H
Harvey W. Mohrenweiser
Researcher at Lawrence Livermore National Laboratory
Publications - 76
Citations - 9333
Harvey W. Mohrenweiser is an academic researcher from Lawrence Livermore National Laboratory. The author has contributed to research in topics: Chromosome 19 & Gene. The author has an hindex of 44, co-authored 76 publications receiving 9127 citations. Previous affiliations of Harvey W. Mohrenweiser include Harvard University & Oregon Health & Science University.
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Journal ArticleDOI
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Roel A. Ophoff,Gisela M. Terwindt,Monique N. Vergouwe,Ronald van Eijk,Peter J. Oefner,Susan M.G. Hoffman,Jane Lamerdin,Harvey W. Mohrenweiser,Dennis E. Bulman,Maurizio Ferrari,Joost Haan,Dick Lindhout,Gert-Jan B. van Ommen,Marten H. Hofker,Michel D. Ferrari,Rune R. Frants +15 more
TL;DR: A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.
Journal Article
Modulation of Nucleotide Excision Repair Capacity by XPD Polymorphisms in Lung Cancer Patients
Margaret R. Spitz,Xifeng Wu,Yunfei Wang,Li E. Wang,Sanjay Shete,Christopher I. Amos,Zhaozheng Guo,Lei Lei,Harvey W. Mohrenweiser,Qingyi Wei +9 more
TL;DR: The results suggest that the two XPD polymorphisms have a modulating effect on DRC, especially in the cases, and the pattern was less evident among the controls, although there was a nonsignificant 41% increase in the risk of suboptimal DRC for controls who were homozygous at either locus.
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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
Michael D. Briggs,Susan M.G. Hoffman,Lily King,Anne S. Olsen,Harvey W. Mohrenweiser,JG Leroy,Geert Mortier,David L. Rimoin,David L. Rimoin,Ralph S. Lachman,E S Gaines +10 more
TL;DR: The data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function and show the importance of knowing the carrier and removal status of canine coronavirus.
Journal ArticleDOI
Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity
Jennifer J. Hu,Tasha R. Smith,Mark Steven Miller,Harvey W. Mohrenweiser,Andrea Golden,L. Douglas Case +5 more
TL;DR: It is suggested that amino acid substitution variants of XRCC1 and APE1 may contribute to IR hypersensitivity as measured by prolonged cell cycle G2 delay.
Journal Article
A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles.
Pedro M. Fernández-Salguero,Susan M.G. Hoffman,Cholerton S,Harvey W. Mohrenweiser,Hannu Raunio,A Rautio,Olavi Pelkonen,Huang Jd,Evans We +8 more
TL;DR: The existence of a new cytochrome P450 genetic polymorphism is established and variant alleles were found in individuals who were deficient in their ability to metabolize the CYP2A6 probe drug coumarin.