UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

Energy Technology Data Exchange (ETDEWEB)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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...

Energy Technology Data Exchange (ETDEWEB)

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

International Nuclear Information System (INIS)

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

UK PubMed Central (United Kingdom)

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

British Library Electronic Table of Contents (United Kingdom)

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

UK PubMed Central (United Kingdom)

A fluid-phase immunoradiometric assay has been developed which identifies an antigen on the Factor VIII (antihemophilic factor) procoagulant protein. This sensitive and quantitative assay is not influenced...Full Text Available

International Nuclear Information System (INIS)

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

KoreaScience (Korea)

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UK PubMed Central (United Kingdom)

BackgroundAs long-term nursing home care is likely to increase with the aging of the population, identifying chronic medical conditions is of particular interest. Although need factors...Full Text Available

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...

UK PubMed Central (United Kingdom)

The ETS proteins are a family of transcription factors (TFs) that regulate a variety of biological processes. We made genome-wide analyses to explore the classification of the ETS gene family. We identified...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

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

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...

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 ...

International Nuclear Information System (INIS)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

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

UK PubMed Central (United Kingdom)

The protozoan parasite Trypanosoma cruzi is the etiologic agent of Chagas disease, a neglected tropical infection that affects millions of people in the Americas. Current chemotherapy...Full Text Available

Science.gov (United States)

This book chapter discusses sugarcane culture and history, describes arthropod biologies and injury, and identifies sugarcane pest management factors to consider for people interested in commercial sugarcane production. Arthropod groups include 10 orders and 40 families. Sugarcane pest management ...

UK PubMed Central (United Kingdom)

This study identified clinical (e.g., etiology) and demographic factors related to prosthesis use in persons with upper- and lower-limb amputation (ULA and LLA, respectively) and the effect...Full Text Available

UK PubMed Central (United Kingdom)

Study objectives:To verify the existence of a symptomatic form of restless legs syndrome (RLS) secondary to multiple sclerosis (MS) and to identify possible associated risk factors.Design:Prospective,...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available

UK PubMed Central (United Kingdom)

AIM: To identify a method for efficient large-scale purification of functional hepatitis B virus polymerase (HBV-Pol) without addition of cellular factors.METHODS: Full-length HBV-Pol (843 amino...Full Text Available

UK PubMed Central (United Kingdom)

A goal of our research is to identify biochemical factors that underlie the susceptibility of bone marrow cell populations to benzene metabolites so as to develop a mechanistically based chemoprotective...Full Text Available

UK PubMed Central (United Kingdom)

Humanin (HN), a 24-residue peptide, was identified as a novel neuroprotective factor and shows anti-cell death activity against a wide spectrum of Alzheimer's disease (AD)-related cytotoxicities, including...Full Text Available

Energy Technology Data Exchange (ETDEWEB)

The aim of this study is to develop the methodology which enables to identify the mechanical properties of element such as stress intensity factor by using the AE parameters. Considering the multivariate and nonlinear properties of AE parameters such as ringdown count, rise time, energy, event duration and peak amplitude from fatigue cracks of machine element the principal component regression(PCR) and artificial neural network(ANN) models for the estimation of stress intensity factor were developed and validated. The AE parameters were found to be very significant to estimate the stress intensity factor. Since the statistical values including correlation coefficients, standard mr of calibration, standard error of prediction and bias were stable, the PCR and ANN models for stress intensity factor were very robust. The performance of ANN model for unknown data of stress intensity ...

DEFF Research Database (Denmark)

Udgivelsesdato: 2006/8

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

Energy Technology Data Exchange (ETDEWEB)

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

Energy Technology Data Exchange (ETDEWEB)

In many applications, the experimenter has limited options about what factor combinations can be chosen for a designed study. Consider a screening study for a production process involving five input factors whose levels have been previously established. The goal of the study is to understand the effect of each factor on the response, a variable that is expensive to measure and results in destruction of the part. From an inventory of available parts with known factor values, we wish to identify a best collection of factor combinations with which to estimate the factor effects. Though the observational nature of the study cannot establish a causal relationship involving the response and the factors, the study can increase understanding of the underlying process. The study can also help determine where investment should be ...

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...

Energy Technology Data Exchange (ETDEWEB)

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

International Nuclear Information System (INIS)

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

Science.gov (United States)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

Energy Technology Data Exchange (ETDEWEB)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

Science.gov (United States)

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

UK PubMed Central (United Kingdom)

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

Energy Technology Data Exchange (ETDEWEB)

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

British Library Electronic Table of Contents (United Kingdom)

Aim To better define the indications for adrenalectomy for adrenal metastasis we have analysed factors predicting survival in our institutional series. Methods A consecutive series of 30 patients undergoing adrenalectomy for metastasis (1996-2007), excluding patients with simultaneous ipsilateral renal cell carcinoma (RCC), was studied. Metastases were regarded as synchronous (6 mo), depending on the interval after primary surgery. Survival was calculated from time of adrenalectomy and factors influencing survival were identified. Results The tumour diagnoses were RCC n = 9, malignant melanoma n = 5, non-small-cell lung cancer n = 5, colorectal carcinoma n = 4, foregut carcinoid n = 2, adrenocortical carcinoma, breast cancer, hepatocellular carcinoma, urothelial c...

British Library Electronic Table of Contents (United Kingdom)

Objective: Atherosclerosis is an inflammatory disease, modulated by plaque stabilizing and de-stabilizing cell populations such as infiltrating monocytes and vascular smooth muscle cells (vSMCs). Transcription factors regulating proliferation and differentiation of atherosclerosis relevant cell types are of interest in this context. The forkhead box transcription factor FoxP1 modulates monocyte differentiation. We studied FoxP1 expression in atherosclerotic tissue, correlated FoxP1 expression with plaque characteristics and identified associations between FoxP1 and plaque proteins. Methods: 116 Atherosclerotic plaques from carotid endarterectomy samples were histologically classified (fibrous, fibroatheromatous, atheromatous) and subjected to semi-quantitative protein analysis. Macrophage,...

British Library Electronic Table of Contents (United Kingdom)

BackgroundAlthough self-expandable metal stent (SEMS) insertion is widely used for relief of malignant colorectal obstructions, the immediate technical and clinical failure rates of SEMSs and the associated risk factors remain largely unknown. ObjectiveTo identify rates and factors predictive of technical and clinical failure of SEMSs when their use is attempted for the decompression of malignant colorectal obstruction. DesignRetrospective chart review. SettingA tertiary-care academic medical center in South Korea. PatientsThis study involved a total of 412 patients with malignant colorectal obstruction in whom SEMS insertion was attempted. InterventionPlacement of colonic SEMSs. Main Outcome MeasurementsTechnical success and immediate and long-term clinical success rates. ResultsTechnical...

UK PubMed Central (United Kingdom)

BackgroundCoiled-coil domain containing 115 (Ccdc115) or coiled coil protein-1 (ccp1) was previously identified as a downstream gene of Fibroblast Growth Factor 2 (FGF2) highly expressed...Full Text Available

Environmental Research Database

DescriptionIron deficiency anaemia is a common problem and may be particularly important to certain groups of vegetarians. This project investigates isolating and identifying iron-binding constituents of meat digests using human Caco-2 cell lines. Stable isotope techniques used to test whether one or more of these compounds enhance iron absorpion in vivo and could therefore be added to vegetarian products to imporve iron nutrition.

British Library Electronic Table of Contents (United Kingdom)

Abstract The success of software projects is quite subjective in nature and is fettered by many risks, the perception of which varies from individual to individual and largely depends on the demographic characteristics of the executives and even the characteristics of the project. This study aims to identify and gauge the software risk dimensions and analyze the differences of perception among executives toward software risks. The contributions of this study untangle the issues underlying risks in the software industry and associates these issues with the perception of the -human- factor present in the industry.

UK PubMed Central (United Kingdom)

To understand how DEXD/H-box proteins recognize and interact with their cellular substrates, we have been studying Prp28p, a DEXD/H-box splicing factor required for switching the U1 snRNP with the U6...Full Text Available

Science.gov (United States)

A series of studies conducted to identify the factors that block and unblock problem solving is described. Through the construction of an isomorph of the classic "water jar" problems developed by A. S. Luchins (1942) as a dynamic graphic micro-world, several factors involved in producing blocked states were identified. Subjects included 10 individuals and 10 pairs of subjects. By comparing the behavior of individuals tackling the "missionaries and cannibals" problem to that of pairs of subjects solving this problem, a study identified means by which problem solvers operating in a social context are able to overcome blocks that discourage individuals. These studies point to the importance of "reflection" (evaluation of problem-solving results) for flexible problem solving. This research suggests that teaching students to analyze what they have done will help them develop flexibility ...

International Nuclear Information System (INIS)

The purpose of organization and management development activities in the commercial nuclear power industry is to foster high levels of power plant performance and safety through improved human performance. The NRC has been working to develop assessment tools to assay the effects of organizational factors on plant safety. The utility industry has been working on initiatives targeting individual accountability, the improvement of plant performance and the elimination of the items identified through the NRC assessment process. Organization and management activities do not focus on industry organizational charts, but on the personnel processes and dimensions (factors) that affect safety and economic performance. As individual terms these activities are often combined and referred to as organizational factors. As an area of study, organizational factors has become more prominent as the ...

International Nuclear Information System (INIS)

Constitutive activation of the oncogenic transcription factor STAT3 frequently occurs in various human malignancies. STAT3 activation involves dimerization via intermolecular pTyr-SH2 interaction. Thus, antagonizing this interaction is a feasible approach to inhibit STAT3 activation for cancer therapy. In order to identify selective STAT3 inhibitors, we developed a biochemical HTS system based on AlphaScreen technology, which measures the abilities of test compounds to antagonize pTyr-SH2 interactions. We screened our chemical libraries using this system and identified 5,15-diphenylporphyrin (5,15-DPP) as a selective STAT3-SH2 antagonist. Selective inhibition of STAT3 nuclear translocation and DNA biding activity was observed in cells treated with 5,15-DPP. IL-6-dependent dimerization of STAT3, c-myc promoter binding and c-myc protein expression were all suppressed by 5,15-DPP, whereas no decrement in either expression or ...

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Background: EGFR (epidermal growth factor receptor) and VEGF (vascular endothelial growth factor) inhibitors confer clinical benefit in metastatic colorectal cancer when combined with chemotherapy. An emerging strategy to improve outcomes in rectal cancer is to integrate biologically active, targeted agents as triple therapy into chemoradiation protocols. Material and methods: cetuximab and bevacizumab have now been incorporated into phase I-II studies of preoperative chemoradiation therapy (CRT) for rectal cancer. The rationale of these combinations, early efficacy and toxicity data, and possible molecular predictors for tumor response are reviewed. Computerized bibliographic searches of Pubmed were supplemented with hand searches of reference lists and abstracts of ASCO and ASTRO meetings. Results: the combination of cetuximab and CRT can be safely applied without dose compromises of the respective treatment components. Disappointingly low ...

International Nuclear Information System (INIS)

The purpose of this experimental study is to investigate the micromechanical fatigue behavior, in terms of slip nature and preferential cracking sites, of a commercial #alpha#/#beta#-forged Ti-6Al-4V alloy. Electron backscattering diffraction is extensively used to identify the deformation (prismatic, basal, pyramidal slip) and crack formation modes activated by fatigue at the surface of several hundred primary #alpha# nodules. Some fatal crack formation sites are also characterized. Cracking in basal planes is identified as the most critical damage mode leading to fracture. An explanation is proposed which involves the resolved shear stress, taking into account the Schmid factor and the normal stress in relation to the elastic anisotropy of the #alpha#-phase. Finally, the spatial distribution of the secondary cracks is analyzed according to the crystallographic textures (macrozones) present on a mesoscopic scale in the ...

British Library Electronic Table of Contents (United Kingdom)

The dramatic increase in diagnostic rates of bipolar disorder in children and adolescents in the USA has led to an intense interest in the phenomenology of the disorder. Here we present data from a newly-developed instrument to assess episodic mania-like symptoms in youth in a large population-based sample (N?=?5326) using parent- and self-report. We found that a substantial proportion of children screened positive for having episodes of ?going high? and were at an increased risk for morbidity and impairment. Using factor analysis, we identified that episodic mania-like symptoms comprised two dimensions: An under-controlled dimension that was associated with significant impairment, and a low-risk exuberant dimension. Using latent class analysis, we identified a small group of children scor...

KoreaScience (Korea)

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UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

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Science.gov (United States)

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

UK PubMed Central (United Kingdom)

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

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

UK PubMed Central (United Kingdom)

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

Science.gov (United States)

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

International Nuclear Information System (INIS)

This is the first volume of a two-volume report. Volume 2 will be published at a later date. This report presents the results of a research project conducted by Brookhaven National Laboratory for the United States Nuclear Regulatory Commission, Office of Nuclear Regulatory Research. The purpose of the project was to develop a general methodology to be use in the assessment of the organizational factors which affect performance reliability (safety) in a nuclear power plant. The research described in this report includes the development of the Nuclear Organization and Management Analysis Concept (GNOMIC). This concept characterizes the organizational factors that impact safety performance in a nuclear power plant and identifies some methods for systematically measuring and analyzing the influence of these factors on safety performance. This report is divided into two parts; Part 1 presents an overview of ...

British Library Electronic Table of Contents (United Kingdom)

Aim.- To identify what determinants influence the prevalence and accuracy of nursing diagnosis documentation in clinical practice. Background.- Nursing diagnoses guide and direct nursing care. They are the foundation for goal setting and provide the basis for interventions. The literature mentions several factors that influences nurses- documentation of diagnoses, such as a nurse-s level of education, patient-s condition and the ward environment. Design.- Systematic review. Method.- MEDLINE and CINAHL databases were searched using the following headings and keywords: nursing diagnosis, nursing documentation, hospitals, influence, utilisation, quality, implementation and accuracy. The search was limited to articles published between 1995-October 2009. Studies were only selected if they were...

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This article identifies the imperatives behind the need to move away from teaching based on the transmission of a lot of facts to teaching that enables students to become lifelong learners. It reminds us that the over-riding goal is an education process that maximizes the ability of teachers to teach well and of students to learn effectively. It argues that the necessary reform process can only be successful if the three components of an education programme--the curriculum, teaching strategies and assessment--are reformed simultaneously to ensure that each is designed to produce more effective teaching and learning. It points to the literature that tells us what we know about factors affecting student behaviour and, in particular, notes the crucial factor of student perception of the requirement of the assessment regime. It recommends that Biggs' model of constructive alignment is used as the organizing principle ...

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...

British Library Electronic Table of Contents (United Kingdom)

Mapping the distribution of invasive alien plant species is significant for testing ecological hypotheses and for guiding effective management. Little is known about the distribution of invasive plants at landscape scale, and the factors controlling their dispersal and establishment are still poorly understood. This is the case for Rosa rugosa, an invasive shrub with negative effects on biodiversity in dune ecosystems of NW Europe. The aim of the study was to identify the factors which determine the distribution of R. rugosa in coastal dunes. In a large semi-natural dune area of NW Denmark (2364ha) all patches of the species (1321, 1.3-59.1m2) were GPS mapped. Patch distribution was GIS analysed, based on aerial photographs and vegetation maps. The distance of R. rugosa from the most consp...

Energy Technology Data Exchange (ETDEWEB)

The use of electricity is indispensable to modern life. As Macao Special Administrative Region becomes a gaming and tourism center in Asia, modeling the consumption of electricity is critical to Macao's economic development. The purposes of this paper are to conduct an extensive literature review on modeling of electricity consumption, and to identify key climatic, demographic, economic and/or industrial factors that may affect the electricity consumption of a country/city. It was identified that the five factors, namely temperature, population, the number of tourists, hotel room occupancy and days per month, could be used to characterize Macao's monthly electricity consumption. Three selected approaches including multiple regression, artificial neural network (ANN) and wavelet ANN were used to derive mathematical models of the electricity consumption. The accuracy of these models was ...

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Gas-insulated systems employing SF/sub 6/ are utilized in a variety of applications in power delivery systems. Because electric arcs, sparks or corona can decompose SF/sub 6/ into byproducts having chemical properties different from SF/sub 6/, environmental concerns arise regarding inadvertent human exposures to electrically-decomposed SF/sub 6/. Biological assays in our laboratory using mammalian cell culture systems have revealed that spark-decomposed SF/sub 6/ produces cell death, and the extent of cell killing increases with increasing spark energy. Chemical analysis of spark-decomposed SF/sub 6/ has identified the major decomposition pathways and byproducts, but biological testing of individual or byproduct mixtures has indicated that these major decomposition products do not contribute, in a significant fashion, to the cell lethality seen in our assays. Further experiments have suggested that S/sub 2/F/sub 10/ may be produced under our decomposition ...

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Because every cell within the body has the same genetic information, a significant problem in biology is to understand how cells within a tissue express genes selectively. A sophisticated network of physical and biochemical signals converge in a highly orchestrated manner to bring about the exquisite regulation that governs gene expression in diverse tissues. Thus, the ultimate decision of a cell to proliferate, express tissue-specific genes, or apoptose must be a coordinated response to its adhesive, growth factor, and hormonal milieu. The unifying hypothesis examined in this overview is that the unit of function in higher organisms is neither the genome nor the cell alone but the complex, three-dimensional tissue. This is because there are bidirectional connections between the components of the cellular microenvironment (growth factors, hormones, and extracellular matrix) and the nucl2048 These connections are made via membrane-bound ...

British Library Electronic Table of Contents (United Kingdom)

The effective integration of technology into the teaching and learning of mathematics remains one of the critical challenges facing contemporary tertiary mathematics. This article reports on some significant findings of a wider study investigating the use of technology in undergraduate mathematics. It first discusses a taxonomy developed to describe and compare technology use within individual courses and departments that identifies a complex range of factors, summarized under six defining characteristics of an integrated technology mathematics curriculum (ITMC). An instrument for a simple comparison of technology use employing the elements of this taxonomy is provided. It then presents evidence gathered from an observational study of technology implementation at The University of Auckland...

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System-level-operational testing of the ETX-II test-bed electric vehicle is described and the results discussed. Because the traction battery is a major factor in the performance of an electric vehicle, previously reported work on the sodium-sulfur battery designed for use with the ETX-II is reviewed in detail. Chassis dynamometer performance of the test-bed vehicle met or exceeded design goals and compared reasonably well with SIMPLEV computer modeling results. Areas are identified wherein further work is needed to establish a firmer basis for comparison of the simulation and the observed results.

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

Background. Through PSA screening the rate of prostate cancers detected at an early stage has increased significantly; thus a decrease in mortality can be expected in the near future. Despite all scientific efforts, however, the molecular mechanisms underlying the development and progression of prostate cancer remain poorly understood. Prostate cancer is a disease of aging men and epidemiological evidence supports a major contribution to its development through diet, lifestyle and environmental factors. Genetic instability is the basic phenomenon of tissue cell cancerisation. This instability can be hereditary or due to mutations and other chromosomal aberrations acquired during life. In recent years a large number of interesting data have been collected which show the relationships between focal atrophy and genetic instability of the prostate epithelia. Atrophy can be the result of prostatitis, ischemia as well as of oxidative stress (diet). ...

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The DNA sequence motif ATTTGCAT (octamer) or its inverse complement has been identified as an evolutionarily conserved element in the promoter region of immunoglobulin genes. Two major DNA-binding proteins that bind in a sequence-specific manner to the octamer DNA sequence have been identified in mammalian species--a ubiquitously expressed protein (Oct-1) and a lymphoid-specific protein (Oct-2). During characterization of the promoter region of the chicken immunoglobulin light chain gene, the authors identified two homologous octamer-binding proteins in chicken B cells. when the cloning of the human gene for Oct-2 revealed it to be a member of a distinct family of homeobox genes, they sought to determine if the human Oct-2 cDNA could be used to identify homologous chicken homeobox genes. Using a human Oct-2 homeobox-specific DNA probe, they were able to identify 6-10 ...

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In this paper, the wavefunction of the universe with a tunneling boundary condition is considered in the context of the Brans-Dicke-type scalar-tensor theory with matter. The matter may be interpreted as a D-particle (or D0-brane) in string theory when the Brans-Dicke parameter {omega} is -1. We study two simple examples. The first example, the {gamma}=0 (matter) case, has a scale factor duality even if the low energy string action is coupled to matter. The universe undergoes quantum transition from super-inflationary (pre-big-bang) to deflationary (post-big-bang) phase. We calculate the transition rate by solving the Wheeler-DeWitt equation and find that it is non-vanishing. The two phases are disconnected classically. The second example is the {gamma}=1/3(radiation) case. With the help of earlier work this matter can be identified with a D0-brane in string theory. In this case, due to the absence of the scale factor ...

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Many assays for oncogenic transformation have been developed ranging from those in established rodent cell lines where morphological alteration is scored, to those in human cells growing in nude mice where tumor invasiveness is scored. In general, systems that are most quantitaive are also the least relevant in terms of human carcinogenesis and human risk estimation. The development of cell culture systems has made it possible to assess at the cellular level the oncogenic potential of a variety of chemical, physical and viral agents. Cell culture systems afford the opportunity to identify factors and conditions that may prevent or enhance cellular transformation by radiation and chemicals. Permissive and protective factors in radiation-induced transformation include thyroid hormone and the tumor promoter TPA that increase the transformation incidence for a given dose of radiation, and retinoids, selenium, vitamin E, and ...

Science.gov (United States)

To illustrate the implementation of a bottom-up approach to the study of culture in health disparities, this article describes the development of a cultural cancer screening scale (CCSS) using mixed methodologies. The aim was to identify cultural factors relevant to breast and cervical cancer screening, develop an instrument to assess them and examine its preliminary psychometric properties among Latin American (Latino) and non-Latino White (Anglo) women in Southern California. Seventy-eight Latino and Anglo women participated in semi-structured interviews, which were content coded based on Triandis' methods for the analysis of subjective culture. Based on the emerging cultural elements, items relevant to cancer screening were developed and pilot tested with 161 participants. After the instrument was refined, 314 Latino and Anglo women from various socioeconomic backgrounds completed the CCSS and data were factor analyzed ...

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...

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...

Science.gov (United States)

Up to the present, the generic values of the Common cause failure (CCF) event parameters have been used in most PSA projects for the Korean NPPs. However, the CCF analysis should be performed with plant specific information to meet Category II of the ASME PRA Standard. Therefore, we estimated the Alpha factor parameters of the emergency diesel generator (EDG) for Ulchin Unit 3 by using the International Common-Cause Failure data Exchange (ICDE) database. The ICDE database provides the member countries with only the information needed for an estimation of the CCF parameters. The Ulchin Unit A3, pressurized water reactor, has two onsite EDGs and one alternate AC (AAC) diesel generator. The onsite EDGs of Unit 3 and 4 and the AAC are manufactured by the same company, but they are designed differently. The estimation procedure of the Alpha factor used in this study follows the approach of the NUREG/CR-5485. Since we did not find any qualitative ...

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During outbreaks, Microdiprion pallipes (Fall.) is the most destructive of the pine sawflies in Sweden. Its distribution includes most provinces, but damaging outbreaks have until recently occurred only in two inland areas in northern Sweden. These areas are characterised by high elevation, a harsh climate, and slow tree growth. The four recorded outbreak periods showed a 10 year periodicity. Outside these areas, a lesser outbreak occurred in 1988 to 1990, on the east coast (province of Uppland). Outbreak patterns, life history variation, and mortality factors were studied. Factors that may explain the distribution of outbreaks and the population patterns were identified.Experimental and observational evidence on the potential of various factors to influence fecundity, dispersal, and survival was evaluated. In the outbreak areas, there were few major population factors. Parasitism ...

Scientific Electronic Library Online (English)

Abstract in english The tegument surface of the adult schistosome, bounded by a normal plasma membrane overlain by a secreted membranocalyx, holds the key to understanding how schistosomes evade host immune responses. Recent advances in mass spectrometry (MS), and the sequencing of the Schistosoma mansoni transcriptome/genome, have facilitated schistosome proteomics. We detached the tegument from the worm body and enriched its surface membranes by differential extraction, before subjecting t (more) he preparation to liquid chromatography-based proteomics to identify its constituents. The most exposed proteins on live worms were labelled with impearmeant biotinylation reagents, and we also developed methods to isolate the membranocalyx for analysis. We identified transporters for sugars, amino acids, inorganic ions and water, which confirm the importance of the tegument plasma membrane in nutrient acquisition and solute balance. Enzymes, ...

International Nuclear Information System (INIS)

The product of the human GRO gene is a cytokine with inflammatory and growth-regulatory properties; GRO is also called MGSA for melanoma growth-stimulatory activity. The authors have identified two additional genes, GRO#beta# and GRO#gamma#, that share 90% and 86% identity at the deduced amino acid level with the original GRO#alpha# isolate. One amino acid substitution of proline in GRO#alpha# by leucine in GRO#beta# and GRO#gamma# leads to a large predicted change in protein conformation. Significant differences also exist in the 3' untranslated region, including different numbers of ATTTA repeats associated with mRNA instability. A 122-base-pair region in the 3' region is conserved among the three GRO genes, and a part of it is also conserved in the Chinese hamster genome, suggesting a role in regulation. DNA hybridization with oligonucleotide probes and partial sequence analysis of the genomic clones confirm that the three forms are derived from related but ...

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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.

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

CERN Document Server

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

International Nuclear Information System (INIS)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

UK PubMed Central (United Kingdom)

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

Energy Technology Data Exchange (ETDEWEB)

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

UK PubMed Central (United Kingdom)

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

CERN Document Server

The adjoint of an ocean general circulation model is used as a tool for investigating the causes of changes in ENSO SST indices. We identify adjoint Kelvin and Rossby waves in the sensitivities to sea level and wind stress at earlier times, which can be traced back for more than a year through western and weak eastern boundary reflections. Depending on the thermocline depth the first and second baroclinic modes are excited. The sensitivities to the heat flux and SST are local and decay in about a month. The sensitivities to the fluxes are converted into the influence of SST using the adjoint of a statistical atmosphere model. Focusing on SST perturbations in the index region itself, we recover, up to a scale factor, the delayed oscillator concept.

British Library Electronic Table of Contents (United Kingdom)

Purpose To evaluate disease failure patterns and overall survival (OS) of women with triple-negative (TN) breast cancer who underwent breast-conserving therapy (BCT) and to understand the relationship of TN tumors with other prognostic factors. Patients and Methods The Surveillance, Epidemiology, and End Results (SEER) registry identified 562 women diagnosed and/or treated with unilateral invasive breast cancer during 2003?2004 at three Emory hospitals. After medical record review, 193 eligible women, with all tumor types, received BCT. Primary endpoints (local, regional, and distant recurrences) and secondary endpoint (OS) were evaluated using chi-square tests and Cox proportional hazards models. Results Of the 193 women, 33 (17.1%) had TN tumors and 160 (82.9%) had non-TN tumors. Patient...

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A real-time orbit feedback system has been implemented at the Advanced Photon Source in order to meet the stringent orbit stability requirements. The system reduces global orbit motion below 30Hz by a factor of four to below 5{micro}m rms horizontally and 2{micro}m rms vertically. This paper focuses on dynamic orbit stability and describes the all-digital orbit feedback system that has been implemented at the APS. Implementation of the global orbit feedback system is described and its latest performance is presented. Ultimately, the system will provide local feedback at each x-ray source point using installed photon BPMs to measure x-ray beam position and angle directly. Technical challenges associated with local feedback and with dynamics of the associated corrector magnets are described. The unique diagnostic capabilities provided by the APS system are discussed with reference to their use in identifying sources of the underlying orbit ...

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A stable power system stabilizer (PSS) based on the inverse dynamics of the controlled system using an artificial neural network (ANN) is suggested to enhance the dynamic performances of a power system. First, an output feedback control law is driven with some conditions satisfied, which guarantees the internal stability and robustness against the asymptotically stable external disturbances. Then the control law is implemented using the inverse dynamics of the controlled plant. The inverse dynamics of the controlled plant is identified by an ANN, inverse dynamics neural network (IDNN), off-line. The pole-shifting technique and a scaling factor are introduced for the control system to meet the conditions for internal stability and robustness. The proposed controller is applied to a typical single-machine infinite-bus power system. Simulation results under various operation conditions are given which show that the proposed controller damps the ...

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The AdS/CFT correspondence is a powerful tool to study the properties of conformal QCD at strong coupling in terms of a higher dimensional dual gravity theory. The power-law falloff of scattering amplitudes in the non-perturbative regime and calculable hadron spectra follow from holographic models dual to QCD with conformal behavior at short distances and confinement at large distances. String modes and fluctuations about the AdS background are identified with QCD degrees of freedom and orbital excitations at the AdS boundary limit. A description of form factors in space and time-like regions and the behavior of light-front wave functions can also be understood in terms of a dual gravity description in the interior of AdS.

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BackgroundPeritoneal metastasis occurs in up to 30% of patients with gastric cancer. The aim of this experimental study is to develop and validate a novel ex vivo model of the human peritoneum to better identify factors involved in the development of peritoneal metastasis in order to improve its management and prognosis. MethodsPeritoneal discs harvested from hernia sacs obtained at inguinal hernia surgery were suspended in media using Teflon rings. Viability of the tissue was investigated using MTS assay, light and scanning electron microscopy (LM and SEM) over 72 h. To assess validity of the model, phenotypic changes in tumor cells were investigated. Changes in matrix metalloproteinases (MMP)-2 and -9 activities in HGC and AGS gastric adenocarcinoma cells after co-culture were investigat...

International Nuclear Information System (INIS)

A large portion of the work performed at nuclear power plants follows standardized flow paths. For example, although components on which the maintenance crew works differ from one assignment to the next, all assignments basically follow the same process: requesting, reviewing, planning, scheduling, executing, testing, and documenting the work. In general, the term open-quotes work processclose quotes is used to refer to a standardized sequence of tasks designed within the operational environment of an organization to achieve a specific goal. The predictable nature of work processes suggests that a systematic analysis can be conducted to identify the desirable design of the process and to develop performance measures with respect to the strengths and weaknesses in the process. Furthermore, because of the close relationship of the work process to plant performance and plant safety, it is believed that such an analysis will facilitate the inclusion of organizational ...

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Spindle cell sarcomas consist of tumors with different biological features, of which distant metastasis is the most ominous sign for a poor prognosis. However, metastasis is difficult to predict on the basis of current histopathological analyses. We have identified actin filament-associated protein 1-like 1 (AFAP1L1) as a candidate for a metastasis-predicting marker from the gene expression profiles of 65 spindle cell sarcomas. A multivariate analysis determined that AFAP1L1 was an independent factor for predicting the occurrence of distant metastasis (P=0.0001), which was further confirmed in another set of 41 tumors by a quantitative mRNA expression analysis. Immunohistochemical staining using paraffin-embedded tumor tissues revealed that the metastasis-free rate was significantly better...

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Statistically based experimental designs were applied to screen and optimize the bioleaching of spent hydrocracking catalyst by Penicillium simplicissimum. Eleven factors were examined for their significance on bioleaching using a Plackett-Burman factorial design. Four significant variables (pulp density, sucrose, NaNO"3, and yeast extract concentrations) were selected for the optimization studies. The combined effect of these variables on metal bioleaching was studied using a central composite design (CCD). Second-order polynomials were established to identify the relationship between the recovery percent of the metals and the four significant variables. The optimal values of the variables for maximum metals bioleaching were as follows: pulp density (4.0%, w/v), sucrose (90g/L), NaNO"3 (2...

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The carbonate rocks of the Lower Ordovician Majiagou Formation represent important hydrocarbon reservoirs in the Ordos basin in the western part of the North China plate. Cores and thin sections from more than 60 wells were examined. The main reservoir in the Majiagou Formation consists of fine crystalline dolomite, which was altered by meteoric water during an extended subaerial exposure. Three phreatic zones have been identified in the Majiagou Formation in the northern part of the basin. Oxygen isotopes and fluid inclusion microthermometry data indicates that the porosity developed during the early karst event was considerably reduced by the late-stage, coarse crystalline calcite cements that appear to be related to hydrothermal fluids during deep burial. It was concluded that the main factors that determine the porosity and permeability of these carbonate reservoirs are dolomitization, karstification, and calcite cementation.

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Nuclear generation operators are facing a challenging business environment at the beginning of the new millennium. Evolving changes in business context, competitive commercial pressures, and changes in technology have dictated recurring evaluation of operational practices and the adequacy of supporting tools, and the pursuit of opportunities for operational improvement. A key area of utility operations that has been impacted by these changes is the nuclear plant control centre. Changes to workspace layout, equipment provisions, staffing, and work organization are examples of some of the adjustments being introduced to improve operational and safety effectiveness. This paper discusses some of the key factors influencing these changes and identifies additional design principles for CANDU control centres that will enable new control centre designs and retrofits of existing control centres to remain relevant and responsive to utility needs. ...

Science.gov (United States)

The cost-effectiveness (CE) analysis presents an evaluation of the technical efficiency of pollutant control options for the proposed effluent limitations guidelines. The proposed BAT and PSES apply to six subcategories: Dissolving Kraft; Dissolving Sulfite; Bleached Papergrade Kraft; Papergrade Sulfite; Unbleached Kraft; and Semichemical. The document compares the total annualized cost incurred for each of the regulatory options within each subcategory to the corresponding effectiveness of that option in reducing the discharge of pollutants. Section Two discusses the cost-effectiveness methodology and identifies the pollutants included in the analysis and their toxic weighting factors. Section Three describes the options evaluated for each subcategory. Section Four presents the results of the CE analysis. Section Five presents a separate analysis of AOX (adsorbable organic halides).

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Mammary glands are special tissue characterized by proliferation of the epithelium, during puberty and pregnancy and by programmed cell death, during involution. In this study, apoptosis was identified by TUNEL staining and then related to cell proliferation, as determined by Ki-67 staining. The apoptotic index was at its highest at 8 days of involution, whereas the proliferation index was at its highest during lactation. Caspase-3 was immunolocalised only in mast cells and along the basal membrane in the mammary tissue at -10 days from lambing, 150 days of lactation and at 8 days of involution. This finding could indicate that caspase-3 is not involved in sheep mammary gland apoptosis, but that other proteins - such as apoptosis inducing factor (AIF) - can trigger apoptosis, through the m...

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The effects of reservoir layering and gravity segregation on nonisothermal injection and falloff tests are investigated. Results show that layering does not affect injection or falloff data if all the layers are permeable and accept fluids from the wellbore. In such cases, the average permeability, skin factor, and distance to the thermal front can be calculated using the techniques developed for homogeneous reservoirs. Special considerations have to be taken for cases where several layers are impermeable or are permeable but do not accept fluids of the well face. In the first case (impermeable layers), knowledge of the total thickness of the permeable layers is required for the existing techniques to be applied successfully. In the second case, the existing techniques cannot be applied, but characteristic responses from injection and falloff test are seen; therefore, this case can be identified easily. 13 refs., 8 figs.

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A new algorithm for the design of decentralized output feedback stabilizers for large-scale electric power systems is presented in this paper. In the proposed approach, the generators which are most effective for stabilizer applications are first identified by using participation factors. Then an efficient algorithm based on decentralized pole assignment is proposed for the determination of the parameters of the power system stabilizers which, due to the difficulty associated with the communication among the geographically dispersed generating stations in a large power system, are essentially decentralized compensators using local generator outputs as their feedback signals. The proposed method is computationally efficient and can be applied to any large-scale system. The simplicity and effectiveness of the proposed method are demonstrated by an example of stabilizer design for a practical power system.

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It is necessary to identify those measurable soil parameters which dictate the severity of the corrosion problem for coated irons and steels. When this is done, meaningful accelerated aging tests can be designed to validate the reduced corrosion rate for the planned coating. The following discussion introduces the important concepts and measurement parameters in the (a) design of accelerated aging tests, and (b) evaluation of the planned installation site for corrosion potential. Certain combinations of soil oxidation reduction potential (ORP) or electric potential (Eh), acidity (pH), fertilizer, water table, and soil hydraulic conductivity can result in severe corrosion of buried steel/iron vessels. If there are power lines nearby, additional loss of vessel material to the soil will occur. These factors are discussed.

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BACKGROUND: Glyphosate resistance has been confirmed in 58 populations of Lolium rigidum (Gaud.), a major weed of crops in southern Australia. Extensive use of glyphosate in conjunction with minimal soil disturbance has been identified as high risk for resistance to that herbicide. Land managers need a simple method for rapid assessment of the risk of resistance occurring as a result of past and proposed future management practices. Modelled on risk assessment nomographs, a simple calculator for indicating the risk of evolved glyphosate resistance in L. rigidum is described.RESULTS: The calculator uses the generations since first use and the frequency of use of glyphosate in combination with historical cultivation levels as critical factors for determining the risk of glyphosate resistance...

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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 ...

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Mechanistic models of aerosol decontamination by an overlying water pool during core debris/concrete interactions and spray removal of aerosols from a Mark I drywell atmosphere are developed. Eighteen uncertain features of the pool decontamination model and 19 uncertain features of the model for the rate coefficient of spray removal of aerosols are identified. Ranges for values of parameters that characterize these uncertain features of the models are established. Probability density functions for values within these ranges are assigned according to a set of rules. A Monte Carlo uncertainty analysis of the decontamination factor produced by water pools 30 and 50 cm deep and subcooled 0--70 K is performed. An uncertainty analysis for the rate constant of spray removal of aerosols is done for water fluxes of 0.25, 0.01, and 0.001 cm{sup 3} H{sub 2}O/cm{sup 2}-s and decontamination factors of 1.1, 2, 3.3, 10, 100, and 1000.

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This study reviews past assessments of world oil, natural gas, and oil-shale resources. It identifies the methods used in making these assessments (historical statistics, geological analogy, engineering, and probabilistic), the geographical coverage, the time horizons, and the major assumptions about such factors as discovery rates, and recovery factor. The period covered extends from the end of World War II to the end of 1980. Conclusions are presented on the current state of knowledge and understanding concerning each of these three hydrocarbon resources. Regarding world oil resources, an assumed consensus on 2000 billion barrels ultimately recoverable is, in fact, only weakly supported. Close examination of its component parts reveals widespread disagreement. World natural gas resources are even less well understood. And it is premature to venture a meaningful assessment of world oil-shale resources. Thus, our knowledge ...

Science.gov (United States)

Endoreduplication represents a cell cycle variant during which multiple rounds of DNA replication occur without subsequent chromosome separation and cytokinesis, resulting into a cellular increase of the DNA content. Although the DNA ploidy level of cells is controlled by external stimuli such as light, currently limited knowledge is available on how environmental signals regulate the endoreduplication cycle at the molecular level. Previously, we have demonstrated that the conversion from the mitotic cell cycle into an endoreduplication cycle is mediated by the atypical E2F transcription factor DEL1 that operates as a repressor of endocycle onset. Here, we identified DEL1 as a transcriptional target of the classical E2Fb and E2Fc transcription factors that antagonistically control DEL1 transcript levels through competition for a single E2F cis-acting binding site. Correspondingly with the reported opposite effect of light ...

Science.gov (United States)

The Drosophila melanogaster tissue-specific transcription factor NTF-1 was originally identified in vitro as a protein that could bind to and activate transcription from the Dopa decarboxylase (Ddc) gene. A structure-function analysis of NTF-1 led to the identification of a discrete amino-terminal activation domain. Here, we report that an NTF-1 mutant lacking the activation domain acts as a trans-dominant inhibitor of NTF-1 activation in tissue culture cells by forming inactive heterodimers with the full-length protein. Ectopically expressing this dominant-negative protein or the full-length protein in developing Drosophila embryos leads to dire developmental consequences. Overexpressing the trans-dominant NTF-1 leads to lethality, while overexpressing full-length NTF-1 results in both lethality and morphogenetic defects. Our results suggest that both the activity and the regulation of NTF-1 are critical for viability and proper development of ...

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The US Environmental Protection Agency (EPA) conducted a cost-effectiveness (CE) analysis to estimate the incremental cost of complying with the proposed effluent limitation guidelines (ELGs) for the coastal oil and gas industry (EPA 1995a). EPA`s CE analysis calculates the pounds of each pollutant that would be removed if the chosen discharge option is selected. In 1993, EPA issued final ELGs for the offshore oil and gas industry and published an offshore CE analysis. The chemical characteristics of produced water from the offshore region are essentially the same as those of produced water from the coastal region. It was surprising, therefore, that EPA chose a much longer list of pollutants and generally stricter weighting factors for the coastal CE analysis. This report reviews the data, assumptions, and analyses used in EPA`s coastal CE analysis and identifies alternate data, assumptions, and analyses that could lead to significantly ...

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Heterochromatin constitutes a significant portion of the genome in higher eukaryotes; approximately 30% in Drosophila and human. Heterochromatin contains a high repeat DNA content and a low density of protein-encoding genes. In contrast, euchromatin is composed mostly of unique sequences and contains the majority of single-copy genes. Genetic and cytological studies demonstrated that heterochromatin exhibits regulatory roles in chromosome organization, centromere function and telomere protection. As an epigenetically regulated structure, heterochromatin formation is not defined by any DNA sequence consensus. Heterochromatin is characterized by its association with nucleosomes containing methylated-lysine 9 of histone H3 (H3K9me), heterochromatin protein 1 (HP1) that binds H3K9me, and Su(var)3-9, which methylates H3K9 and binds HP1. Heterochromatin formation and functions are influenced by HP1, Su(var)3-9, and the RNA interference (RNAi) pathway. My thesis project investigates how ...

Science.gov (United States)

The objective of this paper is to reveal to what degree bio-based jet fuels (bio-jet) can reduce greenhouse gas (GHG) emissions from the US aviation sector. A model of the supply and demand chain of bio-jet involving farmers, bio-refineries, airlines, and policymakers is developed by considering factors that drive the decisions of actors (i.e. decision-makers and stakeholders) in the life cycle stages. Two kinds of feedstock are considered: oil-producing feedstock (i.e. camelina and algae) and lignocellulosic biomass (i.e. corn stover, switchgrass, and short rotation woody crops). By factoring in farmer/ feedstock producer and bio-refinery profitability requirements, land availability and suitability, as well as a time delay factor, a more realistic estimate of the level of bio-jet supply and emissions reduction can be developed under different oil price assumptions. Factors that drive bio-jet GHG ...

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An independent investigation of pipe welding leaks from the Low-Level Waste 2 (LLW2) Skid-B System for the possibilities of improper welding (IW), microbiologically influenced corrosion (MIC), sensitization, chloride pitting corrosion (CPC), and intergranular stress corrosion cracking (IGSCC) was conducted. The results show the prevailing mechanisms that caused the leaks are identified as IW, CPC, and the improper selection of weld filler material for the base metals in an environment of the North Plateau underground water. These is no evidence of MIC, sensitization, or IGSCC. The chloride pitting corrosion mechanism that took place at all the welds are also described. All the pipelines were replaced with polyvinyl chloride (PVC) for cost saving and the LLW2 Skid B System has been successfully operating since 1999. This report summarizes the findings and recommendations associated with preventive measures for future operations. The LLW2 Facility is a replacement ...

International Nuclear Information System (INIS)

The condition of spent nuclear fuel (SNF) in wet storage at ten Soviet-designed research reactors has been assessed in the light of international experience in order to identify any associated safety issues. These reactors use Al-clad UO2-Al or U-Al alloy dispersion fuels of ?20% enrichment that were fabricated in Russia; the reactors have been in operation since 1955-70. Although originally sent for reprocessing, much of the SNF generated over the last 25-30 years has been stored in fuel storage pools (FSPs) of variable water quality. The external condition of wet-stored SNF assemblies from the reactors surveyed varied from significant failure due to galvanic corrosion that was driven by poor water quality, through gradual pitting caused by slightly impure water, to a stable condition of no observable change in the oxidized Al alloy surface of the irradiated fuel. SNF stability in wet storage seems to depend on three factors: Al being the sole ...

Science.gov (United States)

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

Science.gov (United States)

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

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ABSTRACT-Here we identify release of annexin A2 into the culture medium in response to low dose X-ray radiation exposure and establish functional linkages to an established paracrine factor-mediated anchorage-independent growth response. Using a standard bicameral coculture model, we observe that annexin A2 levels associated with non-irradiated neighboring cells seeded in the lower chamber (annexin A2 silenced [shRNA] JB6 cells) are increased upon coculture with irradiated (10-50 cGy) JB6 cells seeded in the upper chamber, relative to coculture with sham exposed JB6 cells seeded in the upper chamber, suggesting that annexin A2 released into the medium is capable of communicating in a paracrine fashion. Using a previously established coculture model, we observed that the paracrine factor-mediated anchorage-independent growth response to low dose X-ray radiation is markedly reduced when irradiated annexin A2 silenced (shRNA) ...

International Nuclear Information System (INIS)

The object of this paper is to identify the key elements that impact a radiation dose at EAB (Exclusion Area Boundary). This study is based on the AST (Alternative Source Terms) as defined in Regulatory Guide 1.183. The LOCA (Loss of Coolant Accident) and the LRA (Locked Rotor Accident) are selected as limiting cases. A sensitivity analysis of accidental behavior with respect to various parameters during LOCA and LRA at Kori Unit 1 is also undertaken for the following objectives: to determine the limiting parameters, to find the impact trend of the radiation dose, and to find the safety margin between AST and TID (Technical Information Document) methodologies. This work confirms that key parameters are particulate removal rate, decontamination factor, iodine chemical form, gap fraction, partitioning factor, and the impact of isotopes group. Comparing TID with AST, the radiation dose of TID is about 80% greater than that of ...

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Background The identification of sequences that control transcription in metazoans is a major goal of genome analysis. In a previous study, we demonstrated that searching for clusters of predicted transcription factor binding sites could discover active regulatory sequences, and identified 37 regions of the Drosophila melanogaster genome with high densities of predicted binding sites for five transcription factors involved in anterior-posterior embryonic patterning. Nine of these clusters overlapped known enhancers. Here, we report the results of in vivo functional analysis of 27 remaining clusters. Results We generated transgenic flies carrying each cluster attached to a basal promoter and reporter gene, and assayed embryos for reporter gene expression. Six clusters are enhancers of adjacent genes: giant, fushi tarazu, odd-skipped, nubbin, squeeze and pdm2; three drive expression in patterns unrelated to those of ...

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 (...

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International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

International Nuclear Information System (INIS)

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

Science.gov (United States)

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

Science.gov (United States)

Myostatin is a member of the transforming growth factor-{beta} (TGF-{beta}) family and a strong negative regulator of muscle growth. Here, we present the crystal structure of myostatin in complex with the antagonist follistatin 288 (Fst288). We find that the prehelix region of myostatin very closely resembles that of TGF-{beta} class members and that this region alone can be swapped into activin A to confer signalling through the non-canonical type I receptor Alk5. Furthermore, the N-terminal domain of Fst288 undergoes conformational rearrangements to bind myostatin and likely acts as a site of specificity for the antagonist. In addition, a unique continuous electropositive surface is created when myostatin binds Fst288, which significantly increases the affinity for heparin. This translates into stronger interactions with the cell surface and enhanced myostatin degradation in the presence of either Fst288 or Fst315. Overall, we have identified ...

International Nuclear Information System (INIS)

Purpose: To assess the prevalence, significance and practical value of two recently described CT signs of instable aneurysm: the crescent sign and the periluminal halo (a low-attenuating internal layer of the thrombus around the patent lumen). Material and methods: Among the CT examination performed in the last 5 years, they retrospectively selected the nonruptured aneurysms with a diameter exceeding 4 cm (no. = 93 average diameter 5.1 cm, unenhanced images in 28 cases and enhanced in 84) and the ruptured aneurysms (no. = 16, average diameter 6.7 cm, unenhanced images in 9 cases and enhanced in 9). They studied the prevalence of the crescent and halo sing, their relationship with the aneurysm diameter, and the effect of contrast enhancement. Results: The crescent sign was identified with a statistically significant prevalence in ruptured ( 37.5 % or cases) over asymptomatic aneurysms (5.5 %); the halo had the same frequency in the 2 groups (12.5 % and 9.5 %). Both ...

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The human zinc finger protein genes (ZFX/Y) were identified as a result of a systematic search for the testis-determining factor gene on the human Y chromosome. Although they play no direct role in sex determination, they are of particular interest because they are highly conserved among mammals, birds, and amphibians and because, in eutherian mammals at least, they have active alleles on both the X and the Y chromosomes outside the pseudoautosomal region. We used in situ hybridization to localize the homologues of the zinc finger protein gene to chromosome 1 of the Australian echidna and to an equivalent position on chromosomes 1 and 2 of the playtpus. The localization to platypus chromosome 1 was confirmed by Southern analysis of a Chinese hamster [times] platypus cell hybrid retaining most of platypus chromosome 1. This localization is consistent with the cytological homology of chromosome 1 between the two species. The zinc finger protein ...

International Nuclear Information System (INIS)

We have developed a photon accumulated laser mass spectrometer that enables us to identify isomers of polychlorinated dibenzo-p-dioxin and polychlorinated dibenzofuran. This system is comprised of a high temperature (230 deg. C) pulsed gas injector (PGI), multimirror multipath system (MMS), and the conventional time-of-flight mass spectrometer. The PGI induces the formation of a choked supersonic jet gas pulse that cools down to a temperature to restrain fragmentation and reduces vibrational and rotational thermal noises. The results suggest that the excited lifetime numbers and fragment dynamics of these species change completely with jet cooling of molecules. The MMS enhances the soft ionization efficiency (by a factor of 1000 over a single path system) through photon accumulation by extending the irradiation duration (to about 40 ns) and volume, and it further minimizes fragmentation by carefully controlling the laser intensity distribution ...

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The economic prospects for magnetic fusion energy can be dramatically improved if for the same total power output the fusion neutron first-wall (FW) loading and the system power density can be increased by factors of 3 to 5 and 10 to 30, respectively. A number of compact fusion reactor embodiments have been proposed, all of which would operate with increased FW loadings, would use thin (0.5 to 0.6 m) blankets, and would confine quasi-steady-state plasma with resistive, water-cooled copper or aluminum coils. Increased system power density (5 to 15 MWt/m/sup 3/ versus 0.3 to 0.5 MW/m/sup 3/), considerably reduced physical size of the fusion power core (FPC), and appreciably reduced economic leverage exerted by the FPC and associated physics result. The unique materials requirements anticipated for these compact reactors are outlined against the well documented backdrop provided by similar needs for the mainline approaches. Surprisingly, no single materials need that ...

International Nuclear Information System (INIS)

The primary aim was to evaluate delayed contrast-enhanced MRI in depicting perineural spread of hilar cholangiocarcinoma (CCC) and consequently to determine the capability of MRI/MRCP for staging CCC. Fifteen patients that underwent MRI/MRCP and surgical treatment were retrospectively included. Two radiologists evaluated MR images to assess delayed periductal enhancement, extent of bile duct stenosis, liver parenchymal and vascular involvement and presence of liver atrophy. An agreement between delayed enhancement of the bile duct walls and perineural neoplastic spread showed a very good correlation factor (0.93). The overall accuracy in detecting biliary neoplastic invasion was higher for delayed T1-weighted images (93.3%) than for the MRCP images (80%), and T1-delayed image increased the MR accuracy in assessing the neoplastic resectability (p < 0.05). MRI correctly predicted vascular involvement in 73% and liver involvement in 80% of the cases. The number of ...

International Nuclear Information System (INIS)

Over the past few years, NPCIL has performed comprehensive Level-1 Probabilistic Safety Assessment (PSA) for a 220 MWe Pressurised Heavy Water Reactor (PHWR) at Kakrapar Atomic Power Station (KAPS) and for the first 540 MWe PHWR at Tarapur Atomic Power Project (TAPP- 3 and 4). The major objective of these PSAs was to present an integrated picture of the safety of the plant to identify and understand key plant vulnerabilities. As a result of the availability of these PSAs, there is a desire to use them to operate the plants in the most efficient manner practicable. In recent years, the operation of Indian Nuclear Power Plants has been characterized by improved availability/capacity factors and reduced forced outages. Frequency of planned outages is also being reduced. In order to achieve this, the PSAs are now being used as an engineering tool for optimization of Technical Specifications with regard to Allowed Outage Time (AOT) and Surveillance ...

Energy Technology Data Exchange (ETDEWEB)

One of the issues identified in the US Nuclear Regulatory Commission`s Nuclear Plant Aging Research program plan is the need to understand the state of ``mothballed`` or other out-of-service equipment to ensure subsequent safe operation. Programs for proper storage and preservation of materials and components are required by NRC regulations (10 CFR 50, Appendix B). However, materials and components have been seriously degraded due to improper storage, protection, or layup, at facilities under construction as well as those with operating licenses. Pacific Northwest Laboratory has evaluated management of aging for unstarted or mothballed nuclear power plants. The investigations revealed that no uniform guidance in the industry addresses reactor layup. In each case investigated, layup was not initiated in a timely manner, primarily because of schedule uncertainty. Hence, it is reasonable to assume that this delay resulted in accelerated aging of some ...

Energy Technology Data Exchange (ETDEWEB)

As a three-year joint university-industry effort, development of a generalized boiling transition analysis method has been started in 2002 aiming at enhanced capabilities of subchannel analysis for a wide variety of BWR-type fuel bundle geometry from ordinary BWR to tight lattice fuel bundles. For this purpose, five dominant factors affecting boiling transition phenomena have been identified on which our efforts of experimentation and numerical analyses are focused. In this report, as the first-year achievement, we will describe a master plan of the development and contents for experimental approaches to construct thermal-hydraulic databases. The databases will be utilized for the developments of constitutive equations to describe the basic characteristics of the elementary processes. The planned experiments are divided into two groups. One is air-water experiments at atmospheric pressure, and the other is steam-water experiments up to 1 MPa. ...