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Richard M. Weinshilboum

Researcher at Mayo Clinic

Publications -  571
Citations -  33641

Richard M. Weinshilboum is an academic researcher from Mayo Clinic. The author has contributed to research in topics: Pharmacogenetics & Thiopurine methyltransferase. The author has an hindex of 86, co-authored 529 publications receiving 31166 citations. Previous affiliations of Richard M. Weinshilboum include University of Rochester & Royal Hallamshire Hospital.

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Journal ArticleDOI

Pharmacogenetics of human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1): gene resequencing, sequence variation, and functional genomics

TL;DR: The entire coding sequence of the human PAPSS1 gene is resequenced, including exon-intron splice junctions, using DNA samples from 60 Caucasian-American and 58 African-American subjects and two single nucleotide polymorphisms were observed-including two non-synonymous coding SNPs (cSNPs) that altered the following amino acids: Arg333Cys and Glu531Gln.
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Myelotoxicity after high-dose methotrexate in childhood acute leukemia is influenced by 6-mercaptopurine dosing but not by intermediate thiopurine methyltransferase activity

TL;DR: For both TPMTIA and TPMTHA patients, dose of 6MP prior to HD- MTX should be guided by pre-HD-MTX blood counts, but not by TPM T activity, because patients with intermediate activity of thiopurine methyltransferase (TPMTia) have higher cytosol 6-thioguanine nucleotide levels.
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Major gene polymorphism for human erythrocyte (RBC) thiol methyltransferase (TMT)

TL;DR: The high activity allele, TMTH, appears to have reduced expression in heterozygous individuals and to act in concert with a strong influence from polygenic genotype to produce a highly heritable phenotype.
Proceedings ArticleDOI

Life-iNet: A Structured Network-Based Knowledge Exploration and Analytics System for Life Sciences

TL;DR: The Life-iNet system is presented, which automatically constructs structured networks of factual knowledge from large amounts of background documents, to support efficient exploration of structured factual knowledge in the unstructured literature.