Research Topics
Genomes and Genes | H W MohrenweiserSummaryAffiliation: Lawrence Livermore National Laboratory Country: USA Publications
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Publications
Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genesHarvey W Mohrenweiser
Biology and Biotechnology Research Program, L 448, Lawrence Livermore National Laboratory, 7000 East Avenue, CA 94551 0808, USA
Mutat Res 526:93-125. 2003..In closing, we raise some of the non-technical challenges to the utilization of the full richness of the genetic variation to reduce disease occurrence and ultimately improve health care...- Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humansHarvey W Mohrenweiser
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
Cancer Epidemiol Biomarkers Prev 11:1054-64. 2002.... - Variation in DNA repair is a factor in cancer susceptibility: a paradigm for the promises and perils of individual and population risk estimation?H W Mohrenweiser
Biology and Biotechnology Research Program, L 452, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA
Mutat Res 400:15-24. 1998.... - Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12E E Eichler
Human Genome Center, BBRP, L 452, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
Genome Res 8:791-808. 1998..The sequence data described in this paper have been submitted to GenBank under accession nos. AC003973 and AC004004.].. - Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouseM A Coleman
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, California 94551, USA
Genomics 65:274-82. 2000..HARP/SMARCAL1 transcripts are ubiquitously expressed in human and mouse tissues, with testis presenting the highest levels of mRNA expression in humans... - Arginine to tryptophan substitution in the active site of a human lactate dehydrogenase variant--LDHB GUA1: postulated effects on subunit structure and catalysisG C Shonnard
Biology and Biotechonology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA
Biochim Biophys Acta 1315:9-14. 1996..The ability to maintain normal, tissue-specific kinetic properties could explain the absence of clinical manifestations in the homozygous LDHB GUA1 individuals... - Regions of sex-specific hypo- and hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19H W Mohrenweiser
Human Genome Center, Lawrence Livermore National Laboratory, California 94550, USA
Genomics 47:153-62. 1998.... - The genetic basis for variation in radiation sensitivity in the general populationI M Jones
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, California, USA
Radiat Res 163:700-1. 2005 - JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factorsS M Hoffman
Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
Genomics 43:109-11. 1997 - Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticityE E Eichler
Human Genome Center, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA
Hum Mol Genet 6:991-1002. 1997.... 
Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locusM Watanabe
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, CA 94550, USA
Am J Hum Genet 58:308-16. 1996..Thus, molecular alterations at the TPI locus were detected in 10 unrelated individuals in whom segregation of a phenotype of reduced TPI activity previously had been identified...- Refined mapping of the three DNA repair genes, ERCC1, ERCC2, and XRCC1, on human chromosome 19H W Mohrenweiser
Biomedical Sciences Division, Lawrence Livermore National Laboratory, Livermore, CA 94550
Cytogenet Cell Genet 52:11-4. 1989..2----q13.3 by in situ hybridization using fluorescently-labeled cosmid probes. ERCC1 and ERCC2 have been found to be separated by less than 250 kb by large fragment restriction enzyme site mapping... - Organization and evolution of the cytochrome P450 CYP2A-2B-2F subfamily gene cluster on human chromosome 19S M Hoffman
Human Genome Center, Lawrence Livermore National Laboratory, CA 94551, USA
J Mol Evol 41:894-900. 1995..The identification of all genes and pseudogenes in this cluster also makes it possible to determine the origins of some previously known variant P450 transcripts... - Polymorphisms of XRCC1 and XRCC3 genes and susceptibility to breast cancerTasha R Smith
Department of Cancer Biology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
Cancer Lett 190:183-90. 2003..74; 95% CI=1.13-67.53). Although larger studies are needed to validate the study results, our data suggest that amino acid substitution variants of XRCC1 and XRCC3 genes may contribute to breast cancer susceptibility... - Exploration of methods to identify polymorphisms associated with variation in DNA repair capacity phenotypesIrene M Jones
Lawrence Livermore National Laboratory, Livermore, CA 94550, USA
Mutat Res 616:213-20. 2007..The results should encourage research into utilization of multivariate analytical methods for epidemiological studies of the association of genetic variation in complex genotypes with risk of common diseases... - DNA-repair genetic polymorphisms and breast cancer riskTasha R Smith
Department of Cancer Biology, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
Cancer Epidemiol Biomarkers Prev 12:1200-4. 2003..We provide evidence that variants of XRCC1, XRCC3, and ERCC4/XPF genes, particularly in combination, contribute to breast cancer susceptibility... - Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein functionTong Xi
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, CA 94550, USA
Genomics 83:970-9. 2004..These variants are expected to be the molecular genetic and biochemical basis for the associations of reduced DNA repair capacity phenotypes with elevated cancer risk... - Genetic variation and exposure related risk estimation: will toxicology enter a new era? DNA repair and cancer as a paradigmHarvey W Mohrenweiser
Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, California, USA
Toxicol Pathol 32:136-45. 2004..Similar issues exist in selecting the animal models most appropriate for predicting human risk from environmental exposures to toxic agents... - Four human FANCG polymorphic variants show normal biological function in hamster CHO cellsJohn M Hinz
Biosciences Directorate, Lawrence Livermore National Laboratory, PO Box 808, Livermore, CA 94551 0808, USA
Mutat Res 602:34-42. 2006..Using this novel system for determining FANCG functionality, we detect no decrement in function of the human FANCG polymorphic variants examined... - Identification and functional characterization of polymorphisms in human cyclooxygenase-1 (PTGS1)Craig R Lee
Division of Intramural Research, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, Chapel Hill, North Carolina, USA
Pharmacogenet Genomics 17:145-60. 2007..We sought to identify and characterize the functional relevance of genetic polymorphisms in PTGS1... - Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6)Kelly Bleasby
Laboratory of Pharmacology and Chemistry, The National Institute of Environmental Health Sciences, 111 T W Alexander Drive, Research Triangle Park, NC 27709, USA
J Pharmacol Exp Ther 314:923-31. 2005.... - Genetic findings and functional studies of human CYP3A5 single nucleotide polymorphisms in different ethnic groupsSu Jun Lee
Human Metabolism Section, Laboratory of Pharmacology and Chemistry, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
Pharmacogenetics 13:461-72. 2003.... - Polymorphisms in human soluble epoxide hydrolaseBeata D Przybyla-Zawislak
Department of Pharmaceutical Sciences, University of Connecticut, 372 Fairfield Road, Unit 2092, Storrs, CT 06269-2092, USA
Mol Pharmacol 64:482-90. 2003..These results suggest that at least six hsEH variants exist in the human population and that at least four of these may influence hsEH-mediated metabolism of exogenous and endogenous epoxide substrates in vivo... - The discovery of new coding alleles of human CYP26A1 that are potentially defective in the metabolism of all-trans retinoic acid and their assessment in a recombinant cDNA expression systemSu Jun Lee
Laboratory of Pharmacology and Chemistry, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
Pharmacogenet Genomics 17:169-80. 2007..We sequenced CYP26A1 in racially diverse individuals and assessed the metabolism of retinoic acid by newly identified coding alleles of CYP26A1 in a recombinant system...