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Philippe Goyette
Researcher at McGill University
Publications - 15
Citations - 8058
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 receiving 7874 citations. Previous affiliations of Philippe Goyette include Montreal Children's Hospital.
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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
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.
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.
Journal Article
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
TL;DR: Seven novel mutations in this gene are characterized: six missense mutations and a 5' splice-site defect that activates a cryptic splice site in the coding sequence that is associated with extremely low activity and onset of symptoms within the 1st year of age.