lacks gata1 mutation: Topics by WorldWideScience.org

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

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

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In vivo footprinting of the human [alpha]-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction

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

4

Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.

A major regulatory element required for expression of the human [alpha]-globin genes is located 40 kb upstream of the embryonic [zeta]-globin gene. To understand how this and other locus control region (LCR) elements contribute to high-level expression in erythroid cells, we have performed high-resolution, in vivo dimethyl sulfate footprinting. In addition, we have modified the dimethyl sulfate-based ligation-mediated polymerase chain reaction in vivo footprinting procedure to permit the assessment of interactions at guanine and adenine residues, rather than guanines alone. In vivo footprinting of the human [alpha]-LCR element carried on chromosome 16 in a mouse erythroleukemia cell environment revealed protein occupancy at GATA-1, AP-1/NF-E2, and CACC/GGTGG motifs, specific differences compared with in vitro protein binding, and distinct changes in one region upon dimethyl sulfoxide-induced cellular maturation. No protein contacts were ...

1992-05-01

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PAX6 Mutations and Clinical Features of Congenital Aniridia

PMID:20880255

2010-12-01

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KoreaScience (Korea)

Full Text Available

2008-11-01

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

Endonuclease IV of Escherichia coli is induced by paraquat

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+ ...

1994-01-01

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

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 ...

9

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

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

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

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

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

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.

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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

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).

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Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

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

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

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

15

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

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The early phase change Gene in Maize

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

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

17

A framework for evolutionary systems biology

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

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

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

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Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

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

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Mutation breeding in leguminous crop plants

Udgivelsesdato: 2006/8

2006-01-01

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

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

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

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

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

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

24

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

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

25

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

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

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

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

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Mutational analysis of bacteriophage lambda lysis gene S.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells

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

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

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

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Detection of Mitochondrial DNA Mutations in Mammary ...

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

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

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

2004-09-01

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

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

42

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

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

43

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

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

Health education for microcredit clients in Peru: a randomized controlled trial

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

45

DNA replication in Escherichia coli mutants that lack protein HU.

BackgroundPoverty, lack of female empowerment, and lack of education are major risk factors for childhood illness worldwide. Microcredit programs, by offering small loans to poor...Full Text Available

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The vacuolar processing enzyme (VPE) mutation suppresses an HR-like cell death induced by the double knockout mutant of vacuolar Ca2+-ATPases in Arabidopsis

DNA replication in Escherichia coli cells lacking protein HU was studied. HU has been suggested to be involved in the initiation of replication from in vitro studies. The isolated HU mutants, however,...Full Text Available

1989-10-01

47

KoreaScience (Korea)

Full Text Available

2011-06-01

48

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

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State II Dissociation Element Formation Following Activator Excision in Maize

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

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

2007-10-01

50

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

2011-01-01

51

Ras history

Prosthetic rehabilitation of hypophosphatasia: a case report

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

52

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

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

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Mutations in RNA Binding Protein Gene Cause Familial Dilated Cardiomyopathy

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.

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Mutation frequency in hprt gene in children accidentally exposed to ionizing radiations; Frequencia de mutacao no gene hprt em criancas acidentalmente expostas as radiacoes ionizantes

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

2009-09-01

55

Misfolded Proteins and Retinal Dystrophies

No abstract prepared

1995-09-01

56

MEDICAL FINAL REVIEW MEMORANDUM OF ORIGINAL BLA

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

57

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

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

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

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

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Genomics of human longevity

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

60

Embryonic Senescence and Laminopathies in a Progeroid Zebrafish Model

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

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Detection of genetic mutations in repetitive DNA sequences in somatic human cells after low-dose irradiation

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

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Defective gut function in drop-dead mutant Drosophila

... 3-89701-147-6 0949-2224 245 p. animal cells dna genetic radiation effects

1998-03-01

63

Cis-regulatory mutations in human disease

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

64

Abnormal chromosome repair and risk of developing cancer.

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

65

AEC syndrome - Genetics Home Reference

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

66

A child with hyperferritinemia: Case report

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

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

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

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Prostaglandin E₂ Signals Through PTGER2 to Regulate Sclerostin Expression

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

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

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

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

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

71

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

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 dimerization domain of the GH receptor. One of ...

1994-09-01

72

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

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

73

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

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

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

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

75

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

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 ...

76

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

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.

77

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

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

78

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

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

79

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

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

80

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

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

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81

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

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

82

Towards a more functional concept of causality in cancer research

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

83

Staging procedures in mycosis fungoides.

Advances in molecular technologies challenge the different concepts of causality in biology, epidemiology and multistage mathematical models. The lack of integration of the different aspects of causality...Full Text Available

84

Oxidative Stress Disrupts Oligodendrocyte Maturation

Mycosis fungoides (MF) in deep-seated lymph nodes, spleen or liver appears to be associated with a lack of response of the disease to topical external therapy. Fourteen patients with mycosis fungoides...Full Text Available

1975-03-01

85

Periventricular white matter injury (PWMI), is the leading cause of chronic neurologic injury among survivors of preterm birth. The hallmark of PWMI is hypomyelination and a lack of mature,...Full Text Available

2009-11-01

86

Orphan GPCR research

Medical problems affecting musicians.

Orphan G protein-coupled receptors (GPCRs) are receptors lacking endogenous ligands. Found by molecular biological analyses, they became the roots of reverse pharmacology, in which receptors are attempted...Full Text Available

2008-03-01

87

Management of primary sclerosing cholangitis

The physical demands of performing on musical instruments can cause pain, sensory loss, and lack of coordination. Five cases illustrate common problems. Knowledge of the interaction between the technique...Full Text Available

1995-12-01

88

Female urethral syndrome. A female prostatitis?

Primary sclerosing cholangitis (PSC) is a rare cholestatic liver disease with major morbidity and mortality. Therapeutic management is difficult, due to lack of conclusive data and individual disease...Full Text Available

2011-06-27

89

Cold: Physiology, Protection and Survival

The cause of the female urethral syndrome has previously been obscure, as it has been associated by definition with a lack of objective findings but a plethora of subjective complaints of retropubic...Full Text Available

1996-05-01

90

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

... is reduced: 1) by lack of oxygen, 2) in hypercapnia associated with closed rooms or tents, 3) by use of sleeping drugs, antipyretics, insulin, and 4 ...

1974-08-01

91

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

92

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

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

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

93

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

94

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

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

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

95

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

96

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

97

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

aHUS caused by complement dysregulation: new therapies on the horizon

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

98

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

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

99

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

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

100

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

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

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101

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

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

102

The mitochondrial p53 pathway

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

103

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

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

104

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

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

105

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

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

106

Technical approaches for mouse models of human disease

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

107

Targeting the p53 Pathway in Ewing Sarcoma

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

108

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

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

109

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

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

110

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

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

111

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

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

112

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

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

113

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

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

114

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

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

115

Radiation-induced mutations at mouse hemoglobin loci

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

116

Pten Knockdown in vivo Increases Excitatory Drive onto Dentate Granule Cells

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 ...

117

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

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

118

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

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

119

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

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

120

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

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

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121

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

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

122

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

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

123

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

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

124

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

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

125

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

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

126

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

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

127

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

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

128

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

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

129

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

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

130

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

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

131

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

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

132

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

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

133

Inferring Stabilizing Mutations from Protein Phylogenies: Application to Influenza Hemagglutinin

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

134

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

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

135

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

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

136

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

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

137

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

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

138

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

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

139

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

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

140

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

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

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141

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

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

142

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

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

143

Gene Therapy in the Retinal Degeneration Slow Model of Retinitis Pigmentosa

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

144

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

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

145

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

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

146

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

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

147

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

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

148

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

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

149

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

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

150

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

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

151

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

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

152

Developmental abnormalities and epimutations associated with DNA hypomethylation mutations.

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

153

Detection of genetic mutations in repetitive DNA sequences in somatic human cells after low-dose irradiation; Nachweis genetischer Veraenderungen in repetitiven DNA-Sequenzen in somatischen menschlichen Zellen nach Bestrahlung im niedrigen Dosisbereich

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

154

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

No abstract prepared

1998-03-01

155

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

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

156

Congenital woolly hair without P2RY5 mutation

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

157

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

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

158

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

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

159

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

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

160

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

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

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161

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

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

162

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

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

163

Antagonistic crosstalk between APC and HIF-1?

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

164

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

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

165

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

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

166

Air pollution induces heritable DNA mutations

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

167

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

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

168

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

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

169

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

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

170

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

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

171

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

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

172

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

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

173

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

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

174

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

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

HupUV proteins of Rhodobacter capsulatus can bind H2: evidence from the H-D exchange reaction.

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

176

Three novel mutations responsible for Cockayne syndrome group A

The H-D exchange reaction has been measured with the D2-H2O system, for Rhodobacter capsulatus JP91, which lacks the hupSL-encoded hydrogenase, and R. capsulatus BSE16, which lacks the HupUV proteins....Full Text Available

1997-01-01

177

Linkage analysis in familial Angelman syndrome

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

178

Short-term synaptic plasticity in the auditory brain stem by using in-vivo-like stimulation parameters

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

179

British Library Electronic Table of Contents (United Kingdom)

Reduced systems such as brain slices offer a powerful approach to study the physiology of auditory neurons in great detail. However, when studying auditory nuclei in reduced systems such as brain slices, especially highly active auditory brain stem nuclei, one has to be aware that the unphysiological lack of activity in the reduced system compared to the in-vivo situation has a number of important effects on the neurons under investigation, and thus on the data that are measured. Most importantly, the lack of chronic activity in the slice preparation has important effects on the properties of short-term plasticity of the synapses. The main purpose of this article is to discuss how spontaneous activity in auditory neurons, or the lack thereof, can affect the data measured.

2011-01-01

180

Research work on mutation breeding in Egypt during the 1980s

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

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

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

181

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

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

182

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.

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

183

Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis

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

184

The urine dipstick test useful to rule out infections. A meta-analysis of the accuracy

Thoracic aortic aneurysms (TAAs) are potentially devastating, and due to their asymptomatic behavior, pose a serious health risk characterized by the lack of medical treatment options and high...Full Text Available

2009-01-01

185

The treatment of mycosis fungoides and related conditions with particular emphasis on electron therapy.

BackgroundMany studies have evaluated the accuracy of dipstick tests as rapid detectors of bacteriuria and urinary tract infections (UTI). The lack of an adequate explanation for...Full Text Available

186

The ten questions screen for childhood disabilities: its uses and limitations in Pakistan.

The difficulties created by the lack of generally accepted views on classification, diagnostic criteria and natural history of the cutaneous lymphomata are discussed. Only the lymphomata which remain...Full Text Available

1975-03-01

187

Survival of Genetically Modified and Self-Cloned Strains of Commercial Baker's Yeast in Simulated Natural Environments: Environmental Risk Assessment

OBJECTIVE--To assess the accuracy of the ten questions screen as a measure of childhood disability for epidemiologic studies in populations lacking resources for professional assessment of children's...Full Text Available

1995-08-01

188

Stem Cell Therapies Benefit Alport Syndrome

Although genetic engineering techniques for baker's yeast might improve the yeast's fermentation characteristics, the lack of scientific data on the survival of such strains in natural environments...Full Text Available

2005-11-01

189

Soybean Mutants Lacking Constitutive Nitrate Reductase Activity 1

Patients with Alport syndrome progressively lose renal function as a result of defective type IV collagen in their glomerular basement membrane. In mice lacking the α3 chain of type IV collagen...Full Text Available

2009-11-01

190

Socio-demographic disparity in oral health among the poor: a cross sectional study of early adolescents in Kilwa district, Tanzania

The objectives of this study were to select and initially characterize mutants of soybean (Glycine max L. Merr. cv Williams) with decreased ability to reduce nitrate. Selection involved...Full Text Available

1983-06-01

191

Probiotic treatment of irritable bowel syndrome in children

BackgroundThere is a lack of studies considering social disparity in oral health emanating from adolescents in low-income countries. This study aimed to assess socio-demographic...Full Text Available

192

Population morbidity screening--practical methodology for small populations.

Treatment of functional bowel disorders of irritable bowel-type (IBS) in children remains a difficult task because of a lack of drugs with low adverse event profile. We here report the results of a...Full Text Available

193

Phenotypic and functional immaturity of human umbilical cord blood T lymphocytes.

During a study of the health status of children in rural Nigerian communities a gross lack of fit was observed between the sample and the growth attainment standards derived from local longitudinal...Full Text Available

1984-07-01

194

Ovarian cancer mouse models: a summary of current models and their limitations

Successful implementation of bone marrow transplantation for hematopoietic reconstitution is limited by the lack of suitably HLA-matched donors and by the occurrence of graft-versus-host disease that...Full Text Available

1992-11-01

195

O2-dependent methionine auxotrophy in Cu,Zn superoxide dismutase-deficient mutants of Saccharomyces cerevisiae.

Development of mouse models representing human spontaneous ovarian cancer has been hampered by the lack of understanding of the etiology of this very complex disease. Mouse models representing the different...Full Text Available

196

Novel therapies for resistant focal segmental glomerulosclerosis (FONT) phase II clinical trial: study design

Mutant strains of the yeast Saccharomyces cerevisiae which lack functional Cu,Zn superoxide dismutase (SOD-1) do not grow aerobically unless supplemented with methionine. The molecular basis of this...Full Text Available

1990-04-01

197

Neurosarcoidosis--demonstration of meningeal disease by gadolinium enhanced magnetic resonance imaging.

BackgroundThe lack of adequate randomized clinical trials (RCT) has hindered identification of new therapies that are safe and effective for patients with primary focal segmental...Full Text Available

198

Myofibrillogenesis in the developing zebrafish heart: A functional study of tnnt2

Arriving at a firm diagnosis of neurosarcoidosis continues to pose serious problems, particularly when evidence of granulomatous disease outside the nervous system is lacking. The commonest mode of...Full Text Available

1991-06-01

199

Mesencephalic and third ventricle cysts: diagnosis and management in four cases.

Various hypotheses have been proposed to explain the molecule processes of sarcomere assembly, partially due to the lack of systematic genetic studies of sarcomeric genes in an in vivo...Full Text Available

2009-07-15

200

Mechanistic fracture criteria for the failure of human cortical bone

Four infants with obstructive hydrocephalus caused by space occupying third ventricle and mesencephalic cysts are reported. Despite immediate shunt insertion in all patients, there was either lack of...Full Text Available

1994-10-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

201

Long-lived states to sustain hyperpolarized magnetization

A mechanistic understanding of fracture in human bone is critical to predicting fracture risk associated with age and disease. Despite extensive work, a mechanistic framework for describing how the underlying microstructure affects the failure mode in bone is lacking.

2002-12-13

202

Lessons drawn from the accidents occurred in the framework of conventional external radiotherapy;Lecons tirees des accidents survenus dans le cadre de la radiotherapie externe conventionnelle

Major breakthroughs have recently been reported that can help overcome two inherent drawbacks of NMR: the lack of sensitivity and the limited memory of longitudinal magnetization. Dynamic nuclear polarization...Full Text Available

2009-11-03

203

Lack of impact of intravenous lidocaine on analgesia, functional recovery, and nociceptive pain threshold after total hip arthroplasty

This study examines some radiation accidents occurred in the past. This information has been systematically assessed to get global lessons. The experience feedback shows that the most of accidents happened in certain conditions. These conditions can be distributed in four categories: 1- perception and vigilance in occupation: accidental exposure happened by lack of vigilance in details and lack of vigilance and perception; 2- procedures: accidental exposure happened following a lack of procedures or control that were not enough complete, not enough documented or not completely implemented; 3- training and understanding: accidental exposures happened because the personnel was not enough qualified and educated, did not get the general training nor the the necessary specialized training; 4- liabilities: accidental exposures happened following lacks and ambiguity in the definition of functions of the ...

2009-12-15

204

Lack of association between dietary fructose and hyperuricemia risk in adults

BackgroundThe analgesic effect of perioperative low doses intravenous lidocaine has been demonstrated after abdominal surgery. This study aimed to evaluate whether...Full Text Available

2008-07-01

205

Lack of adequate sun protection for children with oculocutaneous albinism in South Africa

BackgroundHigh serum uric acid concentration (hyperuricemia) has been studied for its relationship with multiple adverse health outcomes, such as metabolic syndrome. Intervention...Full Text Available

206

Lack of Osteoradionecrosis of the Mandible after IMRT for Head and Neck Cancer: Likely Contributions of both Dental Care and Improved Dose Distributions

BackgroundChildhood is a high risk time for ultraviolet induced skin damage as this age group has more time and opportunity to be outdoors in the sun. Children in Africa with the...Full Text Available

207

Lack of LDL Receptor Enhances Amyloid Deposition and Decreases Glial Response in an Alzheimer's Disease Mouse Model

PurposeTo assess the prevalence and the dosimetric and clinical predictors of mandibular osteoradionecrosis (ORN) in patients with head and neck (HN) cancer who underwent...Full Text Available

2007-06-01

208

Lack of Influence of Phytochrome on Membrane Permeability to Tritiated Water ¹

BackgroundApolipoprotein E (ApoE), a cholesterol carrier associated with atherosclerosis, is a major risk factor for Alzheimer's disease (AD). The low-density lipoprotein receptor...Full Text Available

209

Lack of Association Between Prokineticin 2 Gene and Japanese Methamphetamine Dependence

The water permeability of tissues was investigated by measuring the efflux of ³HHO from previously loaded (in darkness) etiolated bean buds (Phaseolus vulgaris L. var. Red...Full Text Available

1976-02-01

210

Immortalizing the Complexity of Cancer Metastasis Genetic Features of Lethal Metastatic Pancreatic Cancer Obtained from Rapid Autopsy

Disruption of circadian rhythms may be involved in the pathophysiology of psychiatric disorders, including drug addiction. Recently, we detected the significant association between prokineticin 2 receptor...Full Text Available

2011-03-01

211

Human Lymphatic Architecture and Dynamic Transport Imaged Using Near-infrared Fluorescence12

The virtual lack of well-characterized metastatic pancreatic cancer tissues for study has limited systematic studies of the metastatic process of this deadly disease. To address this important...Full Text Available

2005-05-01

212

Ghosts of Yellowstone: Multi-Decadal Histories of Wildlife Populations Captured by Bones on a Modern Landscape

BACKGROUND: Although the importance of lymphatic function is well recognized, the lack of real-time imaging modalities limits our understanding of its role in many diseases. In a phase...Full Text Available

213

Genetic Heterogeneity in Severe Congenital Neutropenia: How Many Aberrant Pathways Can Kill a Neutrophil?

Natural accumulations of skeletal material (death assemblages) have the potential to provide historical data on species diversity and population structure for regions lacking decades of wildlife monitoring,...Full Text Available

214

General lack of global dosage compensation in ZZ/ZW systems? Broadening the perspective with RNA-seq

Purpose of reviewSevere congenital neutropenia (SCN) is a primary immunodeficiency in which lack of neutrophils causes inadequate innate immune host response to bacterial...Full Text Available

2007-12-01

215

Evidence for a lack of DNA double-strand break repair in human cells exposed to very low x-ray doses

BackgroundSpecies with heteromorphic sex chromosomes face the challenge of large-scale imbalance in gene dose. Microarray-based studies in several independent male heterogametic...Full Text Available

216

Effects of DGAT1 deficiency on energy and glucose metabolism are independent of adiponectin

DNA double-strand breaks (DSBs) are generally accepted to be the most biologically significant lesion by which ionizing radiation causes cancer and hereditary disease. However, no information on the...Full Text Available

2003-04-29

217

Effective audit trails--a taxonomy for determination of information requirements.

Mice lacking acyl-CoA:diacylglycerol acyltransferase 1 (DGAT1), an enzyme that catalyzes the terminal step in triacylglycerol synthesis, have enhanced insulin sensitivity and are protected from...Full Text Available

2006-08-01

218

Effect of orientation on the in vitro fracture toughness ofdentin: The role of toughening mechanisms

Current methods of detecting confidentiality breaches in electronic medical record systems are inadequate, partially due to the lack of necessary information at the point of audit trail analysis. In...Full Text Available

1999-01-01

219

Cytokinin-Deficient Transgenic Arabidopsis Plants Show Multiple Developmental Alterations Indicating Opposite Functions of Cytokinins in the Regulation of Shoot and Root Meristem Activity

A micro-mechanistic understanding of bone fracture thatencompasses how cracks interact with the underlying microstructure anddefines their local failure mode is lacking, despite extensive research nthe response of bone to a variety of factors like aging, loading, and/ordisease.

2003-01-28

220

Chondrogenic differentiation potential of osteoarthritic chondrocytes and their possible use in matrix-associated autologous chondrocyte transplantation

Cytokinins are hormones that regulate cell division and development. As a result of a lack of specific mutants and biochemical tools, it has not been possible to study the consequences of cytokinin...Full Text Available

2003-11-01

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221

Biochemical Characterization of Soybean Mutants Lacking Constitutive NADH:Nitrate Reductase ¹

IntroductionAutologous chondrocyte transplantation (ACT) is a routine technique to regenerate focal cartilage lesions. However, patients with osteoarthritis (OA) are lacking an appropriate...Full Text Available

2009-01-01

222

Asking the right questions: Scoping studies in the commissioning of research on the organisation and delivery of health services

Two nitrate reductase (NR) mutants were selected for low nitrate reductase (LNR) activity by in vivo NR microassays of M₂ seedlings derived from nitrosomethylurea-mutagenized...Full Text Available

1986-06-01

223

Applying Direct Observation to Model Workflow and Assess Adoption

Scoping studies have been used across a range of disciplines for a wide variety of purposes. However, their value is increasingly limited by a lack of definition and clarity of purpose. The UK's Service...Full Text Available

224

Analysis of non-TIR NBS-LRR resistance gene analogs in Musa acuminata Colla: Isolation, RFLP marker development, and physical mapping

Lack of understanding about workflow can impair health IT system adoption. Observational techniques can provide valuable information about clinical workflow. A pilot study using direct observation was...Full Text Available

2006-01-01

225

Advanced MRI Methods for Assessment of Chronic Liver Disease

BackgroundMany commercial banana varieties lack sources of resistance to pests and diseases, as a consequence of sterility and narrow genetic background. Fertile wild relatives,...Full Text Available

226

A decision-analytic approach to define poor prognosis patients: a case study for non-seminomatous germ cell cancer patients

MRI plays an increasingly important role for assessment of patients with chronic liver disease. MRI has numerous advantages, including lack of ionizing radiation and the possibility of performing...Full Text Available

2009-07-01

227

A Systematic Assessment of MHC Class II Peptide Binding Predictions and Evaluation of a Consensus Approach

BackgroundClassification systems may be useful to direct more aggressive treatment to cancer patients with a relatively poor prognosis. The definition of 'poor prognosis' often lacks...Full Text Available

228

Homology among tet determinants in conjugative elements of streptococci

The identification of MHC class II restricted peptide epitopes is an important goal in immunological research. A number of computational tools have been developed for this purpose, but there is a lack...Full Text Available

2008-04-01

229

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

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

230

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

231

[Fritz hauschild (1908-1974) and drug research in the 'German Democratic Republic' (GDR)].

Lack of oscillations in Dual-Phase-Lagging heat conduction for a porous slab subject to imposed heat flux and temperature

The chemist and pharmacologist Fritz Hauschild developed the sympathomimetic agent Pervitin (metamphetamin) in the 1930s. Not only because of the abuse of the stimulant during the Second World War ("pilot's chocolate") it is one of the most controversial substances in drug history. Nearly forgotten are Hauschild's contributions to build up the drug system in the GDR. Although he was a convinced communist, the skilful pharmacologist gave very early warning of the imminent lack of innovation in the GDR pharmaceutical industry. A letter which he addressed to the Minister of Health, Max Sefrin (born 1913), did not lack explicitness. PMID:15997840

2005-06-01

232

Lack of awareness of symptoms in people with dementia: the structural and functional basis

This study shows that the physical conditions necessary for thermal waves to materialize in Dual-Phase-Lagging porous media conduction are not attainable in a porous slab subject to a combination of constant heat flux and temperature (Neumann and Dirichlet) boundary conditions. It is demonstrated that the approximate equivalence between Dual-Phase-Lagging (DuPhlag) heat conduction model and the Fourier heat conduction in porous media subject to Lack of Local Thermal Equilibrium (La Lotheq) that suggested the possibility of thermal oscillations and resonance reveals a condition that cannot be fulfilled because of physical constraints. (author)

2005-07-01

233

British Library Electronic Table of Contents (United Kingdom)

AbstractObjective To review studies investigating the brain correlates of unawareness of cognitive and behavioural symptoms in people with dementia. Design A detailed search of the literature was conducted to include all the peer-reviewed studies published in English aimed at identifying the structural or functional brain correspondents of unawareness in dementia patients. Their results were interpreted in relation to the methodological differences in terms of type of dementia studied, the protocol adopted to measure lack of awareness, the imaging techniques employed, the experimental designs and statistical analyses performed. Results Eighteen studies undertaken to explore the functional and structural correlates of unawareness of cognitive symptoms in dementia were identified. Although t...

2011-01-01

234

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

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

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

235

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

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

236

Studies of human mutation rates

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

237

Somatic mutations detected by immunofluorescence and flow cytometry

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

238

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

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).

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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

240

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

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

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 RecA-promoted cleavage of the ...

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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

242

Improving protein quality of soybean through induced mutations

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

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

243

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

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

244

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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

245

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

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

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.

246

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

247

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

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.

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

248

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.

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

249

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

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

250

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

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

251

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

252

ORNL `90

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

253

ORNL '90

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

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

254

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

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

255

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

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

256

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

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

257

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.

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

258

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

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

259

Mechanism of radiation induced carcinogenesis: does a threshold exist?

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

260

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

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

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261

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

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

262

Induced mutation in Lupinus mutabilis sweet in Peru

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

263

High yielding mutants in sesamum

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

264

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

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).

265

Genetic and somatic effects in animals maintained on tritiated water

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

266

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

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

267

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

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

268

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

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

269

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

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

270

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

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.

271

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

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

272

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

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

273

Development of radiological emergency preparedness technology

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

274

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

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

275

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

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

276

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

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

277

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

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

278

The experience of obsolete item identification and solution in CANDU NPPs

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

279

The Relevance of Art Education and the Education of the Nigerian Child: Implications for the Universal Basic Education Policy

Design and procurement of equipment for nuclear power plant took place in late 1970's. A large number of originally installed equipment is obsolete. The manufacturer's do not support their products or have discontinued their production due to technological evolutions or lack of product demand. Lack of spares affects the performance of obsolete equipment and has a negative impact on plant safety and plant production. A proactive approach to address obsolescence is necessary to ensure critical spares are always available when needed. This is an ongoing effort and requires a program to be in place to resolve immediate and longterm issues. A cross-functional team with adequate external exposure is needed to administer the obsolescence program. CANDU utilities and CANDU Owners Group(COG) has taken initiatives to identify lack of equipment spares in the members' plant. The equipment replacement information collected from each ...

2010-10-01

280

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

This article examines relevant government policy documents on education and culture and discovers that Nigerian education authorities do not "discriminate" against art and culture in its articulation of educational policies per se, but lack of administrative machinery or political will has resulted in the deprivation of the Nigerian child in the process of creative activity in early childhood development. The article argues that lack of creative ability in our educational products is perhaps a major setback in the nation's quest for industrial and technological development. In this article a new art curriculum for elementary schools is advocated as a means of engaging the young child in order to attain functional educational skills necessary in the world of work.

2008-10-01

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281

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

282

Digitization of past question papers, dissertations and theses: A case study of 30 Nigerian university libraries

British Library Electronic Table of Contents (United Kingdom)

SummaryThis paper evaluates the status of digitization in 30 Nigerian university libraries with a view to identifying the status, progress, prospects and challenges to digitize library materials and form the basis of providing a roadmap to successful execution of digitization projects. The study assessed the status of digitization of past question papers, theses and dissertations in Nigerian university libraries from May to September 2006 through a self-administered questionnaire, site visits and interviews. It was found that, though there are automation services in those universities, there is no digitization of these materials mentioned in the surveyed institutions. The major obstacles militating against digitizing in the university libraries include lack of funds, lack of appropriate fa...

2007-01-01

283

Die Umsetzung von Studienergebnissen in die klinische Praxis - Beispiel Kardiologie

British Library Electronic Table of Contents (United Kingdom)

Summary A prospective and randomized trial design is of utmost interest when it comes to evaluating new developments in the management of cardiovascular medicine. By defining the primary end point and a profound related statistic new therapeutic options can be tested with an adequate number of patients. The course of the trial is supervised by a Clinical Events Committee and a Data and Safety Monitoring Board. Registries are promising tools for describing how the results of clinical trials are translated into daily practice. Their drawbacks include lack of control of the clinical endpoints and their uniform definition and lack of a control group. There are numerous examples from cardiology of the limited usefulness of data obtained from registry studies with their often unexpected results ...

2009-01-01

284

A refined lack-of-fit statistic to calibrate pesticide fate models for responsive systems

British Library Electronic Table of Contents (United Kingdom)

BACKGROUND: Calibration by inverse modelling was performed with the MACRO transport and fate model using long-term (>10 years) drainflow and isoproturon (IPU) data from western France. Two lack-of-fit (LOF) indices were used to control the inverse modelling: sum of squares (SS) and an alternative statistic called the vertical-horizontal distance integrator (VHDI), which is designed to account for offsets in observed and predicted arrival times of peak IPU concentration. With these data, SS was artificially inflated because it is limited to comparison of predicted and observed IPU concentrations that are concurrent in time. The LOFs were used along with the index of agreement (d) and the correlation coefficient (r) to ascertain the fit of the calibrated models. RESULTS: Predicted arrival ti...

2009-01-01

285

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

286

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

287

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

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

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

288

Improvement of banana through biotechnology and mutation breeding

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

289

Development of radiological emergency preparedness and biological dosimetry technology

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

290

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

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

291

Characterization of the heterokaryotic and vegetative diploid phases of Magnaporthe grisea

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

292

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

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

293

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

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

294

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

295

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

Inborn Errors of Metabolism Presenting in Childhood

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.

296

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

297

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

Turgor Regulation in Osmotically Stressed Arabidopsis Epidermal Root Cells. Direct Support for the Role of Inorganic Ion Uptake as Revealed by Concurrent Flux and Cell Turgor Measurements1

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

298

TWENTE Study: The Real-World Endeavor Resolute Versus Xience V Drug-Eluting Stent Study in Twente: study design, rationale and objectives

Hyperosmotic stress is known to significantly enhance net uptake of inorganic ions into plant cells. Direct evidence for cell turgor recovery via such a mechanism, however, is still lacking. In the...Full Text Available

2002-05-01

299

Sensing the physical and nutritional status of the root growth environment

Background. New-generation drug-eluting stents (DES) may solve several problems encountered with first-generation DES, but there is a lack of prospective head-to-head comparisons between...Full Text Available

2010-08-01

300

RecA protein acts at the initiation of stable DNA replication in rnh mutants of Escherichia coli K-12.

DescriptionAbstract of Research Proposal The root environment has a major effect on crop growth, both directly through the supply of water and nutrients to the shoot, and indirectly through root to shoot signalling. Better management of crop root systems through agronomic and genetic means has the potential to improve the efficiency of water and nutrient uptake, and limit root restrictions to crop growth. However, progress in this area is currently limited by the lack of sensors for in situ estimates of [continued...

2004-01-30

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

301

Overview of cleaner production as a result of clean technology research in Vietnam

Escherichia coli rnh mutants lacking RNase H activity are capable of recA+-dependent DNA replication in the absence of concomitant protein synthesis (stable DNA replication). In rnh dnaA::Tn10 and rnh...Full Text Available

1985-08-01

302

Osteonecrosis in patients receiving dialysis: report of two cases and review of the literature.

Vietnam is beginning its industrialization process, and it currently lacks the capital necessary for expensive pollution control and treatment systems. Pollution strategies are critical for the country. This study evaluates the present status of industry and the pollution problems associated with industrial development in Vietnam. The purpose of the study is to identify sectors that may have potential for promoting cleaner production practices. 4 refs.

1996-12-31

303

New mechanism for methicillin resistance in Staphylococcus aureus: clinical isolates that lack the PBP 2a gene and contain normal penicillin-binding proteins with modified penicillin-binding capacity.

Two patients receiving maintenance dialysis therapy developed osteonecrosis, the first in the humeral head and the second in the talus. Both patients lacked known risk factors for developing osteonecrosis. A possible pathogenic role of secondary hyperparathyroidism in this disorder is suggested. Rheumatologists evaluating patients receiving maintenance dialysis with rheumatic manifestations should be aware of this potential complication. PMID:2185360

1990-03-01

304

Lack of the Long Pentraxin PTX3 Promotes Autoimmune Lung Disease but not Glomerulonephritis in Murine Systemic Lupus Erythematosus

Seventeen clinical isolates of Staphylococcus aureus (from the United States and Europe) selected for low (borderline)-level methicillin resistance (MIC of methicillin, 2 to 4 micrograms/ml; MIC of...Full Text Available

1989-11-01

305

Lack of formic acid production in rat hepatocytes and human renal proximal tubule cells exposed to chloral hydrate or trichloroacetic acid

The long pentraxin PTX3 has multiple roles in innate immunity. For example, PTX3 regulates C1q binding to pathogens and dead cells and regulates their uptake by phagocytes. It also inhibits P-selectin-mediated...Full Text Available

306

Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy(SUDEP)

The industrial solvent trichloroethylene (TCE) and its major metabolites have been shown to cause formic aciduria in male rats. We have examined whether chloral hydrate (CH) and trichloroacetic...Full Text Available

2007-02-12

307

Industrial waste and pollution in Mongolia

Mice lacking Kv1.1 Shaker-like potassium channels encoded by the Kcna1 gene exhibit severe seizures and die prematurely. The channel is widely expressed in...Full Text Available

2010-04-14

308

Ewald sphere correction for single-particle electron microscopy

This paper very briefly outlines hazardous waste management issues, including regulations, in Mongolia. Air, water, and soil pollutants are identified and placed in context with climatic, social, and economic circumstances. The primary need identified is technology for the collection and disposal of solid wastes. Municipal waste problems include rapid urbanization and lack of sanitary landfills. Industrial wastes of concern are identified from the mining and leather industries. 4 refs., 2 tabs.

1996-12-31

309

Disability and health-related rehabilitation in international disaster relief

Most algorithms for three-dimensional (3D) reconstruction from electron micrographs assume that images correspond to projections of the 3D structure. This approximation limits the attainable resolution of the reconstruction when the dimensions of the structure exceed the depth of field of the microscope. We have developed two methods to calculate a reconstruction that corrects for the depth of field. Either method applied to synthetic data representing a large virus yields a higher resolution reconstruction than a method lacking this correction.

2006-03-15

310

Developing geothermal heat pump demonstration projects

BackgroundNatural disasters result in significant numbers of disabling impairments. Paradoxically, however, the traditional health system response to natural disasters largely neglects health-related rehabilitation as a strategic intervention.ObjectivesTo examine the role of health-related rehabilitation in natural disaster relief along three lines of inquiry: (1) epidemiology of injury and disability, (2) impact on health and rehabilitation systems, and (3) the assessment and measurement of disability.DesignQualitative literature review and secondary data analysis.ResultsAbsolute numbers of injuries as well as injury to death ratios in natural disasters have increased significantly over the last 40 years. Major impairments requiring health-related rehabilitation include amputations, traumatic brain injuries, spinal cord injuries (SCI), and long bone fractures. Studies show that persons with pre-existing disabilities are more likely to die in a natural disaster. ...

2011-08-16

311

Conscience de Soi, maintien du Soi et identite humaine au cours de la maladie d'Alzheimer

The Sacramento Municipal Utility District is developing a number of demonstration projects using geothermal heat pumps. This paper discusses some of the barriers and issues that have emerged over the past two years. The most important barriers are: regulatory impediments; high first cost; and a lack of local design and installation infrastructure.

1995-12-31

312

British Library Electronic Table of Contents (United Kingdom)

Identity is a part of self-consciousness, which is also expressed as ''being in the world'' which one in turn shows to others as the Self. The assessment of the Self in a population of patients with Alzheimer's disease, according to a multidimensional definition (physical, social, spiritual), showed that the social self was impaired, and the severity of impairment of the self was correlated to apathy and lack of semantic autobiographical memory. It also appears that ipseity is selectively affected by the disease.

2011-01-01

313

CMV Seropositivity Determines Epoetin Dose and Hemoglobin Levels in Patients with CKD

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

Cytomegalovirus (CMV)-seropositive patients with ESRD may have more CD4⁺ T cells lacking the co-stimulatory molecule CD28 (CD4⁺CD28null) than CMV-seronegative patients. Increased...Full Text Available

2009-12-01

314

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

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

315

Apoptotic pathways as regulators of recombination

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

316

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

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

317

Real-time management of water quality in the San Joaquin River Basin, California.

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

318

Radiolabelled D_2 agonists as prolactinoma imaging agents: Progress report for period February 1, 1988--January 31, 1989

In the San Joaquin River Basin, California, a realtime water quality forecasting model was developed to help improve the management of saline agricultural and wetland drainage to meet water quality objectives. Predicted salt loads from the water quality forecasting model, SJRIODAY, were consistently within +- 11 percent of actual, within +- 14 percent for seven-day forecasts, and with in +- 26 percent for 14-day forecasts for the 16-month trial period. When the 48 days dominated by rainfall/runoff events were eliminated from the data set, the error bar decreased to +- 9 percent for the model and +- 11 percent and +- 17 percent for the seven-day and 14-day forecasts, respectively. Constraints on the use of the model for salinity management on the San Joaquin River include the number of entities that control or influence water quality and the lack of a centralized authority to direct their activities. The lack of real-time monitoring sensors for ...

1997-09-01

319

Radiolabelled D/sub 2/ agonists as prolactinoma imaging agents: Progress report for period February 1, 1988--January 31, 1989

Targeted studies completed include the evaluation of tritiated N-0437, evaluation of "3"5S-cysteamine, evaluation of "1"8F-FDG and initiation of synthetic efforts towards the synthesis of iodinated N-0437 and pergolide analogs. The direction of the project has been changed due to several factors which include the decided lack of favorable experimental results, the excellence of results using muscarinic receptor ligands in pituitary, brain and heart and the contention of the DOE review panel that the original grant proposal was based on flawed assumptions together with their perceived lack of importance to pituitary imaging. In the final year of this grant, three studies will be completed. The first study is the continuation of synthetic efforts to prepare iodinated N-0437 and pergolide analogs for possible use as brain imaging agents. The second study is directed towards completion of biochemical evaluation of various muscarinic receptor ...

320

Perceptions of Library Staff Regarding Challenges of Developing Digital Libraries: The Case of an Iranian University

Targeted studies completed include the evaluation of tritiated N-0437, evaluation of /sup 35/S-cysteamine, evaluation of /sup 18/F-FDG and initiation of synthetic efforts towards the synthesis of iodinated N-0437 and pergolide analogs. The direction of the project has been changed due to several factors which include the decided lack of favorable experimental results, the excellence of results using muscarinic receptor ligands in pituitary, brain and heart and the contention of the DOE review panel that the original grant proposal was based on flawed assumptions together with their perceived lack of importance to pituitary imaging. In the final year of this grant, three studies will be completed. The first study is the continuation of synthetic efforts to prepare iodinated N-0437 and pergolide analogs for possible use as brain imaging agents. The second study is directed towards completion of biochemical evaluation of various muscarinic ...

1988-10-15

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

321

MicroDiffraction in the Scanning Electron Microscope (SEM)

Purpose: The present research aims to identify the difficulties and obstacles for developing digital libraries in the seven regional branches of Islamic Azad University (IAU), Iran, and to study the status of librarians' skills and education programmes at these institutions. Design/methodology/approach: The 40 individuals working in the regional branch libraries of IAU were surveyed by a questionnaire consisting of 34 questions, and the collected data were analysed using SPSS software (version 16). Findings: It was found that the most important difficulties are the lack of suitable equipment and untrained personnel (i.e. a lack of sufficient training programmes). Research limitations/implications: Because of the small number of participants, it is suggested that a larger scale study is carried out. It is also proposed that the suggestions made by the participants will be considered and implemented, based on the digital library (DL) developments ...

2010-12-01

322

In the Loop : A look at Manitoba's geothermal heat pump industry

The identification of crystallographic phases in the scanning electron microscope (SEM) has been limited by the lack of a simple way to obtain electron diffraction data of an unknown while observing the micro structure of the specimen. With the development of Charge Coupled Device (CCD) based detectors, backscattered electron Kikuchi patterns (BEKP), alternately referred to as electron backscattered diffraction patterns (EBSP), can be easily collected. Previously, BEKP has been limited to crystallographic orientation studies due to the poor pattern quality collected with video rate detector systems. With CCD detectors, a typical BEKP can now be acquired from a micron or sub-micron-sized crystal using an exposure time of 1-10 seconds with an accelerating voltage of 10-40 kV and a beam current as low as 0.1 nA. Crystallographic phase analysis using BEKP is unique in that the properly equipped SEM permits high magnification images, BEKP`s, and elemental information to ...

1997-12-31

323

Canadian upstream oil and gas industry fire and explosion incident analysis based on the investigative work of the IRP18 Committee working with the University of Calgary Department of Chemical and Petroleum Engineering. Revision 1

This booklet outlines the position of Manitoba's heat pump market with the objective of promoting the widespread use of geothermal heat pumps in the province. It makes reference to the size of the market, customer satisfaction with heat pumps, and opinion of key players in the industry regarding the heat pump market. The information in this booklet is drawn on market research and lessons learned in Europe and the United States. In October 2001, a group of key stakeholders in Manitoba's heat pump market attended an industry working meeting to address the issues of market barriers, market enablers and market hot buttons. Market barriers include the high cost of geothermal heat pumps, lack of consumer awareness, lack of consistent standards, and public perception that heat pumps are not reliable. Market enablers include the low and stable operating costs of geothermal heat pumps, high level of comfort, high quality and reliability of geothermal ...

324

Agile Energy Systems. Global Lessons from the California Energy Crisis

This report presented an analysis of incidents gathered by the Canadian upstream oil and gas industry committee in relation to explosive atmospheres in wellbores, vessels, tanks, and piping systems. The aim of the report was to develop industry recommended practices for oil and gas industry fires and explosions. Two accident theory models were used to set out the relationships between hazards, defenses, and losses. Three levels of defenses were identified based on organizational, local workplace, and human factors. An organizational responsibility approach was used to examine the activities of key people with the system. Incidents were analyzed based on an expanded fire triangle used to identify fire and explosion hazards. The study showed that the ignition of hydrocarbons into the air was a factor in nearly 50 per cent of the incidents. A lack of understanding of liquid-hydrocarbon properties was demonstrated in incidents involving oxidized hydrocarbons. A ...

2005-05-15

325

The early days of parathyroid surgery.

Due to the recent catastrophic energy system failures in California along with those in the North-Eastern US and Southern Canada, London, and Italy, the time has come to proclaim the failure of deregulation, privatization or liberalization and propose a new energy system. This book shows in the first section, how five precipitating forces led to the deregulation debacle in California: (1) major technological changes and commercialization, (2) regulatory needs mismatched to societal adjustments, (3) inadequate and flawed economic models, (4) lack of vision, goals, and planning leading to energy failures, and (5) failure and lack of economic regional development. The second half of the book, examines how 'civic market', new economic models, and planning for complexity as sustainable economic development transformed in California, the same five forces to create an 'agile energy system' based on renewable energy ...

2004-09-01

326

Study to assess the subjective experience, including pain, of broiler chickens with different gait scores

The parathyroid endocrine glands, usually four in number and about the size of a split pea, lie on either side of the posterior aspect of the thyroid gland. Occasionally one or more of these structures are found in an aberrant position in the neck or even in the superior mediastinum. The parathyroid secretion, parathormone, regulates the level of serum calcium within sharply defined limits. Lack of parathormone, with lowering of the serum calcium, results in hyper-irritability of skeletal muscle, the clinical condition known as tetany. This is encountered following inadvertent removal or bruising of the parathyroid glands at thyroidectomy. PMID:21488463

2011-03-01

327

States Which Are Equivalent To A Depolarized Pure State

DescriptionLameness, commonly referred to as the leg health, in the modern broiler chicken is an emotive issue and the debate surrounding this subject is not helped by the lack of agreement as to how leg health should be assessed. A commonly used tool for scoring leg health is the Bristol Gait Score, a technique used in the recently reported Defra project AW0230 (`Leg Health and Welfare in Commercial Broiler Production`). The authors of the final report for AW0230 noted that for the chickens gait scored [continued...

2011-01-31

328

Prospective, observational study of the depth of anesthesia during oocyte retrieval using a total intravenous anesthetic technique and the Bispectral index monitor

The Schmidt decomposition is an important tool in the study of quantum systems especially for the quantification of the entanglement of pure states. However, the Schmidt decomposition is only unique for bipartite pure states, and {\\it some} multipartite pure states. Here a generalized Schmidt decomposition is given for a class of mixed quantum states. It is shown that it shares some desirable properties with its pure-state counterpart, but lacks some properties which make the pure-state decomposition so important. Experimental methods for the identification of this class of mixed states are provided and some examples are discussed which show the utility of this description.

2007-01-01

329

British Library Electronic Table of Contents (United Kingdom)

Fifty patients scheduled to undergo IVF received a standard anesthetic of fentanyl and propofol for induction, followed by propofol infusion, with Bispectral index values and modified Ramsey sedation scores recorded at 5-minute intervals for the duration of anesthesia care. Moderate sedation was found only transiently during the first 5-10 minutes of the oocyte retrieval, but thereafter the level of sedation increased, with deep sedation and general anesthesia measured in all patients as determined by both the Bispectral index scores and lack of response to painful stimulation.

2011-01-01

330

Principal geological results of petroleum and gas prospecting on Southern Sakhalin

Pregnancy outcome in women with vitiligo

Results are given for deep-level petroleum and gas drilling probes in various coastal zones of Southern Sakhalin covering the Poronai depression and the Aniv Bay trough. The exploratory probes indicate that the Middle Miocence deposits of the Boundary trough contain commercial-size deposits of petroleum, that commercial-size gas deposits are in the upper Myocene deposits of the Aliv Bay trough, and that the upper Cretaceous and Cenozoic deposits of the eastern section of Southern Sakhalin lack folded deformations. 7 references, 2 figures.

1981-01-01

331

British Library Electronic Table of Contents (United Kingdom)

Abstract Background- Vitiligo, characterized by destruction of melanocytes, causes a patchy depigmentation of the skin. It has been hypothesized to have an autoimmune pathogenesis. Autoimmune disorders are more common among women and may be associated with adverse pregnancy outcomes, such as recurrent abortions, intrauterine growth restriction (IUGR), and pre-eclampsia. Objective- The purpose of this study was to investigate whether patients with vitiligo have increased rates of gestational complications. Methods- A retrospective comparative study was undertaken comparing pregnancy complications of patients with and without vitiligo. The population was composed of all singleton deliveries that occurred at the Soroka University Medical Center in Israel during the years 1988-2006. Women lack...

2011-01-01

332

Methodology for the characterization of wooden fuels of the Valle de Aburra metropolitan area, Colombia

Kinetics of the direct electric heating of a stationary bed of activated charcoal

This study illustrates the way to perform protocols, collect samples, and conduct laboratory analyses in order to characterize the physical properties of wood used in the industrial sector of the Valle de Aburra metropalitan area and the gains obtained by characterizing the properties of the most frequently used woods. In this investigation some of the most important sampling parameters are presented, such as taking samples in piles or accumulations of waste, handling of these samples in the laboratory and others of great importance such as the ignition point. the proposed methodology is based upon some of the international astm coal norms, for the similarity it has with wood and for the lack of information on sampling this type in wood

333

Is your andrology service up to scratch?

Direct electric heating by passing an electrical current directly through a bed of adsorbent may prove to be an efficient means of regenerating activated charcoal in continuous and batch adsorption processes. Obvious advantages of this type of regeneration are its almost complete lack of inertia, which makes it possible to reduce the number and dimensions of the adsorbers, and its highly efficient use of energy due to the small number of steps in the conversion of the energy, as well as the reduction of heat losses involved in warming the structure and making up for losses to the surroundings. The authors consider the kinetics of direct electric heating of a stationary bed of activated charcoal not containing adsorbed substances.

1987-08-20

334

British Library Electronic Table of Contents (United Kingdom)

The quality of the end product from andrology services continues to lack consistency and in some cases fails to meet the needs of the end users (patients or clinicians). Results of external quality assessment (EQA) schemes continue to show unacceptably wide variation for the results of a single specimen. Some laboratories are able to show that the results of semen analyses relate to both natural and assisted pregnancy and are therefore useful in the management of the infertile couple, whereas others claim that their value is limited to the identification of severe male factor infertility. With wide variation in standardisation of methodology, levels of staff training and quality assurance, it is entirely understandable that such discrepancies persist. The following article proposes that Qu...

2010-01-01

335

Guidelines for Reporting Reliability and Agreement Studies (GRRAS) were proposed

British Library Electronic Table of Contents (United Kingdom)

Objective: Results of reliability and agreement studies are intended to provide information about the amount of error inherent in any diagnosis, score, or measurement. The level of reliability and agreement among users of scales, instruments, or classifications is widely unknown. Therefore, there is a need for rigorously conducted interrater and intrarater reliability and agreement studies. Information about sample selection, study design, and statistical analysis is often incomplete. Because of inadequate reporting, interpretation and synthesis of study results are often difficult. Widely accepted criteria, standards, or guidelines for reporting reliability and agreement in the health care and medical field are lacking. The objective was to develop guidelines for reporting reliability and...

2011-01-01

336

Estimated values of the genetic and somatic radiation exposure of the Bulgarian population in 1976

Design of a neutron radiography collimator system in a through beam port at the TRIGA reactor

The genetically and leukemia-significant doses (GSD and LSD) were calculated from the average gonad and bone marrow doses caused by the most frequently applied radiopharmaceuticals in Bulgaria in 1976. Because of the lack of information about the age groups of the patients examined assumptions have been made which led to estimated values of 0.97 mrad for GSD and 2.0 mrad for LSD which must be considered as the upper limit of the real GSD and LSD. The influence of the different radiopharmaceuticals on the average radiation exposure of the population is discussed. (author).

1976-01-01

337

Cutaneous leishmaniasis associated with jungle training.

A neutron collimator system is being designed as part of a neutron imaging facility for computed tomography and real-time neutron radiography research at the through beam port of the University of Texas TRIGA reactor. Lack of sufficient information about collimator systems in a through port from the literature necessitated the use of Monte Carlo calculations using the MCNP code 3 to search for optimal design configuration and materials that maximize the thermal neutron intensity at the image plane while minimizing the fast neutrons and gamma radiation.

1996-12-31

338

Conflict among the circuits: who may conduct inspections under the Clean Air Act

In November 1977, 627 soldiers belonging primarily to the First Battalion, 82nd Airborne Division, stationed at Fort Bragg, were sent to the Canal Zone, Panama, for jungle warfare training. A medical surveillance program incorporating pre- and post-evaluations over a 6-month period with dermatologic examinations, questionnaires, and serologic tests was established. Ten cases of cutaneous leishmaniasis (1.6/100 men) were diagnosed by positive Leishmania culture. The demonstrated lack of sensitivity and specificity of the indirect fluorescent antibody test and the direct agglutination test render these serological methods useless as diagnostic screening methods in the early stages of this disease. PMID:7406101

1980-07-01

339

Clinical aspects of Marburg hemorrhagic fever

Bunker Hill Co. v. Environmental Protection Agency (EPA) challenged EPA's right to make on-site inspections. A review of the arguments in three Circuit Court Cases shows that the inspection would be meaningless if the chemical company retained exclusive control over inspections and the generated information, but neither court held the company in contempt for refusing admission to inspectors. Industry's claim that on-site monitoring is unconstitutional and the compromises in lawsuits suggest a lack of compliance by both industry and EPA in monitoring regulations. Congress needs to rewrite less-ambiguous regulations. 59 references. (DCK)

1983-01-01

340

British Library Electronic Table of Contents (United Kingdom)

Marburg virus belongs to the genus Marburgvirus in the family Filoviridae and causes a severe hemorrhagic fever, known as Marburg hemorrhagic fever (MHF), in both humans and nonhuman primates. Similar to the more widely known Ebola hemorrhagic fever, MHF is characterized by systemic viral replication, immunosuppression and abnormal inflammatory responses. These pathological features of the disease contribute to a number of systemic dysfunctions including hemorrhages, edema, coagulation abnormalities and, ultimately, multiorgan failure and shock, often resulting in death. A detailed understanding of the pathological processes that lead to this devastating disease remains elusive, a fact that contributes to the lack of licensed vaccines or effective therapeutics. This article will review the...

2011-01-01

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341

Renewable energies and energy choices. Summary of the colloquium; Energies renouvelables et choix energetiques. Compte rendu du colloque

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

This document is an executive summary of the colloquium organized by the French syndicate of renewable energies (SER) which took place at the Maison de l'UNESCO in Paris during the national debate on energies organized by the French government in spring 2003. The colloquium was organized around 6 round tables dealing with: the world perspectives and the environmental context of the contribution of renewable energies to the sustainable development (respect of Kyoto protocol commitments, contribution to the security of energy supplies, lack of large scale program of development of decentralized power generation in developing countries, lack of market tools linked with CO{sub 2} emissions, improvement of competitiveness); development of renewable energies in Europe (promotion and sustain in all European countries, obligation of supply and purchase, pricing regulation, European harmonization of practices); renewable electricity and its ...

2003-05-01

342

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

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).

343

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

344

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

345

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

346

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

347

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

348

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

349

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

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

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

350

Hypoxia decreases sclerostin expression and increases Wnt signaling in osteoblasts

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

351

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

352

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

353

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

354

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

355

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

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

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

356

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

357

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

358

Characteristics of radiation-induced neoplastic transformation in vitro

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

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

359

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

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

360

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

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

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361

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

362

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

Radiation effects on shoot tip culture of chrysanthemum, 2

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

363

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

(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 ...

364

Novel method for differentiation between Trastuzumab and host adaptive response.

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

365

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

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

366

Association of attention-deficit disorder and the dopamine transporter gene

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

367

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

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

368

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

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

369

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

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

370

The properties and transport phenomena in oxide films on iron, nickel, chromium and their alloys in aqueous environments

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

371

Who's In The Dark: Satellite Based Estimates Of Electrification Rates

The construction materials used in coolant systems in nuclear power plants become covered with oxide films as a result of exposure to the aqueous environment. The susceptibility of the materials to different forms of corrosion, as well as the extent of the incorporation of radioactive species on the surfaces of the primary circuit, are greatly influenced by the physical and chemical properties of these oxide films. The composition and characteristics of the oxide films in turn depend on the applied water chemistry. This work was undertaken in order to collect and evaluate the present views on the structure and behaviour of oxide films formed on iron- and nickel-based materials in aqueous environments. This survey should serve to recognise the areas in which more understanding and research effort is needed. The review begins with a discussion on the bulk oxides of iron, nickel and chromium, as well as their mixed oxides. In addition to bulk oxides, the structure and properties of oxide ...

2010-03-01

372

Water You Engineering? An Activity to Develop Water-Quality Awareness

A technique has been developed to estimate the percent population having electric power access based on the presence of satellite detected nighttime lighting. A global survey was conducted for the year 2006 using nighttime lights collected by the U.S. Air Force Defense Meteorological Satellite Program (DMSP) in combination with the U.S. Department of Energy Landscan population dataset. The survey includes results for 229 countries and more than 2000 subnational units. The results are compared to reported electrification rates for 87 countries compiled from a variety of sources by the International Energy Agency. The DMSP derived estimate of number of people worldwide who lack access to electricity is 1.62 billion, only slightly larger than the 1.58 billion estimated by the International Energy Agency.

2011-01-01

373

Vessel elements present in the secondary xylem of Trochodendron and Tetracentron (Trochodendraceae)

Water is one of our most precious resources. However, for many in the United States, having fresh, safe drinking water is taken for granted, and due to this perceived lack of relevance, students may not fully appreciate the luxury of having safe running water--in the home. One approach to resolving water-quality issues in the United States may reside in providing education that presents accurate information in a meaningful way. Accordingly, this article describes a unit designed to emphasize the importance of water-quality testing and purification and to introduce students to local water-quality issues. The engineering-based module of this eighth-grade science activity is particularly important due to the design-build-test component. (Contains 5 figures.)

2009-04-01

374

British Library Electronic Table of Contents (United Kingdom)

For almost 150 years, the two monotypic genera Trochodendron and Tetracentron (Trochodendraceae) have been considered to share an unusual and primitive feature in angiosperms - the lack of vessels in their wood. Therefore, they have been classified in a basal position in the angiosperms. Our observations by light microscopy, low-vacuum environmental scanning electron microscopy (ESEM) and high-vacuum scanning electron microscopy (SEM) both in fresh and FAA-fixed materials consistently showed the presence of tracheary elements differentiated into two types in both genera. In Trochodendron, the tracheary elements can be divided into perforate vessel elements and imperforate fiber-tracheids and tracheids. The vessel elements show end and lateral walls. The pits on the end walls are elongate- ...

2011-01-01

375

Use of shell model calculations in R-matrix studies of neutron-induced reactions

Universalizing Nine-Year Compulsory Education for Poverty Reduction in Rural China

R-matrix analyses of neutron-induced reactions for many of the lightest p-shell nuclei are difficult due to a lack of distinct resonance structure in the reaction cross sections. Initial values for the required R-matrix parameters, E,sub(lambda) and ..gamma..sub(lambdac) for states in the compound system, can be obtained from shell model calculations. In the present work, the results of recent shell model calculations for the lithium isotopes have been used in R-matrix analyses of /sup 6/Li+n and /sup 7/Li+n reactions for E sub(n) < 8 MeV. Consequences of the shell model predictions for the level structure of /sup 7/Li and /sup 8/Li on the /sup 6/Li+n and /sup 7/Li+n reaction mechanisms and cross sections are discussed.

1986-01-01

376

Understanding the mismatch between the demands of risk assessment and practice of scientists ? The case of Deca-BDE

Lack of access to basic education leads to diminished individual and national capabilities, therewith furthering cycles of poverty. An equitable education system meeting basic learning needs represents not only a human right, but also a means for reducing poverty, promoting productivity, and sustaining development. The Government of China--the most populous developing nation, the majority of whose citizens live in rural areas--has been committed to universalizing nine-year compulsory education among school-aged children and eliminating illiteracy among youths and adults aged 15-45. This study examines lessons learned from China's efforts in these areas. It also reports on current challenges and trends in a new national initiative for achieving high-quality universal basic education by the year 2007.

2006-05-01

377

British Library Electronic Table of Contents (United Kingdom)

This review describes how a mismatch between the knowledge produced by scientists and the evidence demanded by regulators has emerged, and how society has struggled to find definitive answers to questions of safety, for an important flame retardant chemical in current use ? Deca-BDE. This has involved two key disciplines: analytical chemistry and toxicology. Within the chemistry, a lack of standardized methodologies among scientists has resulted in a persistent yet largely undeclared failure to replicate results within the discipline. Within the toxicology, the quest for innovative, curiosity-driven research by university scientists in preference to using validated standard protocols, designed to promote consistency within the risk assessment process, has prompted questions about the credi...

2011-01-01

378

Tunable single-wavelength semiconductor lasers

Those nuclear wastes nobody knows what to do with; Ces dechets nucleaires dont on ne sait que faire

This dissertation deals with both the theoretical and the technological aspects of monolithic tunable lasers, and the experimental techniques for opto-electronic integration. In the theoretical part, the principles and limitations of wavelength tuning and spectral linewidth reduction in monolithic semiconductor lasers are described, with coupled distributed feedback-Fabry Perot (DFB-FP) lasers and long DFB lasers as examples. Stepwise tuning of wavelength over tens of nanometers and continuous tuning over the range of a mode spacing are shown to be possible. Spatial hole burning is found to affect the spectral linewidth of lasers involving strong active gratings. On the technological side, one of the major issues is the fabrication of flexible gratings. Direct-writing techniques, such as focused ion beam (FIB) implantation and e-beam lithography, provide the resolution, flexibility and accuracy that conventional holographic lithography lacks. The parasitic ...

1988-01-01

379

The effectiveness of glucose, sucrose, and fructose in treating hypoglycemia in children with type 1 diabetes

The important use of nuclear energy in Europe, and in particular in France, has a beneficial impact on the air quality but raises important problems of radioactive waste management. The technical problems encountered by the French government with the dismantling of Superphenix reactor are a good example. Moreover, despite its reassuring talks, the electronuclear industry lobby, particularly powerful, has never been able to propose any satisfactory solution for the elimination of radioactive wastes. This article makes a criticism of the lack of visibility and democratic debate in France about the sensible subject of nuclear waste management. A comparison with the situation in other countries is made. (J.S.)

1998-01-01

380

British Library Electronic Table of Contents (United Kingdom)

Husband AC, Crawford S, McCoy LA, Pacaud D. The effectiveness of glucose, sucrose, and fructose in treating hypoglycemia in children with type 1 diabetes. Objective: There is a lack of evidence regarding the most effective treatment option for managing naturally occurring hypoglycemia in children with type 1 diabetes. The objectives of this study were (i) to determine if sucrose and fructose are equally effective as glucose in the treatment of spontaneous hypoglycemia in children with type 1 diabetes; and (ii) to determine prestudy and poststudy hypoglycemia treatment preferences. Methods: Thirty-three subjects [aged 5.4-15.5 yr and average duration of type 1 diabetes of 3.1 yr (SD = 2.3)] participated in a randomized, crossover design. The main outcome was the effectiveness of treatment a...

2010-01-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

381

Tailor die quenching in hot stamping for producing ultra-high strength steel formed parts having strength distribution

British Library Electronic Table of Contents (United Kingdom)

Tailor die quenching in the hot stamping of quenchable steel sheets was developed to produce ultra-high strength steel formed parts having strength distribution. Local portions of the heated sheet were quenched by holding grooved tools at the bottom dead centre during the stamping. Non-contact portions were generated in the sheet by grooving the tools, and thus the strength in the contact portions is high owing to the quenching and that in the non-contact portions is low owing to the lack of the quenching. Hat-shaped products having a tensile strength of approximately 1.5GPa only at four corners were formed.

2010-01-01

382

Sustainable technological policy options for rural water supply management in selected rural areas of Oyo State, Nigeria

British Library Electronic Table of Contents (United Kingdom)

Purpose - After almost 60 years of water supply development in Nigeria, it is unfortunate that as many as 43 per cent of the population still lack access to safe water. The situation is worse in the rural areas. There is, therefore, the need to better understand the constraints and challenges of water supply, especially in the rural areas of the country. With this regard this study seeks to assess the extent to which stakeholders are willing and able to adopt and implement sustainable, cost-effective and environmentally friendly management options for water resources in selected rural areas of Oyo State, Nigeria. Design/methodology/approach - The study areas include three rural/semi-urban Local Government Areas (LGAs) of Oyo state. The three LGAs are Ibarapa, Afijio, and Lagelu. The choice...

2011-01-01

383

Stress corrosion cracking: 1965-1990

Sheathed cold-formed steel housing: A seismic design procedure

Advances in the theory and practice of stress corrosion cracking (SCC) are reviewed for the period 1965-1990. The proceedings of two landmark conferences are used as a basis for discussion: Ohio State University (1967) and Kohler, WI (1988). The discussion is developed around the following topics: metal-environment combinations, testing, fractography, metallurgical aspects, electrochemical aspects and crack chemistry, mechanisms, and prediction and mitigation. It is concluded that the main developments since 1967 are the recognition of the lack of specificity of SCC environments, the use of slow strain rate and fracture mechanics testing, quantitative SEM fractography, studies of grain boundary structure and compositions, transient electrochemistry of bare metal surfaces, measurement and modelling of crack chemistry, elaboration of several SCC models, including slip-dissolution and film induced cleavage, and mitigation by alloy development or anodic protection. ...

1990-01-01

384

British Library Electronic Table of Contents (United Kingdom)

Nowadays, different research teams are engaged on experimental and theoretical studies having as main aim the evaluation of seismic performance of sheathed cold-formed steel frame structures. Although a relatively large number of experimental and theoretical studies are available, the development of useful tools for the seismic design should be improved. As an attempt to overcome this lack, this paper aims to present a structural design procedure that allows, through the definition of three design nomographs, the screw spacing and all the shear walls components to be obtained on the basis of linear dynamic or nonlinear static seismic analysis. In addition, a procedure for the prediction of the whole pushover response curve of sheathed cold-formed steel shear walls, which can be advantageou...

2009-01-01

385

Science and Society: Integrity and honesty in research

Responses of Bark Beetle-Associated Bacteria to Host Monoterpenes and Their Relationship to Insect Life Histories

Results that contradict known physics, data manipulated, lack of vigilance by co-authors, failures in the system for scientific publication... Last September a US Committee of Enquiry unveiled one of the most serious frauds in the history of physics. Over a two year period, a young researcher at Bell Laboratories had published a large number of articles with exciting results for solid state physics, but which, alas, were fraudulent! Obviously a fraud of this magnitude is exceptional. However, it did serve to focus attention on the problem of integrity and honesty in research practices. This subject, crucial to the well-being and credibility of scientific research, will be the central theme of the lecture given by Nicholas Steneck, Professor of History at the University of Michigan. A leading expert on this issue, on which he has published extensively, he is a consultant to the Office of Research Integrity in the US, and has been closely involved in public ...

2003-01-01

386

British Library Electronic Table of Contents (United Kingdom)

Bark beetles that colonize living conifers and their microbial associates encounter constitutive and induced chemical defenses of their host. Monoterpene hydrocarbons comprise a major component of these allelochemicals, and many are antibiotic to insects, fungi, and bacteria. Some bark beetle species exhaust these defenses by killing their host through mass attacks mediated by aggregation pheromones. Others lack adult aggregation pheromones and do not engage in pheromone-mediated mass attacks, but rather have the ability to complete development within live hosts. In the former species, the larvae develop in tissue largely depleted of host terpenes, whereas in the latter exposure to these compounds persists throughout development. A substantial literature exists on how monoterpenes affect b...

2011-01-01

387

Quantitative measurements of injections into porous media with contrast based MRI

British Library Electronic Table of Contents (United Kingdom)

Porous flow occurs in a wide range of materials and applies to many commercially relevant applications such as oil recovery, chemical reactors and contaminant transport in soils. Typically, breakthrough and pressure curves of column floods are used in the laboratory characterization of these materials. These characterization methods lack the detail to easily and unambiguously resolve flow mechanisms with similar effects at the core scale that can dominate at the aquifer or oil field scale, as well as the effects of geometry that control the flow at interfaces as in a perforated well or the inlet of an improperly designed column. Non-invasive imaging techniques such as MRI have been shown to provide a far more detailed characterization of the properties of the solid matrix and flow, but usu...

2011-01-01

388

Prospective observation of CAD/CAM titanium ceramic single crowns: A three-year follow up

British Library Electronic Table of Contents (United Kingdom)

Statement of problem Computer-aided design/computer-aided manufacturing (CAD/CAM) titanium ceramic restorations were developed with the potential for replacing expensive, high noble metal ceramic restorations. However, there is a lack of information about the clinical performance of CAD/CAM titanium ceramic single crowns. Purpose The purpose of this study was to evaluate CAD/CAM titanium ceramic single crowns after 3 years in function. Material and methods A total of 41 crowns were fabricated for 21 patients. The titanium copings were CAD/CAM milled (Everest CAD/CAM system) with an even thickness of 0.5 mm, and low-fusing veneering porcelain (Vita Titanium Porcelain) was added incrementally. The crowns were cemented using zinc phosphate cement after confirming that there were no mechanical...

2009-01-01

389

Proposed roadmap for overcoming legal and financial obstacles to carbon capture and sequestration

Programmed cell death during pigment gland formation in Gossypium hirsutum leaves

Many existing proposals either lack sufficient concreteness to make carbon capture and geological sequestration (CCGS) operational or fail to focus on a comprehensive, long term framework for its regulation, thus failing to account adequately for the urgency of the issue, the need to develop immediate experience with large scale demonstration projects, or the financial and other incentives required to launch early demonstration projects. We aim to help fill this void by proposing a roadmap to commercial deployment of CCGS in the United States.This roadmap focuses on the legal and financial incentives necessary for rapid demonstration of geological sequestration in the absence of national restrictions on CO2 emissions. It weaves together existing federal programs and financing opportunities into a set of recommendations for achieving commercial viability of geological sequestration.

2009-03-01

390

British Library Electronic Table of Contents (United Kingdom)

Abstract Ultrastructural studies have shown that the formation of pigment glands in Gossypium hirsutum L. leaves is a lysigenous process, originating from a cluster of cells in the ground meristem. Various techniques were used here to investigate whether programmed cell death (PCD) plays a critical role in this developmental process. Nuclei of internal cells in the pigment gland-forming tissue were TUNEL-positive and DAPI-negative, suggesting that DNA cleavage is an early event and complete DNA degradation is a late event. Smeared bands and a lack of laddering after gel electrophoresis indicate that DNA cleavage is random. Ultrastructurally, secretory cells in the pigment glands become distorted, nuclei are densely stained, and chromosomes become condensed until completely degraded at late...

2010-01-01

391

Primates do not spontaneously use shape properties for object individuation: a competence or a performance problem?

British Library Electronic Table of Contents (United Kingdom)

Several recent studies have documented that non-human primates can individuate objects according to property and/or kind information in much the same way as human infants do from around one year of age when they begin to acquire language. Some studies suggest, however, that only some properties are used for the individuation of food items: color, but not shape. The present study investigated whether these findings reveal a true competence problem with shape properties in the food domain or whether they merely reveal a performance problem (e.g., lack of attention to shapes). We tested 25 great apes (chimpanzees, bonobos and gorillas) in two food individuation tasks. We manipulated subjects? experience with differences in color and shape properties of food items. Results indicated (i) that a...

2011-01-01

392

Prediction of transient-enhanced diffusion during rapid thermal annealing of ion-implanted silicon

Practical applications and feasibility of efflux pump inhibitors in the clinic-A vision for applied use

There have been several reports of transient-enhanced diffusion during furnace or rapid thermal annealing of ion-implanted silicon and some reports of no enhancement. In this contribution, the authors show that many of the observed effects can be accounted for by an interstitial trapping mechanism, in which large numbers of Si atoms are trapped by group V dopant atoms in the amorphous material during implantation. These trapped atoms are retained during solid-phase-epitaxial (SPE) growth, but can be released later during thermal processing to give the transient-enhanced diffusion. The authors present a model which can predict the transient effects (or lack of them) for any concentration of Sb, Bi, or As dopants sufficient to amorphize the silicon and any thermal processing technology which relies on SPE growth (furnace, cw laser, or rapid thermal annealing).

1985-03-01

393

British Library Electronic Table of Contents (United Kingdom)

The world of antibiotic drug discovery and development is driven by the necessity to overcome antibiotic resistance in common Gram-positive and Gram-negative pathogens. However, the lack of Gram-negative activity among both recently approved antibiotics and compounds in the developmental pipeline is a general trend despite the fact that the plethora of covered drug targets are well-conserved across the bacterial kingdom. Such intrinsic resistance in Gram-negative bacteria is largely attributed to the activity of multidrug resistance (MDR) efflux pumps. Moreover, these pumps also play a significant role in acquired clinical resistance. Together, these considerations make efflux pumps attractive targets for inhibition in that the resultant efflux pump inhibitor (EPI)/antibiotic combination d...

2006-01-01

394

Potential of AMS for Quantifying Long-Lived Reaction Products

Pore formation during hybrid laser-tungsten inert gas arc welding of magnesium alloy AZ31B--mechanism and remedy

Accelerator mass spectrometry (AMS) represents a powerful technique for the detection of long-lived radionuclides through ultra-low isotope ratio measurements. In many cases, counting atoms rather than decays yields much higher sensitivities. The potential of AMS will be demonstrated on typical radionuclides of interest with half-lives between some tens of years up to a hundred million years. The precise measurement of the 27Al(n,2n)26Al excitation function will be exemplified. Lack of information exists for a list of nuclides as pointed out by nuclear data requests. A brief overview on detection limits and some applications for selected long-lived radionuclides is given.

2005-05-24

395

Police in the Dorms: Student Safety or Privacy Infringement?

One of the major concerns during high speed welding of magnesium alloys is the presence of porosity in the weld metal that can deteriorate mechanical properties. This study seeks to analyze the presence method and quantity of pore during hybrid laser-tungsten inert gas arc (TIG) welding of magnesium alloy AZ31B by radiography, optical microscopy and electron probe microanalysis (EMPA). At the same time, it identifies both the mechanism of pore formation and a remedy for this problem. The experimental results indicate that lacking of shielding gas for laser beam is the dominant cause of macroporosity formation during the hybrid of laser-TIG welding of magnesium Alloys AZ31B plate, and hydrogen is not main cause to form large pores. A favorable weld without porosity can be obtained by appending lateral shielding gas for laser beam.

2005-01-15

396

Pigpen, a nuclear coiled body component protein, is involved in angiogenesis

Since 1970, officers on the Seattle campus have regularly patrolled the hallways of dormitories of the University of Washington. It is a community-policing strategy, a low-key way to engage students. However, the practice might cease this fall. In June, the state's Court of Appeals ruled that students have the same right to privacy in dormitory hallways as they do in their rooms. Therefore, the court concluded, campus police officers lack the legal authority to randomly patrol residence halls. Although the closely watched ruling bears on only one state, it reveals the tension between privacy and security in dormitories everywhere. Residence halls are legally complex spaces, where crime often creeps in and where residents, perhaps more than ever, expect administrators and police officers to ensure their safety.

2008-07-25

397

British Library Electronic Table of Contents (United Kingdom)

We previously reported that puromycin-insensitive leucyl-specific aminopeptidase (PILSAP) is required for vascular endothelial growth factor (VEGF)- and basic fibroblast growth factor (bFGF)-induced angiogenesis and for endothelial differentiation from embryonic stem (ES) cells via the aminopeptidase activity of PILSAP. In this study, we searched for molecules that function during angiogenesis with PILSAP. We performed proteome analysis of nuclear extracts from embryoid bodies (EBs) made from ES cells transfected with mutant PILSAP lacking aminopeptidase activity and mock EBs. We identified pigpen, a 67-kDa nuclear coiled body component protein. Immunoprecipitation and western blotting demonstrated the binding of PILSAP and pigpen in endothelial cells (ECs), and this interaction was enhanc...

2010-01-01

398

Photosynthetic energy storage efficiency in Chlamydomonas reinhardtii, based on microsecond photoacoustics

British Library Electronic Table of Contents (United Kingdom)

Using a novel, pulsed micro-second time-resolved photoacoustic (PA) instrument, we measured thermal dissipation and energy storage (ES) in the intact cells of wild type (WT) Chlamydomonas reinhardtii, and mutants lacking either PSI or PSII reaction centers (RCs). On this time scale, the kinetic contributions of the thermal expansion component due to heat dissipation of absorbed energy and the negative volume change due to electrostriction induced by charge separation in each of the photosystems could be readily distinguished. Kinetic analysis revealed that PSI and PSII RCs exhibit strikingly different PA signals where PSI is characterized by a strong electrostriction signal and a weak thermal expansion component while PSII has a small electrostriction component and large thermal expansion....

2011-01-01

399

Pharmacological treatment of primary negative symptoms in schizophrenia: A systematic review

British Library Electronic Table of Contents (United Kingdom)

BackgroundOptimal treatment of primary negative symptoms is important because their presence is associated with poor outcome.AimsTo systematically review all studies dealing with the efficacy of pharmacological agents on primary negative symptoms.MethodA comprehensive search of the relevant literature was undertaken using electronic database, reference lists and personal contact.ResultsThere is a lack of standardized research designs. Amisulpride is the most extensively studied drug with respect to efficacy against primary negative symptoms. At low doses it demonstrates a consistent, modest effect compared to placebo, though not to conventional antipsychotics and has yet to be tested against other atypicals. Evidence from multiple studies that used simple statistical analyses and inclusion...

2006-01-01

400

Permanent versus disconnectable FPSOs

British Library Electronic Table of Contents (United Kingdom)

Floating production storage and offloading (FPSO) vessels offer a cost-effective field development solution, especially in deepwater areas lacking an adequate pipeline network. Most FPSOs are permanently moored, i.e. the complete system is designed to withstand any kind of extreme environment at the field location. FPSOs that can be quickly disconnected from their moorings and risers have also been designed and deployed. The key feature of this type of disconnectable FPSO is that it can be disconnect and so avoid dangerous environmental conditions such as icebergs, hurricanes in the Gulf of Mexico and typhoons in the South China Sea. In this paper, the concept of disconnectable FPSOs for deepwater field development is presented. Key technologies and their engineering analyses are highlight...

2009-01-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

401

Performance of ceramics in ring/cylinder applications

Parallelization of the FLAPW method

In support of the efforts to apply ceramics to advanced heat engines, a study is being performed of the performance of ceramics at the ring/cylinder interface of advanced (low heat rejection) engines. The objective of the study, managed by the Oak Ridge National Laboratory, is to understand the basic mechanisms controlling the wear of ceramics and thereby identify means for applying ceramics effectively. Attempts to operate three different zirconias, silicon carbide, silicon nitride, and plasma-sprayed ceramic coatings without lubrication have not been successful because of excessive friction and high wear rates. Silicon carbide and silicon nitride perform well at ambient temperatures with fully formulated mineral oil lubrication, but are limited to temperatures of 500F because of the lack of suitable liquid lubricants for higher temperatures.

1987-01-01

402

Optical properties of Nb and Mo calculated from augmented-plane-wave band structures

The FLAPW (full-potential linearized-augmented plane-wave) method is one of the most accurate first-principles methods for determining electronic and magnetic properties of crystals and surfaces. Until the present work, the FLAPW method has been limited to systems of less than about one hundred atoms due to a lack of an efficient parallel implementation to exploit the power and memory of parallel computers. In this work we present an efficient parallelization of the method by division among the processors of the plane-wave components for each state. The code is also optimized for RISC (reduced instruction set computer) architectures, such as those found on most parallel computers, making full use of BLAS (basic linear algebra subprograms) wherever possible. Scaling results are presented for systems of up to 686 silicon atoms and 343 palladium atoms per unit cell, running on up to 512 processors on a CRAY T3E parallel computer.

1999-12-01

403

Opportunities for Russian Nuclear Weapons Institute developing computer-aided design programs for pharmaceutical drug discovery. Final report

Nonrelativistic band calculations of Mattheiss for Nb and Petroff and Viswanathan for Mo are used to calculate the imaginary part epsilon_2 of the dielectric function for these metals. The structure resulting from interband transitions in the frequency range 0.1--0.5 Ry is found to give fairly good agreement with experiment. The calculation indicates that structure in epsilon_2 can arise from transitions away from symmetry points and lines in the Brillouin zone. The difficulty in distinguishing between the direct and indirect transition models for epsilon_2 is shown to arise from a lack of strong optical critical points. Predictions of the rigid-band model for the optical properties of Nb-Mo alloys are presented.

404

One-electron redox reactions of pyrazolin-5-ones. A pulse radiolysis study of antipyrine and analogues

The goal of this study is to determine whether physicists at the Russian Nuclear Weapons Institute can profitably service the need for computer aided drug design (CADD) programs. The Russian physicists` primary competitive advantage is their ability to write particularly efficient code able to work with limited computing power; a history of working with very large, complex modeling systems; an extensive knowledge of physics and mathematics, and price competitiveness. Their primary competitive disadvantage is their lack of biology, and cultural and geographic issues. The first phase of the study focused on defining the competitive landscape, primarily through interviews with and literature searches on the key providers of CADD software. The second phase focused on users of CADD technology to determine deficiencies in the current product offerings, to understand what product they most desired, and to define the potential demand for such a product.

1996-09-23

405

On the Robustness of Robustness Checks of the Environmental Kuznets Curve Hypothesis

One-electron oxidation of several derivatives of pyrazolin-5-one, including the drug antipyrine, were studied by pulse radiolysis of aqueous solutions. All the compounds were found to be oxidized by Br2 rapidly but considerably more slowly by weaker oxidants, such as peroxyl radicals. From redox equilibria using p-methoxyphenol and N,N,N',N'-tetramethyl-p-phenylenediamine as reference compounds, the one-electron oxidation potentials of the methyl-substituted 2-pyrazolin-5-ones were found to be in the range of 0.32-0.39 V versus normal hydrogen electrode. The relevance of these findings to the properties of the drug nafazatrom is discussed. Antipyrine was found to have a much higher oxidation potential, estimated as 1.2-1.5 V, which is rationalized on the basis of the phenyl substitution and lack of resonance stabilization of the radical cation.

1985-10-01

406

British Library Electronic Table of Contents (United Kingdom)

Since its first inception in the debate on the relationship between environment and growth in 1992, the Environmental Kuznets Curve hypothesis (EKC hereafter) has been subject of continuous and intense scrutiny. The most recent line of investigation criticizes the EKC hypothesis on more fundamental grounds, in that it stresses the lack of sufficient statistical testing of the empirical relationship and questions the very existence of the notion of EKC. Attention is in particular drawn on the stationarity properties of the series involved?per capita emissions or concentrations and per capita GDP?and, in case of presence of unit roots, on the cointegration property that must be present for the EKC to be a well-defined concept. Only at that point can the researcher ask whether the long-run re...

2009-01-01

407

On the Nature of the Cosmological Constant Problem

General relativity postulates the Minkowski space-time to be the standard flat geometry against which we compare all curved space-times and the gravitational ground state where particles, quantum fields and their vacuum states are primarily conceived. On the other hand, experimental evidences show that there exists a non-zero cosmological constant, which implies in a deSitter space-time, not compatible with the assumed Minkowski structure. Such inconsistency is shown to be a consequence of the lack of a application independent curvature standard in Riemann's geometry, leading eventually to the cosmological constant problem in general relativity. We show how the curvature standard in Riemann's geometry can be fixed by Nash's theorem on locally embedded Riemannian geometries, which imply in the existence of extra dimensions. The resulting gravitational theory is more general than general relativity, similar to brane-world gravity, but where the propagation of the ...

2009-01-01

408

NEW SLAG-BASED CONCRETES

Methanol production FPSO plant concept using multiple microchannel unit operations

ObjectivesTo determine the reaction rate of slag during curing and factors affecting reactivity.~%~~%~To measure the rates of chloride ingress into concrete and the extent of chloride binding.~%~~%~To determine conditions for pitting corrosion and the nature of corrosion products.~%~~%~To characterise the reactions in slag-calcium alumina cement hydration and the nature of the products.~%~DescriptionBlast-furnace slag has latent hydraulic properties, giving considerable potential for commercial use in addition to its widespread use as a partial replacement for Portland cement, notably in alkali-activated slag (AAS) and slag-calcium alumina cement (CAC) concretes. Use of AAS concretes is already well-established in China and the former USSR, but their further application is hindered by lack of research into setting, hydration and durability, Slag/CAC blends are new materials whose chemistr [continued...

1999-01-09

409

British Library Electronic Table of Contents (United Kingdom)

Remote, offshore gas reserves have long been a challenging deepwater petroleum resource to tap. Natural gas in many offshore regions is plentiful, but lacks access to the market because of the logistical challenges and costs. Most large offshore gas discoveries are capped, and gas associated with oil production is re-injected into the reservoir or is flared. A more attractive option is to convert the gas into a liquid product on a floating production, storage, and offloading (FPSO) vessel. However, some conventional process technologies are not well suited for operation on floating vessels that are highly space and weight constrained and may challenge vessel stability during inclement weather. Microchannel process technology units under development offer intensified processes that are suit...

2008-01-01

410

Mannose-specific interaction of Lactobacillus plantarum with porcine jejunal epithelium

British Library Electronic Table of Contents (United Kingdom)

Abstract Host-microorganism interactions in the intestinal tract are complex, and little is known about specific nonpathogenic microbial factors triggering host responses in the gut. In this study, mannose-specific interactions of Lactobacillus plantarum 299v with jejunal epithelium were investigated using an in situ pig Small Intestinal Segment Perfusion model. The effects of L. plantarum 299v wild-type strain were compared with those of two corresponding mutant strains either lacking the gene encoding for the mannose-specific adhesin (msa) or sortase (srtA; responsible for anchoring of cell surface proteins like Msa to the cell wall). A slight enrichment of the wild-type strain associated with the intestinal surface could be observed after 8 h of perfusion when a mixture of wild-type and...

2008-01-01

411

Magnetic properties of Fe-Co-Mo-Cu-B nanocrystalline ribbons with stressing surfaces

British Library Electronic Table of Contents (United Kingdom)

Magnetic properties of Fe-Co-Mo-Cu-B alloy system with Co up to 26at.% were investigated. After proper thermal treatment, the nanocrystalline grain remains tiny, the density hardly increases, but the room-temperature saturation attains 1.5T mainly due to a high enough Curie temperature. The generally observed slant hysteresis loops point to ribbon surfaces, which stress the ribbon interior and induce a specific magnetoelastic contribution to hard-ribbon-axis magnetic anisotropy even after vacuum annealing. The effect does not come from cobalt but rather from the lack of silicon. Partial removal of the surfaces resulted in a decrease of the loop tilt.

2011-01-01

412

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

413

Local Electrostatic Moments and Periodic Boundary Conditition

Laparoscopic adrenal-sparing surgery: personal experience, review on technical aspects

Electronic structure calculations frequently invoke periodic boundary conditions to solve for electrostatic potentials. For systems that are electronically charged, or contain dipole (or higher) moments, this artifice introduces spurious potentials due to the interactions between the system and multipole moments of its periodic images in aperiodic directions. I describe a method to properly handle the multipole moments of the electron density in electronic structure calculations using periodic boundary conditions. The density for which an electrostatic potential is to be evaluated is divided into two pieces. A local density is constructed that matches the desired moments of the full density, and its potential computed treating this density as isolated. With the density of this local moment countercharge removed from the full density, the remainder density lacks the troublesome moments and its electrostatic potential can be evaluated accurately using periodic ...

1998-12-04

414

British Library Electronic Table of Contents (United Kingdom)

Partial adrenalectomy is usually performed for the treatment of bilateral pheochromocytomas and in case of sporadic, monolateral tumors, to minimize the risk of adrenal failure, especially in younger patients. Due to the lack of consistent series, many issues such as correct surgical indications and technical aspects still need to be debated. From 2007 to 2010 we performed four unilateral partial adrenalectomies (3 aldosterone-producing adenomas and 1 cortisol-producing adenoma), and three bilateral subtotal adrenalectomies, consisting in total adrenalectomy on one side and partial adrenalectomy on the contralateral gland (3 bilateral pheochromocytomas in MEN IIa). In case of single tumor, partial adrenalectomy was carried out without adrenal vein ligation and the results were similar to t...

2011-01-01

415

Lack of Association of the Genotype in the GNAS Fok I Polymorphism and Prostate Cancer

British Library Electronic Table of Contents (United Kingdom)

Abstract Background: G proteins are ubiquitously expressed signal transduction proteins playing a key role in multiple signal transduction pathways. The Gas subunit has been considered as an apoptosis factor. In this study the role of GNAS T393C genotypes of the GNAS gene encoding Gas was analyzed for its influence on the development and progression of prostate cancer. Methods: Genotyping of the GNAS T393C polymorphism in 196 prostate cancer patients and 200 healthy controls was performed by DNA extraction followed by PCR and restriction analysis. Results: We observed no evidence of effects related to GNAS T393C genotype as demonstrated by a comparison of the genotype distribution in prostate cancer patients and healthy controls, the genotype distribution dependent on grade of the primary ...

2011-01-01

416

Interactions of SO{sub x} and NO{sub x} with soot

Inhibitory activity of Pseudomonas sp. on Flavobacterium psychrophilum, in vitro

Studies of the adsorption of oxides of sulfur and nitrogen, and their coadsorption, on black carbon in the form of n-hexane soot have been carried out by microgravimetry, EPR and FTIR spectroscopy over a wide range of experimental conditions. The mechanisms of adsorption of O{sub 2} and NO{sub 2} are entirely different, as reflected by adsorption isotherms, the behavior of carbon`s unpaired electrons, the spectral features of surface species formed, mass changes during adsorption-desorption cycles, and an essential lack of competition for surface sites. Significant effects of temperature, water, SO{sub 2} and NO{sub 2} concentration, O{sub 2}, simulated solar radiation, and the presence of trace metals, have been observed and interpreted.

1996-10-01

417

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Abstract A Pseudomonas sp. isolate MSB1 efficiently inhibited the growth of Flavobacterium psychrophilum of different serotypes on agar medium. A significant difference in the inhibition was observed between isolates of the less virulent FpT serotype compared to the Fd and Th serotypes. In broth coculture experiments, a low number of cells of MSB1 inhibited and outcompeted the F.psychrophilum cells. Also cell-free culture supernatant of MSB1 clearly repressed the growth of F.psychrophilum. A chromoazurol S assay suggested that MSB1 produced efficient siderophores, which most probably were responsible for the iron deficiency in the supernatant. The limited growth of F.psychrophilum in the supernatant was found to be partly because of the lack of available iron, but the results also indicate...

2011-01-01

418

Influence of shape on ordering of granular systems in two dimensions

Inflammatory Biomarkers of Sulfur Mustard Analog 2-Chloroethyl Ethyl Sulfide-Induced Skin Injury in SKH-1 Hairless Mice

We investigate ordering properties of two-dimensional granular materials using several shapes created by welding ball bearings together. Ordered domains form much more easily in two than in three dimensions, even when configurations lack long-range order. The onset of ordered domains occurs near a packing density of 0.8, a phenomenon observed previously for disks. One of our shapes, the trapezoid, has packings that remain disordered and near the transition density even after annealing by shaking. Although random packings are unstable for disks and many other shapes in two dimensions, trapezoid packings provide an approach to studying two-dimensional randomness. We also find that the rotational symmetry of a shape is an excellent predictor of how easily it orders, and a potential guide to identifying two-dimensional shapes that remain random after annealing.

2001-06-01

419

British Library Electronic Table of Contents (United Kingdom)

Sulfur mustard (HD) is an alkylating and cytotoxic chemical warfare agent, which inflicts severe skin toxicity and an inflammatory response. Effective medical countermeasures against HD-caused skin toxicity are lacking due to limited knowledge of related mechanisms, which is mainly attributed to the requirement of more applicable and efficient animal skin toxicity models. Using a less toxic analog of HD, chloroethyl ethyl sulfide (CEES), we identified quantifiable inflammatory biomarkers of CEES-induced skin injury in dose- (0.05-2 mg) and time- (3-168 h) response experiments, and developed a CEES-induced skin toxicity SKH-1 hairless mouse model. Topical CEES treatment at high doses caused a significant dose-dependent increase in skin bi-fold thickness indicating edema. Histopathological e...

2009-01-01

420

Idaho National Laboratory Supervisory Control and Data Acquisition Intrusion Detection System (SCADA IDS)

HOW IS THE ETHICS OF STEM CELL RESEARCH DIFFERENT FROM THE ETHICS OF ABORTION?:

Current Intrusion Detection System (IDS) technology is not suited to be widely deployed inside a Supervisory, Control and Data Acquisition (SCADA) environment. Anomaly- and signature-based IDS technologies have developed methods to cover information technology-based networks activity and protocols effectively. However, these IDS technologies do not include the fine protocol granularity required to ensure network security inside an environment with weak protocols lacking authentication and encryption. By implementing a more specific and more intelligent packet inspection mechanism, tailored traffic flow analysis, and unique packet tampering detection, IDS technology developed specifically for SCADA environments can be deployed with confidence in detecting malicious activity.

2008-05-01

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Abstract: It seems that if abortion is permissible, then stem cell research must be as well: it involves the death of a less significant thing (an embryo rather than a fetus) for a greater good (lives saved rather than nine months of physical imposition avoided). However, I argue in this essay that this natural thought is mistaken. In particular, on the assumption that embryos and fetuses have the full moral status of persons, abortion is permissible but one form of stem cell research is not-the practice of creating embryos and then destroying them to extract cell material. Furthermore, I argue that the same is true on the assumption that embryos and fetuses have at least some moral status. I conclude that this form of stem cell research is permissible only if the embryos in question lack ...

2007-01-01

422

Growing RBFNN-based soft computing approach for congestion management

British Library Electronic Table of Contents (United Kingdom)

In the emerging restructured power system, the congestion management (CM) has become extremely important in order to ensure the security and reliability of the system. In addition to this, lack of CM can impose a hindrance in electricity trading. This paper presents a novel, growing radial basis function neural network (GRBFNN)-based approach for CM. For achieving CM, Nodal congestion price (NCP) forecasting is performed in real time competitive power market. NCP forecasting is an effective way of price-based preventive CM as it directly indicates the presence as well as the severity of the congestion in the system. In present paper, GRBFNN has been developed for NCP forecasting dividing the whole power system into various congestion zones. An unsupervised learning vector quantization (VQ)...

2009-01-01

423

Global Existence of Weak Solutions to a Nonlocal Cahn-Hilliard-Navier-Stokes System

Fuzzy theory applied in quality management of distributed manufacturing system: A literature review and classification

A well-known diffuse interface model consists of the Navier-Stokes equations nonlinearly coupled with a convective Cahn-Hilliard type equation. This system describes the evolution of an incompressible isothermal mixture of binary-fluids and it has been investigated by many authors. Here we consider a variant of this model where the standard Cahn-Hilliard equation is replaced by its nonlocal version. More precisely, the gradient term in the free energy functional is replaced by a spatial con- volution operator acting on the order parameter phi. Therefore the coupling with the Navier-Stokes equations is difficult to handle even in two spatial dimensions because of the lack of regularity of phi. We establish the global existence of a weak solution.

2011-01-01

424

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Fuzzy theory has been regarded as a very important technique for quality management (QM) of distributed manufacturing system and attracts the attentions of academic and industry; however, there is a lack of a comprehensive literature review and a classification scheme for it. This paper is the first academic literature review of the fuzzy theory applied in quality management of distributed manufacturing system. It involves five most popular databases in this research area and covers more than 20 journals, proposes a classification scheme using clustering analysis method. Sixty-one journal articles were finally selected, reviewed and classified. Each selected article was classified firstly based on four QM dimensions (quality planning, quality control, quality assurance and quality improvem...

2011-01-01

425

Fragranced consumer products: Chemicals emitted, ingredients unlisted

British Library Electronic Table of Contents (United Kingdom)

Fragranced consumer products are pervasive in society. Relatively little is known about the composition of these products, due to lack of prior study, complexity of formulations, and limitations and protections on ingredient disclosure in the U.S. We investigated volatile organic compounds (VOCs) emitted from 25 common fragranced consumer products-laundry products, personal care products, cleaning supplies, and air fresheners-using headspace analysis with gas chromatography/mass spectrometry (GC/MS). Our analysis found 133 different VOCs emitted from the 25 products, with an average of 17 VOCs per product. Of these 133 VOCs, 24 are classified as toxic or hazardous under U.S. federal laws, and each product emitted at least one of these compounds. For ''green'' products, emissions of these c...

2011-01-01

426

Ford's CNG vehicle research

Extensions to the VME hardware and software standards for the physics community

Several natural gas vehicles have been built as part of Ford's Alternative Fuel Demonstration Fleet. Two basic methods, compressed gas (CNG), and liquified gas (LNG) were used. Heat transfer danger and the expense and special training needed for LNG refueling are cited. CNG in a dual-fuel engine was demonstrated first. The overall results were unsatisfactory. A single fuel LNG vehicle was then demonstrated. Four other demonstrations, testing different tank weights and engine sizes, lead to the conclusion that single fuel vehicles optimized for CNG use provide better fuel efficiency than dual-fuel vehicles. Lack of public refueling stations confines use to fleet operations.

1983-06-01

427

Exposure accidents outside basic nuclear installations; Les accidents d`exposition en dehors des installations nucleaires de base

With the ubiquitous availability of commercial VME modules and interface chips many experiments in all branches of Experimental Physics are turning to VME as the module packaging and backplane protocol of choice for application specific modules. The current VME backplane, electrical, and mechanical standards are clearly lacking when it comes to implementing the analogue and digital front end modules that Physics experiments rely on to provide the needed high speed and intelligent solutions to their data collection requirements. To address these needs the European ESONE and American VME-P committees are collaborating with the ANSII and ISO standards committees, and the VME VITA/VSO manufacturers associations, to define standard extensions to the VME protocols for such HEP needs as ``sparse data scans``, standard uses and implementations of previously user defined pins and connectors, standardization of the 9U form factor VME cards etc. This paper reports on the ...

1995-10-01

428

Expert judgement of uncertainties in modelling emergency actions after nuclear accidents

With the exception of the 1945 Hiroshima and Nagasaki nuclear weapon explosions and the 1986 Tchernobyl reactor accident, most of the radiation accidents concerns the medical and the traditional industrial sectors. The seriousness of the accident is directly function of the absorbed dose. The paper, first, gives the definition of a radiologic accident with its specific criteria and pathological manifestations. Then, some famous historical accidents are reviewed from the discovery of X-rays to recent acute irradiations due to the careless manipulation of radiation sources. From this analysis, three main causes are put forward: the dysfunction of nuclear medicine apparatuses, the victims` lack of training and knowledge of the risks, and the non-identification or the loss of radiation sources. (J.S.). 1 photo.

1996-04-01

429

Experimental assessment of the velocity and temperature distribution in an indoor displacement ventilation jet

Sheltering, evacuation and distribution of stable iodine tablets are considered to be major early emergency actions aiming at diminishing the consequences after a release of radioactive materials from nuclear power plants into the air. Whether in real situations emergency managers will act accordingly is hard to predict. Uncertainties associated with these decisions are termed 'volitional' uncertainties. These uncertainties, however, cannot be assessed by expert judgements as they express the decision at stake in an emergency situation. Uncertainties on the times to implement countermeasures and on the times for the general population to respond to these measures can be assessed by experts, as they represent 'lack-of-knowledge' uncertainties. This paper describes the difference in approach of both types of uncertainties and shows the results of expert judgements on the latter type of uncertainties in early emergency actions. Ten ...

2000-07-01

430

British Library Electronic Table of Contents (United Kingdom)

Displacement Ventilation (DV) offers a great opportunity to improve indoor air quality while reducing the energy consumption compared to mixing ventilation. A frequent problem with displacement ventilation is however the draft discomfort caused by the cold air movement at foot level and excessive temperature difference between head and ankle. Despite numerous past studies, there is still a lack of detailed data regarding the velocity and temperature distribution inside DV jets. In this experimental study, measurements of the air velocity and temperature are performed in the DV jet produced by a flat wall-mounted DV diffuser, using a fine mesh focused on the 0.00-0.20 m height range. Two supply conditions are studied. Three planes of measurements are covered: the vertical longitudinal plane...

2012-01-01

431

Exclusion, exemption and clearance in the mining and minerals industry - A review of the concepts from a South African perspective

Ewing's sarcoma recurrence vs radiation necrosis in dynamic contrast-enhanced MR imaging: a case report

The risks from mining and processing of ores is reviewed on a generic basis with particular reference to some of the confusions which can arise due to lack of consistency or common logic in the use of exclusion, exemption and clearance. The difference in exclusion and exemption are challenged by comparing doses received in high background radiation areas and the doses received from a mining practice. The common principle of risk to the human species is not applied consistently. The differences between IAEA recommendations and local regulatory conditions are compared, and the use of exemption levels as clearance levels is considered. A case study on management of mine tailings is presented with special focus on the use of clearance levels. In all areas of review the interpretation of regulation is subject to confusion resulting from inconsistencies which can distort free market economics. (author).

1997-05-06

432

Evaluation of the non-formal forest education sector in the state of North Rhine-Westphalia, Germany: organisations, programmes and framework conditions

Purpose. We report a case of Ewing's sarcoma in the right distal femur in a 6-year-old male to demonstrate how dynamic contrast-enhanced magnetic resonance imaging (DEMRI) findings predicted histopathology. Materials and methods. DEMRI was performed at presentation and during and after completion of chemotherapy and radiation therapy. Histopathologic studies were done at presentation, at 77 weeks (20 weeks after a pathological fracture), and from the en bloc resection at 104 weeks. Results. DEMRI predicted the early tumor response, absence of tumor recurrence, presence of necrosis and lack of fracture healing, confirmed by histopathology. Conclusion. DEMRI is a clinically useful tool in managing Ewing's sarcoma. (orig.)

1999-04-01

433

British Library Electronic Table of Contents (United Kingdom)

Although a large number of different organisations offer various forest education programmes within Germany, specific information (i.e., sectoral and programme content and provision at a state level) is lacking. This study used a survey of all 61 forest education organisations (43 respondents) in the state of North Rhine-Westphalia, Germany, to evaluate its forest education sector, with a specific focus on the organisations, demand for its services, forest educational programmes and framework conditions. Input from expert interviews was also used to develop recommendations. The study indicates that, especially with children as the main target group, many non-formal programmes are offered to support the formal environmental education sector and to promote leisure activities in the forest. Y...

2011-01-01

434

Evaluation of Enova's heating programs; Evaluering av Enovas varmeprogrammer

Estrogen and raloxifene improve metaphyseal fracture healing in the early phase of osteoporosis. A new fracture-healing model at the tibia in rat

An evaluation of Enova's heating program is presented. The central point was to evaluate to which degree Enova's heating program had resulted in increased supply of renewable energy for heating purposes to the Norwegian energy system. Main results are presented in part 1, chapter 1 to 5, while the facts and analyses behind the evaluation are presented in part 2, chapter I to VII. The main conclusion is that the program seen as one has had triggering effect on the market. The program has thus provided results in the form of increased supply of heating energy. Because of the project limitations and the lack of systematically documented baselines in the procedures, there are insecurities connected to the exact data registered. This makes quantification of the results difficult (ml)

2006-07-01

435

British Library Electronic Table of Contents (United Kingdom)

Background Fracture healing in osteoporosis is delayed. Quality and speed of fracture healing in osteoporotic fractures are crucial with regard to the outcome of patients. The question arises whether established antiosteoporotic drugs can further improve fracture healing. Materials and methods Osteoporosis manifests predominantly in the metaphyseal bone. Nevertheless, an established metaphyseal fracture model is lacking. A standardized metaphyseal fracture-healing model with stable plate fixation was developed for rat tibiae. The healing process was analyzed by biomechanical, gene expression, and histomorphometric methods in ovariectomized (OVX) and sham-operated rats (SHAM), compared to standardized estrogen (E)- and raloxifene (R)-supplemented diets. Results Estrogen and raloxifene impro...

2010-01-01

436

Environmental Kuznets curve for CO2 in Canada

British Library Electronic Table of Contents (United Kingdom)

According to the environmental Kuznets curve hypothesis, the relationship between per-capita GDP and per-capita pollutant emissions has an inverted-U shape. This implies that, past a certain point, economic growth may actually be profitable for environmental quality. Most studies on this subject are based on estimating fully parametric quadratic or cubic regression models. While this is not technically wrong, such an approach somewhat lacks flexibility since it may fail to detect the true shape of the relationship if it happens not to be of the specified form. We use semiparametric and flexible nonlinear parametric modeling methods in an attempt to provide more robust inferences. We find little evidence in favour of the environmental Kuznets curve hypothesis. Our main results could be inte...

2010-01-01

437

Energy conservation potential in Taiwanese textile industry

Empirical tests of life-history evolution theory using phylogenetic analysis of plant demography

Since Taiwan lacks sufficient self-produced energy, increasing energy efficiency and energy savings are essential aspects of Taiwan's energy policy. This work summarizes the energy savings implemented by 303 firms in Taiwan's textile industry from the on-line Energy Declaration System in 2008. It was found that the total implemented energy savings amounted to 46,074 ton of oil equivalent (TOE). The energy saving was equivalent to 94,614 MWh of electricity, 23,686 kl of fuel oil and 4887 ton of fuel coal. It represented a potential reduction of 143,669 ton in carbon dioxide emissions, equivalent to the annual carbon dioxide absorption capacity of a 3848 ha plantation forest. This study summarizes energy-saving measures for energy users and identifies the areas for making energy saving to provide an energy efficiency baseline.

2010-11-01

438

British Library Electronic Table of Contents (United Kingdom)

Summary 1. A primary goal of evolutionary ecology is to understand factors selecting for the diversity of life histories. Life-history components, such as time-to-reproduction, adult survivorship and fecundity, might differ among species because of variation in direct and indirect benefits of these life histories in different environments or might have lower-than-expected variability because of phylogenetic constraints. Here, we present a phylogenetic examination of demography and life histories using a data base of 204 terrestrial plant species. 2. Overall, statistical models without phylogeny were preferred to models with phylogeny for vital rates and elasticities, suggesting that they lacked phylogenetic signal and are evolutionarily labile. However, the effect of phylogeny was signific...

2010-01-01

439

Effects of timing of nitrogen and sulphur fertilizers on yield, nitrogen, and sulphur contents of Tef (Eragrostis?tef (Zucc.) Trotter)

British Library Electronic Table of Contents (United Kingdom)

Nitrogen use efficiency (NUE) of tef, a major staple crop in Ethiopia, is very low, either caused by untimely use of nitrogen (N) fertilizers or lack of other essential nutrients like sulphur (S). The average grain yield of this crop is low, averaging ?1 in farmer?s fields of the semi-arid conditions. Therefore, the present study was conducted to see the effect of the timing of combined N and S fertilization on the yield, yield components, and N and S concentration in the plant parts of the crop. A factorial combination of three rates of N (0, 70, and 105?kg?ha?1) with four rates of S (0, 16, 32, and 48?kg?ha?1) was applied in randomized complete blocks in three replications. The experiment was carried out in the 2004 and 2005 cropping seasons in the Cambisols of the semi-arid area of Ethi...

2006-01-01

440

Do Spinors Frame-Drag?

Discriminating Males and Unpredictable Females: Males Bias Sperm Allocation in Favor of Virgin Females

We investigate the effect of the intrinsic spin of a fundamental spinor field on the surrounding spacetime geometry. We show that despite the lack of a rotating stress-energy source (and despite claims to the contrary) the intrinsic spin of a spin-half fermion gives rise to a frame-dragging effect analogous to that of orbital angular momentum, even in Einstein-Hilbert gravity where torsion is constrained to be zero. This resolves a paradox regarding the counter-force needed to restore Newton's third law in the well known spin-orbit interaction. In addition, the frame-dragging effect gives rise to a {\\it long-range} gravitationally mediated spin-spin dipole interaction coupling the {\\it internal} spins of two sources. We argue that despite the weakness of the interaction, the spin-spin interaction will dominate over the ordinary inverse square Newtonian interaction in any process of sufficiently high-energy for quantum field theoretical effects to be ...

2009-01-01

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441

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Abstract When both sexes mate with multiple partners, theory predicts that males should adjust their investment in ejaculates in response to the risk and/or intensity of sperm competition. Here, we demonstrate that, in the harlequin beetle riding pseudoscorpion, Cordylochernes scorpioides, males use cues deposited on females by previous males to distinguish between virgin, once-mated, and multiply-mated females and adjust sperm allocation accordingly. Sperm number declined in direct proportion to the number of previous males, with virgin females receiving nearly three times more sperm than females exposed to three previous males. Given the lack of first-male sperm precedence in C.scorpioides, this pattern is not consistent with current sperm competition models and appears best explained by...

2011-01-01

442

Discretization of complex 3-D flow domains with adaptive hybrid grids

Development and validation of control materials for the measurement of vitamin D3 in selected US foods

There is an ever increasing demand to perform flow simulations that incorporate the complete details of geometry as well as sophisticated flow physics. This has led to the development of numerical algorithms that can simulate the actual flow phenomena with greater fidelity. However, the success of these algorithms hinges on the grid that models the geometry. Grid generation methods for 2-D models have long existed and the general lack of complexity of the simpler 2-D models has not quite challenged the efforts in this area. However, demands for generating better 3-D geometric models for flow simulations involving complex geometries have completely changed the perspective of grid generation strategies. As a consequence, grid generation efforts have earned equal significance as that of numerical solver efforts.

1996-12-31

443

British Library Electronic Table of Contents (United Kingdom)

As part of the United States Department of Agricultures (USDA) National Food and Nutrient Analysis Program (NFNAP), food composition data for vitamin D in the USDA National Nutrient Database for Standard Reference are being updated and expanded, focusing on high priority foods and validated analytical methodology. A lack of certified reference materials and analytical methods validated for these key foods required the development of five matrix-specific control composite materials (CC) (canned salmon and vitamin D3 fortified cereal, orange juice, milk, and cheese). Each of six experienced laboratories (research and commercial) analyzed vitamin D3 in five subsamples of each CC in five separate analytical batches, with one subsample of each material in each run. Research laboratories perform...

2008-01-01

444

Detection of behavioral alterations and learning deficits in mice lacking synaptophysin

British Library Electronic Table of Contents (United Kingdom)

The integral membrane protein synaptophysin is one of the most abundant polypeptide components of synaptic vesicles. It is not essential for neurotransmission despite its abundance but is believed to modulate the efficiency of the synaptic vesicle cycle. Detailed behavioral analyses were therefore performed on synaptophysin knockout mice to test whether synaptophysin affects higher brain functions. We find that these animals are more exploratory than their wild type counterparts examining novel objects more closely and intensely in an enriched open field arena. We also detect impairments in learning and memory, most notably reduced object novelty recognition and reduced spatial learning. These deficits are unlikely caused by impaired vision, since all electroretinographic parameters measur...

2009-01-01

445

Defects and diffusion in silicon processing. Materials Research Society symposium proceedings Volume 469

Contaminants in Lesser and Greater Scaup Staging on the Lower Great Lakes

A strong effort is currently being devoted to the investigation of defects and diffusion phenomena in silicon. This effort is not only driven by the stringent technological requirements for the processing of integrated circuits of increased complexity and miniaturization, but also by the lack of fundamental understanding of many of the critical parameters and mechanisms involved. Experimental and theoretical investigations are needed to identify the properties of the defects, the mechanisms of impurity diffusion and the strength of impurity-defect, defect-defect, and impurity-impurity interactions. This volume provides a unique and interdisciplinary forum for the discussion of experimental, theoretical and applied aspects of defects and diffusion phenomena in silicon. Topics include: defect properties and diffusion phenomena in silicon; experimental and theoretical assessments of defect properties; transient-enhanced diffusion and dopant clustering; damage ...

1997-07-01

446

British Library Electronic Table of Contents (United Kingdom)

The decrease and subsequent lack of recovery of the North American scaup population has increased concerns about contaminants acquired during migration. We collected 189 fall- and spring-migrant lesser (Aythya affinis) and greater scaup (A. marila) on the lower Great Lakes (LGL) to determine if organic contaminants and trace elements in scaup livers were increased and to evaluate sources of variation in selenium (Se) burdens. We found that all organic contaminants were below toxic levels. Of 18 trace elements, only Se was detected at increased (>10-ppm dry-mass) levels. Se in lesser scaup increased but remained constant in greater scaup throughout fall; levels were increased in 14% of lesser scaup and 46% of greater scaup. During spring, Se increased in lesser scaup but decreased slightly ...

2007-01-01

447

Comparison of stomach contents and condition of two catfish species living at ambient temperatures and in a heated discharge

Cleansing of soils and underground waters in Japan; La depollution des sols et des eaux souterraines au Japon

The lower condition factors for two catfish species in water heated by effluents from APCo's Glen Lyn, Virginia plant as compared to control areas probably is not due to lack of food as evidenced by macroinvertebrate sampling and the fact that only 4.3 percent of the catfish stomachs were empty. Results suggested that young-of-the-year channel catfish were nonselectively eating food organisms present at both control and heated stations. The difference between stomach contents of flatheat catfish from the heated site and fauna available at that site indicated that fish were either moving out of the heated area to feed or were selectively feeding on organisms (particularly mayflies) which were in the substrate or drifted into the heated area. Stomach contents of the two species and distribution and abundance of the macroinvertebrate benthos community are detailed.

448

Chronic and non-communicable diseases: a critical challenge for nurses globally

Japanese companies have developed suitable cleansing technologies and export their know-how. Some original technologies are developed today, like: in-situ chemical oxidation, iron confinement, hot-soil process, low-temperature catalytic decomposition or dechlorination of dioxins. However, some pollutions are still poorly considered (nitrates) or badly mastered (dioxins). This situation is partly due to late legal decisions and to limited pollution abatement measures. Japan is also very active in bio-cleansing research, and this, despite the lack of dialogue and directives at the national level. Several research programs with important funds have started since 1995. However, Japan is still at the preliminary stage in open-field applications of cleansing methods. (J.S.)

1999-11-01

449

British Library Electronic Table of Contents (United Kingdom)

ALLEYNE G., HANCOCK C. & HUGHES P. (2011) Chronic and non-communicable diseases: a critical challenge for nurses globally. International Nursing Review58, 328-331 Background:- Chronic and non-communicable diseases (NCDs) are a growing and enormous challenge that faces countries across the world. Low- and middle-income countries are disproportionately affected. Contributory factors:- Three risk factors - tobacco use, poor diet (including excessive alcohol intake) and lack of physical activity - contribute to four major chronic diseases - cardiovascular, chronic obstructive pulmonary disease, diabetes and some cancers, which are responsible for over 50% of deaths worldwide. Potential solutions:- International governmental and non-governmental agencies are becoming increasingly concerned and ...

2011-01-01

450

Choosing sustainable consumption: a capability perspective on indicators

British Library Electronic Table of Contents (United Kingdom)

The concept of sustainable consumption (SC) has been proposed as a way of operationalising sustainable development (SD). However, until now, in view of the difficulties in conceptualising SC, emphasis has been placed mainly on a pragmatic approach. In an a-conceptual and pragmatic account of SC, many problems remain unaddressed, such as the danger of the notion becoming empty and lack of integration between the different dimensions of sustainability. In this paper, we propose that the informational space provided by the capability approach (CA) offers a conceptual framework to elaborate SC. The CA is employed here (i) to discuss the philosophical underpinnings of SC as part of a strategy for enhancing quality-of-life and (ii) to investigate the links between the different dimensions of SC....

2007-01-01

451

Child labour: ground realities of Indian labour laws

British Library Electronic Table of Contents (United Kingdom)

There has been growing international consensus on issues related to child labour - evident in various declarations, platforms, conventions, programmes of action etc. Child labour is the economic exploitation of children, or performance of any work that is likely to be hazardous or to interfere with the child's health or physical, mental, spiritual, moral or social development. Poverty is the principal cause of child labour. Mostly the children work to support their families and also for their own survival. Paradoxically, however, child labour further aggravates the poverty syndrome as it usually deprives the children of education and opportunity to acquire skills for developing earning potentials. Other causes of child labour include family indebtedness, the lack or poor quality of schooli...

2011-01-01

452

Cause analysis and preventives for human error events in Daya Bay NPP

Cast in Plastic: Semiotic Plasticity and the Pragmatic Reading of Darwin

Daya Bay Nuclear Power Plant is put into commercial operation in 1994 Until 1996, there are 368 human error events in operating and maintenance area, occupying 39% of total events. These events occurred mainly in the processes of maintenance, test equipment isolation and system on-line, in particular in refuelling and maintenance. The author analyses root causes for human errorievents, which are mainly operator omission or error procedure deficiency; procedure not followed; lack of training; communication failures; work management inadequacy. The protective measures and treatment principle for human error events are also discussed, and several examples applying them are given. Finally, it is put forward that key to prevent human error event lies in the coordination and management, person in charge of work, and good work habits of staffs.

453

British Library Electronic Table of Contents (United Kingdom)

As Darwin portended but failed to develop, and of which Gould made much, the forensic evidence of evolution points toward Punctuated Equilibrium rather than Phyletic Gradualism; however Gould?s empirical postulation has long suffered from its lack of a testable theoretical basis. This is rectified by the work of Jaroslav Flegr and the Frozen Plasticity Theory, a hypothesis with striking application within semiotic theory and hence to questions of epistemology and ontology. The consequences of applying FPT within Biosemiotics is this: when any particular sign carries a great range of interpretation (semiotic polymorphism) combined with a high degree of mutually supportive referencing (semiotic pleiotropy), that sign is less likely to exhibit plasticity?less able to find new expressions capa...

2011-01-01

454

California's Proposition 15: the what and why of its defeat

CLOSURE OF THE FAST FLUX TEST FACILITY (FFTF) HISTORY & STATUS & FUTURE PLANS

This analysis of the June 8, 1976 California Nuclear Initiative was prepared by the Pacific Gas and Electric Co. The defeat of Proposition 15 in the California election was successful for several reasons. A record 70 percent of the voters in California went to the polls and 97 percent of those voted on the nuclear issue with the results showing defeat by two-to-one. Apparently, the voters perceived the Nuclear Initiative as being too drastic. The campaign for defeat of the initiative stressed the consequences of closing down existing plants and closing off the nuclear option in California, namely: higher costs, job losses, and less-desirable alternatives. The campaign waged for the Initiative seems to have suffered from weak management and lack of consistent messages.

455

Biological scarcity: looking beyond regulatory exteriors in Taiwan

In 1993, the US Department of Energy (DOE) decided to shut down the Fast Flux Test Facility (FFTF) due to lack of national missions that justified the annual operating budget of approximately $88M/year. The initial vision was to ''deactive'' the facility to an industrially and radiologically safe condition to allow long-term, minimal surveillance storage until approximately 2045. This approach would minimize near term cash flow and allow the radioactive decay of activated components. The final decontamination and decommissioning (D and D) would then be performed using then-current methodology in a safe and efficient manner. the philosophy has now changed to close coupling the initial deactivation with final D and D. This paper presents the status of the facility and focuses on the future challenge of sodium removal.

2006-02-24

456

British Library Electronic Table of Contents (United Kingdom)

Research and bioethical policies are increasingly seen to facilitate, rather than to impede, scientific progress. Bioethical structures, nonetheless, often fail to account for or to shape the specific social surrounds in which scientific research is conducted. In Taiwan, a perceived shortage in human biological donations threatens to hamper stem cell research progress. This paper considers the stalled national biobank project and the lack of a reliable embryo supply for stem cell research, and suggests that one must look beyond regulatory structures in seeking explanations for such shortages. Specific aspects of Taiwan's democratization and social changes combine with problematic relations between patients and physicians to shape the terrain upon which human biologicals are given or withhe...

2011-01-01

457

Barriers to the ''key supplierization'' of the firm

British Library Electronic Table of Contents (United Kingdom)

The phenomenon of key supply management (KSM) in business companies is far less investigated than the phenomenon of key account management (KAM) which beneficiates, both in practice and in an academic context, from a growing interest. This article is based on the empirical analysis of a sample of 10 international companies which have recently launched KSM programmes or are currently working on launching such programs. It examines the difficulties these companies come up against when implementing such programmes and proposes to organize these difficulties around three dimensions: 1) the difficulties in implementing real supplier portfolio approaches; 2) the narrow view of value co-creation with suppliers, and 3) the persistent lack of integration of the purchasing function with other intern...

2011-01-01

458

Automating Frame Analysis

Anaerobic treatment of biodiesel by-products in a pilot scale reactor

Frame Analysis has come to play an increasingly stronger role in the study of social movements in Sociology and Political Science. While significant steps have been made in providing a theory of frames and framing, a systematic characterization of the frame concept is still largely lacking and there are no rec-ognized criteria and methods that can be used to identify and marshal frame evi-dence reliably and in a time and cost effective manner. Consequently, current Frame Analysis work is still too reliant on manual annotation and subjective inter-pretation. The goal of this paper is to present an approach to the representation, acquisition and analysis of frame evidence which leverages Content Analysis, In-formation Extraction and Semantic Search methods to provide a systematic treat-ment of a Frame Analysis and automate frame annotation.

2008-04-01

459

British Library Electronic Table of Contents (United Kingdom)

In this work, long-term operation of a pilot scale mixed anaerobic reactor processing crude glycerol and rapeseed meal is discussed. These materials are generated as by-products of biodiesel production. Mixed reactor was operated under mesophilic conditions for the period of 654 days. Total cumulative production of biogas reached 379 m3 (at atmospheric pressure and ambient temperature). Maximum volumetric loading achieved during the operation was 2.17 kg m?3 d?1 for the crude glycerol dose of 2 L. When dosing crude glycerol as a single substrate, average specific production of biogas of 0.76 m3 per L of the g-phase was achieved. The lack of nutrients in the g-phase had to be compensated by an addition of ammonium nitrogen in the form of urea into the reactor. Long term processing of crude ...

2011-01-01

460

An analysis of cropland carbon sequestration estimates for North Central Monana

British Library Electronic Table of Contents (United Kingdom)

A pilot cropland carbon sequestration program within north central Montana has allowed farmers to receive carbon credit for management adjustments associated with changing from tillage-based agricultural systems to no-till. Carbon credit can also be obtained by adopting conservation reserve, where cropland is planted into perennial vegetation. Summer fallowing is also considered within the crediting process as credit is not given in years that a field is left un-vegetated. The carbon sequestration program has been advocated as a means to mitigate climate change while providing an added source of income for Montana farmers. There is lack of data, however, pertaining to the percentage of lands within this region that have not converted to no-till management, lands under certain crop intensit...

2011-01-01

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461

Amino acid substitutions in inherited albumin variants from Amerindian and Japanese populations

Actuarial risk of isolated CNS involvement in Ewing's sarcoma following prophylactic cranial irradiation and intrathecal methotrexate

The authors report an effort to determine the basis for the altered migration of seven inherited albumin variants detected by one-dimensional electrophoresis in population surveys involving tribal Amerindians and Japanese children. An amino acid substitution has thus far been determined for four of the variants. The randomness in the albumin polypeptide of these and the other sixteen independently ascertained amino acid substitutions of albumin and proalbumin thus far established was analyzed; the clustering of eight of these at two positions in the six-amino acid propeptide sequence seems noteworthy. By comparison with other proteins studied by electrophoresis, albumin exhibits average variability. It is a paradox that individuals who, for genetic reasons, lack albumin exhibit no obvious ill effects; yet, electrophoretic variants of albumin are no more numerous than are variants of proteins, the absence of which results in severe disease.

462

Activation of a multisensory, multifunctional nucleus in the zebrafish midbrain during diverse locomotor behaviors

Records of 154 patients with Ewing's sarcoma treated at the National Cancer Institute were reviewed to assess the incidence and risk of developing isolated central nervous system (CNS) Ewing's sarcoma. Sixty-two of the 154 patients had received CNS irradiation and intrathecal (i.t.) methotrexate as part of their initial therapy to prevent the occurrence of isolated CNS Ewing's sarcoma. The risk of developing isolate CNS Ewing's sarcoma was greatest within the first two years after diagnosis and was approximately 10%. The overall risk of CNS recurrence in the group of patients receiving DNS treatment was similar to the group receiving no therapy directed to the CNS. The occurrence of isolated CNS involvement was not prevented by the use of CNS irradiation and i.t. methotrexate. Because of a lack of efficacy to the CNS irradiation regimen, current treatment regimens do not include therapy directed to CNS.

463

British Library Electronic Table of Contents (United Kingdom)

Action potentials from the brain control the activity of spinal neural networks to produce, by as yet unknown mechanisms, a variety of motor behaviors. Particularly lacking are details on how identified descending neurons integrate diverse sensory inputs to generate specific locomotor patterns. We have examined the operations of the principal neurons in an intriguing midbrain nucleus, the nucleus of the medial longitudinal fasciculus (nMLF), in the larval zebrafish. The nMLF is the most rostral grouping of neurons that projects from the brain well into the spinal cord of teleost fishes, yet there is little direct physiological data available regarding its function. We report here that a distinct set of large, individually-identifiable neurons in nMLF (the MeL and MeM neurons) are activated...

2010-01-01

464

A.C.R.O. activity report 2005; ACRO rapport d'activite 2005

A-15 compounds as solid solutions of elements

The A.C.R.O. is an association law 1901 declared at the Calvados prefecture at the date of 14. october 1986 and registered as environment protection. It was created, by more than 900 persons, in the months following the Chernobylsk accident in reaction to a lack of information and means of independent radiation monitoring. The particularity of the association is to own a laboratory of radioactivity analysis. Since the end of the nineties, the concerns include the natural sources of irradiation as the radon and apply to the consequences, out of nuclear industry, of the use of ionizing radiation or radioactive matter. On this last point, the affair of the orphan industrial site Bayard at Saint-Nicolas-d'Aliermont, massively contaminated by radium-226 devoted to the fabrication of alarm clocks, and the appearance of exemption threshold in the European law are elements at the origin of this evolution. (N.C.)

2006-07-01

465

A-15 compounds as solid solutions of elements

Experimental data on A-15 binary phases (the lattice parameter dependence on composition, phase diagrams, etc.) have been considered and the so-called ''compounds with A-15 structure'' are shown to be solid solutions of element substitution in the structure of A-15 type. Values of lattice parameter and atomic volume of A-15 modifications for 21 elements have been obtained (for Zr, W, Nb, Mo, V in particular). There has been shown the possibility of calculation of atomic volumes and lattice parameters of A-15 binary phases at the lack of direct experimental data. The essential role of atomic volume relations of different phases has been observed for the estimation of stability conditions of A-15 phase.

1984-09-01

466

A novel accelerated oxidative stability screening method for pharmaceutical solids

Experimental data on A-15 binary phases (the lattice parameter dependence on composition, phase diagrams, etc.) have been considered and the so-called ''compounds with A-15 structure'' are shown to be solid solutions of element substitution in the structure of A-15 type. Values of lattice parameter and atomic volume of A-15 modifications for 21 elements have been obtained (for Zr, W, Nb, Mo, V in particular). There has been shown the possibility of calculation of atomic volumes and lattice parameters of A-15 binary phases at the lack of direct experimental data. The essential role of atomic volume relations of different phases has been observed for the estimation of stability conditions of A-15 phase.

467

British Library Electronic Table of Contents (United Kingdom)

Abstract Despite the fact that oxidation is the second most frequent degradation pathway for pharmaceuticals, means of evaluating the oxidative stability of pharmaceutical solids, especially effective stress testing, are still lacking. This paper describes a novel experimental method for peroxide-mediated oxidative stress testing on pharmaceutical solids. The method utilizes urea-hydrogen peroxide, a molecular complex that undergoes solid-state decomposition and releases hydrogen peroxide vapor at elevated temperatures (e.g., 30C), as a source of peroxide. The experimental setting for this method is simple, convenient, and can be operated routinely in most laboratories. The fundamental parameter of the system, that is, hydrogen peroxide vapor pressure, was determined using a modified spect...

2011-01-01

468

A hybrid approach based on SERVQUAL and fuzzy TOPSIS for evaluating transportation service quality

British Library Electronic Table of Contents (United Kingdom)

Managing service quality is vital to retain customer satisfaction and augment revenues for any business organization. Often it is difficult to assess service quality due to lack of quantifiable measures and limited data. In this paper, we present a hybrid approach based on SERVQUAL and fuzzy TOPSIS for evaluating service quality of urban transportation systems. The proposed approach consists of three steps. The first step involves development of a SERVQUAL based questionnaire to collect data for measuring transportation service quality. The participants provide linguistic assessments to rate the service quality criteria and the alternatives. In step 2, the linguistic ratings are combined through fuzzy TOPSIS to generate an overall performance score for each alternative. The alternative wit...

2011-01-01

469

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

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

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

470

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

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

471

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

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

472

The Origin of Life from Primordial Planets

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

473

The 2001 Superoutburst of WZ Sagittae

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

474

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

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

475

Role of accelerator mass spectrometry in biological dosimetry

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 ...

476

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

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

477

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

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 ...

478

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

479

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

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

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

480

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

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

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481

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

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' ...

482

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

483

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

484

Isolation of fetal DNA from nucleated erythrocytes in maternal blood

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

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

485

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

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

486

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

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 ...

487

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

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

488

Genotoxic effects of sunlight-activated waste waters

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 ...

489

Evolutionary dynamics of Newcastle disease virus

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

490

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

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

491

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

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

492

Characterization of mal recombination plasmids cloned in Streptococcus pneumoniae

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

493

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

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

494

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

495

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

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

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

496

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

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

497

The glacial inception as recorded in the NorthGRIP Greenland ice core: timing, structure and associated abrupt temperature changes

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

498

Role of mitochondria in sulfolipid biosynthesis by Euglena chloroplasts

The mechanisms involved in the glacial inception are still poorly constrained due to a lack of high resolution and cross-dated climate records at various locations. Using air isotopic measurements in the recently drilled NorthGRIP ice core, we show that no evidence exists for stratigraphic disturbance of the climate record of the last glacial inception ({proportional_to}123-100 kyears BP) encompassing Dansgaard-Oeschger events (DO) 25, 24 and 23, even if we lack sufficient resolution to completely rule out disturbance over DO 25. We quantify the rapid surface temperature variability over DO 23 and 24 with associated warmings of 10{+-}2.5 and 16{+-}2.5 C, amplitudes which mimic those observed in full glacial conditions. We use records of {delta}{sup 18}O of O{sub 2} to propose a common timescale for the NorthGRIP and the Antarctic Vostok ice cores, with a maximum uncertainty of 2,500 years, and to examine the interhemispheric sequence of events ...

2006-02-01

499

Guidebook to financing CDM projects

Sulfate activation occurs in Euglena mitochondria the authors now find that the sulfate activating enzymes are absent from Euglena chloroplasts. Cells of mutant W/sub 10/BSmL lacking plastids also lack detectable sulfolipid (SL) when grown on /sup 35/SO/sub 4//sup 2 -/ indicating that SL is absent from the mitochondria and is exclusively in the plastids. Plastids alone will convert /sup 35/S-cysteine to /sup 35/SL in the presence of ATP and Mg/sup 2 +/; light is stimulatory. Under similar conditions, chloroplasts and mitochondria incubated together convert /sup 35/SO/sub 4//sup 2 -/ to plastid-localized /sup 35/SL but either organelle incubated alone fails to effect this conversion. Unlabeled cysteine blocks SL labeling from sulfate in the mixed incubation; since cysteine is formed from sulfate by Euglena mitochrondria, cysteine (and other compounds) may move from the mitochondrion to the chloroplast to provide the sulfo group for SL formation. ...

1987-04-01

500