WorldWideScience
1

Lnk constrains myeloproliferative diseases in mice  

UK PubMed Central (United Kingdom)

Hematopoietic stem and progenitor cell (HSPC) expansion is regulated by intrinsic signaling pathways activated by cytokines. The intracellular kinase JAK2 plays an essential role in cytokine signaling,...Full Text Available

2010-06-01

2

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias  

UK PubMed Central (United Kingdom)

BackgroundGene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.MethodsWe...Full Text Available

3

Missense mutations in the growth hormone receptor dimerization region in Laron syndrome  

Energy Technology Data Exchange (ETDEWEB)

Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the ...

1994-09-01

4

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects  

UK PubMed Central (United Kingdom)

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP...Full Text Available

2010-01-01

5

A cytosine methyltransferase homologue is essential for repeat-induced point mutation in Neurospora crassa  

UK PubMed Central (United Kingdom)

During sexual development, Neurospora crassa inactivates genes in duplicated DNA segments by a hypermutation process, repeat-induced point mutation (RIP). RIP introduces C:G to T:A...Full Text Available

2002-06-25

6

Lnk controls mouse hematopoietic stem cell self-renewal and quiescence through direct interactions with JAK2  

UK PubMed Central (United Kingdom)

In addition to its role in megakaryocyte production, signaling initiated by thrombopoietin (TPO) activation of its receptor, myeloproliferative leukemia virus protooncogene (c-Mpl, or Mpl), controls...Full Text Available

2008-08-01

7

The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template  

UK PubMed Central (United Kingdom)

Mutations in SOX9, a gene essential for chondrocyte differentiation cause the human disease campomelic dysplasia (CD). To understand how SOX9 activates transcription, we characterized...Full Text Available

2010-10-01

8

Identification of a new gene, molR, essential for utilization of molybdate by Escherichia coli.  

UK PubMed Central (United Kingdom)

A mutation in a new gene, molR, prevented the synthesis in Escherichia coli of molybdoenzymes, including the two formate dehydrogenase isoenzymes, nitrate reductase and trimethylamine-N-oxide reductase....Full Text Available

1990-04-01

9

A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency  

UK PubMed Central (United Kingdom)

Gamma interferon (IFN-γ) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-γ receptor ligand-binding chain...Full Text Available

2001-01-01

10

1,3-Butadiene: linking metabolism, dosimetry, and mutation induction.  

UK PubMed Central (United Kingdom)

There is increasing concern for the potential adverse health effects of human exposures to chemical mixtures. To better understand the complex interactions of chemicals within a mixture, it is essential...Full Text Available

1994-11-01

11

Mutational Analysis of the Carboxy-Terminal (YGX)4 Repeat Domain of CpsD, an Autophosphorylating Tyrosine Kinase Required for Capsule Biosynthesis in Streptococcus pneumoniae  

UK PubMed Central (United Kingdom)

In Streptococcus pneumoniae, CpsB, CpsC, and CpsD are essential for encapsulation, and mutants containing deletions of cpsB, cpsC, or cpsD...Full Text Available

2003-05-01

12

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels  

UK PubMed Central (United Kingdom)

Genome sequences are essential tools for comparative and mutational analyses. Here we present the short read sequence of mouse chromosome 17 from the Mus musculus domesticus derived...Full Text Available

2009-01-01

13

Mutations at the cysteine codons of the recA gene of Escherichia coli  

International Nuclear Information System (INIS)

Each of the three cysteine residues in the Escherichia coli RecA protein was replaced with a number of other amino acids. To do this, each cysteine codon was first converted to a chain-terminating amber codon by oligonucleotide-directed mutagenesis. These amber mutants were then either assayed for function in different suppressor strains or reverted by a second round of mutagenesis with oligonucleotides that had random sequences at the amber codon. Thirty-three different amino acid substitutions were obtained. Mutants were tested for three functions of RecA: survival following UV irradiation, homologous recombination, and induction of the SOS response. It was found that although none of the cysteines is essential for activity, mutations at each of these positions can affect one or more of the activities of RecA, depending on the particular amino acid substitution. In addition, the cysteine at position 116 appears to be involved in the ...

14

Development of radiological emergency preparedness technology  

Energy Technology Data Exchange (ETDEWEB)

Large-scale field tracer experiments have been conducted on Ulchin, Wolsung and Daeduk sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear sites. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. both processes, of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of Biological research for the radiation protection had contained the search of biological microanalytic methods for assessing the health effect by {gamma}-radiation and toxic ...

2000-04-01

15

SLC9A9 mutations, gene expression, and protein-protein interactions in rat models of attention-deficit/hyperactivity disorder  

British Library Electronic Table of Contents (United Kingdom)

Abstract SLC9A9 (solute carrier family 9, member 9, also known as Na+/H+ exchanger member (NHE9)) is a membrane protein that regulates the luminal pH of the recycling endosome, an essential organelle for synaptic transmission and plasticity. SLC9A9 has been implicated in human attention deficit hyperactivity disorder (ADHD) and in rat studies of hyperactivity. We examined the SLC9A9 gene sequence and expression profile in prefrontal cortex, dorsal striatum and hippocampus in two genetic rat models of ADHD. We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP). We observed an age-dependent abnormal expression of SLC9A9 in brains of this inattentive model and in the Spontaneous Hypertensi...

2011-01-01

16

Sodium-driven motor of the polar flagellum in marine bacteria Vibrio  

British Library Electronic Table of Contents (United Kingdom)

The Na+-driven bacterial flagellar motor is a molecular machine powered by an electrochemical potential gradient of sodium ions across the cytoplasmic membrane. The marine bacterium Vibrio alginolyticus has a single polar flagellum that enables it to swim in liquid. The flagellar motor contains a basal body and a stator complexes, which are composed of several proteins. PomA, PomB, MotX, and MotY are thought to be essential components of the stator that are required to generate the torque of the rotation. Several mutations have been investigated to understand the characteristics and function of the ion channel in the stator and the mechanism of its assembly around the rotor to complete the motor. In this review, we summarize recent results of the Na+-driven motor in the polar flagellum of ...

2011-01-01

17

Metabolic engineering of carotenoid accumulation by creating a metabolic sink  

British Library Electronic Table of Contents (United Kingdom)

Carotenoids are highly beneficial for human nutrition and health because they provide essential nutrients and important antioxidants in our diets. However, many food crops, especially the major staple crops contain only trace to low amounts of carotenoids. Although significant progress has been made in developing food crops rich in carotenoids by altering the expression of carotenoid biosynthetic genes, in many cases it has proved to be difficult to reach the desired levels of carotenoid enrichment. The recent identification and characterization of a novel gene mutation in cauliflower reveals that creating a metabolic sink to sequester carotenoids is an important mechanism to control carotenoid accumulation in plants. The successful demonstration of increased carotenoid accumulation in ass...

2007-01-01

20

Essential Mathematics and Statistics for Science  

CERN Document Server

Essential Mathematics and Statistics for Science

2009-01-01

21

Mutation breeding in kalmia juvenile trees derived from shoot tip cultare and kobus seedlings  

International Nuclear Information System (INIS)

Juvenile trees of kalmia derived from shoot tip culture, and seedlings of kobus were irradiated with #gamma#-rays. In kalmia, two mutation lines were obtained which had narrowlong leaves. In kobus two mutation lines were obtained. One mutation line has flowers with 7 to 13 petals. Another mutation line has yellow-green variegated leaves. (author).

22

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients  

UK PubMed Central (United Kingdom)

BackgroundFamilial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations...Full Text Available

23

Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia  

UK PubMed Central (United Kingdom)

Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied...Full Text Available

2010-01-01

24

mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese  

British Library Electronic Table of Contents (United Kingdom)

Mutation C1494T in mitochondrial 12S rRNA gene was recently reported in two large Chinese families with aminoglycoside-induced and nonsyndromic hearing loss (AINHL) and was claimed to be pathogenic. This mutation, however, was first reported in a sample from central China in our previous study that was aimed to reconstruct East Asian mtDNA phylogeny. All these three mtDNAs formed a subclade defined by mutation C1494T in mtDNA haplogroup A. It thus seems that mutation C1494T is a haplogroup A-associated mutation and this matrilineal background may contribute a high risk for the penetrance of mutation C1494T in Chinese with AINHL. To test this hypothesis, we first genotyped mutation C1494T in 553 unrelated individuals from three regional Chinese populations and performed an extensive search ...

2006-01-01

25

The early phase change Gene in Maize  

UK PubMed Central (United Kingdom)

Recessive mutations of the early phase change (epc) gene in maize affect several aspects of plant development. These mutations were identified initially because of...Full Text Available

2002-01-01

26

Cloning of the neurodegeneration gene drop-dead and characterization of additional phenotypes of its mutation  

UK PubMed Central (United Kingdom)

Mutations in the Drosophila gene drop-dead (drd) result in early adult lethality and neurodegeneration, but the molecular identity of the drd...Full Text Available

2008-01-01

27

A framework for evolutionary systems biology  

UK PubMed Central (United Kingdom)

BackgroundMany difficult problems in evolutionary genomics are related to mutations that have weak effects on fitness, as the consequences of mutations with large effects are often...Full Text Available

28

A single amino acid substitution results in a retinoblastoma protein defective in phosphorylation and oncoprotein binding  

International Nuclear Information System (INIS)

The authors have previously identified a small-cell lung cancer cell line (NCI-H209) that expresses an aberrant, underphosphorylated form of the retinoblastoma protein RB1. Molecular analysis of RB1 mRNA from this cell line revealed a single point mutation within exon 21 that resulted in a nonconservative amino acid substitution (cysteine to phenylalanine) at codon 706. Stable expression of this mutant RB1 cDNA in a human cell line lacking endogenous RB1 demonstrated that this amino acid change was sufficient to inhibit phosphorylation. In addition, this cysteine-to-phenylalanine substitution also resulted in loss of RB1 binding to the simian virus 40 large tumor and adenovirus E1A transforming proteins. These results confirm the importance of exon 21 coding sequences and suggest that the cysteine residue at codon 706 may play a role in achieving a specific protein conformation essential for protein-protein interactions.

29

The development of in vitro mutagenicity testing systems using T-lymphocytes  

Energy Technology Data Exchange (ETDEWEB)

This annual report describes progress in studies on hprt mutations induced by radon or Indium 111 along with the corresponding mutation frequency, cloning and molecular spectra in human T-lymphocytes. Parallel studies on the mutation susceptibility between individuals is being investigated by hprt mutation studies on ataxia telangiectasia and xeroderma pigmentosum.

1993-05-01

31

Mutation breeding in leguminous crop plants  

Energy Technology Data Exchange (ETDEWEB)

Since it was introduced in the early 1940's, mutation breeding has been tested on many crops as modern plant breeding. Until now, more than seven hundred varieties have been developed by means of induced mutation, and many of them officially released and approved for registration. Hundreds of papers report the results of mutation breeding, and the characteristics of induced mutation in different kinds of crops were discussed for review purposes (Blixt and Gottschalk 1975, Gottschalk and Wolff 1983). Considering the results already obtained, it can be concluded that the kinds of induced mutation and their utilization vary from crop to crop. This paper summarizes and discusses the mutation characteristics and kinds on the induced mutants of leguminous plants that have been released.

1988-03-01

32

Induced plasmon mutations affecting the growth habit of peanuts, A. hypogaea L  

International Nuclear Information System (INIS)

The effectiveness of the acridines ethidium bromide (EB) and acriflavine in inducing plasmon mutations was compared with the alkylating agents ethyl methanesulphonate (EMS) and diethyl sulphate and to #gamma#-rays. The growth habit (trailing versus bunch) of peanuts (A. hypogaea), controlled by genic-cytoplasmic interactions, was utilized. Breeding tests distinguishing nuclear from plasmon mutations were developed and are described in detail. Plasmon mutations were induced, but there were differences in mutation yields between the cultivars and the mutagens. (Auth.).

1978-01-01

34

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.  

UK PubMed Central (United Kingdom)

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations...Full Text Available

1993-09-01

35

Tumor-derived extracellular mutations of PTPRT/PTP? are deficient in cell adhesion  

UK PubMed Central (United Kingdom)

Receptor protein tyrosine phosphatase T (PTPRT/PTPρ) is frequently mutated in human cancers including colon, lung, gastric and skin cancers. More than half of the identified tumor-derived...Full Text Available

2008-07-01

36

Transcription induces strand-specific mutations at the 5? end of human genes  

UK PubMed Central (United Kingdom)

A regional analysis of nucleotide substitution rates along human genes and their flanking regions allows us to quantify the effect of mutational mechanisms associated with transcription in germ line...Full Text Available

2008-08-01

37

Rapid detection of epidermal growth factor receptor mutations with multiplex PCR and primer extension in lung cancer  

UK PubMed Central (United Kingdom)

Epidermal growth factor receptor (EGFR) kinase domain mutations hyperactivate the kinase and confer kinase addiction of the non-small-cell lung cancer (NSCLC) tumor...Full Text Available

38

Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature  

UK PubMed Central (United Kingdom)

PurposeTo report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).MethodsFull...Full Text Available

39

Mutational analysis of bacteriophage lambda lysis gene S.  

UK PubMed Central (United Kingdom)

A plasmid carrying the bacteriophage lambda lysis genes under lac control was subjected to hydroxylamine mutagenesis, and mutations eliminating the host lethality of the S gene were selected. DNA sequence...Full Text Available

1986-09-01

40

Mutation analysis of the ferritin L-chain gene in age-related cataract  

UK PubMed Central (United Kingdom)

PurposeTo investigate whether acquired somatic mutations in the iron response element of the ferritin L-chain gene account for the age-related cataract.MethodsThe...Full Text Available

41

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray  

UK PubMed Central (United Kingdom)

PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available

42

Incorporation of dUTP does not mediate mutation of A:T base pairs in Ig genes in vivo  

UK PubMed Central (United Kingdom)

Activation-induced cytidine deaminase (AID) protein initiates Ig gene mutation by deaminating cytosines, converting them into uracils. Excision of AID-induced uracils by uracil-N-glycosylase...Full Text Available

2010-12-01

43

Detection of TP53 mutation, loss of heterozygosity and DNA content in fine-needle aspirates of breast carcinoma.  

UK PubMed Central (United Kingdom)

Recent preclinical and clinical data suggest that TP53 status and TP53 mutations may be important in determining tumour aggressiveness and therapy response. In this study we investigate the feasibility...Full Text Available

1998-01-01

44

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations  

UK PubMed Central (United Kingdom)

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase...Full Text Available

2011-01-04

45

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability  

UK PubMed Central (United Kingdom)

PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available

46

Analysis of forward mutations induced by N-methyl-N'-nitro-N-nitrosoguanidine in the bacteriophage P22 mnt repressor gene  

Energy Technology Data Exchange (ETDEWEB)

We describe the isolation and genetic characterization of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG)-induced mutations in the phage P22 mnt repressor gene cloned in plasmid pBR322. Mutations in the mnt repressor gene or its operator on this plasmid, pPY98, confer a tetracycline resistance phenotype, whereas the wild-type plasmid confers tetracycline sensitivity. Cells carrying pPY98 were briefly exposed to MNNG to give 20 to 40% survival and a 50- to 100-fold increase in tetracycline-resistant cells. DNA sequence analysis showed that 29 to 30 MNNG-induced mutations were GC-to-AT transitions and one was an AT-to-GC transition. About 80% of the mutations are in three hotspots. This mutation spectrum is consistent with the proposed mechanism of mutagenic action of MNNG, which involves mispairing of an alkylated base, O/sup 6/-methylguanine. The mnt gene may be a useful target ...

1986-04-01

47

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations  

UK PubMed Central (United Kingdom)

BackgroundSLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause...Full Text Available

48

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies  

UK PubMed Central (United Kingdom)

BackgroundThe commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable...Full Text Available

49

A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells  

UK PubMed Central (United Kingdom)

Frontotemporal lobar degeneration is a progressive neurodegenerative syndrome that is the second most common cause of early-onset dementia. Mutations in the progranulin gene are a major cause of familial...Full Text Available

2011-03-15

50

Detection of Mitochondrial DNA Mutations in Mammary ...  

Science.gov (United States)

... Loss of Heterozygosity in Normal Breast Epithelial Tissue and Benign Breast Lesions in BRCA1/2 Carriers with Breast Cancer. ...

2004-09-01

51

Occurrence of mutations in the epidermal growth factor receptor gene in X-ray-induced rat lung tumors  

International Nuclear Information System (INIS)

Epidermal growth factor receptor (EGFR) gene alterations have been found in human lung cancers. However, there is no information on the factors inducing EGFR mutations. In rodents, K-ras mutations are frequently found in many lung carcinogenesis models, but hitherto, Egfr mutations have not been reported. Their presence was therefore investigated in representative lung carcinogenesis models with 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-nitrosobis(2-hydroxypropyl)amine (BHP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MelQx) and ethyl carbamate (urethane), as well as X-ray irradiation. With the chemical carcinogenesis models, no mutations were detected in Egfr, which is in clear contrast to the high rates observed in either codon 12 or 61 of K-ras (21/23 of the lung tumors induced with NNK, 4/5 with MelQx, 1/4 with urethane and 7/18 with BHP). However, in the X-ray-induced lung tumors, ...

2008-02-01

52

KMeyeDB: a graphical database of mutations in genes that cause eye diseases  

British Library Electronic Table of Contents (United Kingdom)

KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...

2010-01-01

53

Structural Insights into the Interaction of the Evolutionarily Conserved ZPR1 Domain Tandem with Eukaryotic EF1A, Receptors, and SMN Complexes  

Energy Technology Data Exchange (ETDEWEB)

Eukaryotic genomes encode a zinc finger protein (ZPR1) with tandem ZPR1 domains. In response to growth stimuli, ZPR1 assembles into complexes with eukaryotic translation elongation factor 1A (eEF1A) and the survival motor neurons protein. To gain insight into the structural mechanisms underlying the essential function of ZPR1 in diverse organisms, we determined the crystal structure of a ZPR1 domain tandem and characterized the interaction with eEF1A. The ZPR1 domain consists of an elongation initiation factor 2-like zinc finger and a double-stranded {beta} helix with a helical hairpin insertion. ZPR1 binds preferentially to GDP-bound eEF1A but does not directly influence the kinetics of nucleotide exchange or GTP hydrolysis. However, ZPR1 efficiently displaces the exchange factor eEF1B from preformed nucleotide-free complexes, suggesting that it may function as a negative regulator of eEF1A activation. Structure-based mutational and ...

2007-01-01

54

Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis.  

Science.gov (United States)

Neuronal transcription factors play vital roles in the specification and development of neurons, including dopaminergic (DA) neurons. Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause the resulting intractable and largely untreatable neurological impairment of Lesch-Nyhan disease (LND). The disorder is associated with a defect in basal ganglia DA pathways. The mechanisms connecting the purine metabolic defect and the central nervous system (CNS) phenotype are poorly understood but have been presumed to reflect a developmental defect of DA neurons. We have examined the effect of HPRT deficiency on the differentiation of neurons in the well-established human (NT2) embryonic carcinoma neurogenesis model. We have used a retrovirus expressing a small hairpin RNA (shRNA) to knock down HPRT gene expression and have examined the expression of a number of transcription factors ...

2009-08-11

55

Alterations in heart looping induced by overexpression of the tight junction protein Claudin-1 are dependent on its C-terminal cytoplasmic tail.  

Science.gov (United States)

In vertebrates, the positioning of the internal organs relative to the midline is asymmetric and evolutionarily conserved. A number of molecules have been shown to play critical roles in left-right patterning. Using representational difference analysis to identify genes that are differentially expressed on the left and right sides of the chick embryo, we cloned chick Claudin-1, an integral component of epithelial tight junctions. Here, we demonstrate that retroviral overexpression of Claudin-1, but not Claudin-3, on the right side of the chick embryo between HH stages 4 and 7 randomizes the direction of heart looping. This effect was not observed when Claudin-1 was overexpressed on the left side of the embryo. A small, but reproducible, induction of Nodal expression in the perinodal region on the right side of the embryo was noted in embryos that were injected with Claudin-1 retroviral particles on their right sides. However, no changes in Lefty,Pitx2 or cSnR expression were observed. ...

2006-02-24

56

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene  

DEFF Research Database (Denmark)

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice ...

2010-01-01

58

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A  

British Library Electronic Table of Contents (United Kingdom)

The penetrance of Lebers hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (Pin vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a seconda...

2008-01-01

59

State II Dissociation Element Formation Following Activator Excision in Maize  

UK PubMed Central (United Kingdom)

Active Activator (Ac) elements undergo mutations to become nonautonomous Dissociation (Ds) elements at a low frequency. To understand...Full Text Available

2007-10-01

60

Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells  

UK PubMed Central (United Kingdom)

BackgroundABCA3 transporter (ATP-binding cassette transporter of the A subfamily) is localized to the limiting...Full Text Available

2011-01-01

61

Ras history  

UK PubMed Central (United Kingdom)

Although the roots of Ras sprouted from the rich history of retrovirus research, it was the discovery of mutationally activated RAS genes in human cancer in 1982 that stimulated an...Full Text Available

2010-07-01

62

Prosthetic rehabilitation of hypophosphatasia: a case report  

UK PubMed Central (United Kingdom)

Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline...Full Text Available

63

N-acetoxy-N-2-acetylaminofluorene induced frameshift mutations: a comparison between the DNA modification spectrum and the mutation spectrum  

International Nuclear Information System (INIS)

We describe the analysis of forward mutations induced in the tetracycline resistance gene of the plasmid pBR322 by directing the reaction of the carcinogen N-acetoxy-N-2-acetylaminofluorene (N-AcO-AAF) to a small restriction fragment (BamHI, SalI) that is located in the proximal part of the antibiotic-resistance gene. Mutant plasmids obtained both in wild type and excision repair deficient (uvrA) bacterial cells are compared. Preliminary data showing the distribution of the -AAF adducts along this restriction fragments are discussed in relation to the observed spectrum of mutations. 20 references, 4 figures.

64

Mutations in RNA Binding Protein Gene Cause Familial Dilated Cardiomyopathy  

UK PubMed Central (United Kingdom)

ObjectivesWe sought to identify a novel gene for dilated cardiomyopathy (DCM).BackgroundDCM is a heritable, genetically...Full Text Available

2009-09-01

66

Misfolded Proteins and Retinal Dystrophies  

UK PubMed Central (United Kingdom)

Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death...Full Text Available

2010-01-01

67

MEDICAL FINAL REVIEW MEMORANDUM OF ORIGINAL BLA  

Science.gov (United States)

... The AAT Z mutation involves a single amino acid substitution (glutamine for lysine) at position 342, resulting in abnormal folding and polymerization of the ...

68

Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.  

Science.gov (United States)

Objective:? Primary hyperparathyroidism (HPT) is characterised by autonomous secretion of PTH from enlarged parathyroid glands leading, in most patients, to asymptomatic hypercalcaemia. Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder caused by inactivating mutations in the calcium sensing receptor (CaSR) gene; it is characterised by lifelong and usually asymptomatic hypercalcaemia. Establishing the correct diagnosis is important because surgery can be curative in HPT, but ineffective in FHH. There is overlap in the diagnostic criteria for the two disorders and some patients carrying inactivating mutations in the CaSR gene, which is suggestive of FHH, also have HPT with hyperplastic parathyroid glands or adenomas. Design and Patients:? CaSR gene mutations were analyzed and clinical and biochemical parameters evaluated in 139 consecutive out-patients presenting with hypercalcaemia and suspected ...

2011-03-29

69

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA  

Energy Technology Data Exchange (ETDEWEB)

The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. The authors have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vitro amplified HPRT cDNA. They also demonstrate that the direct DNA sequence analysis can be automated, further simplifying the detection of new mutations at this locus. The mutations include DNA base substitutions, small DNA deletions, a single DNA base insertion, and errors in RNA splicing. The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN.

1989-03-01

70

Genomics of human longevity  

UK PubMed Central (United Kingdom)

In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available

2011-01-12

71

Embryonic Senescence and Laminopathies in a Progeroid Zebrafish Model  

UK PubMed Central (United Kingdom)

BackgroundMutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies....Full Text Available

73

Defective gut function in drop-dead mutant Drosophila  

UK PubMed Central (United Kingdom)

Mutation of the gene drop-dead (drd) causes adult Drosophila to die within 2 weeks of eclosion and is associated with reduced rates of defecation...Full Text Available

2009-09-01

74

Cis-regulatory mutations in human disease  

UK PubMed Central (United Kingdom)

Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant...Full Text Available

2009-07-01

75

Abnormal chromosome repair and risk of developing cancer.  

UK PubMed Central (United Kingdom)

Several scientists have proposed that DNA repair deficiencies and the induction of a mutator phenotype are responsible for the generation of multiple mutagenic alterations in cancer cells. I propose...Full Text Available

1993-10-01

76

AEC syndrome - Genetics Home Reference  

Science.gov (United States)

What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...

2011-10-15

77

A child with hyperferritinemia: Case report  

UK PubMed Central (United Kingdom)

Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated...Full Text Available

78

Lotus (Nelumbo nuficera) flower essential oil increased melanogenesis in normal human melanocytes  

UK PubMed Central (United Kingdom)

In this study, the essential oil from lotus flower extract, including petals and stamens, was assessed with regard to its effects on melanogenesis in human melanocytes. The lotus flower essential oil...Full Text Available

2009-07-31

79

Spontaneous mutations affecting the host range of the B77 strain of avian sarcoma virus involve type-specific changes in the virion envelope antigen.  

UK PubMed Central (United Kingdom)

Previously it was shown that the host-range gene of the Bratislava strain of avain sarcoma virus (B77 virus) spontaneously mutates with a very high rate. The wild-type B77 virus called B77 virus-II,...Full Text Available

1977-01-01

80

Prostaglandin E2 Signals Through PTGER2 to Regulate Sclerostin Expression  

UK PubMed Central (United Kingdom)

The Wnt signaling pathway is a robust regulator of skeletal homeostasis. Gain-of-function mutations promote high bone mass, whereas loss of Lrp5 or Lrp6 co-receptors decrease bone mass. Similarly, mutations...Full Text Available

81

Mutations induced in the hypoxanthine phosphoribosyl transferase gene by three urban air pollutants: acetaldehyde, benzo[a]pyrene diolepoxide, and ethylene oxide.  

UK PubMed Central (United Kingdom)

Provisional mutational spectra at the hypoxanthine phosphoribosyl transferase (HPRT) locus in vitro have been worked out for acetaldehyde (AA) and benzo[a]pyrene diolepoxide (BPDE) in human (T)-lymphocytes...Full Text Available

1994-10-01

82

Interplay of Reverse Transcriptase Inhibitor Therapy and Gag p6 Diversity in HIV Type 1 Subtype G and CRF02_AG  

UK PubMed Central (United Kingdom)

AbstractThe gag p6 region of HIV-1 has various nonsubstitutionary mutations, including insertions, duplications, deletions, and premature stop codons. Studies have linked gag p6 mutations...Full Text Available

2008-09-01

83

Induction and use of sex linked lethal mutations in the pink bollworm  

International Nuclear Information System (INIS)

The sterile insect release technique can often be improved by removal of females before release. Rearing efficiencies can also be increased if removal of the females occurs at early developmental stages. In order to begin to develop genetic sexing strains for the pink bollworm, Pectinophora gossypiella (Saunders), it was necessary to determine the best dosage of radiation for induction of viable sex linked recessive lethal mutations and to see if stocks containing induced sex linked lethals could be maintained in culture. Sex linked recessive lethal mutations can be detected by distorted sex ratios in the progeny of treated adults. However, in the pink bollworm, highly distorted sex ratios are common even in the absence of induced mutations. Therefore, a visible sex linked trait, purple eye, was used as a marker for the untreated X-chromosomes in crosses. Thus, the presence of a recessive sex linked lethal ...

1987-11-16

84

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa  

UK PubMed Central (United Kingdom)

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region...Full Text Available

2010-09-10

85

Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals  

International Nuclear Information System (INIS)

Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had only one allele with ...

86

Effect of UV radiation on the killer phenotype in the wine yeast-saccharomycetes and spontaneous variation of this character  

International Nuclear Information System (INIS)

Spontaneous and ultraviolet-induced changeabilities of wine yeasts from the killer state to sensitive one have been studied. Observed often spontaneous changes of killer and neutral phenotypes under laboratory store conditions as well as high mutation frequency of genetic elements responsible for the killer indication on ultraviolet irradiation testify that often encounterability in nature and in the production of sensitive yeasts is attributed to high frequency of mutation changes of the killer and neutral phenotypes to the sensitive state.

87

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).  

UK PubMed Central (United Kingdom)

We investigated the distribution and expression of mutant mtDNAs carrying the A-to-G mutation at position 8344 in the tRNA(Lys) gene in the skeletal muscle of four patients with myoclonus epilepsy and...Full Text Available

1992-12-01

88

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3)  

UK PubMed Central (United Kingdom)

PurposeTo describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean...Full Text Available

89

Complementation of areA- regulatory gene mutations of Aspergillus nidulans by the heterologous regulatory gene nit-2 of Neurospora crassa.  

UK PubMed Central (United Kingdom)

Loss-of-function mutations in the regulatory gene areA of Aspergillus nidulans prevent the utilization of a wide variety of nitrogen sources. The phenotypes of nit-2 mutants of Neurospora crassa suggest...Full Text Available

1987-06-01

90

Compensation for a Mutated Auxin Biosynthesis Gene of Agrobacterium Ti Plasmid A66 in Nicotiana glutinosa Does Not Result from Increased Auxin Accumulation 1  

UK PubMed Central (United Kingdom)

Nicotiana glutinosa compensated for a mutated tumor-morphology-shooty (tms) (auxin biosynthesis) locus of Agrobacterlum tumefaciens strain A66 and...Full Text Available

1989-04-01

91

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A  

Energy Technology Data Exchange (ETDEWEB)

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed ...

2008-08-25

92

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A  

International Nuclear Information System (INIS)

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate ...

2008-08-25

93

Mutation analysis of KRAS prior to targeted therapy in colorectal cancer: development and evaluation of quality by a European external quality assessment scheme  

British Library Electronic Table of Contents (United Kingdom)

In Europe, the use of anti-EGFR monoclonal antibodies is restricted to Kirsten RAS (KRAS) wild-type colorectal tumors. Information on the KRAS status of the patients tumor is thus key for clinical practice; however, there is little guidance or definition on which KRAS mutations to assess and how to assess them. To ensure the consistency and the quality of KRAS test results in Europe, an interlaboratory control network needs to be set up. This pilot study aimed to identify the variables that need to be assessed in a quality control scheme and to provide a first assessment in a selected set of laboratories. Fourteen different tumor cases were circulated between 13 laboratories by a central laboratory acting as the referent for the mutation status determination. This study illustrated that of...

2011-01-01

94

Mapping of the human cone transducin {alpha}-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease  

Energy Technology Data Exchange (ETDEWEB)

We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.

1995-01-01

95

Computational mouse atlases and their application to automatic assessment of craniofacial dysmorphology caused by the Crouzon mutation Fgfr2C342Y  

British Library Electronic Table of Contents (United Kingdom)

Abstract Crouzon syndrome is characterized by premature fusion of sutures and synchondroses. Recently, the first mouse model of the syndrome was generated, having the mutation Cys342Tyr in Fgfr2c, equivalent to the most common human Crouzon/Pfeiffer syndrome mutation. In this study, a set of micro-computed tomography (CT) scannings of the skulls of wild-type mice and Crouzon mice were analysed with respect to the dysmorphology caused by Crouzon syndrome. A computational craniofacial atlas was built automatically from the set of wild-type mouse micro-CT volumes using (1) affine and (2) non-rigid image registration. Subsequently, the atlas was deformed to match each subject from the two groups of mice. The accuracy of these registrations was measured by a comparison of manually placed landma...

2007-01-01

96

Cell-mediated mutagenesis and cell transformation of mammalian cells by chemical carcinogens. [Rats, hamsters  

Science.gov (United States)

We have developed a cell-mediated mutagenesis assay in which cells with the appropriate markers for mutagenesis are co-cultivated with either lethally irradiated rodent embryonic cells that can metabolize carcinogenic hydrocarbons or with primary rat liver cells that can metabolize chemicals carcinogenic to the liver. During co-cultivation, the reactive metabolites of the procarcinogen appear to be transmitted to the mutable cells and induce mutations in them. Assays of this type make it possible to demonstrate a relationship between carcinogenic potency of the chemicals and their ability to induce mutations in mammalian cells. In addition, by simultaneously comparing the frequencies of transformation and mutation induced in normal diploid hamster cells by benzo(a)pyrene (BP) and one of its metabolites, it is possible to estimate the genetic target size for cell transformation in vitro.

1977-01-01

97

Absence of the A4 peptide in the G4 glycinin subunit of soybean cultivar Enrei is caused by a point mutation in the Gy4 gene  

Scientific Electronic Library Online (English)

Abstract in english Functional properties of soy proteins for food are closely related to the composition of their storage protein subunits. Using base excision sequence scanning (BESS), we show that the absence of the A4 peptide in the G4 glycinin subunit of the soybean (Glycine max L.) cultivar Enrei was caused by the same point mutation in the Gy4 gene as previously reported in the soybean cultivar Raiden. Although the genetic relationship between Raiden and Enrei is not known, the same p (more) oint mutation in their Gy4 genes may indicate that they probably share a related origin. The application of BESS to identify single nucleotide polymorphisms (SNPs) as co-dominant markers for marker-assisted selection (MAS) of a recessive null allele is also discussed.

2005-09-01

98

A miniaturized spatial temperature gradient capillary electrophoresis system with radiative heating and automated sample introduction for DNA mutation detection  

British Library Electronic Table of Contents (United Kingdom)

Abstract A miniaturized spatial temperature gradient CE system with automated sample introduction for DNA mutation detection was established. Continuous electrokinetic sample injection was achieved by combining an automated slotted vial array sample introduction device to the spatial temperature gradient CE system. The temperature gradient was produced by a radiative heating system with a single graphite block heater, and the stability of the temperature gradient was investigated. The temperature variation of each measure point was 0.12 0.21% RSD (n=7) within 6 h. A 14 cm Teflon AF coated silica capillary was used both as the separation channel and as the liquid core waveguide tube of fluorescence signal. Under a temperature gradient from 54.8 to 59.5 C, a low range control mutation standa...

2010-01-01

99

p53 mutation in breast cancer. Correlation with cell kinetics and cell of origin  

UK PubMed Central (United Kingdom)

Aim: Several studies have investigated the expression of the cytokeratins (CKs), vimentin, the epithelial growth factor receptor (EGFR), the oestrogen receptor (ER), and the progesterone...Full Text Available

2002-06-01

100

aHUS caused by complement dysregulation: new therapies on the horizon  

UK PubMed Central (United Kingdom)

Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement...Full Text Available

2011-01-01

101

[Malignant transformation of human fibroblasts by neutrons and by gamma radiation: Relationship to mutations induced  

Energy Technology Data Exchange (ETDEWEB)

A brief overview if provided of selected reports presented at the International Symposium on Molecular Mechanisms of Radiation- and Chemical Carcinogen-Induced Cell Transformation held at Mackinac Island, Michigan on September 19-23, 1993.

1993-12-31

102

Type I Collagen Is a Genetic Modifier of Matrix Metalloproteinase 2 in Murine Skeletal Development  

UK PubMed Central (United Kingdom)

Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available

2007-06-01

103

Tuberous Sclerosis Complex Activity is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner  

UK PubMed Central (United Kingdom)

Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in...Full Text Available

2009-05-06

104

Transposable elements are enriched within or in close proximity to xenobiotic-metabolizing cytochrome P450 genes  

UK PubMed Central (United Kingdom)

BackgroundTransposons, i.e. transposable elements (TEs), are the major internal spontaneous mutation agents for the variability of eukaryotic genomes. To address the general issue...Full Text Available

105

The mitochondrial p53 pathway  

UK PubMed Central (United Kingdom)

p53 is one of the most mutated tumor suppressors in human cancers and as such has been intensively studied for a long time. p53 is a major orchestrator of the cellular response to a broad array...Full Text Available

2009-05-01

106

The erratic mitochondrial clock: variations of mutation rate, not population size, affect mtDNA diversity across birds and mammals  

UK PubMed Central (United Kingdom)

BackgroundDuring the last ten years, major advances have been made in characterizing and understanding the evolution of mitochondrial DNA, the most popular marker of molecular biodiversity....Full Text Available

107

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model  

UK PubMed Central (United Kingdom)

Dominant mutations in sarcomere protein genes cause hypertrophic cardiomyopathy, an inherited human disorder with increased ventricular wall thickness, myocyte hypertrophy, and disarray. To understand...Full Text Available

2002-04-15

108

Technical approaches for mouse models of human disease  

UK PubMed Central (United Kingdom)

The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available

2011-05-01

109

Targeting the p53 Pathway in Ewing Sarcoma  

UK PubMed Central (United Kingdom)

The p53 tumour suppressor plays a pivotal role in the prevention of oncogenic transformation. Cancers frequently evade the potent antitumour surveillance mechanisms of p53 through mutation of the TP53...Full Text Available

2011-01-01

110

T cell-engaging BiTE antibodies specific for EGFR potently eliminate KRAS- and BRAF-mutated colorectal cancer cells  

UK PubMed Central (United Kingdom)

Epidermal growth factor receptor (EGFR)-specific monoclonal antibodies predominantly inhibit colorectal cancer (CRC) growth by interfering with receptor signaling. Recent analyses have shown that patients...Full Text Available

2010-07-13

111

Species abundance distributions in neutral models with immigration or mutation and general lifetimes  

CERN Document Server

We consider a general, neutral, dynamical model of biodiversity. Individuals have i.i.d. lifetime durations, which are not necessarily exponentially distributed, and each individual gives birth independently at constant rate \\lambda. We assume that types are clonally inherited. We consider two classes of speciation models in this setting. In the immigration model, new individuals of an entirely new species singly enter the population at constant rate \\mu (e.g., from the mainland into the island). In the mutation model, each individual independently experiences point mutations in its germ line, at constant rate \\theta. We are interested in the species abundance distribution, i.e., in the numbers, denoted I_n(k) in the immigration model and A_n(k) in the mutation model, of species represented by k individuals, k=1,2,...,n, when there are n individuals in the total population. In the immigration model, we prove that the ...

2010-01-01

112

Sp1/NF?B/HDAC/miR-29b Regulatory Network in KIT-driven Myeloid Leukemia  

UK PubMed Central (United Kingdom)

SUMMARYThe biologic and clinical significance of KIT overexpression that associates with KIT gain-of- function mutations occurring in subsets...Full Text Available

2010-04-13

113

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin  

UK PubMed Central (United Kingdom)

PurposeIt has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss...Full Text Available

114

Selection and characterization of ricin toxin A-chain mutations in Saccharomyces cerevisiae.  

UK PubMed Central (United Kingdom)

A DNA sequence encoding the A chain of ricin toxin (RTA) from the castor bean plant, Ricinus communis, was placed under GAL1 promoter control and transformed into Saccharomyces cerevisiae. Induction...Full Text Available

1989-02-01

115

Role of the nac gene product in the nitrogen regulation of some NTR-regulated operons of Klebsiella aerogenes.  

UK PubMed Central (United Kingdom)

A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available

1990-12-01

116

Reconstruction of the complete human cytomegalovirus genome in a BAC reveals RL13 to be a potent inhibitor of replication  

UK PubMed Central (United Kingdom)

Human cytomegalovirus (HCMV) in clinical material cannot replicate efficiently in vitro until it has adapted by mutation. Consequently, wild-type HCMV differ fundamentally from the passaged strains...Full Text Available

2010-09-01

117

Radiation-induced mutations at mouse hemoglobin loci  

International Nuclear Information System (INIS)

In experiments designed to detect new mutations affecting hemoglobin, we irradiated the male or female parent in reciprocal crosses of two mouse strains that differ in alleles at the hemoglobin (Hba, Hbb) loci as well as at five other specific loci. Offspring were analyzed for hemoglobin properties (electrophoretic pattern, solubility, crystal pattern), serum albumin differences, erythrocyte lysis, reticulocyte count, and external appearance. Five hemoglobin variants were found among the mutants. In three, the genetic contribution from the irradiated father was not expressed with regard to the #alpha#-chain; one carried a tandem duplication (the first known case in the mouse) involving Hbb; and one probably resulted from double nondisjunction of chromosome 7. The finding that major chromosome aberratios can mimic hemoglobin mutations indicates the need, in similar experiments, to follow F_1 screening with thorough cytogenetic analysis. The ...

118

Pten Knockdown in vivo Increases Excitatory Drive onto Dentate Granule Cells  

UK PubMed Central (United Kingdom)

Some cases of autism spectrum disorder (ASD) have mutations in the lipid phosphatase, Pten (phosphatase and tensin homolog on chromosome 10). Tissue...Full Text Available

2011-03-16

119

Production of Infectious Genotype 1b Virus Particles in Cell Culture and Impairment by Replication Enhancing Mutations  

UK PubMed Central (United Kingdom)

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured...Full Text Available

2009-06-01

120

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).  

UK PubMed Central (United Kingdom)

BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic...Full Text Available

1996-01-01

121

Past, present, and future of mutagens in cooked foods.  

UK PubMed Central (United Kingdom)

Mutation assay with Salmonella typhimurium enabled us to detect various types of mutagens in cooked foods. A series of mutagenic heterocyclic amines has been isolated and identified in broiled fish...Full Text Available

1986-08-01

122

Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina  

UK PubMed Central (United Kingdom)

The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated...Full Text Available

123

Neurotensin Receptor 1 Is Expressed in Gastrointestinal Stromal Tumors but Not in Interstitial Cells of Cajal  

UK PubMed Central (United Kingdom)

Gastrointestinal stromal tumors (GIST) are thought to derive from the interstitial cells of Cajal (ICC) or an ICC precursor. Oncogenic mutations of the KIT or PDGFRA receptor tyrosine kinases are present...Full Text Available

124

Natural variation in life history and aging phenotypes is associated with mitochondrial DNA deletion frequency in Caenorhabditis briggsae  

UK PubMed Central (United Kingdom)

BackgroundMutations that impair mitochondrial functioning are associated with a variety of metabolic and age-related disorders. A barrier to rigorous tests of the role of mitochondrial...Full Text Available

125

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss  

UK PubMed Central (United Kingdom)

We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79...Full Text Available

2010-03-12

126

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)  

UK PubMed Central (United Kingdom)

BackgroundAmyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3–10% of patients....Full Text Available

127

Mutations affecting the development of the peripheral nervous system in Drosophila: a molecular screen for novel proteins.  

UK PubMed Central (United Kingdom)

In our quest for novel genes required for the development of the embryonic peripheral nervous system (PNS), we have performed three genetic screens using MAb 22C10 as a marker of terminally differentiated...Full Text Available

2000-12-01

128

Mutational Analysis of cis-Acting RNA Signals in Segment 7 of Influenza A Virus?  

UK PubMed Central (United Kingdom)

The genomic viral RNA (vRNA) segments of influenza A virus contain specific packaging signals at their termini that overlap the coding regions. To further characterize cis-acting signals...Full Text Available

2008-12-01

129

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa  

UK PubMed Central (United Kingdom)

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding...Full Text Available

2010-11-01

130

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration  

UK PubMed Central (United Kingdom)

BackgroundMitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders....Full Text Available

131

Mapping of the transcription start site (TSS) and identification of SNPs in the bovine neuropeptide Y (NPY) gene  

UK PubMed Central (United Kingdom)

BackgroundNeuropeptide Y is a key neurotransmitter of the central nervous system which plays a vital role in the feed energy homeostasis in mammals. Mutations in the regulatory and...Full Text Available

132

Loss of ?-III spectrin leads to Purkinje cell dysfunction recapitulating the behaviour and neuropathology of SCA5 in humans  

UK PubMed Central (United Kingdom)

Mutations in SPTBN2, the gene encoding β-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor...Full Text Available

2010-04-07

133

Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population  

UK PubMed Central (United Kingdom)

Dysregulation of the alternative pathway of complement activation, caused by mutations or polymorphisms in the genes encoding factor H, membrane co-factor protein, factor I or factor B, is associated...Full Text Available

2009-01-01

134

Investigation and prediction of the severity of p53 mutants using parameters from structural calculations  

UK PubMed Central (United Kingdom)

A method has been developed to predict the effects of mutations in the p53 cancer suppressor gene. The new method uses novel parameters combined with previously established parameters. The most important...Full Text Available

2009-08-01

135

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.  

UK PubMed Central (United Kingdom)

The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene...Full Text Available

1990-02-01

136

Inferring Stabilizing Mutations from Protein Phylogenies: Application to Influenza Hemagglutinin  

UK PubMed Central (United Kingdom)

One selection pressure shaping sequence evolution is the requirement that a protein fold with sufficient stability to perform its biological functions. We present...Full Text Available

2009-04-01

137

Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies  

UK PubMed Central (United Kingdom)

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available

2010-10-01

138

Identification of a Chemically Induced Point Mutation Mediating Herbicide Tolerance in Annual Medics (Medicago spp.)  

UK PubMed Central (United Kingdom)

Background and AimsSulfonylurea (SU) herbicides are used extensively in cereal–livestock farming zones as effective and cheap herbicides with useful levels of residual activity....Full Text Available

2008-05-01

139

ICC-MY coordinate smooth muscle electrical and mechanical activity in the murine small intestine  

UK PubMed Central (United Kingdom)

BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available

2010-05-01

140

Highly Conserved Regimes of Neighbor-Base-Dependent Mutation Generated the Background Primary-Structural Heterogeneities along Vertebrate Chromosomes  

UK PubMed Central (United Kingdom)

The content of guanine+cytosine varies markedly along the chromosomes of homeotherms and great effort has been devoted to studying this heterogeneity and its biological implications. Already...Full Text Available

141

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.  

UK PubMed Central (United Kingdom)

The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes...Full Text Available

1991-12-01

142

Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.  

UK PubMed Central (United Kingdom)

Phenylalanine hydroxylase was purified from crude extracts of human livers which show enzyme activity by usine two different methods: (a) affinity chromatography and (b) immunoprecipitation with an...Full Text Available

1979-08-01

143

Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans  

UK PubMed Central (United Kingdom)

Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available

2010-03-01

144

Gene expression profiling of oxidative stress response of C. elegans aging defective AMPK mutants using massively parallel transcriptome sequencing  

UK PubMed Central (United Kingdom)

BackgroundA strong association between stress resistance and longevity in multicellular organisms has been established as many mutations that extend lifespan also show increased...Full Text Available

145

Gene Therapy in the Retinal Degeneration Slow Model of Retinitis Pigmentosa  

UK PubMed Central (United Kingdom)

Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the disease phenotype can be predicted...Full Text Available

2010-01-01

146

GLUE-IT and PEDEL-AA: new programmes for analyzing protein diversity in randomized libraries  

UK PubMed Central (United Kingdom)

There are many methods for introducing random mutations into nucleic acid sequences. Previously, we described a suite of programmes for estimating the completeness and diversity of randomized DNA libraries...Full Text Available

2008-07-01

147

Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse  

UK PubMed Central (United Kingdom)

BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available

148

FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis  

UK PubMed Central (United Kingdom)

Fibroblast growth factor (FGF) signaling is involved in skeletal development of the vertebrate. Gain-of-function mutations of FGF receptors (FGFR) cause craniosynostosis, premature fusion of the skull,...Full Text Available

2002-04-01

149

Exome sequencing identifies GRIN2A as frequently mutated in melanoma  

UK PubMed Central (United Kingdom)

The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available

2011-05-01

150

Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency  

UK PubMed Central (United Kingdom)

BackgroundNeurofibromatosis type 1 (NF1) is a common monogenic tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1....Full Text Available

151

EGFR Signaling Through an Akt-SREBP-1-Dependent, Rapamycin-Resistant Pathway Sensitizes Glioblastomas to Anti-Lipogenic Therapy  

UK PubMed Central (United Kingdom)

Glioblastoma, the most common malignant brain tumor, is among the most lethal and difficult cancers to treat. Although epidermal growth factor receptor (EGFR) mutations are frequent in glioblastoma,...Full Text Available

152

E2f binding-deficient Rb1 protein suppresses prostate tumor progression in vivo  

UK PubMed Central (United Kingdom)

Mutational inactivation of the RB1 tumor suppressor gene initiates retinoblastoma and other human cancers. RB1 protein (pRb) restrains cell proliferation by binding...Full Text Available

2011-01-11

153

Dissecting the Genetic Components of Adaptation of Escherichia coli to the Mouse Gut  

UK PubMed Central (United Kingdom)

While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available

2008-01-01

154

Developmental abnormalities and epimutations associated with DNA hypomethylation mutations.  

UK PubMed Central (United Kingdom)

A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination. Onset of a spectrum of morphological...Full Text Available

1996-10-29

156

Cyst Formation in Kidney via B-Raf Signaling in the PKD2 Transgenic Mice*  

UK PubMed Central (United Kingdom)

The pathogenic mechanisms of human autosomal dominant polycystic kidney disease (ADPKD) have been well known to include the mutational inactivation of PKD2. Although haploinsufficiency...Full Text Available

2009-03-13

157

Construction of a novel bifunctional biogenic amine receptor by two point mutations of the H2-histamine receptor.  

UK PubMed Central (United Kingdom)

BACKGROUND: H2-histamine receptors mediate a wide range of physiological functions extending from stimulation of gastric acid secretion to induction of human promyelocyte differentiation. We have previously...Full Text Available

1995-03-01

158

Congenital woolly hair without P2RY5 mutation  

UK PubMed Central (United Kingdom)

Congenital woolly hair is a disorder with structural defects of the hair shafts. Curled hairs are noticed at birth or soon after birth and often improve with age. Some cases of woolly hairs are associated...Full Text Available

2009-01-01

159

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.  

Science.gov (United States)

N-ethyl-N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp(xG). Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp(xG) was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp(xG) carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired ...

2011-07-19

160

Chapter 61: Photoreceptor Cell Degeneration in Abcr?/? Mice  

UK PubMed Central (United Kingdom)

Mice harboring a null mutation in Abca4/Abcr serve as a model of autosomal recessive Stargardt disease. Consistent with the human retinal disorder, deficiency...Full Text Available

2010-01-01

161

COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia  

UK PubMed Central (United Kingdom)

Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively....Full Text Available

2010-08-01

162

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.  

UK PubMed Central (United Kingdom)

Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the...Full Text Available

1989-01-01

163

Apolipoprotein E-Mimetics Inhibit Neurodegeneration and Restore Cognitive Functions in a Transgenic Drosophila Model of Alzheimer's Disease  

UK PubMed Central (United Kingdom)

BackgroundMutations of the amyloid precursor protein gene (APP) are found in familial forms of Alzheimer's disease (AD) and some lead to the elevated production...Full Text Available

164

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene  

UK PubMed Central (United Kingdom)

PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available

165

Antagonistic crosstalk between APC and HIF-1?  

UK PubMed Central (United Kingdom)

Most colorectal cancers have mutations in the tumor suppressor APC. The best-understood function of APC is its participation in a protein complex that regulates the availability of β-catenin....Full Text Available

2011-05-15

166

Antagonistic Gcn5-Hda1 interactions revealed by mutations to the Anaphase Promoting Complex in yeast  

UK PubMed Central (United Kingdom)

BackgroundHistone post-translational modifications are critical for gene expression and cell viability. A broad spectrum of histone lysine residues have been identified in yeast...Full Text Available

167

An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer  

UK PubMed Central (United Kingdom)

Cancers are highly heterogeneous and contain many passenger and driver mutations. To functionally identify tumor suppressor genes relevant to human cancer, we compiled pools of short harpin...Full Text Available

2008-11-28

168

Air pollution induces heritable DNA mutations  

UK PubMed Central (United Kingdom)

Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available

2002-12-10

169

Adenomatous Polyposis Coli and Hypoxia-inducible Factor-1? Have an Antagonistic Connection  

UK PubMed Central (United Kingdom)

The tumor suppressor adenomatous polyposis coli (APC) is mutated in the majority of colorectal cancers and is best known for its role as a scaffold in a Wnt-regulated protein complex that determines...Full Text Available

2010-11-01

170

A piggyBac transposon-based genome-wide library of insertionally mutated Blm-deficient murine ES cells  

UK PubMed Central (United Kingdom)

Cultured mouse or human embryonic stem (ES) cells provide access to all of the genes required to elaborate the fundamental components and physiological systems of a mammalian cell. Chemical or insertional...Full Text Available

2009-04-01

171

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features  

UK PubMed Central (United Kingdom)

PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available

172

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (A{sup y}) mutation  

Energy Technology Data Exchange (ETDEWEB)

Lethal yellow (A{sup y}) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for A{sup y} results in preimplantation lethality, which terminates development by the blastocyst stage. The A{sup y} mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3{prime} end of the agouti gene. The authors present a model for the structure of the A{sub y} allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the ...

1994-03-29

173

A homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, ? cell hyperplasia, and islet cell tumor  

UK PubMed Central (United Kingdom)

ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available

2009-11-01

174

A DNA transposon-based approach to validate oncogenic mutations in the mouse  

UK PubMed Central (United Kingdom)

Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available

2008-12-16

175

Three novel mutations responsible for Cockayne syndrome group A  

International Nuclear Information System (INIS)

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the ...

2003-02-01

176

Linkage analysis in familial Angelman syndrome  

Energy Technology Data Exchange (ETDEWEB)

Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. The authors have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described ...

1993-07-01

177

Thioredoxin Is an Essential Protein Induced by Multiple Stresses in Bacillus subtilis  

UK PubMed Central (United Kingdom)

Thioredoxin, a small, ubiquitous protein which participates in redox reactions through the reversible oxidation of its active center dithiol to a disulfide, is an essential protein in Bacillus...Full Text Available

1998-04-01

178

Proteasomal chymotrypsin-like peptidase activity is required for essential functions of human monocyte-derived dendritic cells  

UK PubMed Central (United Kingdom)

The ubiquitin–proteasome pathway is the principal system for extralysosomal protein degradation in eukaryotic cells, and is essential for the regulation and maintenance of basic cellular processes,...Full Text Available

2007-01-01

179

Nickel: A Micronutrient Essential for Higher Plants 1  

UK PubMed Central (United Kingdom)

Nickel was established as an essential micronutrient for the growth of temperate cereal crops. Grain from barley (Hordeum vulgare L. cv `Onda'; containing 40 to 80 nanograms of Ni per...Full Text Available

1987-11-01

180

Effects of Essential Oils on Ruminal Microorganisms and Their Protein Metabolism  

UK PubMed Central (United Kingdom)

A commercial blend of essential oil (EO) compounds was added to a grass, maize silage, and concentrate diet fed to dairy cattle in order to determine their influence on protein metabolism by ruminal...Full Text Available

2003-08-01

181

Wideband Modulation and Tuning of Semiconductor Lasers ...  

Science.gov (United States)

... Tunable semiconductor lasers are essential components for links employing optical frequency modulation (OFM) for enhanced dynamic range or ...

1996-07-01

182

Physical Sciences  

Science.gov (United States)

hicle [UUV (essentially, a small ex- ploratory submarine robot)] of a type that has been deployed in large numbers in research pertaining to global warm- ...

183

NASA Astrobiology  

Science.gov (United States)

System). From collecting terabytes of video footage to tracking the movements of the submarines, this software is essential to the science team as they explore unique structures on...

2011-09-16

184

Carbon Fiber Reinforced Glass Matrix Composites for Satellite ...  

Science.gov (United States)

... The ultimate compressive strength (UCS) for the HMU/BSG composite is essentially equivalent to the tensile strength exhibited by this system. ...

1992-06-01

185

Long-distance transport, vacuolar sequestration, tolerance, and transcriptional responses induced by cadmium and arsenic  

British Library Electronic Table of Contents (United Kingdom)

Iron, zinc, copper and manganese are essential metals for cellular enzyme functions while cadmium, mercury and the metalloid arsenic lack any biological function. Both, essential metals, at high concentrations, and non-essential metals and metalloids are extremely reactive and toxic. Therefore, plants have acquired specialized mechanisms to sense, transport and maintain essential metals within physiological concentrations and to detoxify non-essential metals and metalloids. This review focuses on the recent identification of transporters that sequester cadmium and arsenic in vacuoles and the mechanisms mediating the partitioning of these metal(loid)s between roots and shoots. We further discuss recent models of phloem-mediated long-distance transport, seed accumulation of Cd and As and rec...

2011-01-01

186

Research work on mutation breeding in Egypt during the 1980s  

International Nuclear Information System (INIS)

The research work carried out on mutation breeding in Egypt during the 1980s is summarized. Several mutations have been developed in bread wheat, maize, rice and barley. A higher yield, tolerance to salinity, shorter types and earliness were obtained after use of different mutagens and growth regulators. Great attention has been paid to the fababean and chickpea, particularly in improving their quality and quantity of protein, and their resistance to insect weevils such as Callosobruchus sp. Tolerance or resistance to broom rape has also been reported. Various grain legumes such as lentil, pea, cowpea, bean, fenugreek and lupin received some attention. Mutation work on fibre crops such as cotton, kenaf and flax has led to some promising results. Zero type, glandless and early maturing mutants were obtained in cotton, and early flowering, high yielding (fibre or oil) mutants in flax. Some attention has been given to oil ...

1990-06-18

187

Production of Infectious Genotype 1b Virus Particles in Cell Culture and Impairment by Replication Enhancing Mutations  

Science.gov (United States)

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured human hepatoma cells, but save for the genotype 2a isolate JFH-1, efficient replication of these HCV RNAs requires replication enhancing mutations (REMs), previously also called cell culture adaptive mutations. These mutations cluster primarily in the central region of non-structural protein 5A (NS5A), but may also reside in the NS3 helicase domain or at a distinct position in NS4B. Most efficient replication has been achieved by combining REMs residing in NS3 with distinct REMs located in NS4B or NS5A. However, in spite of efficient replication of HCV genomes containing such mutations, they do not support production of infectious virus particles. By using the genotype 1b isolate Con1, in this study we ...

2009-06-12

188

Ionizing radiation-induced mutation of human cells with different DNA repair capacities  

Energy Technology Data Exchange (ETDEWEB)

We have observed significant differences in the response to ionizing radiation of two closely related human cell lines, and now compare the effects on these lines of both low and intermediate LET radiation. Compared to TK6, WTK1 has an enhanced X-ray survival, and is also more resistant to cell killing by {alpha}-particles. The hprt locus is more mutable in WTK1 than in TK6 by both X-rays and {alpha}-particles. WTK1 is also more mutable by {alpha}-particles than by X-rays at the hprt locus. X-ray-induced mutation at the heterozygous tk locus in WTK1 is about 25 fold higher than in TK6, while {alpha}-particle-induced mutation is nearly 50 fold higher at this locus. Also, the slowly growing tk- mutants, which comprise the majority of spontaneous and X-ray-induced tk- mutants of TK6, were not induced significantly by {alpha}-particles. Previously, we showed that TK6 has a reduced capacity for recombination compared with WTK1, and therefore, these ...

1994-12-31

189

Detection of basepair substitution mutation at a frequency of 1 x 10(-7) by combining two genotypic selection methods, MutEx enrichment and allele-specific competitive blocker PCR.  

Science.gov (United States)

The detection of rare mutations has many important applications, including risk assessment of drugs and chemicals, measuring environmental exposures to genotoxins, and cancer cell detection. A sensitive genotypic selection method has been developed that combines two different mutant allele selection techniques, MutEx enrichment and allele-specific competitive blocker PCR (ACB-PCR). This method was developed and evaluated for the detection of a CAA --> AAA mutation at codon 61 of the mouse H-ras gene. The MutEx enrichment is based on MutS binding to a mismatched basepair in heteroduplex DNA. The bound MutS protects the mutant allele from degradation during subsequent exonuclease treatment. ACB-PCR preferentially amplifies a mutant allele in a PCR reaction using a primer that has more mismatches to the wild-type allele than the mutant allele. By combining these two approaches, the codon 61 mutation was detected at mutant ...

1998-01-01

190

Homology among tet determinants in conjugative elements of streptococci  

Energy Technology Data Exchange (ETDEWEB)

A mutation to tetracycline sensitivity in a resistant strain of Streptococcus pneumoniae was shown by several criteria to be due to a point mutation in the conjugative o(cat-tet) element found in the chromosomes of strains derived from BM6001, a clinical strain resistant to tetracycline and chloramphenicol. Strains carrying the mutation were transformed back to tetracycline resistance with the high efficiency of a point marker by donor deoxyribonucleic acids from its ancestral strain and from nine other clinical isolates of pneumococcus and by deoxyribonucleic acids from Group D Streptococcus faecalis and Group B Streptococcus agalactiae strains that also carry conjugative tet elements in their chromosomes. It was not transformed to resistance by tet plasmid deoxyribonucleic acids from either gram-negative or gram-positive species, except for one that carried transposon TN916, the conjugative tet element present in the ...

1981-10-01

191

Hepatic aflatoxin B1-DNA adducts and TP53 mutations in patients with hepatocellular carcinoma despite low exposure to aflatoxin B1 in southern Japan  

British Library Electronic Table of Contents (United Kingdom)

Abstract Background & aims: Hepatitis B or C virus infection is considered to be the main cause of hepatocellular carcinoma (HCC) in Japan. Aflatoxin B1 (AFB1) is a carcinogen associated with HCC in regions with high exposure. Mutations in codon 249, exon 7 are a hallmark of AFB1 exposure. Therefore, to clarify the role of AFB1 in hepatocarcinogenesis, we examined AFB1-DNA in liver tissue and sequenced TP53 in Japanese patients with HCC. Methods: Hepatocyte AFB1-DNA adducts were determined immunohistochemically and direct sequencing of TP53 was done to determine mutations in 188 of 279 patients who underwent hepatic resection for HCC. We assessed hepatitis C virus antibodies (HCV Ab) and HBSAg expression; patients without either were defined as having non-B non-C hepatocellular carcinoma (...

2011-01-01

192

Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects  

International Nuclear Information System (INIS)

Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side effects by reaction ...

1999-07-15

193

An ELISA-based high throughput protein truncation test for inherited breast cancer  

Science.gov (United States)

IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation ...

2010-10-04

194

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome  

International Nuclear Information System (INIS)

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic ''cylindrical-shape'' thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder. (orig.)

2006-09-01

195

Studies of human mutation rates  

Energy Technology Data Exchange (ETDEWEB)

November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.

1990-01-01

196

Somatic mutations detected by immunofluorescence and flow cytometry  

International Nuclear Information System (INIS)

We have at hand the tools for development of both a single amino acid substitution and a gene loss type assay for somatic cell mutations in human red cells. We are close to being able to assess the assays as possible means for screening the human population for individuals who may be a risk of acquiring abnormally high frequencies of mutant cells. The cause for such a high frequency of mutant cells could be a prior exposure of the individual to large amount of mutagen, or it could indicate a member of a vulnerable subpopulation that may have poor DNA repair systems. Either of these cases could well be an indication that the particular individual is at high risk that exposure to mutagens could lead to potential pathology. In the near future we expect to determine the reliability of the assays and to perform experiments to confirm the validity of flow cytometry in measuring real somatic mutagenic events that occur in vivo. (orig./AJ).

197

One-step RNA pathogen detection with reverse transcriptase activity of a mutated thermostable Thermus aquaticus DNA polymerase  

British Library Electronic Table of Contents (United Kingdom)

We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60degreeC). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at hi...

2010-01-01

198

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease  

British Library Electronic Table of Contents (United Kingdom)

Lebers hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was ...

2008-01-01

199

Improving protein quality of soybean through induced mutations  

International Nuclear Information System (INIS)

Soybean is one of the most economical and nutritious food packed with basic nutrients that combat diseases stemming from mal- and under-nutrition. Despite its rich nutritional profile, use of soybean in food has been limited because soybean proteins are often associated with compounds, which could exert a negative impact on the nutritional quality of the protein. Trypsin inhibitor (TI) is one of the important anti-nutritional factors that exert negative effect by causing growth inhibition. Soybean cultivar VLS-2 was irradiated with 250 Gy gamma rays in a gamma cell (200) with 60Co source installed at BARC to induce mutations for low trypsin inhibitor content. Three mutants with lower levels of TI content were identified and can be utilized for developing elite varieties of soybean. (author)

2011-02-22

200

Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene.  

Science.gov (United States)

We developed mice with germline endogenous expression of oncogenic Hras to study effects on development and mechanisms of tumor initiation. They had high perinatal mortality, abnormal cranial dimensions, defective dental ameloblasts, and nasal septal deviation, consistent with some of the features of human Costello syndrome. These mice developed papillomas and angiosarcomas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling. Endogenous expression of Hras(G12V) was also associated with a higher mutation rate in vivo. Tumor initiation by Hras(G12V) likely requires augmentation of signal output, which in papillomas and angiosarcomas is achieved via increased Hras-gene copy number, which may be favored by a higher mutation frequency in cells expressing the oncoprotein. PMID:19416908

2009-04-29

201

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family  

British Library Electronic Table of Contents (United Kingdom)

Abstract Hereditary primary hyperparathyroidism (HPT) may develop as a solitary endocrinopathy (FIHP) or as part of multiple endocrine neoplasia Type 1, multiple endocrine neoplasia Type 2A, or hereditary HPT-jaw tumor syndrome. Inactivating germline mutations of the tumor suppressor gene CDC73 account for 14 and 50% of all FIHP and HPT-JT patients, respectively, and have also been found in almost 20% of apparently sporadic parathyroid carcinoma patients. Although more than 60 independent germline mutations have been described, to date no rearrangement affecting the CDC73 locus has been identified. By means of multiplex-PCR we found a large germline deletion affecting the whole gene in a two-generation HPT-JT family. Subsequently array-CGH and specific PCR analysis determined that the muta...

2011-01-01

202

Amino acid substitution: its use in detection and analysis of genetic variants  

International Nuclear Information System (INIS)

Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of ["3H] isoleucine phenylthiohydantoin by high-performance liquid chromatography, the frequency at which normally noncoded isoleucine is incorporated into hemoglobin because of base-substitution mutations versus translational errors. Irradiation increases the isoleucine content of human hemoglobin and the frequency of substitution of isoleucine for specific amino acids in rabbit hemoglobin. Studies to date indicate that these techniques have been developed sufficiently for initial analysis of the potential of drugs and environmental pollutants to induce base-substitution mutations in mammalian somatic cells.

203

APC and KRAS mutations in distal colorectal polyps are related to smoking habits in men: results of a cross-sectional study  

British Library Electronic Table of Contents (United Kingdom)

Background The purpose of this study was (a) to evaluate the association between cigarette smoking and the prevalence of distal colorectal polyps and adenocarcinoma and (b) to analyse genetic alterations representing different molecular pathways of the colorectal carcinogenesis. Methods A total of 623 asymptomatic male (mean age: 53 years; 50?65) car factory workers were included. Information on smoking habits and other lifestyle factors were collected followed by a 60 cm colonoscopy. APC and KRAS mutations and microsatellite status were determined in colorectal lesions (colorectal carcinoma (CRC), hyperplastic (HP) and adenomatous polyps (AP)). Data were analysed using unconditional multiple logistic regression models. Results Smokers had a higher prevalence of AP (OR 2.1; 95% CI 1.2?3.6;...

2011-01-01

204

Variation of Mesenchymal Cells in Polylactic Acid Scaffold in an Osteochondral Repair Model  

UK PubMed Central (United Kingdom)

ObjectiveTo achieve osteochondral regeneration utilizing transplantation of cartilage-lineage cells and adequate scaffolds, it is essential to characterize the behavior of transplanted...Full Text Available

2009-12-01

205

The androgen receptor governs the execution, but not programming, of male sexual and territorial behaviors  

UK PubMed Central (United Kingdom)

SUMMARYTestosterone and estrogen are essential for male behaviors in vertebrates. How these two signaling pathways interact to control masculinization of the brain and behavior...Full Text Available

2010-04-29

206

The COG database: an updated version includes eukaryotes  

UK PubMed Central (United Kingdom)

BackgroundThe availability of multiple, essentially complete genome sequences of prokaryotes and eukaryotes spurred both the demand and the opportunity for the construction of an...Full Text Available

207

Telomeric recombination induced by dysfunctional telomeres  

UK PubMed Central (United Kingdom)

 Telomere maintenance is essential for cellular immortality, and most cancer cells maintain their telomeres through the enzyme telomerase. Telomeres and telomerase represent promising anticancer...Full Text Available

2011-01-15

208

Standardization of Ajmodadi churna, a polyherbal formulation  

UK PubMed Central (United Kingdom)

Standardization of herbal formulations is essential in order to assess the quality of drugs, based on the concentration of their active principles. This article reports on standardization of Ajmodadi...Full Text Available

2010-03-01

209

Software Vulnerabilities in Java  

Science.gov (United States)

Page 1. Software Vulnerabilities in Java Fred Long October 2005 CERT ... iii Abstract Java is essentially a safe language with good security features. ...

2005-10-01

210

Securing co-operation from persons supplying statistical data  

UK PubMed Central (United Kingdom)

Securing the co-operation of persons supplying information required for medical statistics is essentially a problem in human relations, and an understanding of the motivations, attitudes, and behaviour...Full Text Available

1954-01-01

211

Quality and availability of consumer information on heart failure in Australia  

UK PubMed Central (United Kingdom)

BackgroundProvision of consumer information and patient education are considered an essential part of chronic disease management programmes developed for patients with heart failure....Full Text Available

212

Preclinical Models for Neuroblastoma: Establishing a Baseline for Treatment  

UK PubMed Central (United Kingdom)

BackgroundPreclinical models of pediatric cancers are essential for testing new chemotherapeutic combinations for clinical trials. The most widely used ...Full Text Available

213

PUTATIVE CSF PROTEIN BIOMARKER CANDIDATES FOR AMNESTIC MILD COGNITIVE IMPAIRMENT  

UK PubMed Central (United Kingdom)

The identification of individuals at risk for Alzheimer's disease (AD) is essential for the timely administration of treatment approaches aimed at slowing the onset or progression of the disease....Full Text Available

2010-03-01

214

Non-classical actions of testosterone and spermatogenesis  

UK PubMed Central (United Kingdom)

Testosterone is essential to maintain spermatogenesis and male fertility. In the absence of testosterone stimulation, spermatogenesis does not proceed beyond the meiosis stage. After withdrawal of testosterone,...Full Text Available

2010-05-27

215

Kitasato symposium 2010: new prospects for cytokines  

UK PubMed Central (United Kingdom)

The Second Kitasato Symposium: New Prospects for Cytokines brought together researchers and rheumatologists to consider the essential role of cytokines in health and their contributions to autoimmunity....Full Text Available

2010-01-01

216

Iron Therapy for Preterm Infants  

UK PubMed Central (United Kingdom)

SYNOPSISPreterm infants are at risk for both iron deficiency and iron overload. The role of iron in multiple organ functions suggests that iron supplementation is essential for...Full Text Available

2009-03-01

217

Interferons and the Maternal-Conceptus Dialog in Mammals  

UK PubMed Central (United Kingdom)

Two-way communication between the conceptus and the mother during early pregnancy is essential if the pregnancy is to survive. In this review, our primary focus is on biochemical communication...Full Text Available

2008-04-01

218

Instrumentation for Materials Research - Major Instrumentation Projects  

Science.gov (United States)

... Materials Research - Major Instrumentation Project (IMR-MIP) program in the Division of Materials ... for materials preparation and characterization essential for researchers studying materials in a ...

219

Heat shock proteins as emerging therapeutic targets  

UK PubMed Central (United Kingdom)

Chaperones (stress proteins) are essential proteins to help the formation and maintenance of the proper conformation of other proteins and to promote cell survival after a large variety of environmental...Full Text Available

2005-11-01

220

Gene Networks and the Neuroendocrine Regulation of Puberty  

UK PubMed Central (United Kingdom)

A sustained increase in pulsatile release of gonadotrophin releasing hormone (GnRH) from the hypothalamus is an essential, final event that defines the initiation of mammalian puberty. This...Full Text Available

2010-08-05

221

Deep Space Probe Science Experiment  

Science.gov (United States)

Briefly, 48 MOS microparticle sensors (essentially the same as those flown on .... at the Naval Research Lab to interpret the polarization of the incoming radio .... Adapter Satellite, to be published in Journal of Spacecraft and Rockets, 1994. ...

222

Coordination of the Eyes and Head during Visual Orienting  

UK PubMed Central (United Kingdom)

Changing the direction of the line of sight is essential for the visual exploration of our environment. When the head does not move, re-orientation of the visual axis is accomplished with high...Full Text Available

2008-10-01

223

Catalyst for the manufacture of acrylonitrile and methacrylonitrile  

Energy Technology Data Exchange (ETDEWEB)

This patent describes a catalyst composition. It consists of the catalytic oxides of iron, bismuth, molybdenum and magnesium as essential components and optionally the oxides of cobalt, nickel, phosphorus and arsenic.

1989-09-05

224

Ancestral Genomes, Sex, and the Population Structure of Trypanosoma cruzi  

UK PubMed Central (United Kingdom)

Acquisition of detailed knowledge of the structure and evolution of Trypanosoma cruzi populations is essential for control of Chagas disease....Full Text Available

2006-03-01

225

A Cyanobacterial Circadian Clockwork  

UK PubMed Central (United Kingdom)

Cyanobacteria have become a major model system for analyzing clock phenomena. The temporal program in this organism enhances fitness in rhythmic environments and is truly global—essentially...Full Text Available

2008-09-09

226

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79  

UK PubMed Central (United Kingdom)

Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome 9q34.3, which includes 108 candidate genes. Genomic...Full Text Available

2010-03-12

227

Signal transduction pathway controlling synthesis of a class of degradative enzymes in Bacillus subtilis: expression of the regulatory genes and analysis of mutations in degS and degU.  

UK PubMed Central (United Kingdom)

The rates of synthesis of a class of both secreted and intracellular degradative enzymes in Bacillus subtilis are controlled by a signal transduction pathway defined by at least four regulatory genes:...Full Text Available

1990-02-01

228

Relationship between O6-alkylguanine-DNA alkyltransferase activity and N-methyl-N'-nitro-N-nitrosoguanidine-induced mutation, transformation, and cytotoxicity in C3H/10T1/2 cells expressing exogenous alkyltransferase genes.  

UK PubMed Central (United Kingdom)

While a great deal of evidence has directly implicated the importance of O6-alkylation of guanine in the mutagenicity of alkylating agents, evidence demonstrating the oncogenic potential of this lesion...Full Text Available

1992-12-01

229

Radiation accidents in the Southern Urals (1949-1967) and human genome damage.  

Science.gov (United States)

A series of radioactive catastrophes (from 1948 to 1967) in the Southern Urals in the USSR led to intensive environmental contamination. Radioactive wastes were dispersed over the 20000 km(2) territory of four provinces-Chelyabinsk, Sverdlovsk, Tyumen' and Kurgan-due to the activity of the military facility that was built in 1948 for the production of nuclear bomb plutonium. The results of 50 years of investigations into the consequences of these disasters allow a general picture of the events that occurred to be reconstructed and allow the medical consequences of the irradiation of about half a million residents to be depicted. However, due to the atmosphere of secrecy and inadequate medical procedures, the results of medical studies of radiation victims are scant. The current protocols present a unique opportunity to study the DNA damage at the nucleotide resolution level in the genome of inhabitants of the given region, who presumably received chronic doses of irradiation. Studies ...

2002-11-01

230

Prediction of conformational changes by single mutation in the hepatitis B virus surface antigen (HBsAg) identified in HBsAg-negative blood donors  

UK PubMed Central (United Kingdom)

BackgroundSelection of hepatitis B virus (HBV) by host immunity has been suggested to give rise to variants with amino acid substitutions at or around the 'a' determinant...Full Text Available

231

ORNL `90  

Energy Technology Data Exchange (ETDEWEB)

This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)

1990-12-31

232

ORNL '90  

Energy Technology Data Exchange (ETDEWEB)

This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)

1990-01-01

233

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C  

UK PubMed Central (United Kingdom)

Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant...Full Text Available

2010-02-01

234

Mutations at the accommodation gate of the ribosome impair RF2-dependent translation termination  

UK PubMed Central (United Kingdom)

During protein synthesis, aminoacyl-tRNA (aa-tRNA) and release factors 1 and 2 (RF1 and RF2) have to bind at the catalytic center of the ribosome on the 50S subunit where they take part in peptide bond...Full Text Available

2010-09-01

235

Mutations Affecting Motifs of Unknown Function in the Central Domain of Nitrogen Regulatory Protein C  

UK PubMed Central (United Kingdom)

The positive control function of the bacterial enhancer-binding protein NtrC resides in its central domain, which is highly conserved among activators of ς54 holoenzyme. Previous...Full Text Available

1999-09-01

236

Molecular characterization of cap3A, a gene from the operon required for the synthesis of the capsule of Streptococcus pneumoniae type 3: sequencing of mutations responsible for the unencapsulated phenotype and localization of the capsular cluster on the pneumococcal chromosome.  

UK PubMed Central (United Kingdom)

The complete nucleotide sequence of the cap3A gene of Streptococcus pneumoniae, which is directly responsible for the transformation of some unencapsulated, serotype 3 mutants to the encapsulated phenotype,...Full Text Available

1994-10-01

237

Metabolomic analysis of the plant pathogenic fungi Fusarium graminearum and Fusarium culmorum  

Environmental Research Database

DescriptionThis project is part of the BBSRCs special initiative on plant and microbial metabolomics. The project will primarily focus on the trichothecene mycotoxin producing Ascomycete fungus Fusarium graminearum (Fg) which causes ear blight disease of small grain cereals. The project aims to explore the metabolome of various wild-type and single gene deletion Fg strains and to compare some of these with the identical gene mutation in the budding yeast, S. cerevisiae (Sc) and the saprophytic filamentous [continued...

2008-01-31

238

Mechanism of radiation induced carcinogenesis: does a threshold exist?  

International Nuclear Information System (INIS)

Epidemiological studies will not solve the shape of the dose effect curve for stochastic effects in the low dose range. Unicellular processes are necessary for the primary processes so that no threshold dose exists. This is evident for somatic and genetic mutations. Not clearly solved is this question for the complex carcinogenesis. These processes develop with manifold interacting molecular and cellular steps. (orig.).

1996-10-23

239

Mapping of the human cone transducin {alpha} subunit (GNAT2) gene to 1p13 and mutation analysis in patients with Stargardt`s disease  

Energy Technology Data Exchange (ETDEWEB)

Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for mutations in the coding region of the GNAT2 gene using polymerase ...

1994-09-01

240

Induced mutation in narrow-leafed lupin improvement: An example of herbicide tolerance  

International Nuclear Information System (INIS)

Spontaneous mutation has been discovered and utilized in domestication of narrow-leafed lupin (Lupinus angustifolius L.). As the result of the domestication, lupin has become a dominant grain legume crop in Western Australia. Facing the new challenge of developing herbicide tolerance cultivars, chemical mutagenesis has been used to create new tolerance to herbicide. This paper reports the characterization of two lupin mutants (Tanjil-AZ-33 and Tanjil-AZ-55) that are highly tolerant to metribuzin herbicide. A dose response study over 8 doses revealed that Tanjil-AZ-33 was 6 times more tolerant to metribuzin than the original parental cultivar Tanjil by measure of LD50. This mutant Tanjil-AZ-33 is the most tolerant germplasm in narrow-leafed lupin. Both mutants also maintain the high resistance to the disease anthracnose as cv Tanjil. Seed yield based on small field plots (3.6 m"2) under irrigation was 4.2 t/ha for Tanjil-AZ-33 and 1.9 t/ha for Tanjil when the ...

2008-08-12

241

Induced mutation in Lupinus mutabilis sweet in Peru  

International Nuclear Information System (INIS)

Mutagenesis of Lupinus mutabilis was started at the UNA LM (Peru) to obtain mutants with low alkaloid content and early germination. Varieties SCG 25 and Lib 020 were irradiated with gamma radiation. The optimum dose for the SCG 25 variety was 15 Krad and for Lib 020 15 to 20 Krad. The relation between the plant height and radiation dose fits the quadratic polynomial model.

1984-04-01

242

High yielding mutants in sesamum  

International Nuclear Information System (INIS)

Mutation breeding in one of the cultigens TMV-5 in Sesamum is undertaken with 5 kr, 10 kr, 15 kr, 20 kr, 60 kr and 80 kr, dosages of gamma-rays. 60 kr and 80 kr dosages were found to be lethal from the complete failure of seed germination. The mutagen had a heterotic effect on the different characters and the promising variants obtained in this programme are proposed to be maintained by pureline breeding for their possible release as new varieties. (author).

243

Handling boundary constraints for numerical optimization by particle swarm flying in periodic search space  

CERN Document Server

The periodic mode is analyzed together with two conventional boundary handling modes for particle swarm. By providing an infinite space that comprises periodic copies of original search space, it avoids possible disorganizing of particle swarm that is induced by the undesired mutations at the boundary. The results on benchmark functions show that particle swarm with periodic mode is capable of improving the search performance significantly, by compared with that of conventional modes and other algorithms.

2005-01-01

244

Genetic and somatic effects in animals maintained on tritiated water  

Energy Technology Data Exchange (ETDEWEB)

The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)

1981-01-01

245

Gene silencing induced by oxidative DNA base damage: association with local decrease of histone H4 acetylation in the promoter region  

UK PubMed Central (United Kingdom)

Oxidized DNA bases, particularly 7,8-dihydro-8-oxoguanine (8-oxoG), are endogenously generated in cells, being a cause of carcinogenic mutations and possibly interfering with gene expression. We found...Full Text Available

2010-07-01

246

Expression of V642 APP mutant causes cellular apoptosis as Alzheimer trait-linked phenotype.  

UK PubMed Central (United Kingdom)

APP is a transmembrane precursor of beta-amyloid. In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. Here we show that...Full Text Available

1996-02-01

247

Evolution of Hepatitis B Virus in a Chronic HBV-Infected Patient over 2 Years  

UK PubMed Central (United Kingdom)

Mutations in full-length HBV isolates obtained from a chronic HBV-infected patient were evaluated at three time points: 1 day, 6 months, and 31 months. While 5 nucleotides variation, and an 18 bp...Full Text Available

2011-01-01

248

Evaluation of radiation induced sesame mutants as affected by some micro nutrients  

International Nuclear Information System (INIS)

Tow experiments were carried out in 1981 and 1982 growth seasons at the greenhouse of the department of agriculture for soils and water researches, atomic energy authority, at inshas, to investigate the responses of two mutation derived lines of sesame and the local cultivar giza 25 to the application of micro nutrients. The possible effect of radiation on germination and growth of sesame seed was also studied in a separate experiment conducted in 1985 season, at inshas.

249

Ephrin B1 Regulates Bone Marrow Stromal Cell Differentiation and Bone Formation by Influencing TAZ Transactivation via Complex Formation with NHERF1?  

UK PubMed Central (United Kingdom)

Mutations of ephrin B1 in humans result in craniofrontonasal syndrome. Because little is known of the role and mechanism of action of ephrin B1 in bone, we examined the function of osteoblast-produced...Full Text Available

2010-02-01

250

Effect of mutations in HNF-1#alpha# and HNF-1#beta# on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells  

International Nuclear Information System (INIS)

Mutations in transcription factors hepatocyte nuclear factors (HNF)-1#alpha# and HNF-1#beta# cause maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. HNF-1#alpha# and HNF-1#beta# mutations are well studied in some tissues, but the mechanism by which HNF-1#alpha# and HNF-1#beta# mutations affect sucrase-isomaltase (SI) transcription in the small intestine is unclear. We studied the effects of 13 HNF-1#alpha# mutants and 2 HNF-1#beta# mutants on human SI gene transcription, which were identified in subjects with MODY3 and MODY5, respectively. Transactivation activity of 11 HNF-1#alpha# and 2 HNF-1#beta# mutants was significantly lower than that of wild (wt)-HNF-1#alpha# and wt-HNF-1#beta#. Furthermore, in co-expression studies with mutant (mu)-HNF-1#alpha#/ wt-HNF-1#beta# and wt-HNF-1#alpha#/mu-HNF-1#beta#, the combination of mu-HNF-1#alpha# (P379fsdelCT and T539fsdelC)/wt-HNF-1#beta# impaired SI ...

2004-12-03

251

Disruption of the ATP-binding Cassette B7 (ABTM-1/ABCB7) Induces Oxidative Stress and Premature Cell Death in Caenorhabditis elegans*  

UK PubMed Central (United Kingdom)

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes...Full Text Available

2011-06-17

252

Comparison of the genetic effects of equimolar doses of ENU and MNU: While the chemicals differ dramatically in their mutagenicity in stem-cell spermatogonia, both elicit very high mutation rates in differentiating spermatogonia  

UK PubMed Central (United Kingdom)

Mutagenic, reproductive, and toxicity effects of two closely related chemicals, ethylnitrosourea (ENU) and methylnitrosourea (MNU), were compared at equimolar and near-equimolar doses in the...Full Text Available

2007-03-01

253

Comparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function  

UK PubMed Central (United Kingdom)

BackgroundATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked...Full Text Available

254

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene  

UK PubMed Central (United Kingdom)

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%....Full Text Available

255

Daily | Best sexual wellness info - Part 2  

Wastenet

...Box Contains One Month Supply Dietary supplement with a premium patented formula of L-Arginine, Ginseng, Ginkgo plus 13 essential vitamins, antioxidants, and minerals to support male sexual function . ArginMax for Male Sexual Fitness is a patented combination of l-Arginine, Ginseng, Ginkgo, and 13 essential vitamins and ...

256

Acaricidal effects of herb essential oils against Dermatophagoides farinae and D. pteronyssinus (Acari: Pyroglyphidae) and qualitative analysis of a herb Mentha pulegium (pennyroyal)  

UK PubMed Central (United Kingdom)

This experiment was undertaken to screen the acaricidal effects of herb essential oils (pennyroyal, ylang ylang, citronella, lemon grass, tea tree, and rosemary) at different doses (0.1, 0.05, 0.025,...Full Text Available

2006-06-01

257

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity  

British Library Electronic Table of Contents (United Kingdom)

Coutinho MF, Encarnao M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigals O, Prata MJ, Alves S. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. ...

2011-01-01

258

Negative Ames-test of cis-di(thiocyanato)-N,N'-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye of the nanocrystalline TiO{sub 2} solar cell  

Energy Technology Data Exchange (ETDEWEB)

Dye-sensitized nanocrystalline TiO{sub 2} solar cells are currently under development. Since these cells contain an electrolyte solution we reviewed the health and safety aspects in view of indoor applications, where personal contact cannot be excluded. Only small amounts of chemicals are present in each cell and so there is no danger of acute toxicity. However, long-term effects often can be caused by incidental contact with minute amounts. For this reason we have tested cis-di(thiocyanato)-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye in the Ames test. The dye was not mutagenic in the Salmonella typhimurium reverse mutation assay and in the Escherichia coli reverse mutation assay.

2000-01-01

259

Induction of mutation in Trichoderma viride for conversion of natural cellulose into glucose  

Energy Technology Data Exchange (ETDEWEB)

The production of cellulolytic enzymes from fungi has been extensively studied. Several mutants of Trichoderma reesei were selected. Most of the studies were carried out on T. reesei, T. viride, T. harzianum, Penicillium funiculosum, Altemaria alternata. Aspergillus phoenicis, A. ustus, A. tamarii, A. japonicus, and A. niger. T. koningii is one of the most active producers of the so-called C, factor, which is indispensable for the rapid and extensive attack on crystal-line cellulose. However, Trichodenna is known to excrete only small amounts of {beta}-glucosidase. Therefore, Trichoderma is supplemented with {beta}-glucosidase from Aspergillus to increase the saccharification rate of cellulose to glucose as the main sugar. Induction of mutations in Trichodenna spp. rather than T. viride as a tool for the enhancement of {beta}-glucosidase activity was reported. Unfortunately, T. reesei is a poor producer of {beta}-glucosidase. On the other hand, T. harzianum M{sub ...

1991-12-31

260

Improvement of banana through biotechnology and mutation breeding  

International Nuclear Information System (INIS)

Protocols were standardized for in vitro propagation of several elite and diverse banana accessions using shoot tip explants. Tissue culture raised plants were field planted at multiple locations. Studies were undertaken for the induction of mutations using multiple shoot cultures of six selected cultivars, Shreemanti (AAA), Basrai (AAA), Lal Kela (AAA), Rasthali (AAB), Karibale Monthan (ABB) and a wild diploid (BB). These shoot cultures were irradiated at different doses of gamma rays (0-100 Gy) and subcultured thrice (up to M_1V_3) to separate shimeras, followed by induction of rooting (M_1V_4). In general, the rate of multiplication had a negative association with the dose of gamma rays. Enhanced multiplication of shoots was noticed at lower doses. The proliferation of shoots was arrested beyond 50 Gy and a dose of 70 Gy was completely lethal for all the genotypes studied. The rooted plantlets were hardened in the green house and in the early stages of field ...

1998-10-01

261

Development of radiological emergency preparedness and biological dosimetry technology  

Energy Technology Data Exchange (ETDEWEB)

Large-scale field tracer experiments have been conducted on Ulchin and Wolsung nuclear sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear site. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. Both processes of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of biological research for the radiation protection had contained the search of biological microanalytic methods for the assessment of health effect by radiation and toxic agents, ...

1999-04-01

262

Construction and evaluation of a double mutant of Shigella flexneri as a candidate for oral vaccination against shigellosis.  

Science.gov (United States)

Based on studies on the genetic and molecular basis of Shigella flexneri invasive properties, we have constructed and evaluated a double mutant of S. flexneri serotype 5 for utilization as a live attenuated oral vaccine against shigellosis. The first mutation, icsA, blocks intracellular spread of bacteria as well as cell-to-cell infection. It affects the capacity of the invasive pathogen to form large abscesses in epithelia. The second mutation, iuc, eliminates production of the siderophore aerobactin thus impairing growth of the bacterium within tissues. This double mutant, SC5700 appeared safe when administered intragastrically to macaque monkeys as three doses (5 x 10(10) c.f.u. each) at weekly intervals. Protection against a challenge by the wild type isolate (M90T) was observed 4 weeks after the last vaccine inoculation. Duration of carriage was considerably reduced as compared to the control group in which all animals had developed severe ...

1989-10-01

263

Characterization of the heterokaryotic and vegetative diploid phases of Magnaporthe grisea  

Energy Technology Data Exchange (ETDEWEB)

The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in meiosis has been ...

1984-01-01

264

Calmodulin Kinase II Interacts with the Dopamine Transporter C Terminus to Regulate Amphetamine-Induced Reverse Transport  

DEFF Research Database (Denmark)

Efflux of dopamine through the dopamine transporter (DAT) is critical for the psychostimulatory properties of amphetamines, but the underlying mechanism is unclear. Here we show that Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) plays a key role in this efflux. CaMKIIalpha bound to the distal C terminus of DAT and colocalized with DAT in dopaminergic neurons. CaMKIIalpha stimulated dopamine efflux via DAT in response to amphetamine in heterologous cells and in dopaminergic neurons. CaMKIIalpha phosphorylated serines in the distal N terminus of DAT in vitro, and mutation of these serines eliminated the stimulatory effects of CaMKIIalpha. A mutation of the DAT C terminus impairing CaMKIIalpha binding also impaired amphetamine-induced dopamine efflux. An in vivo role for CaMKII was supported by chronoamperometry measurements showing reduced amphetamine-induced dopamine efflux in response to the CaMKII inhibitor KN93. Our data suggest that ...

2006-01-01

265

Analysis of the roles of E6 binding to E6TP1 and nuclear localization in the human papillomavirus type 31 life cycle  

British Library Electronic Table of Contents (United Kingdom)

The E6 oncoproteins of high-risk human papillomaviruses provide important functions not only for malignant transformation but also in the productive viral life cycle. E6 proteins have been shown to bind to a number of cellular factors, but only a limited number of analyses have investigated the effects of these interactions on the viral life cycle. In this study, we investigated the consequences of HPV 31 E6 binding to E6TP1, a putative Rap1 GAP protein. HPV 16 E6 has been shown to bind as well as induce the rapid turnover of E6TP1, and similar effects were observed with HPV 31 E6. Mutation of amino acid 128 in HPV 31 E6 was found to abrogate the ability to bind and degrade E6TP1 but did not alter binding to another ?-helical domain protein, E6AP. When HPV 31 genomes containing mutations a...

2007-01-01

266

Alteration of alpha 1 Na+,K(+)-ATPase "8"6Rb"+ influx by a single amino acid substitution  

International Nuclear Information System (INIS)

The sodium- and potassium-dependent adenosine triphosphatase (Na+,K(+)-ATPase) maintains the transmembrane Na+ gradient to which is coupled all active cellular transport systems. The R and S alleles of the gene encoding the Na+,K(+)-ATPase alpha 1 subunit isoform were identified in Dahl salt-resistant (DR) and Dahl salt-sensitive (DS) rats, respectively. Characterization of the S allele-specific Na+,K(+)-ATPase alpha 1 complementary DNA identified a leucine substitution of glutamine at position 276. This mutation alters the hydropathy profile of a region in proximity to T3(Na), the trypsin-sensitive site that is only detected in the presence of Na+. This mutation causes a decrease in the rubidium-86 influx of S allele-specific sodium pumps, thus marking a domain in the Na+,K(+)-ATPase alpha subunit important for K+ transport, and supporting the hypothesis of a putative role of these pumps in hypertension.

267

Search for new essential oils from medicinal plants in thai tropical forests  

Energy Technology Data Exchange (ETDEWEB)

Eighteen species of Thai rutaceous plants were investigated for their essential oil contents and compositions. Of these plants, four genera belong to the tribe Citreae. Monoterpenes and sesquiterpenes were commonly found in the essential oils of these plants species while phenylpropanoids were present only as minor components. The distribution of these monoterpenes and sesquiterpenes in each plant produce its characteristic smell. The plants of Clauseneae appeared to be rich sources of sesquiterpenes while these of Citreae were found to contain both monoterpenes and sesquiterpenes. In terms of chemical composition, one hundred and forty-three components were detected from the 18 selected rutaceous plants. The distribution and diversity of these components among the selected plants have been discussed. (author)

1999-12-16

268

Inborn Errors of Metabolism Presenting in Childhood  

British Library Electronic Table of Contents (United Kingdom)

Abstract Neurodegenerative and neurometabolic disorders may cause significant morbidity and mortality in children. Imaging is important in early diagnosis of metabolic disorders and in determining the extent of brain injury. Especially after the development of new techniques such as diffusion-weighted magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), neuroimaging plays more important role in the diagnosis and management of these disorders. In these disorders, usually a mutation causes a clinically significant block in one or more metabolic pathways. This blockage usually results in either a deficiency of the product or in an accumulation of substrate with damage induced by either storage or toxicity. The presenting symptoms are usually nonspecific. In some of the ...

2011-01-01

269

Effect of ionizing radiation and chemical mutagens on vegetatively reproducing plants. Deistvie ioniziruyushchikh izluchenii i khimicheskikh mutagenov na vegetativno razmnozhaemye rasteniya  

Energy Technology Data Exchange (ETDEWEB)

A study is made of plant sensitivity to mutagens during the processing of seeds. An examination is made of problems concerned with modification mutability, the nature of plant restoration following irradiation. Particular attention is given to mutation changes. A presentation is made of several features of mutant changes initially selected by separate indicators. An examination is made of the possible study of mutant indicator genetics. General data on the forms and varieties produced by the mutagenesis method are given. The book is designed for breeding specialists and geneticists engaged in the study of mutagenesis. 439 references, 27 figures, 66 table.

1981-01-01

270

The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3  

Energy Technology Data Exchange (ETDEWEB)

Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse ...

1996-08-01

271

GLUE-IT and PEDEL-AA: new programmes for analyzing protein diversity in randomized libraries.  

Science.gov (United States)

There are many methods for introducing random mutations into nucleic acid sequences. Previously, we described a suite of programmes for estimating the completeness and diversity of randomized DNA libraries generated by a number of these protocols. Our programmes suggested some empirical guidelines for library design; however, no information was provided regarding library diversity at the protein (rather than DNA) level. We have now updated our web server, enabling analysis of translated libraries constructed by site-saturation mutagenesis and error-prone PCR (epPCR). We introduce GLUE-Including Translation (GLUE-IT), which finds the expected amino acid completeness of libraries in which up to six codons have been independently varied (according to any user-specified randomization scheme). We provide two tools for assisting with experimental design: CodonCalculator, for assessing amino acids corresponding to given randomized codons; and AA-Calculator, for finding ...

2008-04-28

272

Apoptotic pathways as regulators of recombination  

International Nuclear Information System (INIS)

Apoptosis, or programmed cell death (PCD), is a fundamental process that protects organismal integrity. In earlier work, we demonstrated that over-expression of either of two anti-apoptotic members of the BCL-2 family (BCL-2 or BCL-X L could elevate the frequency of radiation-induced mutations at the autosomal TK1 locus in human TK6 lymphoblasts that express wild-type TP53. Ectopic expression of BCL-X L also elevated the frequencies of double-strand break-induced gene conversion. The purpose of this study is to determine if BCL-2 family proteins promote radiation mutagenesis indirectly through their suppression of PCD, or whether the 'pro-mutagenic' function of these proteins can be separated from their anti-apoptotic function. We developed stable transfectants of TK6 cells that express a mutated form of BCL-X L with a single amino acid substitution in the BH1 domain that is known to interfere with the ability to suppress PCD (BCL-X L ...

2003-08-17

273

Alteration of nucleoside diphosphate binding specificity of E. coli elongation factor Tu (EF-Tu) by single amino acid substitution at position 138  

International Nuclear Information System (INIS)

A single amino acid substitution (Asp #-># Asn) at position 138 of E. coli EF-Tu was induced in the tufA gene by an M13 phage oligonucleotide site-directed mutagenesis protocol. The mutated tufA gene was then subcloned in a plasmid vector and expressed in maxicells. The properties of ["3"5S]methionine labelled mutant and wild type EF-Tu's were compared by in vitro assays. Mutant and wild-type EF-Tu's bound EF-Ts with approximately equal affinities. The 138-Asn mutation greatly reduced the protein's affinity for GDP; however, this mutation dramatically increased the proteins affinity for XDP. The mutant protein forms a stable complex with phe-tRNA and XTP, which binds to ribosomes; whereas, it does not form a complex with phe-tRNA and GTP. These results suggest that in EF-Tu x NDP complexes amino acid residue 138 must interact with the substituent on C-2 of the purine ring. Thus in wild-type EF-Tu Asp-138 would H-bond to ...

1987-06-07

274

misty somites, a maternal effect gene identified by transposon-mediated insertional mutagenesis in zebrafish that is essential for the somite boundary maintenance  

UK PubMed Central (United Kingdom)

Somite boundary formation is crucial for segmentation of vertebrate somites and vertebrae and skeletal muscle morphogenesis. Previously, we developed a Tol2 transposon-mediated...Full Text Available

2008-04-15

275

Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis  

UK PubMed Central (United Kingdom)

Wiskott-Aldrich syndrome protein (WASp) is essential for optimal T cell activation. Patients with WAS exhibit both immunodeficiency and a marked susceptibility to systemic autoimmunity. We investigated...Full Text Available

2007-02-01

276

Vitamin E Is Essential for Seed Longevity and for Preventing Lipid Peroxidation during Germination  

UK PubMed Central (United Kingdom)

Tocopherols (vitamin E) are lipophilic antioxidants synthesized by all plants and are particularly abundant in seeds. Despite cloning of the complete suite of tocopherol biosynthetic enzymes and successful...Full Text Available

2004-06-01

277

Validation of Cultivation and PCR Methods for Diagnosis of Lyme Neuroborreliosis?  

UK PubMed Central (United Kingdom)

Borrelial infection may manifest with a wide range of clinical signs, and in many cases, microbiological findings are essential for a proper diagnosis. This study included 48 patients with a working...Full Text Available

2008-10-01

278

Using knowledge brokers to facilitate the uptake of pediatric measurement tools into clinical practice: a before-after intervention study  

UK PubMed Central (United Kingdom)

BackgroundThe use of measurement tools is an essential part of good evidence-based practice; however, physiotherapists (PTs) are not always confident when selecting, administering,...Full Text Available

279

Turbine air intake treatment  

Energy Technology Data Exchange (ETDEWEB)

Gas turbine component protection remains essential but environmental regulations emphasize the gas-turbine efficiency. Heating and cooling are features often integrated into the GI air intake packages to provide the optimum operating conditions. This paper describes modern inlet air treatment systems and discusses their effectiveness. (author)

1999-07-01

280

Tumour suppressor ING1b maintains genomic stability upon replication stress  

UK PubMed Central (United Kingdom)

The lesion bypass pathway, which is regulated by monoubiquitination of proliferating cell nuclear antigen (PCNA), is essential for resolving replication stalling due to DNA lesions. This process is...Full Text Available

2011-05-01

281

Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1  

UK PubMed Central (United Kingdom)

Known vertebrate GATA proteins contain two zinc fingers and are required in development, whereas invertebrates express a class of essential proteins containing one GATA-type zinc finger. We isolated...Full Text Available

2001-04-02

282

Toward Dietary Assessment via Mobile Phone Video Cameras  

UK PubMed Central (United Kingdom)

Reliable dietary assessment is a challenging yet essential task for determining general health. Existing efforts are manual, require considerable effort, and are prone to underestimation and misrepresentation...Full Text Available

2010-01-01

283

Thymol, a constituent of thyme essential oil, is a positive allosteric modulator of human GABAA receptors and a homo-oligomeric GABA receptor from Drosophila melanogaster  

UK PubMed Central (United Kingdom)

The GABA-modulating and GABA-mimetic activities of the monoterpenoid thymol were explored on human GABAA and Drosophila melanogaster...Full Text Available

2003-12-01

284

The requirement of yeast replication origins for pre-replication complex proteins is modulated by transcription  

UK PubMed Central (United Kingdom)

The mini-chromosome maintenance proteins Mcm2–7 are essential for DNA replication. They are loaded onto replication origins during G1 phase of the cell cycle to form a pre-replication complex...Full Text Available

2005-01-01

285

The promises and perils of p53  

UK PubMed Central (United Kingdom)

Five studies show that disabling p53, an essential tumour-suppressor protein, improves the efficiency of stem-cell production. Are these results a ‘heads up’ that cancer cells...Full Text Available

2009-08-27

286

The physics of automatic letter sorting  

Science.gov (United States)

The astronomical number of letters handled by the Post Office makes automatic sorting technology essential. Key roles are played by the postcode system and an ink-jet printer that has been developed to use phosphorescent inks.

1988-07-01

287

The neurobiology of social attachment: A comparative approach to behavioral, neuroanatomical, and neurochemical studies*  

UK PubMed Central (United Kingdom)

The formation and maintenance of social bonds in adulthood is an essential component of human health. However studies investigating the underlying neurobiology of such behaviors have been scarce....Full Text Available

2008-11-01

288

The antihypertensive efficacy and tolerability of a low dose combination of ramipril and felodipine ER in mild to moderate essential hypertension.  

UK PubMed Central (United Kingdom)

1. The antihypertensive efficacy and tolerability of a low dose combination of the angiotensin converting enzyme inhibitor ramipril (2.5 mg) and the extended release formulation of the dihydropyridine...Full Text Available

1993-10-01

289

The Candida albicans Dse1 Protein Is Essential and Plays a Role in Cell Wall Rigidity, Biofilm Formation, and Virulence  

UK PubMed Central (United Kingdom)

The fungal pathogen Candida albicans is one of the leading causative agents of death in immunocompromised individuals. It harbors an arsenal of cell wall anchored factors that are implicated...Full Text Available

2011-01-01

290

Tat-Neutralizing Antibodies in Vaccinated Macaques  

UK PubMed Central (United Kingdom)

The human immunodeficiency virus Tat protein is essential for virus replication and is a candidate vaccine antigen. Macaques immunized with Tat or chemically modified Tat toxoid having the same clade...Full Text Available

2003-03-01

291

Synchrony between orientation-selective neurons is modulated during adaptation-induced plasticity in cat visual cortex  

UK PubMed Central (United Kingdom)

BackgroundVisual neurons respond essentially to luminance variations occurring within their receptive fields. In primary visual cortex, each neuron is a filter for stimulus features...Full Text Available

292

Stable isotopes document the trophic structure of a deep-sea cephalopod assemblage including giant octopod and giant squid  

UK PubMed Central (United Kingdom)

Although deep-sea cephalopods are key marine organims, their feeding ecology remains essentially unknown. Here, we report for the first time the trophic structure of an assemblage of these animals (19...Full Text Available

2009-06-23

293

Stabilization of ?-catenin induces pancreas tumor formation  

UK PubMed Central (United Kingdom)

Background & Aimsβ-catenin signaling within the canonical Wnt pathway is essential for pancreas development. However, the pathway is normally down-regulated...Full Text Available

2008-10-01

294

STIMPY mediates cytokinin signaling during shoot meristem establishment in Arabidopsis seedlings  

UK PubMed Central (United Kingdom)

The establishment of the primary meristems through proliferation after germination is essential for plant post-embryonic development. Cytokinins have long been considered a key regulator of...Full Text Available

2010-02-15

295

Research influence on antimalarial drug policy change in Tanzania: case study of replacing chloroquine with sulfadoxine-pyrimethamine as the first-line drug  

UK PubMed Central (United Kingdom)

IntroductionResearch is an essential tool in facing the challenges of scaling up interventions and improving access to services. As in many other countries, the translation of research...Full Text Available

296

Repressive BMP2 Gene Regulatory Elements Near the BMP2 promoter  

UK PubMed Central (United Kingdom)

The level of bone morphogenetic protein 2 (BMP2) profoundly influences essential cell behaviors such as proliferation, differentiation, apoptosis, and migration. The spatial and temporal pattern...Full Text Available

2010-02-05

297

Regulation of basal cellular physiology by the homeostatic unfolded protein response  

UK PubMed Central (United Kingdom)

The extensive membrane network of the endoplasmic reticulum (ER) is physically juxtaposed to and functionally entwined with essentially all other cellular compartments. Therefore, the ER must sense...Full Text Available

2010-05-31

298

Quantitative evaluation of siRNA delivery in vivo  

UK PubMed Central (United Kingdom)

Effective small interfering RNA (siRNA)–mediated therapeutics require the siRNA to be delivered into the cellular RNA-induced silencing complex (RISC). Quantitative information of this essential...Full Text Available

2010-12-01

299

Prolactin Receptor Signaling Is Essential for Perinatal Brown Adipocyte Function: A Role for Insulin-like Growth Factor-2  

UK PubMed Central (United Kingdom)

BackgroundThe lactogenic hormones prolactin (PRL) and placental lactogens (PL) play central roles in reproduction and mammary development. Their actions are mediated via binding...Full Text Available

300

Performance evaluation of an automatic anatomy segmentation algorithm on repeat or four-dimensional CT images using a deformable image registration method  

UK PubMed Central (United Kingdom)

PurposeAuto-propagation of anatomical region-of-interests (ROIs) from the planning CT to daily CT is an essential step in image-guided adaptive radiotherapy. The...Full Text Available

2008-09-01

301

Paradoxical function for the receptor for advanced glycation end products in mouse models of pulmonary fibrosis  

UK PubMed Central (United Kingdom)

Idiopathic pulmonary fibrosis (IPF) is a progressive disease with poor survival. The identification of therapeutic targets is essential to improving outcomes. Previous studies found that expression...Full Text Available

2011-03-31

302

P-glycoprotein and breast cancer resistance protein in acute myeloid leukaemia cells treated with the Aurora-B Kinase Inhibitor barasertib-hQPA  

UK PubMed Central (United Kingdom)

BackgroundAurora kinases play an essential role in orchestrating chromosome alignment, segregation and cytokinesis during mitotic progression, with both aurora-A and B frequently...Full Text Available

303

Ordered Assembly of the Adhesive and Electrochemical Connections within Newly Formed Intercalated Disks in Primary Cultures of Adult Rat Cardiomyocytes  

UK PubMed Central (United Kingdom)

The intercalated disk (ID) is a complex structure that electromechanically couples adjoining cardiac myocytes into a functional syncitium. The integrity of the disk is essential for normal cardiac function,...Full Text Available

2010-01-01

304

Novel Approach for Differential Diagnosis of HIV Infections in the Face of Vaccine-Generated Antibodies  

UK PubMed Central (United Kingdom)

SummaryBecause increasing numbers of HIV vaccine candidates are being tested globally, it is essential to differentiate vaccine-from virus-induced antibodies. Most of the currently...Full Text Available

2006-11-01

305

NSF Centers Will Use Nano-Interface Control and Bioengineering for Materials by Design  

Science.gov (United States)

... materials science and education beyond what is expected from any one Center. "Advanced materials are ... for DMR's Division of Materials Research. "Fundamental research on materials is essential to the ...

306

Molecular Mechanistic Insights into the Endothelial Receptor Mediated Cytoadherence of Plasmodium falciparum-Infected Erythrocytes  

UK PubMed Central (United Kingdom)

Cytoadherence or sequestration is essential for the pathogenesis of the most virulent human malaria species, Plasmodium falciparum (P. falciparum). Similar to leukocyte-endothelium...Full Text Available

307

Molecular Identification and Expression Analysis of Filaggrin-2, a Member of the S100 Fused-Type Protein Family  

UK PubMed Central (United Kingdom)

Genes of the S100 fused-type protein (SFTP) family are clustered within the epidermal differentiation complex and encode essential components that maintain epithelial homeostasis and barrier functions....Full Text Available

308

Molecular Ecology of Pyrethroid Knockdown Resistance in Culex pipiens pallens Mosquitoes  

UK PubMed Central (United Kingdom)

Pyrethroid insecticides have been extensively used in China and worldwide for public health pest control. Accurate resistance monitoring is essential to guide the rational use of insecticides and resistance...Full Text Available

309

Molecular Characterization of Exploitation of the Polyubiquitination and Farnesylation Machineries of Dictyostelium Discoideum by the AnkB F-Box Effector of Legionella Pneumophila  

UK PubMed Central (United Kingdom)

The Dot/Icm-translocated Ankyrin B (AnkB) F-box effector of Legionella pneumophila is essential for intra-vacuolar proliferation and functions as a platform for the docking of polyubiquitinated...Full Text Available

310

Microsatellite-based genetic diversity and population structure of domestic sheep in northern Eurasia  

UK PubMed Central (United Kingdom)

BackgroundIdentification of global livestock diversity hotspots and their importance in diversity maintenance is essential for making global conservation efforts. We screened 52...Full Text Available

311

Methane conversion process using phosphate-containing catalysts  

Energy Technology Data Exchange (ETDEWEB)

A process is described for covering methane to a higher order hydrocarbon comprising contacting a gaseous reactant consisting of methane with a phosphate-containing catalyst for a sufficient period of time and at an effective temperature to provide the phosphate-containing catalyst consisting essentially of the higher order hydrocarbon. The catalyst is represented by a formula.

1987-05-12

312

Mammalian target of rapamycin signaling modulates photic entrainment of the suprachiasmatic circadian clock  

UK PubMed Central (United Kingdom)

Inducible gene expression appears to be an essential event that couples light to entrainment of the master mammalian circadian clock located in the suprachiasmatic nucleus (SCN) of the hypothalamus....Full Text Available

2010-05-05

313

Making the message clear: visualizing mRNA localization  

UK PubMed Central (United Kingdom)

Localized mRNA provides spatial and temporal protein expression essential to cell development and physiology. To explore the mechanisms involved, considerable effort has been spent in establishing new...Full Text Available

2010-07-01

314

Ixodes scapularis tick serine proteinase inhibitor (serpin) gene family; annotation and transcriptional analysis  

UK PubMed Central (United Kingdom)

BackgroundSerine proteinase inhibitors (Serpins) are a large superfamily of structurally related, but functionally diverse proteins that control essential proteolytic pathways in...Full Text Available

315

Ion beam pulsing for time of flight (TOF) experiments  

Energy Technology Data Exchange (ETDEWEB)

The essential mechanical and electronic parts of a beam pulsing system are described, which reaches an energy resolution of ..delta..E/E=0.1%-0.4% in the energy range from 100 eV and 10 keV.

1985-01-01

316

Interleukin-7 mediates glucose utilization in lymphocytes through transcriptional regulation of the hexokinase II gene  

UK PubMed Central (United Kingdom)

The cytokine interleukin-7 (IL-7) has essential growth activities that maintain the homeostatic balance of the immune system. Little is known of the mechanism by which IL-7 signaling regulates metabolic...Full Text Available

2010-06-01

317

Insights into Cdc13 dependent telomere length regulation  

UK PubMed Central (United Kingdom)

Cdc13 is a single stranded telomere binding protein that specifically localizes to the telomere ends of budding yeasts and is essential for cell viability. It caps the ends of chromosomes thus preventing...Full Text Available

318

Insect growth regulators and insect control: a critical appraisal.  

UK PubMed Central (United Kingdom)

Insect growth regulators (IGRs) of the juvenile hormone type alter physiological processes essential to insect development and appear to act specifically on insects. Three natural juvenile hormones...Full Text Available

1976-04-01

319

Inhibition of lymphocyte-mediated cytolysis by 3-deazaadenosine: Evidence for a methylation reaction essential to cytolysis  

UK PubMed Central (United Kingdom)

3-Deazaadenosine (deazaAdo) inhibits lymphocyte-mediated cytolysis in vitro at micromolar concentrations and is potentiated markedly in this activity by L-homocysteine thiolactone....Full Text Available

1978-12-01

320

Inelastic x-ray scattering of dense solid oxygen: Evidence for intermolecular bonding  

UK PubMed Central (United Kingdom)

The detailing of the intermolecular interactions in dense solid oxygen is essential for an understanding of the rich polymorphism and remarkable properties of this element at high pressure. Synchrotron...Full Text Available

2008-08-19

321

Improved Understanding of Broadband Lg/P Ratio and Its Application to Discriminating Earthquakes from Explosions, Including Decoupled Shots.  

Science.gov (United States)

An understanding of the mechanism of generation of Lg from underground nuclear explosions is essential for seismic monitoring and source discrimination. Near-source scattering of explosion-generated Rg into S appears to be responsible for the low-frequenc...

1996-01-01

322

Identification of a distant cis-regulatory element controlling pharyngeal arch-specific expression of zebrafish gdf6a/radar  

UK PubMed Central (United Kingdom)

Skeletal formation is an essential and intricately regulated part of vertebrate development. Humans and mice deficient in Growth and Differentiation Factor 6 (Gdf6) have numerous...Full Text Available

2010-04-01

323

Hindwings are unnecessary for flight but essential for execution of normal evasive flight in Lepidoptera  

UK PubMed Central (United Kingdom)

In Lepidoptera, forewings and hindwings are mechanically coupled and flap in synchrony. Flight is anteromotoric, being driven primarily by action of the forewings. Here we report that lepidopterans...Full Text Available

2008-10-28

324

HEARTVIEW-A Knowledge Base to Support Clinical Research in Cardiology  

UK PubMed Central (United Kingdom)

This paper presents HEARTVIEW - a knowledge base (KB) that offers aid for clinical research in cardiology. This KB is an essential component of the medical workstation MW2000, now under development...Full Text Available

1990-11-07

325

Genome-Wide Transcriptional Response of Chemostat-Cultured Escherichia coli to Zinc  

UK PubMed Central (United Kingdom)

Zinc is an essential trace metal ion for growth, but an excess of Zn is toxic and microorganisms express diverse resistance mechanisms. To understand global bacterial responses to excess Zn, we conducted...Full Text Available

2005-02-01

326

Genetic architecture of voluntary exercise in an advanced intercross line of mice  

UK PubMed Central (United Kingdom)

Exercise is essential for health, yet the amount, duration, and intensity that individuals engage in are strikingly variable, even under prescription. Our focus was to identify the locations and effects...Full Text Available

2010-07-01

327

Genetic Analysis of Cytoprotective Functions Supported by Graded Expression of Keap1?  

UK PubMed Central (United Kingdom)

Keap1 regulates Nrf2 activity in response to xenobiotic and oxidative stresses. Nrf2 is an essential regulator of cytoprotective genes. Keap1-null mice are lethal by weaning age due...Full Text Available

2010-06-01

328

Fungal spores: hazardous to health?  

UK PubMed Central (United Kingdom)

Fungi have long been known to affect human well being in various ways, including disease of essential crop plants, decay of stored foods with possible concomitant production of mycotoxins, superficial...Full Text Available

1999-06-01

329

Extracting medical information from narrative patient records: the case of medication-related information  

UK PubMed Central (United Kingdom)

ObjectiveWhile essential for patient care, information related to medication is often written as free text in clinical records and, therefore, difficult to use in computerized systems....Full Text Available

2010-09-01

330

Evolution of the redox function in mammalian Apurinic/apyrimidinic endonuclease  

UK PubMed Central (United Kingdom)

Human apurinic/apyrimidinic endonuclease (hApe1) encodes two important functional activities: an essential base excision repair (BER) activity and a redox activity that regulates expression...Full Text Available

2008-08-25

331

Essential Role of Phox2b-Expressing Ventrolateral Brainstem Neurons in the Chemosensory Control of Inspiration and Expiration  

UK PubMed Central (United Kingdom)

Phox2b-expressing neurons of the retrotrapezoid nucleus (RTN) located in the ventrolateral brainstem are sensitive to changes in PCO2/pH, have excitatory projections...Full Text Available

2010-09-15

332

Emotional enhancement of memory: how norepinephrine enables synaptic plasticity  

UK PubMed Central (United Kingdom)

Changes in synaptic strength are believed to underlie learning and memory. We explore the idea that norepinephrine is an essential modulator of memory through its ability to regulate synaptic mechanisms....Full Text Available

333

Emergence of Switch-Like Behavior in a Large Family of Simple Biochemical Networks  

UK PubMed Central (United Kingdom)

Bistability plays a central role in the gene regulatory networks (GRNs) controlling many essential biological functions, including cellular differentiation and cell cycle control. However, establishing...Full Text Available

2011-05-01

334

Efficient Phagocytosis Requires Triacylglycerol Hydrolysis by Adipose Triglyceride Lipase*  

UK PubMed Central (United Kingdom)

Macrophage phagocytosis is an essential biological process in host defense and requires large amounts of energy. To date, glucose is believed to represent the prime substrate for ATP production in macrophages....Full Text Available

2010-06-25

335

Effects of gamma irradiation on medicinal plants and spices (2): Piper cubeba, piper nigrum, piper retrofractum, amomum cardamomum, and myristica fragrans  

Energy Technology Data Exchange (ETDEWEB)

Effects of gamma irradiation on essential oils of five medicinal plants i.e. dried seeds of piper cubeba(cubeb), piper nigrum(black pepper), piper retrofractum, amomum cardamomum(cardamom) and myristica fragrans(mace), packed in low density polyethylene bag of 0.13 mm thickness have been investigated. After being irradiated at doses of 5 and 10 kGy, a part of the samples was analysed, and the rest were stored for six months at temperature of 30 +- 2 degC, and humidity ranging from 70 to 95%. The essential oil characteristics of control, irradiated and six month stored samples were analysed using infrared and ultraviolet spectrophotometers, HPLC, GLC and refractometer. Other parameters observed were moisture content and essential oil content of the samples. Results showed that irradiation up to a dose of 10 kGy do not give any significant effect on these parameters. Significant changes were only found in the ...

1983-12-01

336

Effect of Edge-Preserving Adaptive Image Filter on Low-Contrast Detectability in CT Systems: Application of ROC Analysis  

UK PubMed Central (United Kingdom)

Objective. For the multislice CT (MSCT) systems with a larger number of detector rows, it is essential to employ dose-reduction techniques. As...Full Text Available

2008-01-01

337

Downstream genes of Pax6 revealed by comprehensive transcriptome profiling in the developing rat hindbrain  

UK PubMed Central (United Kingdom)

BackgroundThe transcription factor Pax6 is essential for the development of the central nervous system and it exerts its multiple functions by regulating the expression of downstream...Full Text Available

338

Disruption of Bidirectional Oocyte-Cumulus Paracrine Signaling During In Vitro Maturation Reduces Subsequent Mouse Oocyte Developmental Competence1  

UK PubMed Central (United Kingdom)

Oocyte-cumulus cell bidirectional communication is essential for normal development of the oocyte and cumulus cells (CCs) within the follicle. We showed recently that addition of recombinant growth...Full Text Available

2009-05-01

339

Differential control of systolic and diastolic blood pressure in blacks with essential hypertension.  

UK PubMed Central (United Kingdom)

OBJECTIVE: The risk of cardiovascular and renal diseases has been shown to be higher for systolic blood pressure than diastolic blood pressure. The aim of this study was to assess the differential control...Full Text Available

2004-03-01

340

Developmental and metabolic regulation of the Drosophila melanogaster 3-hydroxy-3-methylglutaryl coenzyme A reductase.  

UK PubMed Central (United Kingdom)

The enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase in Drosophila melanogaster synthesizes mevalonate for the production of nonsterol isoprenoids, which are essential for growth and...Full Text Available

1988-07-01

341

Dear Colleague Letter - Math and Physical Sciences (DMR)  

Science.gov (United States)

... a priority for each of us in the Division of Materials Research. We especially regard the timely ... to stakeholders why our investment in materials research is essential. We request your help in DMR ...

342

DNA replication in vertebrates requires a homolog of the Cdc7 protein kinase  

UK PubMed Central (United Kingdom)

CDC7 is an essential gene required for DNA replication in Saccharomyces cerevisiae. Cdc7p homologs have recently been identified in vertebrates, but their role in DNA...Full Text Available

1999-03-16

343

Comparative genomics reveals 104 candidate structured RNAs from bacteria, archaea, and their metagenomes  

UK PubMed Central (United Kingdom)

BackgroundStructured noncoding RNAs perform many functions that are essential for protein synthesis, RNA processing, and gene regulation. Structured RNAs can be detected by comparative...Full Text Available

2010-01-01

344

Common Genetic Variants Associate with Serum Phosphorus Concentration  

UK PubMed Central (United Kingdom)

Phosphorus is an essential mineral that maintains cellular energy and mineralizes the skeleton. Because complex actions of ion transporters and regulatory hormones regulate serum phosphorus concentrations,...Full Text Available

2010-07-01

345

Cell Polarity Regulator PARD6B Is Essential for Trophectoderm Formation in the Preimplantation Mouse Embryo1  

UK PubMed Central (United Kingdom)

In preimplantation mouse development, the first cell lineages to be established are the trophectoderm (TE) and inner cell mass. TE possesses epithelial features, including apical-basal cell polarity...Full Text Available

2010-09-01

346

Calcitriol but no other metabolite of vitamin D is essential for normal bone growth and development in the rat.  

UK PubMed Central (United Kingdom)

To determine the relative importance of different metabolites of vitamin D in bone growth and development, weanling male rat pups suckled by vitamin D-deficient mothers were given either calcitriol...Full Text Available

1984-02-01

347

Cadmium, Lead, and Other Metals in Relation to Semen Quality: Human Evidence for Molybdenum as a Male Reproductive Toxicant  

UK PubMed Central (United Kingdom)

BackgroundEvidence on human semen quality as it relates to exposure to various metals, both essential (e.g., zinc, copper) and nonessential (e.g., cadmium, lead), is inconsistent....Full Text Available

2008-11-01

348

Bunyamwera virus can repair both insertions and deletions during RNA replication  

UK PubMed Central (United Kingdom)

The genomic termini of RNA viruses contain essential cis-acting signals for such diverse functions as packaging, genome translation, mRNA transcription, and RNA replication, and thus...Full Text Available

2010-06-01

349

Bif-1 regulates Atg9 trafficking by mediating the fission of Golgi membranes during autophagy  

UK PubMed Central (United Kingdom)

Atg9 is a transmembrane protein essential for autophagy which cycles between the Golgi network, late endosomes and LC3-positive autophagosomes in mammalian cells during starvation through a mechanism...Full Text Available

2011-01-01

350

Antibodies to synthetic peptides from the tubulin regulatory domain interact with tubulin and microtubules.  

UK PubMed Central (United Kingdom)

The carboxyl-terminal region of tubulin alpha and beta subunits plays a major role in regulating its assembly into microtubules and constitutes an essential domain for the selective interaction of microtubule-associated...Full Text Available

1988-09-01

351

An excess of rare genetic variation in ABCE1 among Yorubans and African-American individuals with HIV-1  

UK PubMed Central (United Kingdom)

Signatures of natural selection occur throughout the human genome and can be detected at the sequence level. We have re-sequenced ABCE1, a host candidate gene essential for...Full Text Available

2009-12-01

352

Aluminium. Health and Environmental Hazards.  

Science.gov (United States)

Aluminium is an abundant metal consisting about 8 per cent of the earth's crust. It has long been considered as essentially nontoxic and nonabsorbable from the gastrointestinal tract. More recent studies have, however, due to better analytical capabilitie...

1982-01-01

353

Allosteric Drug Discrimination Is Coupled to Mechanochemical Changes in the Kinesin-5 Motor Core*  

UK PubMed Central (United Kingdom)

Essential in mitosis, the human Kinesin-5 protein is a target for >80 classes of allosteric compounds that bind to a surface-exposed site formed by the L5 loop. Not established is why there...Full Text Available

2010-06-11

354

Activity-Dependent Augmentation of Spontaneous Neurotransmission during Endoplasmic Reticulum Stress  

UK PubMed Central (United Kingdom)

The endoplasmic reticulum (ER) is an essential cellular compartment responsible for Ca2+ sequestration, signaling, protein translation, folding as well as transport. Several acute...Full Text Available

2010-05-26

355

A small RNA promotes siderophore production through transcriptional and metabolic remodeling  

UK PubMed Central (United Kingdom)

Siderophores are essential factors for iron (Fe) acquisition in bacteria during colonization and infection of eukaryotic hosts, which restrain iron access through iron-binding protein, such as lactoferrin...Full Text Available

2010-08-24

356

A Research Agenda for Malaria Eradication: Drugs  

UK PubMed Central (United Kingdom)

Antimalarial drugs will be essential tools at all stages of malaria elimination along the path towards eradication, including the early control or “attack” phase to drive down transmission...Full Text Available

2011-01-01

357

'Sheltered disruption' of Neurospora crassa MOM22, an essential component of the mitochondrial protein import complex.  

UK PubMed Central (United Kingdom)

MOM22 is a component of the protein import complex of the mitochondrial outer membrane of Neurospora crassa. Using the newly developed procedure of 'sheltered disruption', we created a heterokaryotic...Full Text Available

1995-03-15

358

The pharmacological activity of medical herbs after microbiological decontamination by irradiation  

Energy Technology Data Exchange (ETDEWEB)

In the Institute of Nuclear Chemistry and Technology research on microbiological decontamination of medicinal herbs by irradiation has been carried out since 1996. It was shown that using ionizing radiation (a dose of 10 kGy) can obtain satisfactory results of microbiological decontamination of these products. The content of essential biologically active substances such as essential oils, flavonoids, glycosides, anthocyans, antra-compounds, poliphenoloacids, triterpene saponins, oleanosides and plants mucus did not change significantly after irradiation. Pharmacological activity of medicinal herbs has been found satisfactory after microbiological decontamination by irradiation.

2000-03-01

359

Integrated disease management of ascochyta blight in pulse crops  

British Library Electronic Table of Contents (United Kingdom)

Ascochyta blight causes significant yield loss in pulse crops worldwide. Integrated disease management is essential to take advantage of cultivars with partial resistance to this disease. The most effective practices, established by decades of research, use a combination of disease-free seed, destruction or avoidance of inoculum sources, manipulation of sowing dates, seed and foliar fungicides, and cultivars with improved resistance. An understanding of the pathosystems and the inter-relationship between host, pathogen and the environment is essential to be able to make correct decisions for disease control without compromising the agronomic or economic ideal. For individual pathosystems, some components of the integrated management principles may need to be given greater consideration tha...

2007-01-01

360

Discrete vacuum superselection rule in Wightman theory with essentially self-adjoint field operators  

Energy Technology Data Exchange (ETDEWEB)

The main results of earlier work by the author, Sushko, and Khoruzhii describing the algebraic structure of quantum-field systems with (discrete) vacuum superselection rules are generalized to the large class of Wightman theories with essentially self-adjoint field operators (a very strong restriction was imposed on the theory, namely, that the polynomial Op algebra of the Wightman fields /rho/ belongs to the class II, i.e., /rho/ /sub s'/ =/rho/ /sub w'/). It is also shown that the field Op algebra of a Wightman theory with discrete vaccum superselection rule possesses a class II extension.

1986-07-01

361

Bacterial radiosensitization by using radiation processing in combination with essential oil: Mechanism of action  

Energy Technology Data Exchange (ETDEWEB)

Spice extracts under the form of essential oils were tested for their efficiency to increase the relative radiosensitivity of Listeria monocytogenes and Escherichia coli O157H7 in culture media. The two pathogens were treated by gamma-irradiation alone or in combination with oregano essential oil to evaluate their mechanism of action. The membrane murein composition, and the intracellular and extracellular concentration of ATP was determined. The bacterial strains were treated with two irradiation doses: 1.2 kGy to induce cell damage and 3.5 kGy to cause cell death for L. monocytogenes. A dose of 0.4 kGy to induce cell damages, 1.1 kGy to obtain viable but nonculturable (VBNC) state and 1.3 kGy to obtain a lethal dose was also applied on E. coli O157H7. Oregano essential oil was used at 0.020% and 0.025% (w/v), which is the minimum inhibitory concentration (MIC) for L. monocytogenes. For E. coli O157H7, a concentration of ...

2009-07-15

362

The effects of chemicals in the presence of cellophane on X-ray-induced point mutation and gene conversion in Aspergillus midulans  

International Nuclear Information System (INIS)

The presence of washed or unwashed cellophane alone or together with a bleomycin, mitomycin C or hydrochlorothiazide, ('Esidrex') showed no appreciable effect on survival of either unirradiated or irradiated conidia. Irradiation for a period of 20min reduced the survival of conidia to 20%. The growth of irradiated conidia in the presence of bleomycin, mitomycin C or Esidrex is associated with a 2- to 3-fold increase in the frequency of gene convertants, but was not accompanied by an increase in point mutants. When conidia were grown on cellophane but otherwise treated as before the frequency of gene convertants was increased 8-fold, but induction of point mutants was negligible. This effect was the same for irradiated and unirradiated conidia. The environment created by the cellophane in contract with the medium appears to affect the action of each of the three compounds synergistically. (author).

363

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein  

British Library Electronic Table of Contents (United Kingdom)

DFNA5 was first identified as a gene causing autosomal dominant hearing loss (HL). Different mutations have been found, all exerting a highly specific gain-of-function effect, in which skipping of exon 8 causes the HL. Later reports revealed the involvement of the gene in different types of cancer. Epigenetic silencing of DFNA5 in a large percentage of gastric, colorectal and breast tumors and p53-dependent transcriptional activity have been reported, concluding that DFNA5 acts as a tumor suppressor gene in different frequent types of cancer. Despite these data, the molecular function of DFNA5 has not been investigated properly. Previous transfection studies with mutant DFNA5 in yeast and in mammalian cells showed a toxic effect of the mutant protein, which was not seen after transfection ...

2011-01-01

364

Prostate cancer immunology - an update for Urologists  

British Library Electronic Table of Contents (United Kingdom)

A better understanding of the immune processes in the pathogenesis and progression of prostate cancer (CaP) may point the way towards improved treatment modalities. The challenge is to amplify immune responses to combat tumour escape mechanisms. Infection and inflammation may have a role in prostate carcinogenesis, including the newly discovered xenotropic murine leukaemia virus (XMRV). These inflammatory states damage defence mechanisms and induce a high proliferative state favouring further mutation and impaired immune surveillance. With this knowledge we are able to explore the use of immunotherapy to rejuvenate the immune system in combating CaP. Recently Sipuleucel-T, an immunotherapeutic agent for metastatic androgen independent CaP, has resulted in improved survival and might be the...

2011-01-01

365

New Public Management et professions dans l'Etat : au-dela des oppositions, quelles recompositions ?  

British Library Electronic Table of Contents (United Kingdom)

More and more reforms in public administrations are being conducted that are based on the principles and instruments of ''new public management''. They have set off protest and collective actions by several professional groups in various sectors (health, education, justice, social work, research...), whence questions about the future of professional groups in public services, in particular about their autonomy, which these reforms threaten. The opposition between this new public management and certain professional groups, is not the final explanation to draw from an analysis of this situation. Should these changes be seen as the decline of professional groups and of their autonomy, as a mutation of professional models, an overhaul of professionalism, etc.? These questions, which current ev...

2011-01-01

366

Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men  

British Library Electronic Table of Contents (United Kingdom)

Summary CAG trinucleotide repeat length in the nuclear polymerase gamma gene (POLg) has been shown to be associated with men with reduced fertility. The present study investigated the frequency of CAG repeat length genotypes and three exonuclease motifs of the POLg in relation to the frequency of mitochondrial nucleotide substitutions. DNA from semen samples of 93 normozoospermic men and 192 non-normozoospermic men was isolated and the specific regions of the genes were amplified by polymerase chain reactions (PCR) and sequenced to identify mutations. The genotypic frequencies of pooled POLg CAG repeat lengths, =10/!=10 heterozygotes and !=10/!=10 homozygotes, were significantly different between normozoospermic and non-normozoospermic men (p p POLg genotype. Of the 17 men with non-synonym...

2006-01-01

367

Identification of a functional nuclear export signal in the green fluorescent protein asFP499  

International Nuclear Information System (INIS)

The green fluorescent protein (GFP) asFP499 from Anemonia sulcata is a distant homologue of the GFP from Aequorea victoria. We cloned the asFP499 gene into a mammalian expression vector and showed that this protein was expressed in the human lymphoblast cell line Ramos RA1 and in the embryonic kidney 293T cell line (HEK 293T). In HEK 293T cells, asFP499 was localized mainly in the cytoplasm, suggesting that the protein was excluded from the nucleus. We identified _1_9_4LRMEKLNI_2_0_1 as a candidate nuclear export signal in asFP499 and mutated the isoleucine at position 201 to an alanine. Unlike the wildtype form, the mutant protein was distributed throughout the cytoplasm and nucleus. This is First report of a GFP that contains a functional NES.

2006-04-21

368

IAEA RESEARCH CONTRACTS FIRST ANNUAL REPORT. Technical reports Series No. 4  

Science.gov (United States)

Summaries are included of research contracts which expired prior to Dec. 31, 1960. The contracts were concerned with investigations of: electrophysiological responses of biological systems in nerve cells to irradiation with small doses of ionizing radiations; the mode of the protective action of certain sulfhydryl compounds against radiation effects on the synthesis of deoxyribonucleic acid, using tritium-labeled thymidine; development of a bubble chamber method of monitoring and dosimetry for Low fast neutron fluxes; effects of incorporated radioisotopes on the stability of genetic materials; interrelation of root and leaf absorption of radioisotopes in herbaceous plants; uptake of radioactive wastes by lowland rice from soils contaminated by irrigation water, and decontamination of the rice; and comparison between mutation rates induced by acute and chronic gamma irradiations. (B.O.G.)

1961-01-01

369

Hypoxia decreases sclerostin expression and increases Wnt signaling in osteoblasts  

British Library Electronic Table of Contents (United Kingdom)

Mutations in sclerostin function or expression cause sclerosing bone dysplasias, involving decreased antagonism of Wnt/Lrp5 signaling. Conversely, deletion of the VHL tumor suppressor in osteoblasts, which stabilize HIF-a isoforms and thereby enables HIF-a/b-driven gene transcription, increases bone mineral content and cross-sectional area compared to wild-type controls. We examined the influence of cellular hypoxia (1% oxygen) upon sclerostin expression and canonical Wnt signaling. Osteoblasts and osteocytes cultured under hypoxia revealed decreased sclerostin transcript and protein, and increased expression and nuclear localization of activated b-catenin. Similarly, both hypoxia and the hypoxia mimetic DFO increased b-catenin gene reporter activity. Hypoxia and its mimetics increased exp...

2010-01-01

370

Genetic testing for hereditary cancer: Effects of alexithymia and coping strategies on variations in anxiety before and after result disclosure  

British Library Electronic Table of Contents (United Kingdom)

This study assessed the impact of the results of genetic testing for hereditary cancer from a multifactorial health psychology perspective, considering that emotional expression plays a key role in psychological adjustment. Measures of dispositional and transactional coping strategies, anxiety and alexithymia were filled out by 77 participants in a longitudinal study design. Statistical analyses were performed using general linear models and partial least squares path modelling, low-constraint methods that are particularly useful in the behavioural sciences. While anxiety levels prior to the result announcement were predictive of the distress experienced by noncarriers, considerable variability was observed for mutation carriers. Some subjects who had lower anxiety levels before the test d...

2011-01-01

371

Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters  

British Library Electronic Table of Contents (United Kingdom)

Research on hematological disorders relies on suitable animal models. We retrospectively evaluated the use of the hematological parameters hematocrit (HCT), hemoglobin (HGB), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), red blood cell count (RBC), white blood cell count (WBC), and platelet count (PLT) in the phenotype-driven Munich N-ethyl-N-nitrosourea (ENU) mouse mutagenesis project as parameters for the generation of novel animal models for human diseases. The analysis was carried out on more than 16,000 G1 and G3 offspring of chemically mutagenized inbred C3H mice to detect dominant and recessive mutations leading to deviations in the levels of the chosen parameters. Identification of animals exhibiting altered valu...

2011-01-01

372

Functional and Oncologic Outcomes of Partial Adrenalectomy for Pheochromocytoma in Patients With von Hippel-Lindau Syndrome After at Least 5 Years of Followup  

British Library Electronic Table of Contents (United Kingdom)

PurposeAlthough the safety and feasibility of partial adrenalectomy in patients with von Hippel-Lindau syndrome have been established, long-term outcomes have not been examined. In this study we evaluate the recurrence and functional outcomes in a von Hippel-Lindau syndrome cohort treated for pheochromocytoma with partial adrenalectomy with a followup of at least 5 years. Materials and MethodsWe reviewed the records of patients with von Hippel-Lindau syndrome treated with partial adrenalectomy for pheochromocytoma at the National Cancer Institute. Demographic, germline mutation status, surgical indication, oncologic and functional outcome data were collected. Local recurrence was defined as radiographic evidence of recurrent tumor on the ipsilateral side of partial adrenalectomy. Patients ...

2010-01-01

373

Effects of chemicals in the presence of cellophane on X-ray-induced point mutation and gene conversion in Aspergillus midulans  

Energy Technology Data Exchange (ETDEWEB)

The presence of washed or unwashed cellophane alone or together with a bleomycin, mitomycin C or hydrochlorothiazide, ('Esidrex') showed no appreciable effect on survival of either unirradiated or irradiated conidia. Irradiation for a period of 20min reduced the survival of conidia to 20%. The growth of irradiated conidia in the presence of bleomycin, mitomycin C or Esidrex is associated with a 2- to 3-fold increase in the frequency of gene convertants, but was not accompanied by an increase in point mutants. When conidia were grown on cellophane but otherwise treated as before the frequency of gene convertants was increased 8-fold, but induction of point mutants was negligible. This effect was the same for irradiated and unirradiated conidia. The environment created by the cellophane in contract with the medium appears to affect the action of each of the three compounds synergistically.

1984-08-01

374

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study  

British Library Electronic Table of Contents (United Kingdom)

Please cite this paper as: Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study. Experimental Dermatology 2008; 17: 203-207. Abstract: Pseudoxanthoma elasticum (PXE), a heritable multisystem disorder, is caused by mutations in the ABCC6 gene. We have developed a murine model for PXE by targeted inactivation of the corresponding mouse gene. A feature of this mouse model is ectopic mineralization of connective tissue capsule surrounding the bulb of vibrissae. This study was designed to investigate the effect of dietary sevelamer hydrochloride (Renagel), a phosphate binder, and specific mineral modifications on ectopic mineralization of connective tissue in Abcc6-/- mice. Three groups were fed a specific di...

2008-01-01

375

Cyclosporine metabolic side effects: association with the WNK4 system  

British Library Electronic Table of Contents (United Kingdom)

Abstract Background- Cyclosporine is used for treatment of transplanted patients and for immune-mediated diseases. Cyclosporine is known to cause a combination of metabolic side effects including hypertension, hyperkalemia, hypercalciuria and hypomagnesemia. These side effects except for hypomagnesemia are the cardinal features of familial hyperkalemia and hypertension (FHHt), also called pseudohypoaldosteronism type II (PHA II). FHHt is caused by mutations in the kinases WNK1 and WNK4 resulting in an increase in renal Na-Cl cotransporter (NCC) apical distribution and function. Therefore, we studied whether cyclosporine-s metabolic side effects are mediated by WNK4 and NCC. Design- Sprague-Dawley (SD) rats were treated by cyclosporine 25-mg-kg-1 subcutaneously for 14-days. Blood pressure, ...

2011-01-01

376

Characteristics of radiation-induced neoplastic transformation in vitro  

Energy Technology Data Exchange (ETDEWEB)

Data are presented to support the hypothesis that the initial step in the morphologic transformation of irradiated rodent (BALB/3T3) cells is a frequent cellular event involving a large fraction of the irradiated population. This process appears to involve DNA damage, but not to represent a targeted mutation in specific structural gene(s). Morphologic transformation and immortalization appear to be distinct steps in the overall process of transformation. In contradistinction to rodent cells, immortalization is a very rare event in human diploid cells which is induced at extremely low frequencies. The hypothesis is presented that immortality develops among clones of cells bearing stable chromosomal rearrangements which emerge during the proliferation of a population of radiation damaged cells.

1986-01-01

377

An erythrocyte-specific DNA-binding factor recognizes a regulatory sequence common to all chicken globin genes  

Energy Technology Data Exchange (ETDEWEB)

The authors have identified a protein present only in erythroid cells that binds to two adjacent sites within an enhancer region of the chicken {beta}-globin locus. Mutation of the sites, so that binding by the factor can no longer be detected in vitro, leads to a loss of enhancing ability, assayed by transient expression in primary erythrocytes. Binding sites for the erythroid-specific factor (Eryf1) are found within regulatory regions for all chicken globin genes. A strong Eryf1 binding site is also present within the enhancer of at least one human globin gene, and proteins from human erythroid cells (but not HeLa cells) bind to both the chicken and the human sites.

1988-08-01

378

Amphiphysin (Amph) maps to the proximal region of mouse chromosome 13  

Energy Technology Data Exchange (ETDEWEB)

Amphiphysin is a protein concentrated in neuronal synapses and peripherally associated with neurotransmitter vesicles. It is expressed in many neurons of the central and peripheral nervous systems, in the adrenal medulla, in the anterior and posterior pituitary, in cell lines of the endocrine pancreas, and in spermatocytes. Its subcellular localization and tissue distribution indicate a potential involvement in mechanisms of regulated exocytosis. A role in the dynamic organization of the membrane-associated cytoskeleton is suggested by structural homology to the products of two yeast genes, RVS161 and RVS167, whose mutation results in an abnormal actin distribution, disturbs budding morphology, and impairs cell entry into stationary phase. Limited stretches of sequence similarity, including an SH3 domain, are also shared with other actin-binding proteins. Amphiphysin is the dominant autoantigen in paraneoplastic Stiff-Man syndrome, a neurological autoimmune ...

1995-07-20

379

A systematic RNAi screen reveals involvement of endocytic pathway in neuronal dysfunction in a-synuclein transgenic C. elegans  

British Library Electronic Table of Contents (United Kingdom)

Mutations or multiplications in a-synuclein gene cause familial forms of Parkinson disease or dementia with Lewy bodies (LB), and the deposition of wild-type a-synuclein as LB occurs as a hallmark lesion of these disorders, collectively referred to as synucleinopathies, implicating a-synuclein in the pathogenesis of synucleinopathy. To identify modifier genes of a-synuclein-induced neurotoxicity, we conducted an RNAi screen in transgenic C. elegans (Tg worms) that overexpress human a-synuclein in a pan-neuronal manner. To enhance the RNAi effect in neurons, we crossed a-synuclein Tg worms with an RNAi-enhanced mutant eri-1 strain. We tested RNAi of 1673 genes related to nervous system or synaptic functions, and identified 10 genes that, upon knockdown, caused severe growth/motor abnormalit...

2008-01-01

380

A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25  

Energy Technology Data Exchange (ETDEWEB)

The human mitochondrial DNA (mtDNA) is a closed circular, 16,569-bp double-stranded DNA, encoding 13 genes whose protein products are subunits of the oxidative phosphorylation system required for synthesis of most of the ATP consumed by eukaryotic cells. Point mutations of the mtDNA that cause multi-tissue, loss-of-energy syndromes, called mitochondrial encephalomyopathies (e.g., MERRF and MELAS), have been identified. In addition, large-scale deletions of the human mtDNA have been identified and are the molecular bases for the neonatal and adolescent onset loss-of-energy syndromes Pearson and Kearns-Sayer, respectively. 5 refs., 1 fig.

1997-03-01

381

Insecticidal effects of essential oils extracted from aromatic plants on Ceratitis capitata (Wied.) in Lebanon  

International Nuclear Information System (INIS)

Full text: The excessive use of chemical pesticides to control agricultural pests is becoming alarming. The objective of this study is to search for biopesticides of plant origin that could be used to control one of the major pest of fruit production; the Mediterranean fruit fly (Ceratitis capitata Wied.). A colony of the Lebanese wild strain of this insect was reared under laboratory condition to provide biological material. The insecticidal activity of the essential oils extracted from aromatic plants in Lebanon was assessed. The tested plants are: Foeniculum vulgare, Thymbra spicata, Artemisia herba alba, Origanum syriacum, Ruta chalepensis, Lavandula stoechas, Salvia fruticosa, Mentha microphylla, Juniperus oxycedrus, Rosmarinus officinalis, Myrtus communis, Laurus nobilis and Ocimum gratissimum. Results show that essential oils isolated from F. vulgare, T. spicata, A. herba alba, O. syriacum and R. chalepensis have promising insecticidal ...

2005-05-09

382

Studies on the chemical composition and possible mechanisms underlying the antispasmodic and bronchodilatory activities of the essential oil of Artemisia maritima L.  

British Library Electronic Table of Contents (United Kingdom)

This study describes the chemical composition of the essential oil of Artemisia maritima (Am.Oil) and the pharmacological basis for its medicinal use in gut and airways disorders. Twenty five compounds, composing 93.7% of the oil, were identified; among these, chrysanthenyl propionate and elixene were identified for the first time from any Artemisia species. The Am.Oil (0.3?1.0 mg/mL) suppressed spontaneous and high K+ (80 mM)-induced contractions in isolated rabbit jejunum, suggestive of an antispasmodic effect mediated possibly through calcium channel blockade. The calcium channel blockade activity was confirmed when pre-treatment of the tissue with Am.Oil (0.01?0.03 mg/mL) shifted the Ca++ concentration-response curves to the right, similar to verapamil and papaverine. In isolated trach...

2011-01-01

383

Studies on gamma irradiated medicinal plants and spices (1): Myristica argentea, Myristica fragrans, Coriandrum sativum and Foeniculum vulgare  

Energy Technology Data Exchange (ETDEWEB)

Medicinal plants i.e. dried seeds of myristica argentea, myristica fragrans, coriandrum sativum and foeniculum vulgare were stored for 0 and 6 months, with and without gamma irradiation at 5 kGy. No detectable changes were seen in infrared and UV spectra, GLC chromatograms and refraction indices of steam distilled, essential oils from the irradiated medicinal plants. The same results were also obtained from irradiated samples stored for 6 months at ambient conditions. Storage for 6 months caused significant changes in the gas liquid chromatograms and UV spectra of all samples compared to non-stored samples. The moisture content of all samples packed in polyethylene bags seems to be constant after 6 months of storage. No measurable changes were found in the amount of essential oil content caused by irradiation.

1981-10-01

384

Peroxisomal hydroxypyruvate reductase is not essential for photorespiration in Arabidopsis but its absence causes an increase in the stoichiometry of photorespiratory CO2 release  

British Library Electronic Table of Contents (United Kingdom)

Recycling of carbon by the photorespiratory pathway involves enzymatic steps in the chloroplast, mitochondria, and peroxisomes. Most of these reactions are essential for plants growing under ambient CO2 concentrations. However, some disruptions of photorespiratory metabolism cause subtle phenotypes in plants grown in air. For example, Arabidopsis thaliana lacking both of the peroxisomal malate dehydrogenase genes (pmdh1pmdh2) or hydroxypyruvate reductase (hpr1) are viable in air and have rates of photosynthesis only slightly lower than wild-type plants. To investigate how disruption of the peroxisomal reduction of hydroxypyruvate to glycerate influences photorespiratory carbon metabolism we analyzed leaf gas exchange in A. thaliana plants lacking peroxisomal HPR1 expression. In addition, b...

2011-01-01

385

Nuclear techniques for measuring moisture content in soil profiles  

International Nuclear Information System (INIS)

The prevailing severe shortage of animal feed in most of the developing countries could, to a considerable extent, be overcome through improved range management, which includes introduction of high yielding drought-resistant forage crops, development of adequate water conservation measures, and as far as possible growing annual forage crops on part of the vast areas of arable land currently left fallow each year. Year round measurements are essential for a good understanding of soil water and nutrients dynamics, which allow for adequate evaluation of pasture management alternatives. The methods most commonly used for moisture measurements in soil profiles are discussed because such measurements are likely to form an essential part of any investigation aimed at increasing animal feed production through the development of adequate pasture management practices. (author).

386

Method of manufacture of blast furnace cokes containing substantial amounts of low grade coals  

Science.gov (United States)

Blast furnace coke containing low grade coal in a high blending ratio is manufactured by a method which comprises blending not less than 60% of a blended coal having an adjusted total moisture content of not more than 4% with not more than 40% of briquettes and carbonizing the resultant mixture. The blended coal consists essentially of not less than 80% of coking coal and not more than 20% of low grade coal. When coking coal of a kind which has its coking property segregated according to its grain size distribution is pulverized and classified by sifting and the portion of fine particles is used as mixed with the coking coal, the blending ratio of the low grade coal in the blended coal can be increased to up to 35%. The briquettes consist essentially of not less than 10% of coking coal and not more than 90% of low grade coal.

1982-03-09

387

Measurements to be taken after a nuclear accident in order to limit the uptake of radionuclides from the soil by nutrition crops  

International Nuclear Information System (INIS)

By the department Radio-ecology of the Laboratory for Radiation Research, in the period 1981 up to 1989 inclusive, the transfer has been studied, from soil to plant, of a number of important activation and fission products, originating in the nuclear-power production in nuclear power plants. The purpose of this study was twofold: on the one side the quantification of this transfer for various agrarian systems and on the other side to find out in how far, after an accidental contamination, certain agriculture activities can influence essentially the transfer and subsequently the radiation burden for the population. Emphasis lay, the last years, in particular upon this second aspect. The results of this study form essential basic data for diffusion models for radioactive materials which, in turn, are important in estimating the effects of measures. (author). 6 refs.; 4 figs.

388

Inspection procedure and essential parameters in NDT qualification; Tarkastusohje ja olennaiset muuttujat NDT-paetevoeinnissae  

Energy Technology Data Exchange (ETDEWEB)

The objective of the inspection qualification is to ensure that applied non-destructive methods (NDT) have the required performance. The approach of the qualification process is systematic and carefully documented and therefore some new requirements can be seen concerning the composition of the documentation. There are also new document types, that only application of the inspection qualification requires. The most important of these is the technical justification, that includes the documented evidences concerning the performance of the inspection system. This publication includes two reports: 'Compilation of the inspection procedure' and 'Essential/influential parameters in NDT qualification'. The former of these discusses the issues to be considered in an inspection procedure especially from the point of view of the mechanised ultrasonic testing. The later report explains the parameters formulated to analyse in the technical ...

2000-06-01

389

Estimation of essential and trace elements in some medicinal plants by PIXE and PIGE techniques  

Energy Technology Data Exchange (ETDEWEB)

Proton induced X-ray emission (PIXE) and proton induced {gamma}-ray emission (PIGE) techniques are employed for the determination of essential and trace elements in some commonly used medicinal plants of north east India. Light elements such as Na, Mg, Al and P are determined by PIGE while medium Z elements such as K, Ca, Mn, Fe, Cu, Zn, Rb and Sr are determined by PIXE. Analysis is performed on pellets (thick targets) prepared using powders of the specimens which, in turn, are obtained following a series of processing steps. Plant based biological certified reference materials (CRMs) served as standards for quantification. These elements are found to be present in varying concentrations in the studied plants, with the contents of Mn and Zn being notably large in certain specimens. Medicinal properties possessed by these plants have been correlated with their elemental distribution.

2008-04-15

390

Critical Educational Program Components for Students with Emotional and Behavioral Disorders: Science, Policy, and Practice  

Science.gov (United States)

In spite of recent education reform and reorganization efforts requiring the use of research-based methods, the fundamental elements of an effective program for children and youth with emotional and behavioral disorders (EBD) have not been succinctly identified. This article presents the essential features of programs for students with EBD. Program elements include (a) qualified and committed professionals, (b) utilitarian environmental supports, (c) effective behavior management plans, (d) valid social skill and social interpretation training and social interaction programs, (e) proven academic support systems, (f) strong parent- and family-involvement programs, (g) coordinated community support mechanisms, and (h) ongoing evaluation of essential program components and student outcomes and progress. A justification for the program and a comparison of the proposed program with existing models is included in the discussion. (Contains 1 figure.)

2010-12-01

391

Compare analysis of efficiency of using of digital and analog regimes of registration of radiation in radiometric systems of radiation thickness measuring  

International Nuclear Information System (INIS)

A consideration is given to the problem of selecting optimized methods of radionuclide radiation registration during the control of the objects with essential changes in thickness. Adequate model of information signal formation is developed and analyzed for the case of the existence of an inertial link of the system with the dead time of a noncontinued type. The boundary values of radiation thickness and radiation flux intensity that divide the priority of using either digital or analog registration modes are revealed. The method is found for the full correction of a systematic error of flux intensity measurement because of the dead time of the apparatus. To control the objects with essential variation of thickness the method of selective measurement of radiation intensity is proposed

392

A new formulation of asset trading games in continuous time with essential forcing of variation exponent  

CERN Document Server

We introduce a new formulation of asset trading games in continuous time in the framework of the game-theoretic probability established by Shafer and Vovk (2001). In our formulation, the market moves continuously but an investor trades in discrete times, which can depend on the past path of the market. We prove that an investor can essentially force that the asset price path behaves with the variation exponent exactly equal to two. Our proof is based on embedding high-frequency discrete time games into the continuous time game and the use of the Bayesian strategy of Kumon, Takemura and Takeuchi (2007b) for discrete time coin-tossing games. We also clarify that the main growth part of the investor's capital processes is lucidly described by the information quantities, which are derived from the Kullback-Leibler information with respect to the empirical fluctuation of the asset price.

2007-01-01

393

Radiation effects on shoot tip culture of chrysanthemum, 2  

International Nuclear Information System (INIS)

(1) Young chrysanthemums were planted after being irradiated at the time of shoot tip culture and the influence of irradiation was evaluated from the point of view of establishment of mutants. (2) Two cultivars, Kin-tenryu and Tenryu-no-asa were used in this experiment. The percentage of cultivars healthy enough to transplant on June 10, 1972 showed a decrease in proportion to the increase of dosage. Some plants of cultivar Kin-tenryu died after being transplanted. (3) Few plants of either cultivar could overwinter, and in particular no plant irradiated by gamma-rays of 20 kR. (4) Plant height showed a tendency of inhibition in both cultivars. (5) Three chlorophyll mutants showing chimera appeared. One of them was in the cultivar Tenryu-no-asa irradiated by 10 kR at 3 days after planting; two of them were in the cultivar Tenryu-no-asa irradiated by 10 kR at 5 days after planting. One mutant exhibiting malformation of entire leaves appeared in the cultivar Kin-tenryu irradiated by 20 kR ...

394

One-step RNA pathogen detection with reverse transcriptase activity of a mutated thermostable Thermus aquaticus DNA polymerase.  

Science.gov (United States)

We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60 degrees C). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at high temperatures is desired to weaken or melt secondary structure motifs. To demonstrate the ability of Taq M1 for RNA detection of pathogens, we performed TaqMan probe-based ...

2010-02-01

395

Novel method for differentiation between Trastuzumab and host adaptive response.  

Science.gov (United States)

Humoral immune response to human epidermal growth factor receptor 2 (HER-2/neu or ErbB-2) has been detected in sera of breast cancer patients and shown to be an appropriate prognostic marker (Taylor et al., 2007). However, since Trastuzumab (Herceptin) is a widely used monoclonal antibody as cancer therapy agent for tumors over-expressing HER-2, there is a need for an efficient way to detect host-generated antibodies against HER-2 without the confounding effect of Herceptin. Here we describe a screening method developed to decipher between host antibodies against HER-2 and that of Herceptin. By producing a series of truncation mutants within the epitope of Herceptin, we were able to inhibit this binding. We demonstrated also that by a three amino acid substitution (PPF?SSS) we were able to abrogate Herceptin binding while generating a highly conserved HER-2 extracellular domain (ECD). By producing a stable cell line that expresses this mutated form of the human ...

2011-06-08

396

Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone  

Energy Technology Data Exchange (ETDEWEB)

Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Forty-three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) and multiple Heschl`s ...

1995-06-19

397

Association of attention-deficit disorder and the dopamine transporter gene  

Energy Technology Data Exchange (ETDEWEB)

Attention-deficit hyperactivity disorder (ADHD) has been shown to be familial and heritable, in previous studies. As with most psychiatric disorders, examination of pedigrees has not revealed a consistent Mendelian mode of transmission. The response of ADHD patients to medications that inhibit the dopamine transporter, including methylphenidate, amphetamine, pemoline, and bupropion, led us to consider the dopamine transporter as a primary candidate gene for ADHD. To avoid effects of population stratification and to avoid the problem of classification of relatives with other psychiatric disorders as affected or unaffected, we used the haplotype-based haplotype relative risk (HHRR) method to test for association between a VNTR polymorphism at the dopamine transporter locus (DAT1) and DSM-III-R-diagnosed ADHD (N = 49) and undifferentiated attention-deficit disorder (UADD) (N = 8) in trios composed of father, mother, and affected offspring. HHRR analysis revealed significant association ...

1995-04-01

398

ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome  

Energy Technology Data Exchange (ETDEWEB)

ATR-X (alpha-thalassemia/mental retardation, X-linked) syndrome is a human congenital disorder that causes severe intellectual disabilities. Mutations in the ATRX gene, which encodes an ATP-dependent chromatin-remodeler, are responsible for the syndrome. Approximately 50% of the missense mutations in affected persons are clustered in a cysteine-rich domain termed ADD (ATRX-DNMT3-DNMT3L, ADD{sub ATRX}), whose function has remained elusive. Here we identify ADD{sub ATRX} as a previously unknown histone H3-binding module, whose binding is promoted by lysine 9 trimethylation (H3K9me3) but inhibited by lysine 4 trimethylation (H3K4me3). The cocrystal structure of ADD{sub ATRX} bound to H3{sub 1-15}K9me3 peptide reveals an atypical composite H3K9me3-binding pocket, which is distinct from the conventional trimethyllysine-binding aromatic cage. Notably, H3K9me3-pocket mutants and ATR-X syndrome mutants are defective in both H3K9me3 binding and ...

2011-07-19

399

A single amino acid substitution modulates low-pH-triggered membrane fusion of GP64 protein in Autographa californica and Bombyx mori nucleopolyhedroviruses  

International Nuclear Information System (INIS)

We have previously shown that budded viruses of Bombyx mori nucleopolyhedrovirus (BmNPV) enter the cell cytoplasm but do not migrate into the nuclei of non-permissive Sf9 cells that support a high titer of Autographa californica multicapsid nucleopolyhedrovirus (AcMNPV) multiplication. Here we show, using the syncytium formation assay, that low-pH-triggered membrane fusion of BmNPV GP64 protein (Bm-GP64) is significantly lower than that of AcMNPV GP64 protein (Ac-GP64). Mutational analyses of GP64 proteins revealed that a single amino acid substitution between Ac-GP64 H155 and Bm-GP64 Y153 can have significant positive or negative effects on membrane fusion activity. Studies using bacmid-based GP64 recombinant AcMNPV harboring point-mutated ac-gp64 and bm-gp64 genes showed that Ac-GP64 H155Y and Bm-GP64 Y153H substitutions decreased and increased, respectively, the multiplication and cell-to-cell spread of progeny viruses. These results ...

2010-09-01

400

A single amino acid substitution (R441A) in the receptor-binding domain of SARS coronavirus spike protein disrupts the antigenic structure and binding activity  

International Nuclear Information System (INIS)

The spike (S) protein of severe acute respiratory syndrome coronavirus (SARS-CoV) has two major functions: interacting with the receptor to mediate virus entry and inducing protective immunity. Coincidently, the receptor-binding domain (RBD, residues 318-510) of SAR-CoV S protein is a major antigenic site to induce neutralizing antibodies. Here, we used RBD-Fc, a fusion protein containing the RBD and human IgG1 Fc, as a model in the studies and found that a single amino acid substitution in the RBD (R441A) could abolish the immunogenicity of RBD to induce neutralizing antibodies in immunized mice and rabbits. With a panel of anti-RBD mAbs as probes, we observed that R441A substitution was able to disrupt the majority of neutralizing epitopes in the RBD, suggesting that this residue is critical for the antigenic structure responsible for inducing protective immune responses. We also demonstrated that the RBD-Fc bearing R441A mutation could not bind to soluble and ...

2006-05-26

401

What's the rest of the world doing with its spent nuclear fuel?  

International Nuclear Information System (INIS)

This paper discusses the storage of spent nuclear fuel by countries around the world. At the present time, all countries are storing it. A small number of countries are reprocessing it for recycling. Essentially all countries are preparing for eventual disposal of end waste form. There is much uncertainty and controversy over what should and will happen.

2008-06-01

402

Well preflush fluid  

Energy Technology Data Exchange (ETDEWEB)

This patent describes a preflush fluid for preventing lost circulation during the cementing of a well, the fluid consisting essentially of: (a) water; (b) about 10 to about 30 percent by weight of water (% BWOW) cement; (c) about 5 to about 30% BWOW calcium sulfate selected from the group consisting of calcium sulfate hemihydrate, calcium sulfate dihydrate, and mixtures thereof; and (d) an alkali metal-containing quick-hardening accelerator.

1992-01-21

403

The origin and physical mechanism of the ensemble Baldwin effect  

CERN Document Server

We have conducted a systematic investigation of the origin and underlying physics of the line--line and line--continuum correlations of AGNs, particularly the Baldwin effect. Based on the homogeneous sample of Seyfert 1s and QSOs in the SDSS DR4, we find the origin of all the emission-line regularities is Eddington ratio (L/Ledd). The essential physics is that L/Ledd regulates the distributions of the properties (particularly column density) of the clouds bound in the line-emitting region.

2009-01-01

404

The Acidic Domain of Hepatitis C Virus NS4A Contributes to RNA Replication and Virus Particle Assembly?  

UK PubMed Central (United Kingdom)

Hepatitis C virus NS3-4A is a membrane-bound enzyme complex that exhibits serine protease, RNA helicase, and RNA-stimulated ATPase activities. This enzyme complex is essential for viral genome replication...Full Text Available

2011-02-01

405

Tachyons and the search for a preferred frame  

International Nuclear Information System (INIS)

The essential properties of tachyons are described briefly and the 'reinterpretation principle' for tachyons is discussed. The possibility of conducting an experiment analogous to the Michelson-Morley experiment in which a preferred frame may be detected is considered. The existance of a tachyon prefered frame is consistent with the principles of relativity and, if suitable experiments were devised, could provide important evidence for the existence of tachyons. (W.D.L.).

406

Structural features of twins in transition class alloy Ti-Al-Mo-V-Cr  

International Nuclear Information System (INIS)

The alloy of Ti-Al-Mo-V-Cr system is studied for its structure in a strained state and specific features of #beta#-#alpha# transformation in a #beta#-matrix and deformation twins on ageing. It is determined that preliminary deformation initiates the decomposition of solid solution on aging. In a metastable #beta#-titanium alloy the substructure of deformation twins is shown to vary essentially with aluminium and chromium partial substitution for molybdenum and vanadium

1999-11-01

407

Spin resonance strength calculations  

Energy Technology Data Exchange (ETDEWEB)

In calculating the strengths of depolarizing resonances it may be convenient to reformulate the equations of spin motion in a coordinate system based on the actual trajectory of the particle, as introduced by Kondratenko, rather than the conventional one based on a reference orbit. It is shown that resonance strengths calculated by the conventional and the revised formalisms are identical. Resonances induced by radiofrequency dipoles or solenoids are also treated; with rf dipoles it is essential to consider not only the direct effect of the dipole but also the contribution from oscillations induced by it.

2008-10-06

408

Silicon effect on corrosion resistance of austenite stainless steels in strongly oxidizing media containing fluoride and phosphate admixtures  

International Nuclear Information System (INIS)

Paper estimates the corrosion resistance and studies the character of dissolving of silicon-bearing austenite stainless steels in strongly oxidizing media containing phosphate and fluoride admixtures. Corrosion behaviour of the studied steels is determined to depend essentially on the content of admixture or alloying silicon, as well as, on their phase composition in many respects determined by the thermal treatment condition. Refs. 22, figs. 1, tabs. 2.

409

Scintigraphic imaging of dementia: Technical acquisition  

International Nuclear Information System (INIS)

Scintigraphic imaging of dementia relies today essentially on the study of brain Single Photo Emission Computed Tomography (SPECT) perfusion, after intravenous injection of 99mTc radio-pharmaceutic. This paper is based on the guidelines published in October 2001 by the European Association of Nuclear Medicine (http://eanm.org/). (author)

2007-06-01

410

SAS1 and SAS2, GTP-binding protein genes in Dictyostelium discoideum with sequence similarities to essential genes in Saccharomyces cerevisiae.  

UK PubMed Central (United Kingdom)

We have identified two novel, very closely related genes, SAS1 and SAS2, from Dictyostelium discoideum. These encode small, approximately 20-kilodaton proteins with amino acid sequences thought to be...Full Text Available

1990-05-01

411

Right-sided invasive metastatic thymoma of the heart  

British Library Electronic Table of Contents (United Kingdom)

Cardiac tumours may display diverse symptoms through potential involvement of any structure of the heart. We describe a case of a highly malignant thymoma with involvement of different cardiac structures with important haemodynamic compromise. With the high sensitivity of transthoracic echocardiography for detection of intracardiac masses, computed tomography and magnetic resonance add essential structural preoperative information on the tumour and surrounding tissue as vessels, pleura, lung and mediastinum.

2011-01-01

412

Review of Outcome Information in 46,XX Patients with Congenital Adrenal Hyperplasia Assigned/Reared Male: What Does It Say about Gender Assignment?  

UK PubMed Central (United Kingdom)

There is ample historical verification of 46,XX congenital adrenal hyperplasia (CAH) patients being born with essentially male genitaliawhile outcome information is scant. Prior to glucocorticoid...Full Text Available

2010-01-01

413

Quark-Hadron Duality: Resonances and the Onset of Scaling  

Energy Technology Data Exchange (ETDEWEB)

We discuss the origin of Bloom-Gilman duality and the relationship between resonances and scaling in deep-inelastic scattering. We present a simple quantum mechanical model which reproduces the essential features of Bloom-Gilman duality at low Q{sup 2}, and describe applications of local duality relating structure functions at x{approximately}1 and elastic electromagnetic form factors.

2001-03-01

414

Precise calculation of transition frequencies of hydrogen and deuterium based on a least-squares analysis  

CERN Document Server

We combine a limited number of accurately measured transition frequencies in hydrogen and deuterium, recent quantum electrodynamics (QED) calculations, and, as an essential additional ingredient, a generalized least-squares analysis, to obtain precise and optimal predictions for hydrogen and deuterium transition frequencies. Some of the predicted transition frequencies have relative uncertainties more than an order of magnitude smaller than that of the g-factor of the electron, which was previously the most accurate prediction of QED.

2005-01-01

415

Practical design methods for barrier pillars. Information circular/1995  

Energy Technology Data Exchange (ETDEWEB)

Effective barrier pillar design is essential for safe and productive underground coal mining. This U.S. Bureau of Mines report presents an overview of available barrier pillar design methodologies that incorporate sound engineering principles while remaining practical for everyday usage. Nomographs and examples are presented to assist in the determination of proper barrier pillar sizing. Additionally, performance evaluation techniques and criteria are included to assist in determining the effectiveness of selected barrier pillar configurations.

1995-11-01

416

Power and ecological aspects of hydrogen and hydrogenous gas usage  

International Nuclear Information System (INIS)

General trends of developing hydrogen power engineering and technology in Ukraine are considered. Based on a general level of power consumption and real opportunities for hydrogen production, a conclusion is derived that there are possibilities in the near future to partially replace conventional hydrocarbon fuels by hydrogen. Besides, developed technologies for burning hydrogenous gases and hydrogen-fuel systems when applied to transport installations allow one to improve essentially their power and ecological characteristics. 5 refs.

417

On the triaxial deformation in transitional odd-A nuclei  

International Nuclear Information System (INIS)

The essential difference as well as the apparent identity between the triaxial-rotor model and the gamma-vibrational model have been discussed. From the gamma decay mode, the [19/2"-]_1 states of the j = 11/2"- family in "1"8"7Ir and "1"8"9Ir have been identified as the K = j + 4 states, the presence of which contradicts the particle plus triaxial-rotor model. (author).

418

Multiway real-time PCR gene expression profiling in yeast Saccharomyces cerevisiae reveals altered transcriptional response of ADH-genes to glucose stimuli  

UK PubMed Central (United Kingdom)

BackgroundThe large sensitivity, high reproducibility and essentially unlimited dynamic range of real-time PCR to measure gene expression in complex samples provides the opportunity...Full Text Available

419

Methodologies for estimating shipping emissions in the Netherlands. A documentation of currently used emission factors and related activity data  

Energy Technology Data Exchange (ETDEWEB)

Proper estimation of shipping emissions is essential for an impact assessment of shipping on air quality and health in port cities and coastal regions. In the Netherlands shipping is an important source of particulate matter. This report provides an internationally accessible and transparent summary and description of the methodologies used in the Netherlands Pollutant Release and Transfer Register (PRTR) to estimate PM emissions from shipping, including recently implemented updates.

2010-04-15

420

Lattice parameters and thermal expansion of solid ortho-deuterium  

Energy Technology Data Exchange (ETDEWEB)

X-ray results on the lattice parameters, molar volume and thermal expansion coefficients of solid ortho-deuterium for the region from 2 K to the melting point are reported. It is found that the thermal expansion of ortho-deuterium crystals, similarly to parahydrogen is essentially anisotropic near the melting temperature. The vacancy density at the triple point is estimated. Some thermodynamic characteristics of ortho-deuterium are calculated and temperature dependences of heat capacity at constant volume, isothermal compressibility and Gruneisen constant are analyzed.

1984-01-01

421

Large-Scale Computations Leading to a First-Principles Approach to Nuclear Structure  

Energy Technology Data Exchange (ETDEWEB)

We report on large-scale applications of the ab initio, no-core shell model with the primary goal of achieving an accurate description of nuclear structure from the fundamental inter-nucleon interactions. In particular, we show that realistic two-nucleon interactions are inadequate to describe the low-lying structure of {sup 10}B, and that realistic three-nucleon interactions are essential.

2003-08-18

422

Kes1p shares homology with human oxysterol binding protein and participates in a novel regulatory pathway for yeast Golgi-derived transport vesicle biogenesis.  

UK PubMed Central (United Kingdom)

The yeast phosphatidylinositol transfer protein (Sec14p) is required for biogenesis of Golgi-derived transport vesicles and cell viability, and this essential Sec14p requirement is abrogated by inactivation...Full Text Available

1996-12-02

423

Interaction of Extracellular Domain 2 of the Human Retina-specific ATP-binding Cassette Transporter (ABCA4) with All-trans-retinal*  

UK PubMed Central (United Kingdom)

The retina-specific ATP-binding cassette (ABC) transporter, ABCA4, is essential for transport of all-trans-retinal from the rod outer segment discs in the retina and is associated with...Full Text Available

2010-06-18

424

ITER council proceedings: 1995  

International Nuclear Information System (INIS)

Records of the 8. ITER Council Meeting (IC-8), held on 26-27 July 1995, in San Diego, USA, and the 9. ITER Council Meeting (IC-9) held on 12-13 December 1995, in Garching, Germany, are presented, giving essential information on the evolution of the ITER Engineering Design Activities (EDA) and the ITER Interim Design Report Package and Relevant Documents. Figs, tabs.

2008-11-01

425

Heavy and light quarks in the instanton vacuum  

CERN Document Server

Assuming the gluon field is well approximated by instanton configurations we derive a light quarks determinant and calculate its contribution to the specific heavy quarks correlators -- namely, the heavy quark propagator and heavy quark-aniquark correlator, receiving the instanton generated light-heavy quarks interaction terms contributions. With these knowledge we calculate the light quark contribution to the interaction between heavy quarks, which might be essential for the properties of a few heavy quarks systems.

2011-01-01

426

Functional and Topological Analysis of Yeast Acyl-CoA:Diacylglycerol Acyltransferase 2, an Endoplasmic Reticulum Enzyme Essential for Triacylglycerol Biosynthesis*  

UK PubMed Central (United Kingdom)

Acyl-CoA:diacylglycerol acyltransferase (EC 2.3.1.20) is a membrane protein present mainly in the endoplasmic reticulum. It catalyzes the final and committed step in the biosynthesis of triacylglycerol,...Full Text Available

2011-04-15

427

Folate fortification of rice by metabolic engineering  

British Library Electronic Table of Contents (United Kingdom)

Rice, the world's major staple crop, is a poor source of essential micronutrients, including folates (vitamin B9). We report folate biofortification of rice seeds achieved by overexpressing two Arabidopsis thaliana genes of the pterin and para-aminobenzoate branches of the folate biosynthetic pathway from a single locus. We obtained a maximal enhancement as high as 100 times above wild type, with 100 g of polished raw grains containing up to four times the adult daily folate requirement.

2007-01-01

428

Essential Role for Cellular Phosphoglucomutase in Virulence of Type 3 Streptococcus pneumoniae  

UK PubMed Central (United Kingdom)

Synthesis of the Streptococcus pneumoniae type 3 capsule requires the pathway glucose-6-phosphate (Glc-6-P) → Glc-1-P → UDP-Glc → UDP-glucuronic acid (UDP-GlcUA)...Full Text Available

2001-04-01

429

Enabling Technologies for Petascale Electromagnetic Accelerator Simulation  

Energy Technology Data Exchange (ETDEWEB)

The SciDAC2 accelerator project at SLAC aims to simulate an entire three-cryomodule radio frequency (RF) unit of the International Linear Collider (ILC) main Linac. Petascale computing resources supported by advances in Applied Mathematics (AM) and Computer Science (CS) and INCITE Program are essential to enable such very large-scale electromagnetic accelerator simulations required by the ILC Global Design Effort. This poster presents the recent advances and achievements in the areas of CS/AM through collaborations.

2007-11-09

430

Duct and cladding alloy  

Energy Technology Data Exchange (ETDEWEB)

An austenitic alloy having good thermal stability and resistance to sodium corrosion at 700.degree. C. consists essentially of 35-45% nickel 7.5-14% chromium 0.8-3.2% molybdenum 0.3-1.0% silicon 0.2-1.0% manganese 0-0.1% zirconium 2.0-3.5% titanium 1.0-2.0% aluminum 0.02-0.1% carbon 0-0.01% boron and the balance iron.

1983-01-01

431

Direct production of niobium titanium alloy during niobium reduction  

International Nuclear Information System (INIS)

This paper describes a process for the direct production of a superconductive niobium-titanium alloy during reduction of niobium pentoxide. It comprises: mixing at least one of titanium metal powder and titanium dioxide powder with niobium pentoxide powder and aluminum powder; heating the resulting mixture to form a niobium-titanium alloy and a slag consisting essentially of aluminum oxide; and separating the alloy and the slag.

1989-10-26

432

Design basis for protection of light water nuclear power plants against effects of postulated pipe rupture  

Energy Technology Data Exchange (ETDEWEB)

This standard addresses the design bases for light water reactor, nuclear power plant structures and components essential for the protection of public health and safety from the potential adverse effects of pipe whip, jet impingement, pressurization of compartments outside containment, environmental conditions and flooding associated with a postulated pipe rupture. The design bases for missile protection and the design bases for containment pressurization are not within this standard.

1981-01-01

433

D-Glyceraldehyde-3-Phosphate Dehydrogenase: Three-Dimensional Structure and Evolutionary Significance  

UK PubMed Central (United Kingdom)

A 3.0-Å resolution electron density map of lobster glyceraldehyde-3-phosphate dehydrogenase (EC 1.2.1.12) was computed. The essentially single isomorphous replacement map was very substantially...Full Text Available

1973-11-01

434

Characterization of wood polymer composites (WPC) as an engineering material  

International Nuclear Information System (INIS)

Radiation processed wood-polymer composites (WPC) can replace conventional wood in many industrial applications. However, for proper utilization of the composites, adequate testing and evaluation programmes are essential. The paper briefly describes the development of WPC at the Bhabha Atomic Research Centre, Bombay, and the evaluation of WPC for various applications in greater details. The various mechanical properties and their significance in overall performance of WPC are also discussed. (author).

1980-08-01

435

Calculation of cosmic ray antiproton-proton ratio  

Energy Technology Data Exchange (ETDEWEB)

Independent calculations of the antiproton-to-proton ratio by Gaisser and Maurer and by Badhwar et al. have produced conflicting results which obscure the interpretation of recent measurements of cosmic ray antiprotons. A detailed reexamination of these calculations has been performed and these differences have been resolved. We find that the first calculation was essentially correct and the reported fluxes of antiprotons are significantly higher than expected for secondary antiprotons in conventional models of cosmic ray propagation, as indicated by other recent calculations.

1982-01-15

436

Building a sustainable energy system  

Energy Technology Data Exchange (ETDEWEB)

The inevitability of sustainable economic development and its linkage to a gradual shift to renewable energy sources, especially solar energy, was discussed. Means to measure sustainability of technology were described, and policy instruments (essentially research, development and demonstration, and punitive taxes on conventional energy carriers) to accelerate the shift to renewable energy sources were outlined.

1995-12-31

437

Assessment of internal contamination due to gamma emitters at nuclear power stations of Tarapur  

International Nuclear Information System (INIS)

Personal monitoring and dose assessment of all radiation workers is an essential regulatory requirement as per radiation safety procedures of AERB and operating stations. The occupational workers of TAPS 1 and 2 and TAPS 3 and 4 are monitored for internal contamination due to high energy gamma emitters by whole body counting

2010-02-03

438

Application of Pd silicide in the process of silicon detectors  

Energy Technology Data Exchange (ETDEWEB)

A new technology called a self-aligned metal-silicide process is described in the fabrication of silicon detectors. It has been found that this technology improves both detector yield and leakage current. The use of a metal silicide also gives a lower contact resistance and, depending on the thermal process, a controllable junction depth, which may be essential in the integration of detectors and their electronics.

1990-04-01

439

American National Standard: design basis for protection of light water nuclear power plants against effects of postulated pipe rupture  

Energy Technology Data Exchange (ETDEWEB)

This standard addresses the design bases for light water reactor, nuclear power plant structures and components essential for the protection of public health and safety from the potential adverse effects of pipe whip, jet impingement, pressurization of compartments outside containment, environmental conditions and flooding associated with a postulated pipe rupture. The design bases for missile protection and the design bases for containment pressurization are not within this standard.

1980-12-31

440

Air-conditioning for a healthy and productive indoor environment: New and future trends  

Energy Technology Data Exchange (ETDEWEB)

New studies document a positive impact of IAQ on human productivity and health. A paradigm shift is foreseen with much greater emphasis on excellent indoor environments. The air should be perceived as fresh, pleasant and stimulating. Essential elements in the predicted paradigm shift are suggested and discussed. (orig.)

2002-07-01

441

Acceptance test guideline for steam turbine control systems. Anahmerichtlinie fuer Regel- und Steuereinrichtungen von Dampfturbinen  

Energy Technology Data Exchange (ETDEWEB)

The acceptances to be obtained during the first operational run, refer to measures proving the functional integrity of the turbine control system and assuring the compliance with the maximum allowable overspeed in case of lead changes or perturbations. The Guideline concerns essentially speed, power, and pressure controllers coupled to generators. It may be appropriately extended to steam turbines serving other purposes.

1983-01-01

442

A new unified approach to bradyons and tachyons by conformal transformations  

International Nuclear Information System (INIS)

By using linearized conformal transformations in six dimensions, a new unified approach to bradyons (v"2< c"2) and tachyons (v"2>c"2) is suggested, the essential tool being (real and imaginary) dilatations. The usual ''Generalized Lorentz transformations'' are got, In six dimensions the quadrate form is always positive, both for bradyons and for tachyons.

443

?1-Fetoprotein Transcription Factor (FTF)/Liver Receptor Homolog-1 (LRH-1) Is an Essential Lipogenic Regulator  

UK PubMed Central (United Kingdom)

α1-Fetoprotein transcription factor (FTF), also known as liver receptor homolog 1 (LRH-1) is highly expressed in liver and intestine, where it is implicated in the regulation...Full Text Available

2010-04-01

444

p53 protein in aggressive and non-aggressive basal cell carcinoma.  

Science.gov (United States)

Basal cell carcinoma (BCC) is the most frequent cutaneous neoplasm, with a generally favorable clinical behavior. Sometimes, indeed, it recurs after therapy and/or metastasizes. As point mutations in the coding sequence of the p53 tumor suppressor gene have been implicated in the progression of many human tumors, we studied the expression of p53 protein on this neoplasia. We tested immunohistochemically the positivity for p53 protein (NCL-p53-CM1, YLEM) on 19 cases of morphologically "non aggressive" BCC (BCC1) and on 19 "aggressive" BCC (BCC2), all with one or more relapses and 3 with distant metastases also. Results were related to clinico-pathological and follow-up data. All but one BCC2 were found positive for p53 protein. Conversely, only 2 cases of BCC1 exhibited low immunoreactivity for p53 protein, with high statistical differences between the two groups. No correlation was found between the immunoreactivity, age of patients, and site of the lesions. The ...

1993-10-01

445

Vibrational spectroscopy of bacteriorhodopsin mutants: light-driven proton transport involves protonation changes of aspartic acid residues 85, 96, and 212  

Energy Technology Data Exchange (ETDEWEB)

Fourier transform infrared (FTIR) difference spectra have been obtained for the bR----K, bR----L, and bR----M photoreactions in bacteriorhodopsin mutants in which Asp residues 85, 96, 115, and 212 have been replaced by Asn and by Glu. Difference peaks that had previously been attributed to Asp COOH groups on the basis of isotopic labeling were absent or shifted in these mutants. In general, each COOH peak was affected strongly by mutation at only one of the four residues. Thus, it was possible to assign each peak tentatively to a particular Asp. From these assignments, a model for the proton-pumping mechanism of bR is derived, which features proton transfers among Asp-85, -96, and -212, the chromophore Schiff base, and other ionizable groups within the protein. The model can explain the observed COOH peaks in the FTIR difference spectra of bR photointermediates and could also account for other recent results on site-directed mutants of bR.

1988-11-15

446

Title of paper: the induction of P-53 independent programmed cell death (apoptosis) with ionizing radiation and 5-fluorouracil (5-FU) in the HT-29 human colon carcinoma cell line  

International Nuclear Information System (INIS)

Purpose/Objective: The role of programmed cell death (apoptosis) as a cellular response to cancer therapy such as radiation or chemotherapy is the subject of much study, and manipulation of the apoptotic response in tumor cells may be valuable in the treatment of a variety of cancers. Both p53 dependent and independent apoptotic pathways have been identified; p53 is mutated in at least 50 % of human cancers and a majority of radiation resistant tumors contain p53 mutations. This study is designed to examine the induction of programmed cell death in a human colon carcinoma cell line that possesses two mutated p53 alleles. Ionizing radiation alone, or in combination with the chemotherapeutic drug 5-fluorouracil (5-FU), were used to elicit the apoptotic response. This study will focus on whether these treatments can induce a significant apoptotic response in cells that have mutated p53 alleles. Materials ...

1996-09-01

447

The mouse formin (Fmn) gene: Genomic structure, novel exons, and genetic mapping  

Energy Technology Data Exchange (ETDEWEB)

Mutations in the mouse formin (Fmn) gene, formerly known as the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. The Fmn gene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of the Fmn locus, we have used Fmn probes to isolate and characterize genomic clones spanning 500 kb. Our analysis of these clones shows that the Fmn gene is composed of at least 24 exons and spans 400 kb. We have identified two novel exons that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney. We have also used a microsatellite polymorphism from within the Fmn gene to map it genetically to a 2.2-cM interval between D2Mit58 and D2Mit103. 36 refs., 6 figs., 1 tab.

1997-02-01

448

The Origin of Life from Primordial Planets  

CERN Document Server

The origin of life and the origin of the universe represent two of the most important problems of science. Both are resolved by hydro-gravitational dynamics (HGD) cosmology (Gibson 1996, Schild 1996, Gibson 2009ab), which predicts frozen primordial hydrogen-helium gas planets in clumps as the dark matter of galaxies. Merging Earth-mass planets formed stars, moons and comets to incubate and cosmically seed the first life. Cometary panspermia (Hoyle and Wickramasinghe 1981, 1982; Wickramasinghe et al. 2009) occurs naturally by HGD mechanisms. Comets and moons are fragments from mergers of stardust covered frozen gas planets in their step-wise growth to star mass. Supernovae from stellar over-accretion of planets produce stardust (C, N, O, P etc.) chemical fertilizer. Planets collect this infected radioactive dust gravitationally, to provide liquid water domains in contact with life nutrients seeded with life prototypes. The first mutating, evolving, life from HGD ...

2010-01-01

449

The 2001 Superoutburst of WZ Sagittae  

CERN Document Server

We report the results of a worldwide campaign to observe WZ Sagittae during its 2001 superoutburst. After a 23-year slumber at V=15.5, the star rose within 2 days to a peak brightness of 8.2, and showed a main eruption lasting 25 days. The return to quiescence was punctuated by 12 small eruptions, of ~1 mag amplitude and 2 day recurrence time; these "echo outbursts" are of uncertain origin, but somewhat resemble the normal outbursts of dwarf novae. After 52 days, the star began a slow decline to quiescence. Periodic waves in the light curve closely followed the pattern seen in the 1978 superoutburst: a strong orbital signal dominated the first 12 days, followed by a powerful /common superhump/ at 0.05721(5) d, 0.92(8)% longer than P_orb. The latter endured for at least 90 days, although probably mutating into a "late" superhump with a slightly longer mean period [0.05736(5) d]. The superhump appeared to follow familiar rules for such phenomena in dwarf novae, with ...

2002-01-01

450

S1 nuclease analysis of #alpha#-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells  

International Nuclear Information System (INIS)

The loss of #alpha#-globin gene transcriptional activity rarely occurs as an acquired abnormality during the evolution of myeloproliferative disease or preleukemia. To test whether the mutation responsible for the loss of #alpha#-globin gene expression (hemoglobin H disease) in these patients is linked with the #alpha#-globin genes on chromosome 16, the authors transferred chromosome 16 from preleukemic patients with acquired hemoglobin H disease to mouse erythroleukemia cells and measured the transcriptional activity of the human #alpha#-globin genes. After transfer to mouse erythroleukemia cells, the expression of human #alpha#-globin genes from the peripheral blood or marrow cells of preleukemic patients with acquired hemoglobin H disease was similar to that of human #alpha#-globin genes transferred to mouse erythroleukemia cells from normal donors. These data showed that factor(s) in the mouse erythroleukemia cell can genetically complement the #alpha#-globin ...

451

Role of accelerator mass spectrometry in biological dosimetry  

International Nuclear Information System (INIS)

Understanding risks from exposures to carcinogens and other chemicals depends upon measurement of their dose to target tissues and their reactivity with critical macromolecules. The authors have used AMS detection of radio-isotopes to assess doses and reactivities at low, environmentally relevant doses. Several biomedical investigations show the effectiveness of quantification of biologically important events at extremely high sensitivity with AMS. Specifically, they have measured the addition of environmental carcinogens such as 2-amino-3,8-dimethylimidazo[4,5-f]-quinoaxaline (MelQx), a chemical found in cooked food, to DNA at concentrations relevant to human exposure. Other low level detection problems in biology, such as immunoassay assessment of small environmental chemicals, is being developed with attomole sensitivity. AMS also aids the assessment of genotoxic risks from chemicals by quantifying the binding of labeled chemicals to DNA. The very toxic and potent carcinogen, ...

1992-04-05

452

Polymorphisms in the p53 gene in thyroid tumours and blood samples of children from areas in Belarus  

International Nuclear Information System (INIS)

We present changes in the p53 gene in a group of 70 thyroid tumours and 40 blood samples obtained from children from Belarus. Three thyroid tumours show a polymorphism in exon 6 (codon 213) and 5 tumours show a polymorphism in intron 6, 37 bp upstream to the 5'-end of exon 7. Only one patient has a mutation in exon 7 (codon 258) resulting in an amino acid substitution in the protein p53. The distribution of polymorphisms in the 40 blood samples was as follows: three patients had a polymorphism in exon 6 and two persons had a polymorphism in intron 6. One polymorphism in intron 6 was also found in the group of 30 healthy children from Belarus. The fact that the differences in the sequence in p53 found in the tumours was also seen in the blood of these patients demonstrates that they are polymorphisms not induced by radiation exposure. It is difficult to conclude, if the polymorphisms found by us could be associated with the predisposition to radiation-induced ...

453

Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy  

British Library Electronic Table of Contents (United Kingdom)

Aims: Serotonin (5-hydroxytryptamine 3; 5-HT3) receptors are involved in chemotherapy-induced nausea and vomiting (CINV), and 5-HT3 antagonists are part of the `gold standard' antiemetic treatment during chemotherapy. We investigated the correlation of common variants in 5-HT3 receptor subunit genes with the occurrence of CINV. Materials & methods: A total of 110 previously characterized chemotherapy-naive women with primary breast cancer treated with anthracycline-containing chemotherapy served as a study group for mutational analysis by direct sequencing. Eight common SNPs in the 5-HT3 receptor genes, HTR3A, HTR3B, HTR3D and HTR3E, were selected for association analysis. Results: A nonsynonymous variant in HTR3D, p.G36A (rs6443930), was found to be over-represented in nonresponders, assu...

2010-01-01

454

Phosphomimetic mutation of the mitotically phosphorylated serine 1880 compromises the interaction of the transmembrane nucleoporin gp210 with the nuclear pore complex  

International Nuclear Information System (INIS)

The nuclear pore complexes (NPCs) reversibly disassemble and reassemble during mitosis. Disassembly of the NPC is accompanied by phosphorylation of many nucleoporins although the function of this is not clear. It was previously shown that in the transmembrane nucleoporin gp210 a single serine residue at position 1880 is specifically phosphorylated during mitosis. Using amino acid substitution combined with live cell imaging, time-lapse microscopy and FRAP, we investigated the role of serine 1880 in binding of gp210 to the NPC in vivo. An alanine substitution mutant (S1880A) was significantly more dynamic at the NPC compared to the wild-type protein, suggesting that serine 1880 is important for binding of gp210 to the NPC. Moreover a glutamate substitution (S1880E) closely mimicking phosphorylated serine specifically interfered with incorporation of gp210 into the NPC and compromised its post-mitotic recruitment to the nuclear envelope of daughter nuclei. Our findings are consistent ...

2007-07-15

455

Organisms posses enzymes that function in the repair of DNA damaged by radiations, chemicals and metabolic events  

International Nuclear Information System (INIS)

This report briefly describes the studies on the mechanism of in vivo DNA repairing by the author in Research Reactor Institute, Kyoto Univ. for the past 30 years. First, the ability of UV radiation to induce transformation was investigated with viral DNA. The formation of thymine-thymine dimer was found harmful to organisms and such dimers were removable by UV-radiation at a low frequency. The mutability was determined in three different E.coli strains with mutator gene, mutT, mutS or mutL. The ability to excise 8-oxoguanin developed in primer DNA was deficient in mutT and miss-pairing left after DNA replication could not be recovered in mutL and mutS strains. Further, DNA repairing mechanism was investigated in other microorganisms; single-strand cleavage caused by exposure to BNCB radiation (boron-neutron-captured beam) could not be repaired in E. coli. Whereas for Deinococcus radiodurans, of which survival rate was not decreased by #gamma#-ray radiation at 5 ...

1998-01-01

456

Mutations in cyr1 and pat1 reveal pheromone-induced G1 arrest in the fission yeast Schizosaccharomyces pombe  

DEFF Research Database (Denmark)

Investigations into sexual differentiation and pheromone response in the fission yeast Schizosaccharomyces pombe are complicated by the need to first starve the cells of nitrogen. Most mating-related experiments are therefore performed on non-dividing cells. Here we overcome this problem by using two mutants that bypass the nutritional requirements and respond to the M-factor mating pheromone in rich medium. The first mutant lacks the cyr1 gene which encodes adenylate cyclase and these cells contain no measurable amounts of cAMP. When M-factor is added to a growing h+ cyr1- strain it causes a transient G1 arrest of cell division, transcription of mat1-Pm, and elongation of the cells to form shmoos. The second mutant contains the temperature-sensitive pat1-114 allele. At 30 degrees C this mutant was previously shown not only to bypass the nutritional signal but also to stop growing in a state derepressed for pheromone-controlled functions. We now report that an h+ pat1-114 strain ...

1994-01-01

457

Mitochondrial genetic damage induced in yeast by a photoactivated furocoumarin in combination with ethidium bromide or ultraviolet light  

International Nuclear Information System (INIS)

Ethidium bromide (EB) and ultraviolet light (UV) in combination are known to produce a synergistic induction of 'petite' mutants in yeast. Two other agents were combined with EB, 3-Carbethoxypsoralene (3 CPs) activated by 365 nm light or #gamma# rays. EB in combination with 3 CPs also resulted in an enhanced production of 'petite' mutants. After the photoaddition of 3 CPs in exponential phase cells, recovery of the 'petite' mutation during dark liquid holding was inhibited by the presence of EB producing an enhanced number of 'petite' mutants. The behavior of mitochondrial antibiotic resistance markers after individual and combined treatments with EB and 3 CPs indicates a random loss of markers after EB and a preferential loss of a certain region for the 3 CPs photoaddition. The combination of the two agents leads to an additivity of total drug marker losses rather than a synergistic loss. The combination of EB with #gamma# rays produced no enhancement in 'petite' ...

458

Loss of PINK1 function decreases PP2A activity and promotes autophagy in dopaminergic cells and a murine model  

British Library Electronic Table of Contents (United Kingdom)

Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Mutations in PTEN-induced kinase 1 (PINK1) are a frequent cause of recessive PD. Autophagy, a pathway for clearance of protein aggregates or impaired organelles, is a newly identified mechanism for PD development. However, it is still unclear what molecules regulate autophagy in PINK1-silenced cells. Here we report that autophagosome formation is promoted in the early phase in response to PINK1 gene silencing by lentivirus transfer vectors expressed in mouse striatum. Reduced PP2A activity and increased phosphorylation of PP2A at Y307 (inactive form of PP2A) were observed in PINK1-knockdown dopaminergic cells and striatum tissues. Treatment with C2-ceramide (an agonist of PP2A) reduced autophagy levels in PINK...

2011-01-01

459

Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa  

British Library Electronic Table of Contents (United Kingdom)

The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the ? subunit of rod cGMP-phosphodiesterase (PDE?). Rd10 mouse exhibits photoreceptor dysfunction and rapid rod photoreceptor degeneration followed by cone degeneration and remodeling of the inner retina. Here, we evaluate whether gene replacement using the fast-acting tyrosine-capsid mutant AAV8 (Y733F) can provide long-term therapy in this model. AAV8 (Y733F)-smCBA-PDE? was subretinally delivered to postnatal day 14 (P14) rd10 mice in one eye only. Six months after injection, spectral domain optical coherence tomography (SD-OCT), electroretinogram (ERG), optomotor behavior tests, and immunohistochemistry showed tha...

2011-01-01

460

Isolation of fetal DNA from nucleated erythrocytes in maternal blood  

Energy Technology Data Exchange (ETDEWEB)

Fetal nucleated cells within maternal blood represent a potential source of fetal genes obtainable by venipuncture. The authors used monoclonal antibody against the transferrin receptor (TIR) to identify nucleated erythrocytes in the peripheral blood of pregnant women. Candidate fetal cells from 19 pregnancies were isolated by flow sorting at 12 1/2-17 weeks gestation. The DNA in these cells was amplified for a 222-base-pair (bp) sequence present on the short arm of the Y chromosome as proof that the cells were derived from the fetus. The amplified DNA was compared with standardized DNA concentrations. In the case of the female fetus, DNA prepared from samples at 32 weeks of gestation and cord blood at delivery also showed the presence of the Y chromosomal sequence, suggesting Y sequence mosaicism or translocation. In 10/12 cases where the 222-bp band was absent, the fetuses were female. Thus, they were successful in detecting the Y chromosomal sequence in 75% of the male-bearing ...

1990-05-01

461

Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130  

Energy Technology Data Exchange (ETDEWEB)

The chicken extracellular matrix glycoprotein ES/130 is necessary for epithelial-mesenchymal transformation in the developing hear and is also expressed in noncardiac chicken tissues such as limb and notochord. We have identified hES, the human homology of chicken ES/130. Fluorescence in situ hybridization analysis (FISH) localizes hES to human chromosome 20p11.2-p12. FISH analyses of individuals with 20p12 deletions and affected by Alagille syndrome exclude hES as a candidate gene for this disorder. Reverse transcriptase-polymerase chain reaction studies reveal that hES is expressed in both fetal and adult human tissues and that hES expression in the left ventricle is increased in the failing adult heart. Further studies will evaluate how hES mutations may relate to congenital human cardiac and skeletal anomalies as well as cardiac remodeling in the adult. 16 refs., 2 figs.

1996-08-01

462

Identification of the binding domain for NADP"+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants  

International Nuclear Information System (INIS)

Human erythrocyte glucose-6-phosphate is normally quite stable in the presence of 10 #mu#M NADP"+. Certain glucose-6-phosphate dehydrogenase variants lose virtually all their activity at this concentration of NADP"+ but are reactivated by 200 #mu#M NADP"+. Such variants presumably have a defect in their NADP"+-binding site. The authors analyzed the sequence of cDNA or genomic DNA from seven unrelated patients with hemolytic anemia due to the inheritance of variants that are reactivated by NADP"+. Six patients had substitutions of one of three adjacent amino acids, and the seventh patient had another amino acid substitution 23 residues downstream. These amino acids are highly conserved, all being present in rat and all but one being found also in Drosophila. The anomalous electrophoretic behavior of some of the variants can be explained by their loss of ability to bind NADP"+. The conclude that the region in which these mutations occur defines the binding domain for ...

463

Homology analyses of the protein sequences of fatty acid synthases from chicken liver, rat mammary gland, and yeast  

Energy Technology Data Exchange (ETDEWEB)

Homology analyses of the protein sequences of chicken liver and rat mammary gland fatty acid synthases were carried out. The amino acid sequences of the chicken and rat enzymes are 67% identical. If conservative substitutions are allowed, 78% of the amino acids are matched. A region of low homologies exists between the functional domains, in particular around amino acid residues 1059-1264 of the chicken enzyme. Homologies between the active sites of chicken and rat and of chicken and yeast enzymes have been analyzed by an alignment method. A high degree of homology exists between the active sites of the chicken and rat enzymes. However, the chicken and yeast enzymes show a lower degree of homology. The DADPH-binding dinucleotide folds of the {beta}-ketoacyl reductase and the enoyl reductase sites were identified by comparison with a known consensus sequence for the DADP- and FAD-binding dinucleotide folds. The active sites of all of the enzymes are primarily in hydrophobic regions of ...

1989-11-01

464

Hemoglobin of mice with radiation-induced mutations at the hemoglobin loci  

International Nuclear Information System (INIS)

Chemical analyses were done on the abnormal hemoglobins of the five (101 x SEC)F_1 offspring of X- irradiated adult SEC mice to determine which hemoglobin genes were expressed in each hemoglobin variant. Three offspring of irradiated SEC males did not express either of the two kinds of #alpha#-chains normally found in all SEC mice. The deficient #alpha#-chain synthesis caused these mice to exhibit an #alpha#-thalassemia similar to human #alpha#-thalassemia. Scanning electron microscopy was used to show that many erythrocytes of mice with #alpha#-thalassemia have bizarre shapes; e.g. many erythrocytes appeared flattened or had thorny projections (acanthocytes). One mutant with a tandem duplication of a segment of chromosome 7 (site of locus determining #beta#-chain structure) produced twice as much SEC as 101 #beta#-chain polypeptides. One mutant that probably arose by non-disjunction of chromosome 7's in its unirradiated 101 mother and loss of chromosome 7 from the gamete of its ...

465

Genotoxic effects of sunlight-activated waste waters  

Energy Technology Data Exchange (ETDEWEB)

Natural sunlight induces a genotoxic response in cultured CHO cells pre-treated with shale oil retort process water. Near ultraviolet light (NUV) component of the solar spectrum is the apparent radiation responsible for photoactivation. Cultured human skin fibroblasts are acutely sensitive to the genotoxic effects of photoactivated process water. The mutagenic potential of photoactivated process water in human cells is the same as that witnessed for an equivalent killing dose of the potent skin carcinogen FUV. DNA repair processes are involved in modulating genotoxic effects of this photo-induced process. The exact magnitude of the potential health-related and environmental risks resulting from photoactivation of retort process waters and other oil shale by-products is unassessed at this time. Our demonstration that a significant rate of mutation occurs in cultured human cells exposed to high dilutions of process waters and fluences of NUV comparable to that ...

1981-01-01

466

Evolutionary dynamics of Newcastle disease virus  

International Nuclear Information System (INIS)

A comprehensive dataset of NDV genome sequences was evaluated using bioinformatics to characterize the evolutionary forces affecting NDV genomes. Despite evidence of recombination in most genes, only one event in the fusion gene of genotype V viruses produced evolutionarily viable progenies. The codon-associated rate of change for the six NDV proteins revealed that the highest rate of change occurred at the fusion protein. All proteins were under strong purifying (negative) selection; the fusion protein displayed the highest number of amino acids under positive selection. Regardless of the phylogenetic grouping or the level of virulence, the cleavage site motif was highly conserved implying that mutations at this site that result in changes of virulence may not be favored. The coding sequence of the fusion gene and the genomes of viruses from wild birds displayed higher yearly rates of change in virulent viruses than in viruses of low virulence, suggesting that an ...

2009-08-15

467

Endonuclease IV of Escherichia coli is induced by paraquat  

International Nuclear Information System (INIS)

The addition of paraquat (methyl viologen) to a growing culture of Escherichia coli K-12 led within 1 hr to a 10- to 20-fold increase in the level of endonuclease IV, a DNase for apurinic/apyrimidinic sites. The induction was blocked by chloramphenicol. Increases of 3-fold or more were also seen with plumbagin, menadione, and phenazine methosulfate. H_2O_2 produced no more than a 2-fold increase in endonuclease IV activity. The following agents had no significant effect: streptonigrin, nitrofurantoin, tert-butyl hydroperoxide, #gamma# rays, 260-nm UV radiation, methyl methanesulfonate, mitomycin C, and ascorbate. Paraquat, plumbagin, menadione, and phenazine methosulfate are known to generate superoxide radical anions via redox cycling in vivo. A mutant lacking superoxide dismutase was unusually sensitive to induction by paraquat. In addition, endonuclease IV could be induced by merely growing the mutant in pure O_2. The levels of endonuclease IV in uninduced or paraquat-treated cells ...

468

Effect of chronic fractionated low-dose gamma irradiation on division potential of human embryonic cells in vitro  

Energy Technology Data Exchange (ETDEWEB)

We investigated the in vitro phenotypic transformation of human embryo (HE) cells that were repeatedly irradiated (7.5 cGy once a week) throughout their life-span. Irradiation was repeated until the cells had accumulated 195 cGy (equivalent to the 26th passage). Samples of cells were assayed for survival by colony formation, as well as for mutation at the hypoxanthine guanine phosphoribosyl transferase (HGPRT) locus and for transformation by focus formation. The life-span (mean number of population doublings) of multiply irradiated cells with a total dose of 97.5 cGy was slightly but significantly prolonged over that of controls. After HE cells had accumulated 195 cGy, the maximum number of divisions increased to 130-160% of the number in non-irradiated control cells. Transformed foci were not observed until cells had accumulated 97.5 cGy, and then increased with the increasing accumulation of radiation. However, no cells showed immortality or expressed a malignant ...

1991-12-01

469

Development of a novel mouse tk{sup +/-} embryonic stem cell line for use in mutagenicity studies  

Energy Technology Data Exchange (ETDEWEB)

A tk{sup +/-} mouse embryonic stem (ES) cell line, designated 1G2, has been created in which one allele of the thymidine kinase (tk) gene was inactivated by targeted homologous recombination. This line is an analog of the mouse lymphoma tk{sup +/-} L5178Y cell line, which is used widely to assess the mutagenicity of chemical agents. Treatment of 1G2 cells with the alkylating agent N-ethyl-N-nitrosourea (ENU) resulted in a dose-related increase in tribluorothymidine-resistant colonies. Mutant frequencies of 152 and 296 per 10{sup 6} cells were determined for 0.1 and 0.3 mg/ml doses of ENU, compared with a spontaneous mutant frequency of 15 per 10{sup 6} cells. The data indicate that tk{sup +/-} 1G2 ES cells may be useful for the creation of a transgenic mouse model for assessing in vivo mutation using an endogenous autosomal gene. 45 refs., 2 figs., 1 tab.

1996-12-31

470

Current status of a hepatitis C vaccine: encouraging results but significant challenges ahead  

DEFF Research Database (Denmark)

Persistent hepatitis C virus (HCV) infection affects 170 million people worldwide. Acute HCV infection is often asymptomatic, but many infected individuals develop persistent infections that may lead to development of end-stage liver diseases, including liver cirrhosis and hepatocellular carcinoma. Thus, an HCV vaccine that could significantly lower the chronicity rate would have a major impact on the disease burden. Unfortunately, HCV is a highly mutable virus, and escape mutations can undermine vaccine-induced virus-specific immunity. Also, HCV exists as multiple genotypes, and so genotype-specific vaccines might be required to achieve broad protection. Finally, vaccine development has been hampered by the lack of a small animal model and cell culture systems, but these are currently being established. Despite these obstacles, several vaccine candidates tested in the chimpanzee HCV model have shown some encouraging results.

2007-01-01

471

Characterization of mal recombination plasmids cloned in Streptococcus pneumoniae  

Energy Technology Data Exchange (ETDEWEB)

The malM locus of Streptococcus pneumoniae was cloned into one of the two PstI sites of the multicopy S. pneumoniae plasmid pMV158. To eliminate chromosomal transformants in the simultaneous selection for tetracycline resistance (coded by pMV158) and maltose utilization, the host cells contained a chromosomal deletion of the mal gene cluster. Two clones were isolated; one with a 3.3 kb insert (pLS70) which behaved like wild type with respect to maltose utilization, and another with a 2.9 kb insert (pLS69) which behaved as though it contained a down promoter mutation. Preliminary mapping of these clones by restriction analysis placed the 0.4kb deletion on a HindIII fragment in the interior of the chromosomal insert. The recombinant plasmids were able to transform over 50% of a recipient population to Mal/sup +/. Enzyme measurements of the clones indicated an overproduction of amylomaltase, constituting up to 10% of the total cellular protein, and supported the ...

1981-01-01

472

Antioxidant and toxicity tests of roasted noni (Morinda citrifolia) leaf infusion  

British Library Electronic Table of Contents (United Kingdom)

Summary The antioxidant properties and toxicity profile of roasted noni (Morinda citrifolia L.) leaf infusion were evaluated. The 2,2-diphenylpicrylhydrazyl (DPPH) radical scavenging activity was greater than green tea infusion (81.6 +- 0.9% vs. 57.5 +- 1.8%, P < 0.001). The mean quercetin and kaempferol contents of roasted noni leaf infusion, as prepared by the consumer, were 0.24 +- 0.01 and 0.14 +- 0.01 mg mL-1, respectively. Tannic acid content was 10 +- 1 mg mL-1. The infusion was non-mutagenic in the reverse mutation test in Salmonella typhimurium and did not induce primary DNA damage in E. coli PQ37. Further, no significant primary DNA damage was induced by 5,15-dimethylmorindol, which was the only detectable anthraquinone in noni leaves. The infusion was not cytotoxic in the 24 h b...

2009-01-01

473

Analysis of the 5{prime} region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene  

Energy Technology Data Exchange (ETDEWEB)

The PMS2 gene encodes a protein that is involved in DNA mismatch repair and is mutated in a subset of patients with hereditary nonpolyposis colon cancer (HNPCC). The previously published PMS2 cDNA sequence lack an upstream in-frame stop codon preceding the presumptive initiating methionine. To evaluate the 5` terminus of the PMS2 coding region further, we isolated additional cDNA clones, RT-PCR products, and the corresponding 5` genomic segment of the PMS2 locus. The PMS2 gene transcripts were found to have heterogeneous but colinear 5` termini, one of which contained an in-frame termination codon preceding the initiating methionine. In addition, a novel gene encoding a 34.5-kDa polypeptide was found to initiate transcriptionally within PMS2 from the opposite strand. 23 refs., 5 figs., 2 tabs.

1995-09-20

474

Aging, tumor suppression and cancer: High-wire act!  

Energy Technology Data Exchange (ETDEWEB)

Evolutionary theory holds that aging is a consequence of the declining force of natural selection with age. We discuss here the evidence that among the causes of aging in complex multicellular organisms, such as mammals, is the antagonistically pleiotropic effects of the cellular responses that protect the organism from cancer. Cancer is relatively rare in young mammals, owing in large measure to the activity of tumor suppressor mechanisms. These mechanisms either protect the genome from damage and/or mutations, or they elicit cellular responses--apoptosis or senescence--that eliminate or prevent the proliferation of somatic cells at risk for neoplastic transformation.We focus here on the senescence response, reviewing its causes, regulation and effects. In addition, we describe recent data that support the idea that both senescence and apoptosis may indeed be the double-edged swords predicted by the evolutionary hypothesis of antagonistic pleiotropy--protecting ...

2004-08-15

475

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant coloboma  

Energy Technology Data Exchange (ETDEWEB)

Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best ...

1995-12-18

476

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects  

Science.gov (United States)

Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{sup {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.

1996-06-28

477

The 10 basic requirements for a scientific paper reporting antioxidant, antimutagenic or anticarcinogenic potential of test substances in in vitro experiments and animal studies in vivo  

DEFF Research Database (Denmark)

There is increasing evidence that chemicals/test substances cannot only have adverse effects, but that there are many substances that can (also) have a beneficial effect on health. As this journal regularly publishes papers in this area and has every intention in continuing to do so in the near future, it has become essential that studies reported in this journal reflect an adequate level of scientific scrutiny. Therefore a set of essential characteristics of studies has been defined. These basic requirements are default properties rather than non-negotiables: deviations are possible and useful, provided they can be justified on scientific grounds. The 10 basic requirements for a scientific paper reporting antioxidant, antimutagenic or anticarcinogenic potential of test substances in in vitro experiments and animal studies in vivo concern the following areas: (1) Hypothesis-driven study design; (2) The nature of the test substance; (3) Valid ...

2003-01-01

478

Stable isotope studies on iron bio-availability in young Indian women: Effects of nutritional status, interactions and ethnicity  

International Nuclear Information System (INIS)

Iron is an essential micronutrient. As an integral part of hemoglobin, it is essential for the transport of oxygen in blood to the tissues. It is an important component of cytochromes and other tissue enzymes that are critical for cellular respiration and of myoglobin that helps maintain oxygen reserve in the muscle. It is also involved in the normal functioning of the immune function, and in the synthesis of steroid hormones and bile acids. There are serious functional consequences to iron deficiency and iron deficiency anemia (IDA) in the human body. The deleterious effects include increased morbidity, preterm delivery, low birth weight, delayed cognitive development, lowered cellular immunity and reduced physical work capacity. However, iron deficiency and IDA remain the world's most common deficiency disease in the 21st century. Recent estimates of people affected with iron deficiency and IDA are 3.5 billion. Iron deficiency anemia is most ...

2002-06-24

479

Multielement determination of major-to-ultratrace elements in salmon egg by ICP-AES and ICP-MS  

Energy Technology Data Exchange (ETDEWEB)

The multielement determination of major-to-ultratrace elements in salmon egg was carried out by ICP-AES and ICP-MS. First, salmon eggs (30 eggs used) were digested with conc. nitric acid and 60% perchloric acid by heating almost to dryness repeatedly. Finally, the residues of salmon eggs were dissolved in 1 M nitric acid and the sample solutions were analyzed by ICP-AES and ICP-MS. About 40 elements could be determined over the concentration range in 9 orders of magnitude. The concentrations of bio-essential elements, such as Zn, Fe, and Cu, in salmon egg were 10-100 times higher than those in human blood serum. In addition, the major-to-ultratrace elements in cell cytoplasm and cell membrane were separately determined in a similar manner to those in whole egg cell. The concentrations of most bio-essential elements were higher in cell cytoplasm than in cell membrane, while those of Fe and Cu were higher in cell membrane than in cell cytoplasm ...

2002-04-01

480

Free amino acid distribution in plasma and liver of juvenile cobia (Rachycentron canadum) fed increased levels of lizardfish silage  

British Library Electronic Table of Contents (United Kingdom)

Abstract Juvenile cobia (Rachycentron canadum) (100-g) were fed four moist diets (447-476-g-kg-1-dry-wt) where 0, 130, 260 or 390-g-kg-1 of concentrated lizardfish (Saurida undosquamis) silage replaced fresh lizardfish, respectively. Blood and livers were sampled at 0, 6, 12, 24 and 48-h postfeeding at the end of the 3-week experiment. At 6-h postfeeding in all groups, maximum concentrations of most plasma essential amino acids were observed, while significantly lower levels of most non-essential amino acid levels were recorded compared to the other sampled times. At 6 and 12-h after feeding, the concentration of most plasma free amino acid (FAA) increased with an increase in dietary fish silage levels. Most FAA in livers of all groups peaked at 12 and 24-h postfeeding. However, at 48-h po...

2011-01-01

481

Extraction of molybdenum with a multielement liquid organic extraction system  

Science.gov (United States)

An extraction of molybdenum is described that provides a more predictable separation over a significantly wider acidity range than previously determined. The extraction of Mo appeared to be a function of HCl normality, with virtually complete separation above 3.6 N. A test was conducted to determine if the extraction was a function of just HCl concentration or of overall acidity. When the aqueous phases of the test sequence were all prepared at 1 N H/sub 2/SO/sub 4/ in addition to the HCl in each, the resulting extraction curves were essentially identical. Another test was performed to determine if Mo was being extracted as an iodide complex. Three aqueous solutions, which were 4 N in HCl and 26% (w/v) ascorbic acid, were prepared in culture tubes. When 25 ..mu..g of Mo was extracted from these solutions of 5 mL of organic phase, the KCl gave only a 16% extraction, the KBr gave only a 22% extraction, and the KI provided an essentially total ...

1985-10-01

482

Effect of low copper content and heat treatment on intergranular corrosion of model AlMgSi alloys  

International Nuclear Information System (INIS)

Certain 6000-series extrusions may develop susceptibility to intergranular corrosion (IGC) by improper heat treatment, especially if copper is present as an alloying element. Although occurrence of IGC in such cases is documented, the underlying mechanisms are not adequately explained. We present corrosion data for two model alloys, having different Cu content and Mg:Si ratio, showing that the susceptibility to IGC depended primarily on the Cu content and secondly on thermal processing. Low Cu samples (0.0005 wt.% Cu) were essentially resistant to IGC. High Cu samples (0.12 wt.% Cu), which were air cooled after extrusion, exhibited significant IGC. However, IGC susceptibility was reduced significantly as a result of artificial aging to peak strength. Water quenched high Cu samples were essentially resistant to IGC. However, slight IGC susceptibility was introduced after aging. Electron optical characterisation revealed Al_4Mg_8Si_7Cu_2 ...

2006-01-01

483

Educating College Students with Disabilities: What Academic & Fieldwork Educators Need To Know.  

Science.gov (United States)

This book is designed to provide occupational therapist and occupational therapists and assistant educators with information on the rights of higher education students with disabilities and the rights of the occupational therapy profession to uphold its standards. Chapter 1, "Legal Foundations," provides an overview of federal law, implementing regulations, and student and faculty rights and responsibilities. Chapter 2, "Investigating Existing Institutional Resources and Establishing Linkages," discusses required campus access services, campus support structures, compliance officers, and student advocacy groups. The following chapter, "Technical Standards and Essential Requirements," addresses qualified students, technical standards determination, and essential program requirements. Chapter 4, "Auxiliary Aids, Academic Adjustments, and Reasonable Accommodations," discusses test-taking accommodations, waiving course requirements, tape ...

1996-12-01

484

Distribution of /sup 14/C after oral administration of (1-/sup 14/C)linoleic acid in rats fed different levels of essential fatty acids  

Energy Technology Data Exchange (ETDEWEB)

Rats from an inbred Sprague-Dawley strain were fed semisynthetic diets with a low (0.3 energy percent (en %)), normal (3 en %) or high (10 en %) content of essential fatty acids (EFA) for at least three generations. Twenty-nine- to 33-day-old male rats were given a single intragastric dose of (1-14C)linoleic acid in olive oil, and the respiratory CO2, urine and feces were collected for 46 hours (expt 1) or 20 hours (expt 2). The 14C activity in respiratory CO2, feces, urine and the carcass was determined in both experiments. In experiment 2 it was also measured in samples of the brown fat, liver, adrenals, white fat, skeletal muscles and brain. In both experiments the rats fed the low EFA diet retained significantly more 14C activity than the rats fed the normal or high EFA diets. In all groups the concentration of label was highest in the brown fat and the adrenals, but the above differences among the groups with respect to 14C retention were mainly observed in ...

1984-09-01

485

Activity of Citrus Essential Oils against-Escherichia coli-O157:H7 and-Salmonella-spp. and Effects on Beef Subprimal Cuts under Refrigeration  

British Library Electronic Table of Contents (United Kingdom)

Abstract:- Escherichia coli-O157:H7 and-Salmonella-spp. are bacterial pathogens often associated with beef, and cause many cases of foodborne illness each year in the United States. During beef slaughter and processing, these bacteria may spread from the hide or intestines to the carcass. The objective of this research was to investigate the use of naturally occurring compounds citrus essential oils (CEOs) extracted from orange peel to reduce or eliminate these pathogens at the chilling stage of processing, or during fabrication. Brisket flats (used to simulate beef subprimals) were spot inoculated with approximately 6 log of surrogate generic-E. coli-cocktail (previously shown to be identical in growth and survival parameters to-E. coli-O157:H7 and-Salmonella-spp.). Following drying, CEOs...

2011-01-01

486

Will the concept of protection of existing status persist?; Hat der Bestandsschutz noch Bestand?  

Energy Technology Data Exchange (ETDEWEB)

Reviewing all hitherto known plans or drafts for a reform of the atomic energy law, one can expect that the current legal concept of affording protection of existing (legal) status of nuclear facilities will not essentially be watered down by future developments, unless an act is passed for a nuclear power phase-out. (orig.) [Deutsch] Die bislang bekannt gewordenen Reformbestrebungen legen die Vermutung nahe, dass der Bestandsschutz fuer atomrechtliche Anlagen, sofern nicht ein Kernenergie-Abwicklungsgesetz zum Tragen kommt, mit Abstrichen auch in Zukunft rechtlichen Bestand haben wird. (orig.)

1995-12-31

487

Wetlands stewardship  

Energy Technology Data Exchange (ETDEWEB)

Wetlands have important ecological values and functions. It is estimated that 80 percent of the Nation's coastal fisheries are dependent on wetlands for spawning, nursery areas, and food sources. Both coastal and inland wetlands provide essential breeding, nesting, feeding, and predator escape habitats for millions of waterfowl, other birds, mammals, and reptiles. Well over one-third of the 564 plant and animal species listed as threatened or endangered in the United States utilize wetland habitats during some portion of their life cycle. Wetlands Stewardship is intended as a resource for everyone interested in wetlands protection.

1992-04-01

488

Structural engineering and noise pollution abatement. Improvements that can be measured  

Energy Technology Data Exchange (ETDEWEB)

Structural engineering implies four factors particularly relevant to sonics: airborne noise abatement, insulation of plumbing, by-pass insulation and noise absorption (noise abatement). These are exemplified with special regard to methodical and/or product-specific noise pollution abatement measures. Besides, reference is made to DIN standards 4109 providing both engineers with practical advice and pipe fitters or plumbers with concrete examples for application. VDI recommendations 3733 convey essential knowledge of how to properly apply sonic principles in the planning, design and installation of pipes. (BR).

1985-06-01

489

Refiners wrestle with air pollution  

Energy Technology Data Exchange (ETDEWEB)

Survey report: The Petroleum Association for the Conservation of the Canadian Environment is an organization of petroleum refiners that works closely with the Canadian government to set realistic air pollution control standards for refinery emissions. To date, the refiners have made a substantial investment in pollution abatement equipment. As a result, there have been no major pollution incidents traceable to refinery emissions. In the future, it will be essential that refiners continue to invest in air pollution abatement measures and continue to cooperate with the government in setting achievable pollution control standards. (1 photo, 1 table)

1980-01-01

490

Physical characteristics and solubility of long-lived airborne particulates in uranium producing and manufacturing facilities: A report upon completion of the extension to Phase I of the study. Research report No. INFO-0363-1  

Energy Technology Data Exchange (ETDEWEB)

Study of the rate of dissolution in simulated lung fluid of uranium from 3 different ore matrices and from refined uranium dioxide in an essentially all teflon extraction apparatus; the rate of dissolution of thorium from a nickel metal/2 percent thoria mixture; the effect of neutron irradiation of the studied materials upon the dissolution rates; and the adsorptions of the radioisotope tracers barium 133 (substitute for radium), lead 203 and thorium 234 upon the extraction system components.

1989-01-01

491

New coal liquids R D to begin  

Energy Technology Data Exchange (ETDEWEB)

The US DOE is calling on the nations' industries and academic institutions to develop a new approach for converting coal into liquid fuels at costs that can be competitive with imported oil. Based on a number of innovations, the department is looking for new approaches that can substantially reduce the cost of liquids from coal, essentially capping the price of imported oil. If successful, the new process will define the next generation of coal liquefaction technology and represent a dramatic improvement over the current state-of-the-art integrated two-stage process. 1 fig.

1989-12-01

492

Metabolism of benzo(a)pyrene by isolated perfused testis and testicular homogenate  

Energy Technology Data Exchange (ETDEWEB)

In an effort to improve the extrapolation of laboratory data to man and estimate risk of human reproductive toxicity associated with environmental exposure, the pharmacokinetic parameters of the testicular compartment are being studied. Of particular interest is the variety of enzyme systems capable of activating and detoxicating environmental chemicals and drugs. This report compares the metabolism of benzo(a)pyrene by the isolated perfused testis and testicular homogenates in vitro. The cell free in vitro system metabolized benzo(a)pyrene at a much greater rate than the perfused testis and produced a different spectrum of metabolites. Reliable laboratory prediction of biotransformation by the whole organ or intact animal is an essential aspect of reproductive toxicology.

1980-12-01

493

Installation, operation and economics of a biomass gasification system in Indonesia  

Energy Technology Data Exchange (ETDEWEB)

Many rural industries generate amounts of biomass waste, such as rice husks, sawdust, wood chips, nutshells and plant stalks that represent a substantial energy resource. However, most often these biomass wastes are not utilized and are dumped or burned in the open. This paper will show the whole project cycle of an installation and commissioning of a thermal configuration of a BG-Systems in Indonesia. These projects highlight the economic, operational and environmental benefits of the BG-Systems. BG-Systems are small fixed-bed downdraft gasifier systems being marketed by BG Technologies that convert biomass into a producer gas that is essentially free of tars and can be used reliably in a diesel engine or thermal combustor. (author)

1999-07-01

494

Inelastic electron--dipole-molecule scattering at sub-milli-electron-volt energies: HF and NH_3  

International Nuclear Information System (INIS)

Studies of destruction of very-high-n (100essentially-free-electron model suggests that, for ultralow electron energies (#approx#80 #mu#eV--1.4 meV), the cross section #sigma#(var-epsilon) for rotationally inelastic scattering of electrons by a polar target varies approximately as 1/var-epsilon, where var-epsilon is the electron energy.

495

Coverage and large scale anisotropies estimation methods for the Pierre Auger Observatory  

Energy Technology Data Exchange (ETDEWEB)

When searching for anisotropies in the arrival directions of Ultra High Energy Cosmic Rays, one must estimate the number of events expected in each direction of the sky in the case of a perfect isotropy. We present in this article a new method, developed for the Auger Observatory, based on a smooth estimate of the zenith angle distribution obtained from the data itself (which is essentially unchanged in the case of the presence of a large scale anisotropy pattern). We also study the sensitivity of several methods to detect large-scale anisotropies in the cosmic ray arrival direction distribution : Rayleigh analysis, dipole fitting and angular power spectrum estimation.

2005-07-01

496

Conformal radiation therapy: technical requirements and clinical applications  

International Nuclear Information System (INIS)

Conformal radiation therapy represents a considerable and attractive challenge in oncology. Its aim is mainly to improve local control by increasing the dose with an acceptable rate of complications. This work overviews the world literature on this subject. The technical and theoretical requirements are highlighted. These requirements include a precise definition of the target volume by digital imaging (essentially CT scan), but also clear view of the target volume and the organs at risk, a specific collimation of the beam, 3-D dose calculations, optimization procedures, and a rigid immobilization of the patient with verification of his position. Moreover, the clinical applications of conformal radiation therapy are reviewed and discussed. (authors). 80 refs., 1 tab.

1995-01-01

497

Anesthetic considerations for nontransplant procedures in lung transplant patients  

British Library Electronic Table of Contents (United Kingdom)

Lung transplantation has become an accepted option for many patients with end-stage pulmonary diseases. Anesthesia and surgery following lung transplantation may be required for various diseases that may affect both systemic organs and the transplanted graft. When a patient with a lung transplant undergoes surgery, there is the potential for interference with lung function, depending on the type of intervention and its anatomical site. Accurate preoperative evaluation, an understanding of the physiology of the transplanted lung, proper airway instrumentation, individualized management of intraoperative ventilation, and fluid balance are essential for a positive perioperative outcome.

2011-01-01

498

Analysis of the tet repressor-operator interactions using the uracil-DNA glycosylase footprinting system  

Energy Technology Data Exchange (ETDEWEB)

The tet repressor regulated expression of the Tn-10-encoded tetracycline resistance determinant in a tetracycline-dependent manner. In the absence of tetracycline, the tet repressor binds as a dimer to the 19-base-pair palindromic tet operator sequence. Amino acid homologies and genetic studies with trans-dominant mutants suggest that sequence-specific recognition of the tet operator involves the extensively studied helix-turn-helix motif. We have used the uracil-DNA glycosylase (UDG) footprinting systems to identify thymine contacts in the tet operator that are essential for the formation of tet repressor-operator complexes.

1994-12-31

499

An intracranial aspergilloma with low signal on T2-weighted images corresponding to iron accumulation  

Energy Technology Data Exchange (ETDEWEB)

We present a case of cerebral aspergillosis in an immunocompetent patient. The MRI signal characteristics were compared with the histologic findings. Irregular low-signal zones were demonstrated between the wall of the abscess and the central necrosis on T2-weighted images; the pathology specimen revealed concentrated iron in these transitional zones but no hemosiderin. Iron is an essential element for the growth of fungal hyphae. The low-signal zones may represent the areas where there was active proliferation of aspergillus, and the unique location of the low signal may be a helpful imaging characteristic for the diagnosis of an aspergillus abscess. (orig.)

2001-07-01

500

Air pollution abatement measures  

Energy Technology Data Exchange (ETDEWEB)

The major inquiry of the political party 'Die Gruenen' touches all problems connected with air pollution. The Federal Government states that an extensive air pollution abatement program, i.e. the revision of existing regulations and implementation of new ones has been allowing the realization of all essential environmental aims originally headed for three years ago in the field of air pollution abatement. Achievements such as these will bring about another obvious improvement of the air quality of the Federal Republic of Germany in the coming years. The recent development of energy economy has also proved to be having an obivously positive effect on the environment and pollution abatement. (HSCH).

1987-01-14