R
Renate Milos
Researcher at Montreal Children's Hospital
Publications - 5
Citations - 6978
Renate Milos is an academic researcher from Montreal Children's Hospital. The author has contributed to research in topics: Methylenetetrahydrofolate reductase deficiency & Methylenetetrahydrofolate reductase. The author has an hindex of 5, co-authored 5 publications receiving 6808 citations. Previous affiliations of Renate Milos include McGill University.
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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
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.
Journal ArticleDOI
Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)
Philippe Goyette,Aditya Pai,Renate Milos,P. Frosst,Pamela V. Tran,Zhoutao Chen,Manuel Chan,Rima Rozen +7 more
TL;DR: The isolation and characterization of the human and mouse genes for MTHFR are reported, finding the exon sizes, locations of intronic boundaries, and intron sizes are quite similar between the two species.
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Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family
Rima Rozen,Jerry Vockley,Lubing Zhou,Renate Milos,Jan Willard,Katherine Fu,Caroline Vicanek,Lawrence Low-Nang,Elena Torban,Beatrice Fournier +9 more
TL;DR: A cDNA encoding the human precursor for a novel member (gene symbol ACADSB) of the ACD gene family has been isolated and characterized, producing a protein of the expected size.
Journal ArticleDOI
Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms
Pamela V. Tran,Daniel Leclerc,Manuel Chan,Aditya Pai,Francois Hiou-Tim,Qing Wu,Philippe Goyette,Carmen Artigas,Renate Milos,Rima Rozen +9 more
TL;DR: The results suggest intricate regulation of MTHFR, which will facilitate additional regulatory and functional studies of the different isoforms, and identify clusters of transcriptional start sites, suggesting the existence of multiple promoters.