the supports available to them, (c) any differences in perceived needs and support between mothers and fathers, and (d)…

Effect of temperature on the concentration of plasma gonadotropine and spermatogenesis of the goldfish Carassius auratus

Energy Technology Data Exchange (ETDEWEB)

Gillet, C.; Billard, R.; Breton, B.

1977-01-01

Concentrations of immunoreactive plasma gonadotropin (c-GtH) were measured for goldfish kept at conditions of temperature held constant or increasing between 10 and 30/sup 0/C, between February and July. At temperatures of 17/sup 0/C or above the levels of plasma c-GtH were significantly (P < 0.005) higher during April and May than at 10/sup 0/C. In April the pituitary concentration of c-GtH was maximum for fish held at 17/sup 0/C or above and the minimum for fish held below 17/sup 0/C, but in June the situation was reversed. A study of the gonads showed that spermatogenesis is faster at 17--24/sup 0/C than at 10/sup 0/C, but at 30/sup 0/C spermatogenic activity was inhibited.

‘Sometimes They Are Fun and Sometimes They Are Not’: Concept Mapping with English Language Acquisition (ELA and Gifted/Talented (GT Elementary Students Learning Science and Sustainability

Directory of Open Access Journals (Sweden)

Katrina Marzetta

2018-01-01

Full Text Available This study presents an ‘education for sustainability’ curricular model which promotes science learning in an elementary classroom through equity pedagogy. A total of 25 fourth-grade students from an urban, public school in Denver, Colorado participated in this mixed-methods study where concept maps were used as a tool for describing and assessing students’ understanding of ecosystem interactions. Concept maps provide a more holistic, systems-based assessment of science learning in a sustainability curriculum. The concept maps were scored and analyzed using SPSS to investigate potential differences in learning gains of English Language Acquisition (ELA and Gifted/Talented (GT students. Interviews were conducted after the concept maps were administered, then transcribed and inductively coded to generate themes related to science learning. Interviews also encouraged students to explain their drawings and provided a more accurate interpretation of the concept maps. Findings revealed the difference between pre- and post-concept map scores for ELA and GT learners were not statistically significant. Students also demonstrated an increased knowledge of ecosystem interactions during interviews. Concept maps, as part of an education for sustainability curriculum, can promote equity by providing diverse learners with different—yet equally valid—outlets to express their scientific knowledge.

Hymenobacter seoulensis sp. nov., isolated from river water.

Science.gov (United States)

Lee, Jae-Jin; Lee, Yeon-Hee; Park, Su-Jin; Lee, Seung-Yeol; Park, Sangkyu; Kim, Myung Kyum; Ten, Leonid N; Jung, Hee-Young

2017-04-01

A Gram-stain-negative, aerobic, rod-shaped, non-motile and pink-pigmented bacterial strain, designated 16F7GT, was isolated from river water. Phylogenetic analysis based on 16S rRNA gene sequences indicated that strain 16F7GT belongs to the genus Hymenobacter. The 16S rRNA gene sequence similarity to members of the genus Hymenobacter ranged from 90.5 to 97.4 %, and the most closely related strains were Hymenobacter rigui WPCB131T (97.4 %) and Hymenobacter xinjiangensis X2-1gT (97.3 %). Strain 16F7GT had <70 % DNA-DNA relatedness with H. rigui (32.8±7.8 %) and H. xinjiangensis (30.2±6.2 %), indicating that it represents a novel genospecies. Cells were catalase- and oxidase-positive. The genomic DNA G+C content was 56.6 mol%. The major fatty acids were summed feature 4 (C17 : 1iso I/C17 : 1 anteiso B; 19.8 %), summed feature 3 (C16 : 1ω7c/C16 : 1ω6c; 18.4 %), C15 : 0 iso (17.0 %), C16 : 1ω5c (11.8 %) and C15 : 0 anteiso (9.8 %). The major polar lipid was phosphatidylethanolamine and the predominant respiratory quinone was menaquinone 7 (MK-7). Based on the phylogenetic, phenotypic, genotypic and chemotaxonomic analyses, it is concluded that strain 16F7GT represents a novel species within the genus Hymenobacter, for which the name Hymenobacter seoulensis sp. nov. is proposed. The type strain is 16F7GT (=KCTC 52197T=JCM 31655T).

Study on Off-Design Steady State Performances of Helium Gas Turbo-compressor for HTGR-GT

International Nuclear Information System (INIS)

Qisen Ren; Xiaoyong Yang; Zhiyong Huang; Jie Wang

2006-01-01

The high temperature gas-cooled reactor (HTGR) coupled with direct gas turbine cycle is a promising concept in the future of nuclear power development. Both helium gas turbine and compressor are key components in the cycle. Under normal conditions, the mode of power adjustment is to control total helium mass in the primary loop using gas storage vessels. Meanwhile, thermal power of reactor core is regulated. This article analyzes off-design performances of helium gas turbine and compressors for high temperature gas-cooled reactor with gas turbine cycle (HTGR-GT) at steady state level of electric power adjustment. Moreover, performances of the cycle were simply discussed. Results show that the expansion ratio of turbine decreases as electric power reduces but the compression ratios of compressors increase, efficiencies of both turbine and compressors decrease to some extent. Thermal power does not vary consistently with electric power, the difference between these two powers increases as electric power reduces. As a result of much thermal energy dissipated in the temperature modulator set at core inlet, thermal efficiency of the cycle has a widely reduction under partial load conditions. (authors)

Homozygous familial hypercholesterolaemia

DEFF Research Database (Denmark)

Cuchel, Marina; Bruckert, Eric; Ginsberg, Henry N

2014-01-01

AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the......AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights...... into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance...... 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and...

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Science.gov (United States)

Smyth, Natalie; Ramsay, Michèle; Raal, Frederick J

2018-04-01

To describe the prevalence and population-specific genetic heterogeneity of familial hypercholesterolemia in South Africa. This review highlights the paucity of data on familial hypercholesterolemia in South Africa, and the urgent need to uncover the mutation profiles in lipid-associated genes, causing an increase in LDL-cholesterol in the different ethnic groups. Case reports and small studies have shown that familial hypercholesterolemia, although apparently uncommon, is present in black Africans. Local founder effects have led to an increased prevalence of familial hypercholesterolemia in several South African populations: Afrikaner founder mutations (c.681 C>G, c.1285 G>A, c.523 G>A), Ashkenazi founder mutation (c.654_656del) and possible Indian founder mutation (c.2054 C>T). Preliminary data in black Africans with elevated LDL-cholesterol identified a possible common mutation, c.137_142del. The South African multiethnic society and well described founder effects emphasize the need for differential approaches to diagnosis and management of familial hypercholesterolemia. Studies involving larger cohorts and inclusive of different ethnicities are paramount to establishing an accurate prevalence of familial hypercholesterolemia in black Africans, not only in South Africa but in the Sub-Saharan African region. It is clear that the estimated world prevalence of one in 250 cannot be generally applied across African populations.

The Mycobacterium leprae antigen 85 complex gene family: identification of the genes for the 85A, 85C, and related MPT51 proteins

NARCIS (Netherlands)

Rinke de Wit, T. F.; Bekelie, S.; Osland, A.; Wieles, B.; Janson, A. A.; Thole, J. E.

1993-01-01

The genes for two novel members (designated 85A and 85C) of the Mycobacterium leprae antigen 85 complex family of proteins and the gene for the closely related M. leprae MPT51 protein were isolated. The complete DNA sequence of the M. leprae 85C gene and partial sequences of the 85A and MPT51 genes

Work-supportive family, family-supportive supervision, use of organizational benefits, and problem-focused coping: implications for work-family conflict and employee well-being.

Science.gov (United States)

Lapierre, Laurent M; Allen, Tammy D

2006-04-01

Employees (n = 230) from multiple organizations and industries were involved in a study assessing how work-family conflict avoidance methods stemming from the family domain (emotional sustenance and instrumental assistance from the family), the work domain (family-supportive supervision, use of telework and flextime), and the individual (use of problem-focused coping) independently relate to different dimensions of work-family conflict and to employees' affective and physical well-being. Results suggest that support from one's family and one's supervisor and the use of problem-focused coping seem most promising in terms of avoiding work-family conflict and/or decreased well-being. Benefits associated with the use of flextime, however, are relatively less evident, and using telework may potentially increase the extent to which family time demands interfere with work responsibilities. (c) 2006 APA, all rights reserved.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Science.gov (United States)

Bi, Hongyan; Gao, Yunying; Yao, Sheng; Dong, Mingrui; Headley, Alexander Peter; Yuan, Yun

2007-10-01

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long chain base subunit 1 (SPTLC1). Sequencing in HSAN I families have previously identified mutations in exons 5, 6 and 13 of this gene. Here we report the clinical, electrophysiological and pathological findings of a proband in a Chinese family with HSAN I. The affected members showed almost typical clinical features. Electrophysiological findings showed an axonal, predominantly sensory, neuropathy with motor and autonomic involvement. Sural nerve biopsy showed loss of myelinated and unmyelinated fibers. SPTLC1 mutational analysis revealed the C133W mutation, a mutation common in British HSAN I families.

Distinct roles of the RasGAP family proteins in C. elegans associative learning and memory.

Science.gov (United States)

Gyurkó, M Dávid; Csermely, Péter; Sőti, Csaba; Steták, Attila

2015-10-15

The Ras GTPase activating proteins (RasGAPs) are regulators of the conserved Ras/MAPK pathway. Various roles of some of the RasGAPs in learning and memory have been reported in different model systems, yet, there is no comprehensive study to characterize all gap genes in any organism. Here, using reverse genetics and neurobehavioural tests, we studied the role of all known genes of the rasgap family in C. elegans in associative learning and memory. We demonstrated that their proteins are implicated in different parts of the learning and memory processes. We show that gap-1 contribute redundantly with gap-3 to the chemosensation of volatile compounds, gap-1 plays a major role in associative learning, while gap-2 and gap-3 are predominantly required for short- and long-term associative memory. Our results also suggest that the C. elegans Ras orthologue let-60 is involved in multiple processes during learning and memory. Thus, we show that the different classes of RasGAP proteins are all involved in cognitive function and their complex interplay ensures the proper formation and storage of novel information in C. elegans.

[Family dynamics and chronic illness: children with diabetes in the context of their families].

Science.gov (United States)

Wirlach-Bartosik, S; Schubert, M T; Freilinger, M; Schober, E

2005-01-01

The present study is based on the assumption of an interaction between family functioning and chronic illness. Using a systemic approach, the intra-familial situation of families with a diabetes-affected child is examined. 44 families were evaluated using a family diagnostic instrument ("Familienbögen") and compared with 31 control families with a healthy child. Furthermore, the study looked at the influence of the level of family functioning on glycemic control, as measured by HbA1c values, and vice versa. Families with a child affected by diabetes showed significantly more dysfunctional domains and higher discrepancies of the ratings in the family diagnostic instrument (p familial dynamics, it may, at the same time, offer opportunities for an improvement of family relationships. However, if physiological parameters deteriorate in the child (poor glycemic control), family problems seem to become less important. Success in the treatment of diabetes patients should therefore not only be measured by the quality of glycemic control, but also by considering psychological factors and aspects of family dynamics.

Parental stress, family quality of life, and family-teacher partnerships: Families of children with autism spectrum disorder.

Science.gov (United States)

Hsiao, Yun-Ju; Higgins, Kyle; Pierce, Tom; Whitby, Peggy J Schaefer; Tandy, Richard D

2017-11-01

Reducing parental stress and improving family quality of Life (FQOL) are continuing concerns for families of children with autism spectrum disorder (ASD). Family-teacher partnerships have been identified as a positive factor to help parents reduce their stress and improve their FQOL. However, the interrelations among parental stress, FQOL, and family-teacher partnerships need to be further examined so as to identify the possible paths to help parents reduce their stress and improve their FQOL. The purpose of this study was to examine the interrelations among these three variables. A total of 236 parents of school children with ASD completed questionnaires, which included three measures: (a) the Beach Center Family Quality of Life Scale, (b) the Parental Stress Scale, and (c) the Beach Center Family-Professional Partnerships Scale. The structural equation modeling was used to analyze the interrelations among these three variables. Perceived parental stress had a direct effect on parental satisfaction concerning FQOL and vice versa. Perceived family-teacher partnerships had a direct effect on FQOL, but did not have a direct effect on parental stress. However, family-teacher partnerships had an indirect effect on parental stress through FQOL. Reducing parental stress could improve FQOL for families of children with ASD and vice versa. Strong family-teacher partnerships could help parents of children with ASD improve their FQOL and indirectly reduce their stress. Copyright © 2017 Elsevier Ltd. All rights reserved.

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

International Nuclear Information System (INIS)

Wang Qiuju; Li Qingzhong; Han Dongyi; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen; Guan Minxin

2006-01-01

We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

Family-focused interventions and resources for veterans and their families.

Science.gov (United States)

Sherman, Michelle D; Larsen, Jessica L

2018-05-01

Accelerated by the decreasing military presence in Iraq and Afghanistan, many military members are currently transitioning out of active duty into civilian life. Many of these new veterans have recently experienced combat deployment(s), and some are struggling with the aftermath of combat exposure, separation from family, and reintegration stressors. These challenges often follow these military families as they enter the civilian world, a time with its own major life changes vocationally, socially, and interpersonally. Although numerous resources have been developed to assist service members during their transition to the civilian world, relatively fewer exist for partners, children, and broader family systems. Family psychoeducation is a nonpathologizing, strengths-focused model of care that has documented benefits in the arena of mental illness. This article describes some manualized family psychoeducational programs and online and phone-based resources that may be useful to veteran families during this time of change. The programs and resources described herein are all available for free, primarily online. Because of a wide variety of barriers and limitations for family based care in the Veterans Affairs health care system, veteran families are and will continue to seek mental health care in public sector settings. Community providers can enhance their military culture competence by familiarizing themselves with these resources and drawing upon them in working with transitioning military families. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Emergency Preparedness: A Handbook for Families.

Science.gov (United States)

1982-06-01

Advancement of Science, 1966. FAMILY HANDYMAN MAGAZINE. America’s Handyman Book. New York: Charles Scribner’s Sons, 1980. FARACE , Richard V., Kenneth...1972. FARACE , Richard V. Communication Strategies for Crisis Relocation Planning. Washington, D.C.: Defense Civil Preparedness Agency, November 1975... FARACE , Richard V., Kenneth L. Villard, and L. Edna Rogers. Family Communication About Plans for Natural and Nuclear Disasters. Washington, D.C

The D299G/T399I Toll-like receptor 4 variant associates with body and liver fat: results from the TULIP and METSIM Studies.

Directory of Open Access Journals (Sweden)

Peter Weyrich

Full Text Available BACKGROUND: Toll-like-receptor 4 (TLR is discussed to provide a molecular link between obesity, inflammation and insulin resistance. Genetic studies with replications in non-diabetic individuals in regard to their fat distribution or insulin resistance according to their carrier status of a common toll-like receptor 4 (TLR4 variant (TLR4(D299G/T399I are still lacking. METHODOLOGY/PRINCIPAL FINDINGS: We performed a cross-sectional analysis in individuals phenotyped for prediabetic traits as body fat composition (including magnetic resonance imaging, blood glucose levels and insulin resistance (oral glucose tolerance testing, euglycemic hyperinsulinemic clamp, according to TLR4 genotype determined by candidate SNP analyses (rs4986790. We analyzed N = 1482 non-diabetic individuals from the TÜF/TULIP cohort (South Germany, aged 39±13 y, BMI 28.5±7.9, mean±SD and N = 5327 non-diabetic participants of the METSIM study (Finland, males aged 58±6 y, BMI 26.8±3.8 for replication purposes. German TLR4(D299G/T399I carriers had a significantly increased body fat (XG in rs4986790: +6.98%, p = 0.03, dominant model, adjusted for age, gender and decreased insulin sensitivity (XG: -15.3%, Matsuda model, p = 0.04; XG: -20.6%, p = 0.016, clamp; both dominant models adjusted for age, gender, body fat. In addition, both liver fat (AG: +49.7%; p = 0.002 and visceral adipose tissue (AG: +8.2%; p = 0.047, both adjusted for age, gender, body fat were significantly increased in rs4986790 minor allele carriers, and the effect on liver fat remained significant also after additional adjustment for visceral fat (p = 0.014. The analysis in METSIM confirmed increased body fat content in association with the rare G allele in rs4986790 (AG: +1.26%, GG: +11.0%; p = 0.010, additive model, adjusted for age and showed a non-significant trend towards decreased insulin sensitivity (AG: -0.99%, GG: -10.62%. CONCLUSIONS/SIGNIFICANCE: TLR4(D299G/T

PARÁMETROS BIOQUÍMICOS ENZIMÁTICOS (ALT, AST, ALP, Γ-GT, LDH EN NIÑOS CON LEUCEMIA LINFOBLÁSTICA AGUDA ANTES DEL TRATAMIENTO ANTINEOPLÁSICO

Directory of Open Access Journals (Sweden)

Jeél Moya S

2015-12-01

Full Text Available Objective: To determine the enzymatic biochemical parameters (glutamic pyruvic transaminase (ALT, glutamic oxaloacetic transaminase (AST, alkaline phosphatase (ALP, gamma glutamyltransferase (γ-GT, and lactate dehydrogenase (LDH in children with acute lymphoblastic leukemia (ALL before cancer treatment. Material and Methods: A prospective experimental, observational, cross-sectional study was conducted in 30 children between 2 and 15 years old, from several Neoplastic Centers in Lima. Blood collection was performed in BD red cap Vacutainer tubes, processed in the semi-automated analyzer BIOTEC® EMP-168, with Wiener Lab Group enzyme reagents under the modified method Szaaz and UV-Optimized by IFCC, SSCC and SFBC. Finally, coding and tabulation was performed. Results: 60% were boys and 46.7% are between the ages of 2-6 years. Serum levels of AST were increased by 33.3% in boys and 50% in girls. Serum ALT values were increased in 33.3% of boys and 41.7% of girls; only 25% of girls showed increased levels of γ-GT values; ALP was increased in 44.4% of boys and 66.7% of girls. Moreover LDH levels were increased in 55.6% of boys and 41.7% of girls. Conclusions: The enzymatic tests LDH, AST, ALT and ALP are increased in children with ALL compared to normal values due to tumor lysis syndrome characterized by electrolyte abnormalities, and as a result of the massive destruction of tumor cells and rapid release of large amounts of intracellular elements.

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

DEFF Research Database (Denmark)

Risom, Lotte; Christoffersen, Line Borck; Daugaard-Jensen, Jette

2013-01-01

Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients...... undergone surgical and/or orthodontic interventions, and identified novel PTH1R mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C>A and c.1082G>A), or by altering correct mRNA splicing (c.544......-26_544-23del and c.989G>T). The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in PTH1R are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all...

Emerging role of N- and C-terminal interactions in stabilizing (β/α8 fold with special emphasis on Family 10 xylanases

Directory of Open Access Journals (Sweden)

Amit Bhardwaj

2012-09-01

Full Text Available Xylanases belong to an important class of industrial enzymes. Various xylanases have been purified and characterized from a plethora of organisms including bacteria, marine algae, plants, protozoans, insects, snails and crustaceans. Depending on the source, the enzymatic activity of xylanases varies considerably under various physico-chemical conditions such as temperature, pH, high salt and in the presence of proteases. Family 10 or glycosyl hydrolase 10 (GH10 xylanases are one of the well characterized and thoroughly studied classes of industrial enzymes. The TIM-barrel fold structure which is ubiquitous in nature is one of the characteristics of family 10 xylanases. Family 10 xylanases have been used as a “model system” due to their TIM-barrel fold to dissect and understand protein stability under various conditions. A better understanding of structure-stability-function relationships of family 10 xylanases allows one to apply these governing molecular rules to engineer other TIM-barrel fold proteins to improve their stability and retain function(s under adverse conditions. In this review, we discuss the implications of N-and C-terminal interactions, observed in family 10 xylanases on protein stability under extreme conditions. The role of metal binding and aromatic clusters in protein stability is also discussed. Studying and understanding family 10 xylanase structure and function, can contribute to our protein engineering knowledge.

EMERGING ROLE OF N- AND C-TERMINAL INTERACTIONS IN STABILIZING (β;/α8 FOLD WITH SPECIAL EMPHASIS ON FAMILY 10 XYLANASES

Directory of Open Access Journals (Sweden)

Amit Bhardwaj

2012-09-01

Full Text Available Xylanases belong to an important class of industrial enzymes. Various xylanases have been purified and characterized from a plethora of organisms including bacteria, marine algae, plants, protozoans, insects, snails and crustaceans. Depending on the source, the enzymatic activity of xylanases varies considerably under various physico-chemical conditions such as temperature, pH, high salt and in the presence of proteases. Family 10 or glycosyl hydrolase 10 (GH10 xylanases are one of the well characterized and thoroughly studied classes of industrial enzymes. The TIM-barrel fold structure which is ubiquitous in nature is one of the characteristics of family 10 xylanases. Family 10 xylanases have been used as a “model system” due to their TIM-barrel fold to dissect and understand protein stability under various conditions. A better understanding of structure-stability-function relationships of family 10 xylanases allows one to apply these governing molecular rules to engineer other TIM-barrel fold proteins to improve their stability and retain function(s under adverse conditions. In this review, we discuss the implications of N-and C-terminal interactions, observed in family 10 xylanases on protein stability under extreme conditions. The role of metal binding and aromatic clusters in protein stability is also discussed. Studying and understanding family 10 xylanase structure and function, can contribute to our protein engineering knowledge.

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

Science.gov (United States)

Liu, Hong Yan; Huang, Jia; Wang, Rui Li; Wang, Yue; Guo, Liang Jie; Li, Tao; Wu, Dong; Wang, Hong Dan; Guo, Qian Nan; Dong, Dao Quan

2016-11-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP) in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon-intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C) in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln), was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11) were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR. Copyright © 2016. Published by Elsevier Taiwan LLC.

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy

Directory of Open Access Journals (Sweden)

Hong Yan Liu

2016-11-01

Full Text Available Familial exudative vitreoretinopathy (FEVR is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon–intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln, was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11 were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR.

Role and structural characterization of plant aldehyde dehydrogenases from family 2 and family 7.

Science.gov (United States)

Končitíková, Radka; Vigouroux, Armelle; Kopečná, Martina; Andree, Tomáš; Bartoš, Jan; Šebela, Marek; Moréra, Solange; Kopečný, David

2015-05-15

Aldehyde dehydrogenases (ALDHs) are responsible for oxidation of biogenic aldehyde intermediates as well as for cell detoxification of aldehydes generated during lipid peroxidation. So far, 13 ALDH families have been described in plants. In the present study, we provide a detailed biochemical characterization of plant ALDH2 and ALDH7 families by analysing maize and pea ALDH7 (ZmALDH7 and PsALDH7) and four maize cytosolic ALDH(cALDH)2 isoforms RF2C, RF2D, RF2E and RF2F [the first maize ALDH2 was discovered as a fertility restorer (RF2A)]. We report the crystal structures of ZmALDH7, RF2C and RF2F at high resolution. The ZmALDH7 structure shows that the three conserved residues Glu(120), Arg(300) and Thr(302) in the ALDH7 family are located in the substrate-binding site and are specific to this family. Our kinetic analysis demonstrates that α-aminoadipic semialdehyde, a lysine catabolism intermediate, is the preferred substrate for plant ALDH7. In contrast, aromatic aldehydes including benzaldehyde, anisaldehyde, cinnamaldehyde, coniferaldehyde and sinapaldehyde are the best substrates for cALDH2. In line with these results, the crystal structures of RF2C and RF2F reveal that their substrate-binding sites are similar and are formed by an aromatic cluster mainly composed of phenylalanine residues and several nonpolar residues. Gene expression studies indicate that the RF2C gene, which is strongly expressed in all organs, appears essential, suggesting that the crucial role of the enzyme would certainly be linked to the cell wall formation using aldehydes from phenylpropanoid pathway as substrates. Finally, plant ALDH7 may significantly contribute to osmoprotection because it oxidizes several aminoaldehydes leading to products known as osmolytes.

Brief Report: CYP2B6 516G>T Minor Allele Protective of Late Virologic Failure in Efavirenz-Treated HIV-Infected Patients in Botswana.

Science.gov (United States)

Vujkovic, Marijana; Bellamy, Scarlett L; Zuppa, Athena F; Gastonguay, Marc; Moorthy, Ganesh S; Ratshaa, Bakgaki R; Han, Xiaoyan; Steenhoff, Andrew P; Mosepele, Mosepele; Strom, Brian L; Aplenc, Richard; Bisson, Gregory P; Gross, Robert

2017-08-01

CYP2B6 polymorphisms that affect efavirenz (EFV) concentrations are common, but the effect of this polymorphism on HIV virologic failure in clinical practice settings has not fully been elucidated. Our objective was to investigate the relationship between the CYP2B6 516G>T genotype and late virologic failure in patients treated with EFV in Gaborone, Botswana. We performed a case-control study that included 1338 HIV-infected black Batswana on EFV-based antiretroviral therapy (ART). Patients were approached for enrollment during regular visits at one of the outpatient HIV clinics between July 2013 and April 2014. Cases experienced late HIV failure, defined as plasma HIV RNA >1000 copies/mL after maintaining viral suppression (ART for at least 6 months. Logistic regression was used to determine the adjusted odds of late HIV failure by 516G>T genotype. After adjustment for the confounding variables age and CD4 count, the CYP2B6 516 T-allele was protective against late HIV virologic breakthrough, adjusted OR 0.70; 95% CI: 0.50 to 0.97. The CYP2B6 516 T-allele was protective against late virologic breakthrough in patients with initial (6 month) HIV RNA suppression on EFV-based ART. Future studies are needed to assess long-term viral benefits of identifying and offering EFV containing ART to black African HIV-infected patients with CYP2B6 T-alleles, especially given the wider availability of a single pill EFV in this setting.

Characterization of cDNAs encoding human pyruvate dehydrogenase α subunit

International Nuclear Information System (INIS)

Ho, Lap; Wexler, I.D.; Liu, Techung; Thekkumkara, T.J.; Patel, M.S.

1989-01-01

A cDNA clone (1,423 base pairs) comprising the entire coding region of the precursor form of the α subunit of pyruvate dehydrogenase (E 1 α) has been isolated from a human liver cDNA library in phage λgt11. The first 29 amino acids deduced from the open reading frame correspond to a typical mitochondrial targeting leader sequence. The remaining 361 amino acids, starting at the N terminus with phenylalanine, represent the mature mitochondrial E 1 α peptide. The cDNA has 43 base pairs in the 5' untranslated region and 210 base pairs in the 3' untranslated region, including a polyadenylylation signal and a short poly(A) tract. The nucleotide sequence of human liver E 1 α cDNA was confirmed by the nucleotide sequences of three overlapping fragments generated from human liver and fibroblast RNA by reverse transcription and DNA amplification by the polymerase chain reaction. This consensus nucleotide sequence of human liver E 1 α cDNA resolves existing discrepancies among three previously reported human E 1 α cDNAs and provides the unambiguous reference sequence needed for the characterization of genetic mutations in pyruvate dehydrogenase-deficient patients

Temporal profile of estrogen-dependent gene expression in LHRH-producing GT1-7 cells.

Science.gov (United States)

Varju, Patricia; Chang, Ken C; Hrabovszky, Erik; Merchenthaler, István; Liposits, Zsolt

2009-02-01

The long-term cellular effects of estrogens are mediated by nuclear estrogen receptors which act as transcription factors to regulate gene expression. Hypothalamic targets of estrogen action include luteinizing hormone-releasing hormone-secreting neurons controlling reproduction in vertebrates. Microarray analysis and qRT-PCR studies were performed on GT1-7, immortalized LHRH neurons after 17beta-estradiol treatment to reveal the nature of estrogen-regulated genes and the time course of changes in their expression profile. More than 1000 transcripts showed robust responses to estrogen treatment and the majority of responding genes were up-regulated. Early-responding genes showed altered expression 0.5-2h after estrogen exposure, whereas late-responding genes changed after 24-48h treatment. Up-regulated genes encoded transcription factors, molecules involved in cellular movement, cell death, immune response, neurotransmitter and neuropeptide receptors, ion channels and transporters. The 17beta-estradiol modulation of 12 genes - representing characteristic gene clusters - has been confirmed by qRT-PCR. Our studies highlighted diverse gene networks, cell regulatory mechanisms and metabolic pathways through which estrogen may alter gene expression in immortalized LHRH neurons. The findings also support the notion that genomic effects of estrogen targeting in vivo directly the LHRH neuronal network of mammals play an important role in the central feedback regulation of the reproductive axis by estrogen.

Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy

Science.gov (United States)

Huang, Xiao-Yan; Zhuang, Hong; Wu, Ji-Hong; Li, Jian-Kang; Hu, Fang-Yuan; Zheng, Yu; Tellier, Laurent Christian Asker M.; Zhang, Sheng-Hai; Gao, Feng-Juan; Zhang, Jian-Guo

2017-01-01

Purpose Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR. Methods To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members by using Sanger sequencing and quantitative real-time PCR (QPCR). Results Of the cohort of ten FEVR families, six pathogenic variants were identified, including four novel and two known heterozygous mutations. Of the variants identified, four were missense variants, and two were novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del]. The two novel heterozygous deletion mutations were not observed in the control subjects and could give rise to a relatively severe FEVR phenotype, which could be explained by the protein function prediction. Conclusions We identified two novel heterozygous deletion mutations [LRP5, c.4053 DelC (p.Ile1351IlefsX88); TSPAN12, EX8Del] using targeted NGS as a causative mutation for FEVR. These genetic deletion variations exhibit a severe form of FEVR, with tractional retinal detachments compared with other known point mutations. The data further enrich the mutation spectrum of FEVR and enhance our understanding of genotype–phenotype correlations to provide useful information for disease diagnosis, prognosis, and effective genetic counseling. PMID:28867931

Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

Directory of Open Access Journals (Sweden)

Miller Michael

2009-01-01

Full Text Available Abstract Background Mutations at splice junctions causing exon skipping are uncommon compared to exonic mutations, and two intronic mutations causing an aberrant phenotype have rarely been reported. Despite the high number of functional ABCA1 mutations reported to date, splice variants have been reported infrequently. We screened DNA from a 41 year-old male with low HDL-C (12 mg/dL [0.31 mmol/L] and a family history of premature coronary heart disease (CHD using polymerase chain reaction single-strand conformation polymorphism (SSCP analysis. Methods Family members with low levels of HDL-C (n = 6 were screened by SSCP for mutations in ABCA1. Samples with altered SSCP patterns were sequenced directly using either an ABI 3700 or ABI3730Xl DNA Analyzer. To screen for splicing defects, cDNA was isolated from the proband's RNA and was sequenced as above. A series of minigenes were constructed to determine the contribution of normal and defective alleles. Results Two novel splice variants in ABCA1 were identified. The first mutation was a single base pair change (T->C in IVS 7, 6 bps downstream from the exon7/intron7 junction. Amplification of cDNA and allelic subcloning identified skipping of Exon 7 that results in the elimination of 59 amino acids from the first extracellular loop of the ABCA1 protein. The second mutation was a single base pair change (G->C at IVS 31 -1, at the intron/exon junction of exon 32. This mutation causes skipping of exon 32, resulting in 8 novel amino acids followed by a stop codon and a predicted protein size of 1496 AA, compared to normal (2261 AA. Bioinformatic studies predicted an impact on splicing as confirmed by in vitro assays of constitutive splicing. Conclusion In addition to carnitine-acylcarnitine translocase (CACT deficiency and Hermansky-Pudlak syndrome type 3, this represents only the third reported case in which 2 different splice mutations has resulted in an aberrant clinical phenotype.

Maintenance of family networks

DEFF Research Database (Denmark)

marsico, giuseppina; Chaudhary, N; Valsiner, Jaan

2015-01-01

Families are social units that expand in time (across generations) and space (as a geographically distributed sub-structures of wider kinship networks). Understanding of intergenerational family relations thus requires conceptualization of communication processes that take place within a small...... collective of persons linked with one another by a flexible social network. Within such networks, Peripheral Communication Patterns set the stage for direct everyday life activities within the family context. Peripheral Communication Patterns are conditions where one family network member (A) communicates...... manifestly with another member (B) with the aim of bringing the communicative message to the third member (C) who is present but is not explicitly designated as the manifest addressee of the intended message. Inclusion of physically non-present members of the family network (elders living elsewhere, deceased...

Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.

Science.gov (United States)

Nielsen, Peter B; Petersen, Maja S; Ystaas, Viviana; Andersen, Rolf V; Hansen, Karin M; Blaabjerg, Vibeke; Refstrup, Mette

2012-10-01

Classical hereditary hemochromatosis involves the HFE-gene and diagnostic analysis of the DNA variants HFE p.C282Y (c.845G>A; rs1800562) and HFE p.H63D (c.187C>G; rs1799945). The affected protein alters the iron homeostasis resulting in iron overload in various tissues. The aim of this study was to validate the TaqMan-based Sample-to-SNP protocol for the analysis of the HFE-p.C282Y and p.H63D variants with regard to accuracy, usefulness and reproducibility compared to an existing SNP protocol. The Sample-to-SNP protocol uses an approach where the DNA template is made accessible from a cell lysate followed by TaqMan analysis. Besides the HFE-SNPs other eight SNPs were used as well. These SNPs were: Coagulation factor II-gene F2 c.20210G>A, Coagulation factor V-gene F5 p.R506Q (c.1517G>A; rs121917732), Mitochondria SNP: mt7028 G>A, Mitochondria SNP: mt12308 A>G, Proprotein convertase subtilisin/kexin type 9-gene PCSK9 p.R46L (c.137G>T), Plutathione S-transferase pi 1-gene GSTP1 p.I105V (c313A>G; rs1695), LXR g.-171 A>G, ZNF202 g.-118 G>T. In conclusion the Sample-to-SNP kit proved to be an accurate, reliable, robust, easy to use and rapid TaqMan-based SNP detection protocol, which could be quickly implemented in a routine diagnostic or research facility. Copyright © 2012. Published by Elsevier B.V.

Hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A polymorphisms are associated with the risk of esophageal cancer in a Chinese population.

Directory of Open Access Journals (Sweden)

Jun Yin

Full Text Available Esophageal cancer is the eighth most common cancer and sixth leading cause of cancer associated death worldwide. Besides environmental risk factors, genetic factors might play an important role in the esophageal cancer carcinogenesis. We conducted a hospital based case-control study to evaluate the genetic susceptibility of functional single nucleotide polymorphisms (SNPs in the microRNAs on the development of esophageal cancer. A total of 629 esophageal squamous cell carcinoma (ESCC cases and 686 controls were recruited for this study. The hsa-miR-34b/c rs4938723 T>C, pri-miR-124-1 rs531564 C>G, pre-miR-125a rs12975333 G>T and hsa-miR-423 rs6505162 C>A genotypes were determined using Ligation Detection Reaction (LDR method. Our results demonstrated that hsa-miR-34b/c rs4938723 CC genotype had a decreased risk of ESCC. The association was evident among patients who never drinking. Hsa-miR-423 rs6505162 C>A might associated with a significantly increased risk of ESCC in patients who smoking. These findings indicated that functional polymorphisms hsa-miR-34b/c rs4938723 T>C and hsa-miR-423 rs6505162 C>A might alter individual susceptibility to ESCC. However, our results were obtained with a limited sample size. Future larger studies with other ethnic populations are required to confirm current findings.

Human cDNA clones for an α subunit of G/sub i/ signal-transduction protein

International Nuclear Information System (INIS)

Bray, P.; Carter, A.; Guo, V.; Puckett, C.; Kamholz, J.; Spiegel, A.; Nirenberg, M.

1987-01-01

Two cDNA clones were obtained from a λgt11 cDNA human brain library that correspond to α/sub i/ subunits of G signal-transduction proteins (where α/sub i/ subunits refer to the α subunits of G proteins that inhibit adenylate cyclase). The nucleotide sequence of human brain α/sub i/ is highly homologous to that of bovine brain α/sub i/ and the predicted amino acid sequences are identical. However, human and bovine brain α/sub i/ cDNAs differ significantly from α/sub i/ cDNAs from human monocytes, rat glioma, and mouse macrophages in amino acid (88% homology) and nucleotide (71-75% homology) sequences. In addition, the nucleotide sequences of the 3' untranslated regions of human and bovine brain α/sub i/ cDNAs differ markedly from the sequences of human monocyte, rat glioma, and mouse macrophage α/sub i/ cDNAs. These results suggest there are at least two classes of α/sub i/ mRNA

Family Farming Practices in Taraba State Emodi, A.I. Albert, C.O. ...

African Journals Online (AJOL)

E M IGBOKWE

In most countries family farming is the predominant form of agriculture in food ... ill health and fast aging among the farming community (Dugbazah, 2009). ... iii. examine effects of family farming activities on agricultural development; and ..... poor extension contact ( x =2.26), and bad communication network ( x =2.06), lack of.

Major and c-series gangliosides in lenticular tissues: mammals to molluscs.

Science.gov (United States)

Saito, M; Sugiyama, K

2001-10-01

Gangliosides of eye lenses were examined in mammals (rat, rabbits, pig, cow), bird (chicken), reptile (terrapin), amphibian (bullfrog), bony fish (red sea bream, bluefin tuna, bonito, Pacific mackerel) and molluscs (common squid, Pacific octopus). Besides the fact that GM3 was the common ganglioside species, the composition of major gangliosides in mammalian eye lenses significantly differed from each other. While gangliotetraose gangliosides were abundant in rat eye lens, they did not constitute major components in porcine and bovine tissues. The c-series ganglioside GT3 was expressed in rat eye lenses but were practically absent in other mammalian tissues. The composition of major gangliosides in eye lenses of lower animals varied from species to species, whereas c-series gangliosides were consistently expressed, showing similar compositional profiles. Our results demonstrate the species-specific compositions of lenticular gangliosides. Evidence was also provided suggesting that eye lenses of common squid (Todarodes pacificus) and Pacific octopus (Octopus vulgaris) express gangliosides including gangliotetraose species and c-series gangliosides.

Study of a Biparametric Family of Iterative Methods

Directory of Open Access Journals (Sweden)

B. Campos

2014-01-01

Full Text Available The dynamics of a biparametric family for solving nonlinear equations is studied on quadratic polynomials. This biparametric family includes the c-iterative methods and the well-known Chebyshev-Halley family. We find the analytical expressions for the fixed and critical points by solving 6-degree polynomials. We use the free critical points to get the parameter planes and, by observing them, we specify some values of (α, c with clear stable and unstable behaviors.

Development and validation of a genotype 3 recombinant protein-based immunoassay for hepatitis E virus serology in swine

Directory of Open Access Journals (Sweden)

W.H.M. van der Poel

2014-04-01

Full Text Available Hepatitis E virus (HEV is classified within the family Hepeviridae, genus Hepevirus. HEV genotype 3 (Gt3 infections are endemic in pigs in Western Europe and in North and South America and cause zoonotic infections in humans. Several serological assays to detect HEV antibodies in pigs have been developed, at first mainly based on HEV genotype 1 (Gt1 antigens. To develop a sensitive HEV Gt3 ELISA, a recombinant baculovirus expression product of HEV Gt3 open reading frame-2 was produced and coated onto polystyrene ELISA plates. After incubation of porcine sera, bound HEV antibodies were detected with anti-porcine anti-IgG and anti-IgM conjugates. For primary estimation of sensitivity and specificity of the assay, sets of sera were used from pigs experimentally infected with HEV Gt3. For further validation of the assay and to set the cutoff value, a batch of 1100 pig sera was used. All pig sera were tested using the developed HEV Gt3 assay and two other serologic assays based on HEV Gt1 antigens. Since there is no gold standard available for HEV antibody testing, further validation and a definite setting of the cutoff of the developed HEV Gt3 assay were performed using a statistical approach based on Bayes' theorem. The developed and validated HEV antibody assay showed effective detection of HEV-specific antibodies. This assay can contribute to an improved detection of HEV antibodies and enable more reliable estimates of the prevalence of HEV Gt3 in swine in different regions.

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Directory of Open Access Journals (Sweden)

Yaser Mohammad Alkhiary

2016-09-01

Full Text Available Papillon–Lefevre syndrome (PALS is a rare, autosomal recessive disorder characterized by periodontitis and hyperkeratosis over the palms and soles. Mutations in the cathepsin C gene (CTSC have been recognized as the cause of PALS since the late 1990s. More than 75 mutations in CTSC have been identified, and phenotypic variability between different mutations has been described. Next generation sequencing is widely used for efficient molecular diagnostics in various clinical practices. Here we investigated a large consanguineous Saudi family with four affected and four unaffected individuals. All of the affected individuals suffered from hyperkeratosis over the palms and soles and had anomalies of both primary and secondary dentition. For molecular diagnostics, we combined whole-exome sequencing and genome-wide homozygosity mapping procedures, and identified a recurrent homozygous missense mutation (c.899G>A; p.Gly300Asp in exon 7 of CTSC. Validation of all eight family members by Sanger sequencing confirmed co-segregation of the pathogenic variant (c.899G>A with the disease phenotype. This is the first report of whole-exome sequencing performed for molecular diagnosis of PALS in Saudi Arabia. Our findings provide further insights into the genotype–phenotype correlation of CTSC pathogenicity in PALS.

Whey protein concentrate and gum tragacanth as fat replacers in nonfat yogurt: chemical, physical, and microstructural properties.

Science.gov (United States)

Aziznia, S; Khosrowshahi, A; Madadlou, A; Rahimi, J

2008-07-01

The effect of whey protein concentrate (WPC) and gum tragacanth (GT) as fat replacers on the chemical, physical, and microstructural properties of nonfat yogurt was investigated. The WPC (7.5, 15, and 20 g/L) and GT (0.25, 0.5, 0.75, and 1 g/L) were incorporated into the skim milk slowly at 40 to 45 degrees C with agitation. The yogurt mixes were pasteurized at 90 degrees C for 10 min, inoculated with 0.1% starter culture, and incubated at 42 degrees C to pH 4.6, then refrigerated overnight at 5 degrees C. A control nonfat yogurt and control full fat yogurt were prepared as described, but without addition of WPC and GT. Increasing amount of WPC led to the increase in total solids, total protein, acidity, and ash content, whereas GT did not affect chemical parameters. Increasing WPC caused a more compact structure consisting of robust casein particles and large aggregates. Firmness was increased and susceptibility to syneresis was decreased as WPC increased. No significant difference was observed for firmness and syneresis of yogurt fortified with GT up to 0.5 g/L compared with control nonfat yogurt. Increasing the amount of gum above 0.5 g/L produced softer gels with a greater tendency for syneresis than the ones prepared without it. Addition of GT led to the coarser and more open structure compared with control yogurt.

Identification of rare paired box 3 variant in strabismus by whole exome sequencing

Directory of Open Access Journals (Sweden)

Hui-Min Gong

2017-08-01

Full Text Available AIM: To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus. METHODS: A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation sequencing technology. The resulting variants from exome sequencing were filtered by subsequent bioinformatics methods and the candidate mutation was verified as heterozygous in the affected proposita and her mother by sanger sequencing. RESULTS: Whole exome sequencing and filtering identified a nonsynonymous mutation c.434G-T transition in paired box 3 (PAX3 in the two affected individuals, which were predicted to be deleterious by more than 4 bioinformatics programs. This altered amino acid residue was located in the conserved PAX domain of PAX3. This gene encodes a member of the PAX family of transcription factors, which play critical roles during fetal development. Mutations in PAX3 were associated with Waardenburg syndrome with strabismus. CONCLUSION: Our results report that the c.434G-T mutation (p.R145L in PAX3 may contribute to strabismus, expanding our understanding of the causally relevant genes for this disorder.

Families experiencing housing instability: the effects of housing programs on family routines and rituals.

Science.gov (United States)

Mayberry, Lindsay Satterwhite; Shinn, Marybeth; Benton, Jessica Gibbons; Wise, Jasmine

2014-01-01

Maintenance of family processes can protect parents, children, and families from the detrimental effects of extreme stressors, such as homelessness. When families cannot maintain routines and rituals, the stressors of poverty and homelessness can be compounded for both caregivers and children. However, characteristics of living situations common among families experiencing homelessness present barriers to the maintenance of family routines and rituals. We analyzed 80 in-depth interviews with parents who were experiencing or had recently experienced an instance of homelessness. We compared their assessments of challenges to family schedules, routines, and rituals across various living situations, including shelter, transitional housing programs, doubled-up (i.e., living temporarily with family or friends), and independent housing. Rules common across shelters and transitional housing programs impeded family processes, and parents felt surveilled and threatened with child protective service involvement in these settings. In doubled-up living situations, parents reported adapting their routines to those of the household and having parenting interrupted by opinions of friends and family members. Families used several strategies to maintain family routines and rituals in these living situations and ensure consistency and stability for their children during an otherwise unstable time. (c) 2014 APA, all rights reserved.

Examining inter-family differences in intra-family (parent-adolescent) dynamics using grid-sequence analysis.

Science.gov (United States)

Brinberg, Miriam; Fosco, Gregory M; Ram, Nilam

2017-12-01

Family systems theorists have forwarded a set of theoretical principles meant to guide family scientists and practitioners in their conceptualization of patterns of family interaction-intra-family dynamics-that, over time, give rise to family and individual dysfunction and/or adaptation. In this article, we present an analytic approach that merges state space grid methods adapted from the dynamic systems literature with sequence analysis methods adapted from molecular biology into a "grid-sequence" method for studying inter-family differences in intra-family dynamics. Using dyadic data from 86 parent-adolescent dyads who provided up to 21 daily reports about connectedness, we illustrate how grid-sequence analysis can be used to identify a typology of intrafamily dynamics and to inform theory about how specific types of intrafamily dynamics contribute to adolescent behavior problems and family members' mental health. Methodologically, grid-sequence analysis extends the toolbox of techniques for analysis of family experience sampling and daily diary data. Substantively, we identify patterns of family level microdynamics that may serve as new markers of risk/protective factors and potential points for intervention in families. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.

Science.gov (United States)

Lun, Yu; Sun, Xiaofang; Wang, Ping; Chi, Jingwei; Hou, Xu; Wang, Yangang

2017-07-18

Lipoprotein lipase (LPL) is widely expressed in skeletal muscles, cardiac muscles as well as adipose tissue and involved in the catabolism of triglyceride. Herein we have systematically characterized two novel loss-of-function mutations in LPL from a Chinese family in which afflicted members were manifested by severe hypertriglyceridemia and recurrent pancreatitis. DNA sequencing revealed that the proband was a heterozygote carrying a novel c.T928C (p.C310R) mutation in exon 6 of the LPL gene. Another member of the family was detected to be a compound heterozygote who along with the c.T928C mutation also carried a novel missense mutation c.A1187T (p.E396V) in exon 8 of the LPL gene. Furthermore, COS-1 cells were transfected with lentiviruses containing the mutant LPL genes. While C310R markedly reduced the overall LPL protein level, COS-1 cells carrying E396V or double mutations contained similar overall LPL protein levels to the wild-type. The specific activity of the LPL mutants remained at comparable magnitude to the wild-type. However, few LPL were detected in the culture medium for the mutants, suggesting that both mutations caused aberrant triglyceride catabolism. More specifically, E396V and double mutations dampened the transport of LPL to the cell surface, while for the C310R mutation, reducing LPL protein level might be involved. By characterizing these two novel LPL mutations, this study has expanded our understanding on the pathogenesis of familial hypertriglyceridemia (FHTG).

Experiences of Family Relationships Among Donor-Conceived Families: A Meta-Ethnography.

Science.gov (United States)

Wyverkens, Elia; Van Parys, Hanna; Buysse, Ann

2015-09-01

In this qualitative evidence synthesis, we explore how family relationships are experienced by parents who used gamete donation to conceive. We systematically searched four databases (PubMed, Web of Science, PsycINFO, and ProQuest) for literature related to this topic and retrieved 25 studies. Through the analysis of the qualitative studies, a comprehensive synthesis and framework was constructed. Following the meta-ethnography approach of Noblit and Hare, four main themes were identified: (a) balancing the importance of genetic and social ties, (b) normalizing and legitimizing the family, (c) building strong family ties, and (d) minimizing the role of the donor. Underlying these four main themes, a sense of being "different" and "similar" at the same time was apparent. Findings are discussed in terms of their implications for studying and counseling donor-conceived families. © The Author(s) 2014.

A família e o processo de adoecer de câncer bucal Family and oral cancer

Directory of Open Access Journals (Sweden)

Mônica Cristina Batista de Melo

2005-12-01

Full Text Available Considerando-se que a família participa na iniciação de comportamentos sociais dos indivíduos, o presente estudo teve como objetivo investigar sua participação na adoção de hábitos considerados como fatores de risco para o câncer. O perfil sociodemográfico da população estudada (32 mulheres portadoras de câncer bucal caracterizou um quadro de pobreza social. Dentre os fatores de risco associados à doença predominaram o fumo e o álcool. Concluiu-se que a família, através dos processos de aprendizagem social e identificação, teve uma participação importante quanto à adoção das atitudes de risco.Considering that the family participates in the initiation of social behaviors of the individuals, the present study had the purpose to investigate its participation in the adoption of habits considered as risk factors of cancer. The socio-demographic profile of the studied population (32 women suffering from oral cancer was representative of social poverty. Amongst the risk factors associated to the illness were: tobacco, alcohol, and the use of dental prostheses. It was concluded that the family, through processes of social learning and identification, plaid and important role on the adoption of the risk attitudes.

SIGNIFICANCE OF GALACTINOL AND RAFFINOSE FAMILY OLIGOSACCHARIDE SYNTHESIS IN PLANTS

Directory of Open Access Journals (Sweden)

Sonali eSengupta

2015-08-01

Full Text Available Abiotic stress induces differential expression of genes responsible for the synthesis of Raffinose series of Oligosaccharides (RFOs in plants. RFOs are described as the most widespread D-galactose containing oligosaccharides in higher plants. Biosynthesis of RFOs begin with the activity of Galactinol synthase (GolS; EC 2.4.1.123, a GT8 family glycosyltransferase that galactosylates myo-inositol to produce galactinol. Raffinose and the subsequent higher molecular weight RFOs (Stachyose, Verbascose and Ajugose are synthesized from sucrose by the subsequent addition of activated galactose moieties donated by Galactinol. Interestingly, GolS, the key enzyme of this pathway is functional only in the flowering plants. It is thus assumed that RFO synthesis is a specialized metabolic event in higher plants; although it is not known whether lower plant groups synthesize any galactinol or RFOs. In higher plants, several functional importance of RFOs have been reported, e.g. RFOs protect the embryo from maturation associated desiccation, are predominant transport carbohydrate in some plant families, act as signaling molecule following pathogen attack and wounding and accumulate in vegetative tissues in response to a range of abiotic stresses. However, the loss-of-function mutants reported so far fail to show any perturbation in those biological functions. The role of RFOs in biotic and abiotic stress is therefore still in debateand their specificity and related components remains to be demonstrated. The present review discusses the biology and stress-linked regulation of this less studied extension of inositol metabolic pathway.

Apolipoprotein C-II and C-III metabolism in a kindred of familial hypobetalipoproteinemia

International Nuclear Information System (INIS)

Malmendier, C.L.; Delcroix, C.; Lontie, J.F.; Dubois, D.Y.

1991-01-01

Three affected members of a kindred with asymptomatic hypobetalipoproteinemia (HBL) showed low levels of triglycerides, low-density lipoprotein (LDL)-cholesterol, and apolipoproteins (apo) B, C-II, and C-III. Turnover of iodine-labeled apo C-II and apo C-III associated in vitro to plasma lipoproteins was studied after intravenous injection. Radioactivity in plasma and lipoproteins (95% recovered in high-density lipoprotein [HDL] density range) and in 24-hour urine samples was observed for 16 days. A parallelism of the slowest slopes of plasma decay curves was observed between apo C-II and apo C-III, indicating a partial common catabolic route. Urine/plasma radioactivity ratio (U/P) varied with time, suggesting heterogeneity of metabolic pathways. A new compartmental model using the SAAM program was built, not only fitting simultaneously plasma and urine data, but also taking into account the partial common metabolism of lipoprotein particles (LP) containing apo C-II and apo C-III. The low apo C-II and C-III plasma concentrations observed in HBL compared with normal resulted from both an increased catabolism and a reduced synthesis, these changes being more marked for apo C-III. The modifications in the rate constants of the different pathways calculated from the new model are in favor of an increased direct removal of particles following the fast pathway, likely in the very-low-density lipoprotein (VLDL) density range

Heterogeneity of rat tropoelastin mRNA revealed by cDNA cloning

International Nuclear Information System (INIS)

Pierce, R.A.; Deak, S.B.; Stolle, C.A.; Boyd, C.D.

1990-01-01

A λgt11 library constructed from poly(A+) RNA isolated from aortic tissue of neonatal rats was screened for rat tropoelastin cDNAs. The first, screen, utilizing a human tropoelastin cDNA clone, provided rat tropoelastin cDNAs spanning 2.3 kb of carboxy-terminal coding sequence and extended into the 3'-untranslated region. A subsequent screen using a 5' rat tropoelastin cDNA clone yielded clones extending into the amino-terminal signal sequence coding region. Sequence analysis of these clones has provided the complete derived amino acid sequence of rat tropoelastin and allowed alignment and comparison with published bovine cDNA sequence. While the overall structure of rat tropoelastin is similar to bovine sequence, numerous substitutions, deletions, and insertions demonstrated considerable heterogeneity between species. In particular, the pentapeptide repeat VPGVG, characteristic of all tropoelastins analyzed to date, is replaced in rat tropoelastin by a repeating pentapeptide, IPGVG. The hexapeptide repeat VGVAPG, the bovine elastin receptor binding peptide, is not encoded by rat tropoelastin cDNAs. Variations in coding sequence between rat tropoelastin CDNA clones were also found which may represent mRNA heterogeneity produced by alternative splicing of the rat tropoelastin pre-mRNA

HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies.

Science.gov (United States)

de la Fuente-Gonzalo, Félix; Nieto, Jorge M; Velasco, Diego; Cela, Elena; Pérez, Germán; Fernández-Teijeiro, Ana; Escudero, Antonio; Villegas, Ana; González-Fernández, Fernando A; Ropero, Paloma

2016-04-01

Structural hemoglobinopathies do not usually have a clinical impact, but they can interfere with the analytical determination of some parameters, such as the glycated hemoglobin in diabetic patients. Thalassemias represent a serious health problem in areas where their incidence is high. The defects in the post-translational modifications produce hyper-unstable hemoglobin that is not detected by most of electrophoretic or chromatographic methods that are available so far. We studied seven patients who belong to six unrelated families. The first two families were studied because they had peak abnormal hemoglobin (Hb) during routine analytical assays. The other four families were studied because they had microcytosis and hypochromia with normal HbA2 and HbF without iron deficiency. HbA2 and F quantification and abnormal Hb separation were performed by chromatographic and electrophoretic methods. The molecular characterization was performed using specific sequencing. The Hb Puerta del Sol presents electrophoretic mobility and elution in HPLC that is different from HbA and similar to HbS. The electrophoretic and chromatographic profiles of the four other variants are normal and do not show any anomalies, and their identification was only possible with sequencing. Some variants, such as Hb Valdecilla, Hb Gran Vía, Hb Macarena and Hb El Retiro, have significant clinical impact when they are associated with other forms of α-thalassemia, which could lead to more serious forms of this group of pathologies as for HbH disease. Therefore, it is important to maintain an adequate program for screening these diseases in countries where the prevalence is high to prevent the occurrence of severe forms.

"Imagine a clinical world without family systems thinking": Comment.

Science.gov (United States)

Jacobs, Barry J

2018-06-01

Comments on an editorial by C. T. Fogarty and L. B. Mauksch (see record 2017-56601-001). The editorial discussed collaborative family health care and the importance of family and social context to yield a comprehensive understanding of health. Jacobs agrees that family systemic thinking is an extremely helpful tool for clinicians, even if there's limited data to prove that. But he also thinks that systemic thinking in and of itself doesn't flatten the health care hierarchy and empower family members. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Karyotypic evolution in family Hipposideridae (Chiroptera, Mammalia) revealed by comparative chromosome painting, G- and C-banding.

Science.gov (United States)

Mao, Xiu-Guang; Wang, Jin-Huan; Su, Wei-Ting; Wang, Ying-Xiang; Yang, Feng-Tang; Nie, Wen-Hui

2010-10-01

Comparing to its sister-family (Rhinolophidae), Hipposideridae was less studied by cytogenetic approaches. Only a few high-resolution G-banded karyotypes have been reported so far, and most of the conclusions on the karyotypic evolution in Hipposideridae were based on conventional Giemsa-staining. In this study, we applied comparative chromosome painting, a method of choice for genome-wide comparison at the molecular level, and G- and C-banding to establish comparative map between five hipposiderid species from China, using a whole set of chromosome-specific painting probes from one of them (Aselliscus stoliczkanus). G-band and C-band comparisons between homologous segments defined by chromosome painting revealed that Robertsonian translocations, paracentric inversions and heterochromatin addition could be the main mechanism of chromosome evolution in Hipposideridae. Comparative analysis of the conserved chromosomal segments among five hipposiderid species and outgroup species suggests that bi-armed chromosomes should be included into the ancestral karyotype of Hipposideridae, which was previously believed to be exclusively composed of acrocentric chromosomes.

Efficient Wide Range Converters (EWiRaC): A new family of high efficient AC-DC Converters

DEFF Research Database (Denmark)

Petersen, Lars; Andersen, Michael Andreas E.

2006-01-01

The performance in terms of efficiency of the existing power supplies used for PFC is very dependent on the input voltage range. The boost converter is the most commonly used PFC converter because of its simplicity and high efficiency. But, the boost converter as well as other known converters...... suffers a major penalty in efficiency when used at the low end of the voltage range (90VAC) in a universal voltage range application (90-270VAC). This paper addresses this problem by suggesting a new family of converters that effectively reduces the apparent voltage range with a factor of 2 by changing...... the converter topology according to the input voltage. This new converter type has been named: efficient wide range converter (EWiRaC). The performance of the EWiRaC is experimental verified in a universal input range (90-270VAC) application with an output voltage of 185VDC capable of 500W output power. The EWi...

Family members' unique perspectives of the family: examining their scope, size, and relations to individual adjustment.

Science.gov (United States)

Jager, Justin; Bornstein, Marc H; Putnick, Diane L; Hendricks, Charlene

2012-06-01

Using the McMaster Family Assessment Device (Epstein, Baldwin, & Bishop, 1983) and incorporating the perspectives of adolescent, mother, and father, this study examined each family member's "unique perspective" or nonshared, idiosyncratic view of the family. We used a modified multitrait-multimethod confirmatory factor analysis that (a) isolated for each family member's 6 reports of family dysfunction the nonshared variance (a combination of variance idiosyncratic to the individual and measurement error) from variance shared by 1 or more family members and (b) extracted common variance across each family member's set of nonshared variances. The sample included 128 families from a U.S. East Coast metropolitan area. Each family member's unique perspective generalized across his or her different reports of family dysfunction and accounted for a sizable proportion of his or her own variance in reports of family dysfunction. In addition, after holding level of dysfunction constant across families and controlling for a family's shared variance (agreement regarding family dysfunction), each family member's unique perspective was associated with his or her own adjustment. Future applications and competing alternatives for what these "unique perspectives" reflect about the family are discussed. PsycINFO Database Record (c) 2012 APA, all rights reserved.

Expression of the C-terminal family 22 carbohydratebinding module ...

African Journals Online (AJOL)

... not reveal marked cell wall phenotype. In addition, there were no observable changes in the height or the appearance of the transgenic plants expressing the CBM22-2 module. The results indicate that the family 22 carbohydrate binding module is not a potential candidate for use in in planta modification of the cell wall.

Hemoglobin C disease

Science.gov (United States)

Clinical hemoglobin C ... Hemoglobin C is an abnormal type of hemoglobin, the protein in red blood cells that carries oxygen. It is ... Americans. You are more likely to have hemoglobin C disease if someone in your family has had ...

The association of SNP276G>T at adiponectin gene with insulin resistance and circulating adiponectin in response to two different hypocaloric diets.

Science.gov (United States)

de Luis, Daniel Antonio; Izaola, Olatz; Primo, David; Aller, R; Ortola, A; Gómez, E; Lopez, J J

2018-03-01

Several adiponectin gene (ADIPOQ) single nucleotide polymorphisms (SNPS) have been related with adiponectin levels and risk for obesity. The aim of our study was to analyze the effect of rs1501299 ADIPOQ gene polymorphism and dietary intake on total adiponectin levels and insulin resistance after two hypocaloric diets in obese subjects. A Caucasian population of 284 obese patients was enrolled in a randomized clinical trial with two hypocaloric diets (I: moderate carbohydrates vs II: low fat). Before and after 12 weeks on each hypocaloric diet, an anthropometric evaluation, an assessment of nutritional intake and a biochemical analysis were realized. The statistical analysis was performed for the combined GT and TT as a group (mutant) and GG as second group (wild) (dominant model). The genotype distribution was 149 GG, 124 GT and 21 TT. With caloric restriction strategies, body weight, body mass index (BMI), fat mass, waist circumference, systolic blood pressure, total LDL cholesterol, LDL cholesterol and leptin levels decreased. Only in subjects with GG genotype, diet I and II decreased fasting insulin levels, HOMA-IR and adiponectin levels. The improvement was similar with both diets; insulin concentrations (Diet I: -4.7 ± 1.4 mUI/L vs. Diet II: -5.9 ± 1.9 mUI/L: p = .76), HOMA-IR (Diet I: -1.4 ± 0.6 units vs. Diet II: -2.0 ± 0.7 units: p = .56) and adiponectin levels (Diet I: -10.2 ± 3.4 ng/dl vs. Diet II: -14.0 ± 2.9 ng/dl: p = .33). The GG genotype of ADIPOQ gene variant (rs1501299) is associated with an increase in adiponectin levels and a decrease of insulin and HOMA-IR after weight loss. Copyright © 2018 Elsevier B.V. All rights reserved.

Disruption and analysis of the clpB, clpC, and clpE genes in Lactococcus lactis: ClpE, a new Clp family in gram-positive bacteria

DEFF Research Database (Denmark)

Ingmer, Hanne; Vogensen, Finn K.; Hammer, Karin

1999-01-01

In the genome of the gram-positive bacterium Lactococcus lactis MG1363, we have identified three genes (clpC, clpE, and clpB) which encode Clp proteins containing two conserved ATP binding domains. The proteins encoded by two of the genes belong to the previously described ClpB and ClpC families....... The clpE gene, however, encodes a member of a new Clp protein family that is characterized by a short N-terminal domain including a putative zinc binding domain (-CX2CX22CX2C-). Expression of the 83-kDa ClpE protein as well as of the two proteins encoded by clpB was strongly induced by heat shock and...... was shown to participate in the degradation of randomly folded proteins in L. lactis, could be necessary for degrading proteins generated by certain types of stress....

Reconsideration of atmospheric CO2 lifetime: potential mechanism for explaining CO2 missing sink

Science.gov (United States)

Kikuchi, R.; Gorbacheva, T.; Gerardo, R.

2009-04-01

Carbon cycle data (Intergovernmental Panel on Climate Change 1996) indicate that fossil fuel use accounts for emissions to the atmosphere of 5.5±0.5 GtC (Gigatons of carbon) annually. Other important processes in the global CO2 budget are tropical deforestation, estimated to generate about 1.6±1.0 GtC/yr; absorption by the oceans, removing about 2.0±0.8 GtC/yr; and regrowth of northern forests, taking up about 0.5±0.5 GtC/yr. However, accurate measurements of CO2 show that the atmosphere is accumulating only about 3.3±0.2 GtC/yr. The imbalance of about 1.3±1.5 GtC/yr, termed the "missing sink", represents the difference between the estimated sources and the estimated sinks of CO2; that is, we do not know where all of the anthropogenic CO2 is going. Several potential mechanisms have been proposed to explain this missing carbon, such as CO2 fertilization, climate change, nitrogen deposition, land use change, forest regrowth et al. Considering the complexity of ecosystem, most of ecosystem model cannot handle all the potential mechanisms to reproduce the real world. It has been believed that the dominant sink mechanism is the fertilizing effects of increased CO2 concentrations in the atmosphere and the addition to soils of fixed nitrogen from fossil-fuel burning and agricultural fertilizers. However, a recent analysis of long-term observations of the change in biomass and growth rates suggests that such fertilization effects are much too small to explain more than a small fraction of the observed sink. In addition, long-term experiments in which small forest patches and other land ecosystems have been exposed to elevated CO2 levels for extended periods show a rapid decrease of the fertilization effect after an initial enhancement. We will explore this question of the missing sink in atmospheric CO2 residence time. Radioactive and stable carbon isotopes (13-C/12-C) show the real CO2 lifetime is about 5 years; i.e. CO2 is quickly taken out of the atmospheric

Cloning and characterization of a glucosyltransferase from Crocus sativus stigmas involved in flavonoid glucosylation

Directory of Open Access Journals (Sweden)

Ahrazem Oussama

2009-08-01

Full Text Available Abstract Background Flavonol glucosides constitute the second group of secondary metabolites that accumulate in Crocus sativus stigmas. To date there are no reports of functionally characterized flavonoid glucosyltransferases in C. sativus, despite the importance of these compounds as antioxidant agents. Moreover, their bitter taste makes them excellent candidates for consideration as potential organoleptic agents of saffron spice, the dry stigmas of C. sativus. Results Using degenerate primers designed to match the plant secondary product glucosyltransferase (PSPG box we cloned a full length cDNA encoding CsGT45 from C. sativus stigmas. This protein showed homology with flavonoid glucosyltransferases. In vitro reactions showed that CsGT45 catalyses the transfer of glucose from UDP_glucose to kaempferol and quercetin. Kaempferol is the unique flavonol present in C. sativus stigmas and the levels of its glucosides changed during stigma development, and these changes, are correlated with the expression levels of CsGT45 during these developmental stages. Conclusion Findings presented here suggest that CsGT45 is an active enzyme that plays a role in the formation of flavonoid glucosides in C. sativus.

Immunoselection of cDNAs to avian intestinal calcium binding protein 28K and a novel calmodulin-like protein: assessment of mRNA regulation by the Vitamin D hormone

International Nuclear Information System (INIS)

Mangelsdorf, D.J.; Komm, B.S.; McDonnell, D.P.; Pike, J.W.; Haussler, M.R.

1987-01-01

Calcium's role in a variety of cellular processes has been well documented. The storage, distribution, and delivery of calcium are regulated by a family of binding proteins including troponin C, calmodulin, parvalbumin, and vitamin D dependent calcium binding protein (CaBP-28), all of which have evolved from a common ancestral gene. To evaluate vitamin D regulation of gene transcription, a CaBP-28 cDNA (767 base pairs) was isolated from a chicken intestine λgt11 library utilizing a polyvalent CaBP-28 antibody as a probe. Coincident with the identification of the CaBP-28 cDNA, a group of cDNAs also was isolated (with the anti-CaBP-28 antibody) that demonstrated 84% nucleotide homology and 99% deduced amino acid homology with chicken brain calmodulin (CaM). This new CaM-like cDNA was named neoCaM. There is little nucleotide homology between the CaBP-28 cDNA and neoCaM. The CaBP-28 cDNA hybridizes with three transcripts of 2000, 2900, and 3300 bases which are dramatically induced by 1,25-dihydroxyvitamin D 3 [1,25(OH) 2 D 3 ], while the neoCaM cDNA recognizes three distinct (from CaBP-28) transcripts. Two of these mRNAs are 1400 and 1800 bases as described for brain CaM, but another large 4000-base transcript is detected with neoCaM. Neither the CaM nor the neoCaM transcript reveals any modulation by 1,25(OH) 2 D 3 . Herein, the authors discuss the possible significance of not only the isolation of both cDNAs with a single antibody but also the relation of neoCaM to other well-characterized CaM cDNAs

Comparison of computer codes (CE-THERM, FRAP-T5, GT3-FLECHT, and TRUMP-FLECHT) with data from the NRU-LOCA thermal hydraulic tests

International Nuclear Information System (INIS)

Mohr, C.L.; Rausch, W.N.; Hesson, G.M.

1981-07-01

The LOCA Simulation Program in the NRU reactor is the first set of experiments to provide data on the behavior of full-length, nuclear-heated PWR fuel bundles during the heatup, reflood, and quench phases of a loss-of-coolant accident (LOCA). This paper compares the temperature time histories of 4 experimental test cases with 4 computer codes: CE-THERM, FRAP-T5, GT3-FLECHT, and TRUMP-FLECHT. The preliminary comparisons between prediction and experiment show that the state-of-the art fuel codes have large uncertainties and are not necessarily conservative in predicting peak temperatures, turn around times, and bundle quench times

Study of volume recombination and radiation opacity effects in Alcator C-Mod

International Nuclear Information System (INIS)

Terry, J.L.; Lipschultz, B.; Pigarov, A.Y.; Boswell, C.; Krasheninnikov, S.I.; LaBombard, B.; Pappas, D.A.

1998-01-01

Observations of significant volume recombination within the Alcator C-Mod divertor plasma and in the edge plasma (MARFE) are described. The recombination occurs in regions where T e approx-lt 1 eV and n e approx-gt 1x10 21 m -3 . The determinations of the recombination rates are made by measuring the D 0 Lyman and/or Balmer spectra and by using a collisional radiative model describing the level populations, ionization and recombination of D 0 . In regions of strong recombination the upper levels (n approx-gt 4) populations are close to those determined by Saha-Boltzmann distribution and are independent of the ground state density. Thus the intensities of lines from these levels are related to the recombination rate, and curves determining the number of open-quote recombinations per photon close-quote are calculated. Ly β line emission is shown to be trapped in some cases, meaning that Ly α can be strongly trapped. Since opacity affects the recombination rates, the effects of the trapping of Ly α,β photons on the open-quote recombinations per photon close-quote curves are calculated and considered in the recombination rate determinations. Total recombination rates in the detached divertor plasma and in MARFEs located at the periphery of the main plasma are determined. Recombination can be a significant sink for ions. copyright 1998 American Institute of Physics

Plant phospholipase C family: Regulation and functional role in lipid signaling.

Science.gov (United States)

Singh, Amarjeet; Bhatnagar, Nikita; Pandey, Amita; Pandey, Girdhar K

2015-08-01

Phospholipase C (PLC), a major membrane phospholipid hydrolyzing enzyme generates signaling messengers such as diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) in animals, and their phosphorylated forms such as phosphatidic acid (PA) and inositol hexakisphosphate (IP6) are thought to regulate various cellular processes in plants. Based on substrate specificity, plant PLC family is sub-divided into phosphatidylinositol-PLC (PI-PLC) and phosphatidylcholine-PLC (PC-PLC) groups. The activity of plant PLCs is regulated by various factors and the major ones include, Ca(2+) concentration, phospholipid substrate, post-translational modifications and interacting proteins. Most of the PLC members have been localized at the plasma membrane, suited for their function of membrane lipid hydrolysis. Several PLC members have been implicated in various cellular processes and signaling networks, triggered in response to a number of environmental cues and developmental events in different plant species, which makes them potential candidates for genetically engineering the crop plants for stress tolerance and enhancing the crop productivity. In this review article, we are focusing mainly on the plant PLC signaling and regulation, potential cellular and physiological role in different abiotic and biotic stresses, nutrient deficiency, growth and development. Copyright © 2015 Elsevier Ltd. All rights reserved.

How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).

Science.gov (United States)

Kohn, Donald B; Gaspar, H Bobby

2017-05-01

Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with more frequent early diagnosis due to implementation of newborn screening for SCID. We review the various treatment approaches for ADA SCID including allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen-matched sibling or family member or from a matched unrelated donor or a haplo-identical donor, autologous HSCT with gene correction of the hematopoietic stem cells (gene therapy-GT), and enzyme replacement therapy (ERT) with polyethylene glycol-conjugated adenosine deaminase. Based on growing evidence of safety and efficacy from GT, we propose a treatment algorithm for patients with ADA SCID that recommends HSCT from a matched family donor, when available, as a first choice, followed by GT as the next option, with allogeneic HSCT from an unrelated or haplo-identical donor or long-term ERT as other options.

Global Carbon Budget 2015

Science.gov (United States)

Le Quéré, C.; Moriarty, R.; Andrew, R. M.; Canadell, J. G.; Sitch, S.; Korsbakken, J. I.; Friedlingstein, P.; Peters, G. P.; Andres, R. J.; Boden, T. A.; Houghton, R. A.; House, J. I.; Keeling, R. F.; Tans, P.; Arneth, A.; Bakker, D. C. E.; Barbero, L.; Bopp, L.; Chang, J.; Chevallier, F.; Chini, L. P.; Ciais, P.; Fader, M.; Feely, R. A.; Gkritzalis, T.; Harris, I.; Hauck, J.; Ilyina, T.; Jain, A. K.; Kato, E.; Kitidis, V.; Klein Goldewijk, K.; Koven, C.; Landschützer, P.; Lauvset, S. K.; Lefèvre, N.; Lenton, A.; Lima, I. D.; Metzl, N.; Millero, F.; Munro, D. R.; Murata, A.; Nabel, J. E. M. S.; Nakaoka, S.; Nojiri, Y.; O'Brien, K.; Olsen, A.; Ono, T.; Pérez, F. F.; Pfeil, B.; Pierrot, D.; Poulter, B.; Rehder, G.; Rödenbeck, C.; Saito, S.; Schuster, U.; Schwinger, J.; Séférian, R.; Steinhoff, T.; Stocker, B. D.; Sutton, A. J.; Takahashi, T.; Tilbrook, B.; van der Laan-Luijkx, I. T.; van der Werf, G. R.; van Heuven, S.; Vandemark, D.; Viovy, N.; Wiltshire, A.; Zaehle, S.; Zeng, N.

2015-12-01

carbon budget. For the last decade available (2005-2014), EFF was 9.0 ± 0.5 GtC yr-1, ELUC was 0.9 ± 0.5 GtC yr-1, GATM was 4.4 ± 0.1 GtC yr-1, SOCEAN was 2.6 ± 0.5 GtC yr-1, and SLAND was 3.0 ± 0.8 GtC yr-1. For the year 2014 alone, EFF grew to 9.8 ± 0.5 GtC yr-1, 0.6 % above 2013, continuing the growth trend in these emissions, albeit at a slower rate compared to the average growth of 2.2 % yr-1 that took place during 2005-2014. Also, for 2014, ELUC was 1.1 ± 0.5 GtC yr-1, GATM was 3.9 ± 0.2 GtC yr-1, SOCEAN was 2.9 ± 0.5 GtC yr-1, and SLAND was 4.1 ± 0.9 GtC yr-1. GATM was lower in 2014 compared to the past decade (2005-2014), reflecting a larger SLAND for that year. The global atmospheric CO2 concentration reached 397.15 ± 0.10 ppm averaged over 2014. For 2015, preliminary data indicate that the growth in EFF will be near or slightly below zero, with a projection of -0.6 [range of -1.6 to +0.5] %, based on national emissions projections for China and the USA, and projections of gross domestic product corrected for recent changes in the carbon intensity of the global economy for the rest of the world. From this projection of EFF and assumed constant ELUC for 2015, cumulative emissions of CO2 will reach about 555 ± 55 GtC (2035 ± 205 GtCO2) for 1870-2015, about 75 % from EFF and 25 % from ELUC. This living data update documents changes in the methods and data sets used in this new carbon budget compared with previous publications of this data set (Le Quéré et al., 2015, 2014, 2013). All observations presented here can be downloaded from the Carbon Dioxide Information Analysis Center (doi:10.3334/CDIAC/GCP_2015).

Global Carbon Budget 2016

Science.gov (United States)

Quéré, Corinne Le; Andrew, Robbie M.; Canadell, Josep G.; Sitch, Stephen; Korsbakken, Jan Ivar; Peters, Glen P.; Manning, Andrew C.; Boden, Thomas A.; Tans, Pieter P.; Houghton, Richard A.;

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

Science.gov (United States)

Giannoccaro, Maria Pia; Bartoletti-Stella, Anna; Piras, Silvia; Casalena, Alfonsina; Oppi, Federico; Ambrosetto, Giovanni; Montagna, Pasquale; Liguori, Rocco; Parchi, Piero; Capellari, Sabina

2018-01-01

In 1969, Dazzi and Finizio reported the second observation of frontotemporal dementia (FTD) - amyotrophic lateral sclerosis (ALS) association in a large Italian kindred affected by an autosomal dominant form of ALS with high penetrance, frequent bulbar onset, and frequent cognitive decline. To expand the original characterization of this family and report the link with the C9orf72 repeat expansion (RE). We followed or reviewed the medical records of thirteen patients belonging to the original family and performed genetic analyses in four individuals. Eight patients presented with ALS, four with FTD, and one with schizophrenia. The C9orf72 RE was found in three patients but not in the healthy survivor. Additionally, we found a novel possible pathogenic variant in the ITM2B gene in one patient with a complex phenotype, associating movement disorders, psychiatric and cognitive features, deafness, and optic atrophy. The neuropathological examination of this patient did not show the classical features of ITM2B mutation related dementias suggesting that the putative pathogenic mechanism does not involve cellular mislocalization of the protein or the formation of amyloid plaques. We showed that the original Italian pedigree described with FTD/ALS carries the C9orf72 RE. Moreover, the finding of an additional mutation in another dementia causing gene in a patient with a more complex phenotype suggests a possible role of genetic modifiers in the disease. Together with other reports showing the coexistence of mutations in multiple ALS/FTD causative genes in the same family, our study supports an oligogenic etiology of ALS/FTD.

DNA polymorphisms in the Sahiwal breed of Zebu cattle revealed by synthetic oligonucleotide probes

International Nuclear Information System (INIS)

Shashikanth; Yadav, B.R.

2005-01-01

Genomic DNA of 15 randomly selected unrelated animals and from two sire families (11 animals) of the Sahiwal breed of Zebu cattle were investigated. Four oligonucleotide probes - (GTG) 5 , (TCC) 5 , (GT) 8 and (GT) 12 - were used on genomic DNA digested with restriction enzymes AluI, HinfI, MboI, EcoRI and HaeIII in different combinations. All four probes produced multiloci fingerprints with differing levels of polymorphisms. Total bands and shared bands in the fingerprints of each individual were in the range of 2.5 to 23.0 KB. Band number ranged from 9 to 17, with 0.48 average band sharing. Probes (GT) 8 , (GT) 12 and (TCC) 5 produced fingerprinting patterns of medium to low polymorphism, whereas probe (GTG) 5 produced highly polymorphic patterns. Probe (GTG) 5 in combination with the HaeIII enzyme was highly polymorphic with a heterozygosity level of 0.85, followed by (GT) 8 , (TCC) 5 and (GT) 12 with heterozygosity levels of 0.70, 0.65 and 0.30, respectively. Probe GTG 5 or its complementary sequence CAC 5 produced highly polymorphic fingerprints, indicating that the probe can be used for analysing population structure, parentage verification and identifying loci controlling quantitative traits and fertility status. (author)

Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.

Science.gov (United States)

Prasad, M K; Laouina, S; El Alloussi, M; Dollfus, H; Bloch-Zupan, A

2016-12-01

Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hypoplastic AI in this family. This study highlights the phenotypic and genotypic heterogeneity of AI that can exist even within a single consanguineous family. Furthermore, the identification of novel mutations in COL17A1 and C4orf26 and their correlation with distinct AI phenotypes can contribute to a better understanding of the pathophysiology of AI and the contribution of these genes to amelogenesis. © International & American Associations for Dental Research 2016.

Flexible treatment of gestational diabetes modulated on ultrasound evaluation of intrauterine growth: a controlled randomized clinical trial.

Science.gov (United States)

Bonomo, M; Cetin, I; Pisoni, M P; Faden, D; Mion, E; Taricco, E; Nobile de Santis, M; Radaelli, T; Motta, G; Costa, M; Solerte, L; Morabito, A

2004-06-01

In order to prevent abnormalities of fetal growth still characterizing pregnancies complicated by Gestational Diabetes (GDM), in the present study we evaluated a therapeutic strategy for GDM based on ultrasound (US) measurement of fetal insulin-sensitive tissues. All GDM women diagnosed before 28th week immediately started diet and self-monitoring of blood glucose; after 2 weeks they were randomized to conventional (C) or modified (M) management. In C the glycemic target (GT) was fixed at 90 fasting/120 post-prandial mg/dl; in M GT varied, according to US measurement of the Abdominal Circumference (AC) centile performed every 2 weeks: 80/100 if AC > or =75th, 100/140 if AC or =75th c. Mean metabolic data were similar in the 2 groups, but in M a tightly-optimized subgroup, resulting from the lowering of GT due to AC > or =75th, coexisted with a less-controlled one, whose higher GT was justified by ACgrowth, with clear advantages on global pregnancy outcome.

Corporate Governance Provisions, Family Involvement, and Firm Performance in Publicly Traded Family Firms

Directory of Open Access Journals (Sweden)

Esra Memili

2015-07-01

Full Text Available This study examines the moderation effects of corporate governance provisions on the link between family involvement (i.e., family ownership and family management in publicly-traded firms and firm performance by drawing upon agency theory, with a focus on principal-principal agency issues, and the extant family governance literature. We develop and test the hypotheses on 386 of the S&P 500 firms longitudinally. Findings support the hypotheses suggesting the moderation effects of the use of provisions (a protecting controlling owners in terms of their sustainability of controlling status, and (b protecting management legally on the inverted U-shaped relationship between family ownership and firm performance. We also found support for the moderation effects of provisions (c protecting controlling owners in terms of their voting rights, (d protecting noncontrolling owners, and (e protecting management monetarily on the inverted U-shaped relationship between family management and firm performance. By this, our study provides empirical support for the principal-principal agency perspective on the corporate governance in publicly-traded family firms. As such, it suggests new avenues of research for both the corporate governance literature, as well as for the theory of the family firm. Our study also offers insights to policy directed toward monitoring the actions of large shareholders such as family and enhancing the overall shareholder value in publicly-traded family firms.

STAT4 rs7574865 G/T polymorphism is associated with rheumatoid arthritis and disease activity, but not with anti-CCP antibody levels in a Mexican population.

Science.gov (United States)

Durán-Avelar, Ma de Jesús; Vibanco-Pérez, Norberto; Hernández-Pacheco, Raquel Rocío; Castro-Zambrano, América Del Carmen; Ortiz-Martínez, Liliana; Zambrano-Zaragoza, José Francisco

2016-12-01

Rheumatoid arthritis (RA) is a systemic autoimmune disease in whose etiology genetic factors are known to play an important role. Among the genes associated with RA, STAT4 could be an important factor in conducting helper T cells toward the pro-inflammatory Th1 and Th17 lineages. The aim of this study is to determine the association of the STAT4 polymorphism rs7574865 with RA, disease activity, and anti-cyclic citrullinated peptide (CCP) antibody levels in a Mexican population. Genotyping was carried out using the Taqman® system from Applied Biosystems in 140 patients with RA and 150 healthy subjects. Disease activity was evaluated by a rheumatologist using the DAS28 and Spanish-HAQ-DI instruments. Anti-CCP levels were determined by ELISA. Associations of the genotypes of rs7574865 with DAS28, HAQ, and anti-CCP antibody levels with RA were determined. Findings showed that the GT and TT genotypes and the T allele from rs7574865 were all associated as risk factors for RA, independently of their anti-CCP status. An association with moderate-to-high disease activity (DAS28 ≥ 3.2) was also found. Additionally, patients with the GT or TT genotypes showed lower HAQ values than those who carried the GG genotype. No differences in anti-CCP antibody levels or DAS28 and genotypes were found. This work supports the association of the STAT4 rs7574865 polymorphism with RA and disease activity, but not with anti-CCP antibody levels in a Mexican population.

Revalidation and genetic characterization of new members of Group C (Orthobunyavirus genus, Peribunyaviridae family) isolated in the Americas.

Science.gov (United States)

Nunes, Márcio Roberto Teixeira; de Souza, William Marciel; Acrani, Gustavo Olszanski; Cardoso, Jedson Ferreira; da Silva, Sandro Patroca; Badra, Soraya Jabur; Figueiredo, Luiz Tadeu Moraes; Vasconcelos, Pedro Fernando da Costa

2018-01-01

Group C serogroup includes members of the Orthobunyavirus genus (family Peribunyaviridae) and comprises 15 arboviruses that can be associated with febrile illness in humans. Although previous studies described the genome characterization of Group C orthobunyavirus, there is a gap in genomic information about the other viruses in this group. Therefore, in this study, complete genomes of members of Group C serogroup were sequenced or re-sequenced and used for genetic characterization, as well as to understand their phylogenetic and evolutionary aspects. Thus, our study reported the genomes of three new members in Group C virus (Apeu strain BeAn848, Itaqui strain BeAn12797 and Nepuyo strain BeAn10709), as well as re-sequencing of original strains of five members: Caraparu (strain BeAn3994), Madrid (strain BT4075), Murucutu (strain BeAn974), Oriboca (strain BeAn17), and Marituba (strain BeAn15). These viruses presented a typical genomic organization related to members of the Orthobunyavirus genus. Interestingly, all viruses of this serogroup showed an open reading frame (ORF) that encodes the putative nonstructural NSs protein that precedes the nucleoprotein ORF, an unprecedented fact in Group C virus. Also, we confirmed the presence of natural reassortment events. This study expands the genomic information of Group C viruses, as well as revalidates the genomic organization of viruses that were previously reported.

Crystal structures of the Erp protein family members ErpP and ErpC from Borrelia burgdorferi reveal the reason for different affinities for complement regulator factor H.

Science.gov (United States)

Brangulis, Kalvis; Petrovskis, Ivars; Kazaks, Andris; Akopjana, Inara; Tars, Kaspars

2015-05-01

Borrelia burgdorferi is the causative agent of Lyme disease, which can be acquired after the bite of an infected Ixodes tick. As a strategy to resist the innate immunity and to successfully spread and proliferate, B. burgdorferi expresses a set of outer membrane proteins that are capable of binding complement regulator factor H (CFH), factor H-like protein 1 (CFHL-1) and factor H-related proteins (CFHR) to avoid complement-mediated killing. B. burgdorferi B31 contains three proteins that belong to the Erp (OspE/F-related) protein family and are capable of binding CFH and some CFHRs, namely ErpA, ErpC and ErpP. We have determined the crystal structure of ErpP at 2.53Å resolution and the crystal structure of ErpC at 2.15Å resolution. Recently, the crystal structure of the Erp family member OspE from B. burgdorferi N40 was determined in complex with CFH domains 19-20, revealing the residues involved in the complex formation. Despite the high sequence conservation between ErpA, ErpC, ErpP and the homologous protein OspE (78-80%), the affinity for CFH and CFHRs differs markedly among the Erp family members, suggesting that ErpC may bind only CFHRs but not CFH. A comparison of the binding site in OspE with those of ErpC and ErpP revealed that the extended loop region, which is only observed in the potential binding site of ErpC, plays an important role by preventing the binding of CFH. These results can explain the inability of ErpC to bind CFH, whereas ErpP and ErpA still possess the ability to bind CFH. Copyright © 2015 Elsevier B.V. All rights reserved.