R
Randall C. Schatzman
Researcher at Bio-Rad Laboratories
Publications - 19
Citations - 6462
Randall C. Schatzman is an academic researcher from Bio-Rad Laboratories. The author has contributed to research in topics: Hereditary hemochromatosis & Hereditary Hemochromatosis Protein. The author has an hindex of 10, co-authored 19 publications receiving 6369 citations. Previous affiliations of Randall C. Schatzman include California Institute of Technology & University of California, San Francisco.
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Journal ArticleDOI
A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
John N. Feder,Andreas Gnirke,Winston Thomas,Zenta Tsuchihashi,David A. Ruddy,A. Basava,F. Dormishian,R. Domingo,Michael C. Ellis,A. Fullan,L.M. Hinton,Norman Jones,B.E. Kimmel,Gregory S. Kronmal,Peter M. San Francisco Lauer,V.K. Lee,Deborah B. Loeb,Felipa A. Mapa,Erin E. McClelland,Nicole C. Meyer,Gabe Mintier,N. Moeller,T. E. Moore,E. Morikang,Cynthia E. Prass,Leah Quintana,Steven M. Starnes,Randall C. Schatzman,K.J. Brunke,Dennis Drayna,Neil Risch,Bruce R. Bacon,Roger K. Wolff +32 more
TL;DR: Using linkage-disequilibrium and full haplotype analysis, this paper identified a 250-kilobase region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical-by-descent in 85% of patient chromosomes.
Journal ArticleDOI
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
John N. Feder,David Penny,Alivelu Irrinki,Vince K. Lee,José A. Lebrón,Nicole Watson,Zenta Tsuchihashi,Elliott Sigal,Pamela J. Bjorkman,Randall C. Schatzman +9 more
TL;DR: A molecular link between HFE and a key protein involved in iron transport, the TfR, is established and the possibility that alterations in this regulatory mechanism may play a role in the pathogenesis of hereditary hemochromatosis is raised.
Journal ArticleDOI
The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression
John N. Feder,Zenta Tsuchihashi,Alivelu Irrinki,Vincent K. Lee,Felipa A. Mapa,Ebenezer Morikang,Cynthia E. Prass,Steven M. Starnes,Roger K. Wolff,Seppo Parkkila,William S. Sly,Randall C. Schatzman +11 more
TL;DR: The first functional significance of the C282Y mutation is described by suggesting that an abnormality in protein trafficking and/or cell-surface expression of HLA-H leads to HH disease.
Journal ArticleDOI
HFE gene knockout produces mouse model of hereditary hemochromatosis
Xiao Yan Zhou,Shunji Tomatsu,Robert E. Fleming,Seppo Parkkila,Abdul Waheed,Jinxing Jiang,Ying Fei,Elizabeth M. Brunt,David A. Ruddy,Cynthia E. Prass,Randall C. Schatzman,Rosemary O'Neill,Robert S. Britton,Bruce R. Bacon,William S. Sly +14 more
TL;DR: The knockout mouse model of HH will facilitate investigation into the pathogenesis of increased iron accumulation in HH and provide opportunities to evaluate therapeutic strategies for prevention or correction of iron overload.
Journal ArticleDOI
Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
Abdul Waheed,Seppo Parkkila,Xiao Yan Zhou,Shunji Tomatsu,Zenta Tsuchihashi,John N. Feder,Randall C. Schatzman,Robert S. Britton,Bruce R. Bacon,William S. Sly +9 more
TL;DR: In this article, the effects of the Cys-282→Tyr (C282Y) mutation on the cellular trafficking and degradation of the HFE protein in transfected COS-7 cells were investigated.