Výsledky vyhledávání - "B. Saint‐Jore"

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects

Autor: Bernard Chanu, Catherine Bonaïti-Pellié, Michel Krempf, Danielle Erlich, Catherine Boileau, Mathilde Varret, Martine Devillers, B. Saint-Jore, D. Mathé, Michel Farnier, Christiane Dachet, Bernard Jacotot, Claudine Junien, Patricia Blanchard, Jean-Pierre Rabès

Publikováno v: European Journal of Human Genetics. 8:621-630

Autosomal dominant type IIa hypercholesterolaemia (ADH) is characterised by an elevation of total plasma cholesterol associated with increased LDL particles. Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cda8b95311e86ce1e9940a3ed0388db
https://doi.org/10.1038/sj.ejhg.5200516

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Familial ligand-defective apolipoprotein B-100: Simultaneous detection of the ARG3500→GLN and ARG3531→CYS mutations in a French population

Autor: B. Saint-Jore, Guillaume Jondeau, Catherine Boileau, Mathilde Varret, Jean-Pierre Rabès, D. Erlich, Michel Krempf, Claudine Junien, P Giraudet

Publikováno v: Human Mutation. 10:160-163

Familial ligand-defective apolipoprotein B-100 (FDB) is an autosomal dominant disorder leading to plasma LDL cholesterol elevation and coronary artery disease (CAD). Two specific mutations in the APOB gene—R3500Q and R3531C—induce FDB. We report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c2b5464075972515f907e6e4dd6b9da7
https://doi.org/10.1002/(sici)1098-1004(1997)10:2<160::aid-humu8>3.0.co

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Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

Autor: Catherine Boileau, N. Loux, B. Saint-Jore, F. Dairou, Truffert J, J. L. de Gennes, Claudine Junien, P. Douste-Blazy, B. Dastugue, Benlian P, G. Collod

Publikováno v: Hum Mutat
Hum Mutat, 1992, 1 (4), pp.325-32. ⟨10.1002/humu.1380010411⟩

To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein receptor (LDLR) gene. Seve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba04b173b8e3a68554abba9731c4457
https://doi.org/10.1002/humu.1380010411

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Molecular analysis of apo(a) fragmentation in polygenic hypercholesterolemia: characterization of a new plasma fragment pattern

Autor: Philippe Giral, Joëlle Thillet, B. Saint-Jore, Sophie Gonbert, C. Doucet, John Chapman

Publikováno v: Arteriosclerosis, thrombosis, and vascular biology. 21(8)

Hypercholesterolemia is frequently associated with elevated Lp(a) levels, an independent risk factor for coronary, cerebrovascular, and peripheral vascular disease. A portion of apolipoprotein(a) [apo(a)] circulates as a series of fragments derived f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15b00e226ace0446db721ee4279e9d92
https://pubmed.ncbi.nlm.nih.gov/11498465

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Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500--GLN and ARG3531--CYS mutations in a French population

Autor: J P, Rabès, M, Varret, B, Saint-Jore, D, Erlich, G, Jondeau, M, Krempf, P, Giraudet, C, Junien, C, Boileau

Publikováno v: Human mutation. 10(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::34159dbae5b2315914d5b183e4bead6e
https://pubmed.ncbi.nlm.nih.gov/9259199

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Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

Autor: N. Loux, Catherine Boileau, B. Saint-Jore, Claudine Junien

Publikováno v: Human genetics. 91(5)

We identified by polymerase chain reaction/ single-strand conformation polymorphism analysis two unreported polymorphisms in the low density lipoprotein receptor gene, located in exons 11 and 15. The exon 15 sequence variation can also be readily det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f26e6b52f62c18e624fb9066bb53a8
https://pubmed.ncbi.nlm.nih.gov/8100212

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