Philippe Goyette
McGill University
15 Papers
101 Citations
Philippe Goyette is an academic researcher from McGill University. The author has contributed to research in topics: Methylenetetrahydrofolate reductase & Methylenetetrahydrofolate reductase deficiency. The author has an hindex of 11, co-authored 15 publications. Previous affiliations of Philippe Goyette include Montreal Children's Hospital.
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Papers
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.
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.
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Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.
Daniel Leclerc,E. Campeau,Philippe Goyette,C. E. Adjalla,Benedicte Christensen,M. Ross,P. Eydoux,David S. Rosenblatt,Rima Rozen,Roy A. Gravel +9 more
TL;DR: It is discussed the possibility that a mild deficiency of methionine synthase activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects, as well as an amino acid substitution present in high frequency in the general population.
414
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.
66
Patent
cDNA FOR HUMAN METHYLENETETRAHYDROFOLATE REDUCTASE
Rima Rozen,Philippe Goyette +1 more
- 25 May 1995
TL;DR: In this article, a cDNA probe for human methylenetetetrahydrofolate reductase (MTHFR) was used for identification of sequence abnormalities in patients with MTHFR deficiency.
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