R
Rima Rozen
Researcher at McGill University
Publications - 213
Citations - 26523
Rima Rozen is an academic researcher from McGill University. The author has contributed to research in topics: Methylenetetrahydrofolate reductase & Homocysteine. The author has an hindex of 64, co-authored 212 publications receiving 25630 citations. Previous affiliations of Rima Rozen include National Center for Toxicological Research & University of Calgary.
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Journal ArticleDOI
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
P. Frosst,Henk J. Blom,Renate Milos,Philippe Goyette,Christal A. Sheppard,Rowena G. Matthews,G. J.H. Boers,M. den Heijer,Leo A. J. Kluijtmans,L.P.W.J. van den Heuvel,Rima Rozen +10 more
TL;DR: This work has identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes and may represent an important genetic risk factor in vascular disease.
Journal ArticleDOI
Relation Between Folate Status, a Common Mutation in Methylenetetrahydrofolate Reductase, and Plasma Homocysteine Concentrations
Paul F. Jacques,A. G. Bostom,R. R. Williams,R. C. Ellison,John H. Eckfeldt,Irwin H. Rosenberg,Jacob Selhub,Rima Rozen +7 more
TL;DR: Individuals with thermolabile MTHFR may have a higher folate requirement for regulation of plasma homocysteine concentrations; folate supplementation may be necessary to prevent fasting hyperhomocysteinemia in such persons.
Journal ArticleDOI
A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity
TL;DR: A second common variant in MTHFR (A1298C), an E to A substitution, was characterized, associated with decreased enzyme activity; homozygotes had approximately 60% of control activity in lymphocytes, lower than that seen in single heterozygotes for the C677T variant.
Journal ArticleDOI
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification
Philippe Goyette,James S. Sumner,Renate Milos,Alessandra M.V. Duncan,David S. Rosenblatt,David S. Rosenblatt,Rowena G. Matthews,Rima Rozen +7 more
TL;DR: Two mutations were identified in MTHFR–deficient patients: a missense mutation in a residue conserved in bacterial enzymes, and a nonsense mutation (Arg to Ter) that results in homocysteine methylation to methionine.