J
Joyce A. Goldstein
Researcher at National Institutes of Health
Publications - 186
Citations - 17989
Joyce A. Goldstein is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Mephenytoin & CYP2C19. The author has an hindex of 72, co-authored 186 publications receiving 17486 citations. Previous affiliations of Joyce A. Goldstein include University of Florida & Shenandoah University.
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Journal ArticleDOI
The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans.
S. M. F. De Morais,G. R. Wilkinson,Joyce Blaisdell,K. Nakamura,Urs A. Meyer,Joyce A. Goldstein +5 more
TL;DR: It is reported that the principal defect in poor metabolizers is a single base pair (G-->A) mutation in exon 5 of CYP2C19, which creates an aberrant splice site that results in a truncated, non-functional protein.
Journal Article
Identification of a new genetic defect responsible for the polymorphism of (s)-mephenytoin metabolism in japanese
S. M. F. De Morais,Grant R. Wilkinson,Joyce Blaisdell,Urs A. Meyer,K. Nakamura,Joyce A. Goldstein +5 more
TL;DR: A new mutation is identified in Japanese poor metabolizers, consisting of a guanine to adenine mutation at position 636 of exon 4 of CYP2C19, which creates a premature stop codon.
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Cytochrome P450 2C9 polymorphisms: a comprehensive review of the in-vitro and human data.
TL;DR: Clinical investigations evaluating the metabolic consequences in individuals expressing the CYP2C9*2, *3, *4, *5, or *6 alleles are required before large-scale clinical genotyping can be recommended.
Journal ArticleDOI
Clinical relevance of genetic polymorphisms in the human CYP2C subfamily
TL;DR: The human CYP2Cs are an important subfamily of P450 enzymes that metabolize approximately 20% of clinically used drugs and each member of this subfamily has been found to be genetically polymorphic.
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The role of the CYP2C9-Leu359 allelic variant in the tolbutamide polymorphism.
Theresa H. Sullivan-Klose,Burhan I. Ghanayem,Douglas A. Bell,Zhi Yi Zhang,Laurence S. Kaminsky,Gillian M. Shenfield,John O. Miners,Donald J. Birkett,Joyce A. Goldstein +8 more
TL;DR: The present data suggest that the incidence of the Leu359 allelic variant of CYP2C9 may account for the occurrence of poor metabolizers of tolbutamide.