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Akademický článek

Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency

Autor: S Bijvoet, S E Gagné, S Moorjani, C Gagné, H E Henderson, J C Fruchart, J Dallongeville, P Alaupovic, M Prins, J J Kastelein, M R Hayden

Publikováno v: Journal of Lipid Research, Vol 37, Iss 3, Pp 640-650 (1996)

We have assessed the expression of heterozygosity for lipoprotein lipase (LPL) deficiency by studying a single large French Canadian family comprising 92 persons including 21 carriers of the catalytically defective P207L mutation. Phenotypic changes

Externí odkaz: https://doaj.org/article/f6d46694496c48ba8ee491d845205a23

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Akademický článek

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers.

Autor: S N Pimstone, S M Clee, S E Gagné, L Miao, H Zhang, E A Stein, M R Hayden

Publikováno v: Journal of Lipid Research, Vol 37, Iss 8, Pp 1675-1684 (1996)

An Asn291Ser mutation in exon 6 of the lipoprotein lipase gene (LPL) frequently occurs in Caucasians (2-4%) and results in a partial catalytic defect. Although this mutation may be associated with low HDL cholesterol and elevated triglyceride levels,

Externí odkaz: https://doaj.org/article/cd29e5284c594c3da3efdced16090480

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Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women

Autor: J J, Kastelein, J M, Ordovas, M E, Wittekoek, S N, Pimstone, W F, Wilson, S E, Gagné, M G, Larson, E J, Schaefer, J M, Boer, C, Gerdes, M R, Hayden

Publikováno v: Clinical genetics. 56(4)

We assessed the effect of two common mutations in the lipoprotein lipase gene (LPL), D9N and N291S, which have been shown to modulate plasma lipids in a wide spectrum of patients. A total of 1114 men and 1 144 women from the Framingham Offspring Stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f0585f8a69959e72417290c77a681fa0
https://pubmed.ncbi.nlm.nih.gov/10636448

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A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study

Autor: S E, Gagné, M G, Larson, S N, Pimstone, E J, Schaefer, J J, Kastelein, P W, Wilson, J M, Ordovas, M R, Hayden

Publikováno v: Clinical genetics. 55(6)

Genetic variation at the lipoprotein lipase (LPL) locus has been shown to influence plasma lipids and to modulate risk of coronary heart disease (CHD). Recently, we found that the most frequent variant at this locus, involving a C-terminal truncation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c21273bbcb4b54f3473f9fad2864acb2
https://pubmed.ncbi.nlm.nih.gov/10450862

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The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group

Autor: J J, Kastelein, B E, Groenemeyer, D M, Hallman, H, Henderson, P W, Reymer, S E, Gagné, H, Jansen, J C, Seidell, D, Kromhout, J W, Jukema, A V, Bruschke, E, Boerwinkle, M R, Hayden

Publikováno v: Clinical genetics. 53(1)

Two mutations in the lipoprotein lipase (LPL) gene, a T to G transition at position -93 of the proximal promoter region and an Asp9Asn substitution in exon 2, were examined in 762 Dutch males with angiographically-diagnosed coronary artery disease (C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1c0e11c71e165165cc5854d25ea070ab
https://pubmed.ncbi.nlm.nih.gov/9550358

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