J
Jean-Pierre Rabès
Researcher at Versailles Saint-Quentin-en-Yvelines University
Publications - 74
Citations - 6012
Jean-Pierre Rabès is an academic researcher from Versailles Saint-Quentin-en-Yvelines University. The author has contributed to research in topics: Familial hypercholesterolemia & Apolipoprotein B. The author has an hindex of 30, co-authored 67 publications receiving 5413 citations. Previous affiliations of Jean-Pierre Rabès include University of Paris & Paris Diderot University.
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Journal ArticleDOI
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Marianne Abifadel,Mathilde Varret,Jean-Pierre Rabès,Delphine Allard,Khadija Ouguerram,Martine Devillers,Corinne Cruaud,Suzanne Benjannet,Louise Wickham,D. Erlich,Aurélie Derré,Ludovic Villéger,Michel Farnier,Isabel Beucler,Eric Bruckert,Jean Chambaz,Bernard Chanu,Jean-Michel Lecerf,Gérald Luc,Philippe Moulin,Jean Weissenbach,Annick Prat,Michel Krempf,Claudine Junien,Nabil G. Seidah,Catherine Boileau +25 more
TL;DR: Two mutations in the gene PCSK9 (encoding proprotein convertase subtilisin/kexin type 9) that cause ADH are reported, a newly identified human subtilase that is highly expressed in the liver and contributes to cholesterol homeostasis.
Journal ArticleDOI
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
Marianne Abifadel,Jean-Pierre Rabès,Martine Devillers,Martine Devillers,Martine Devillers,Arnold Munnich,Arnold Munnich,Arnold Munnich,D. Erlich,D. Erlich,D. Erlich,Claudine Junien,Claudine Junien,Claudine Junien,Mathilde Varret,Mathilde Varret,Mathilde Varret,Catherine Boileau +17 more
TL;DR: The discovery in 2003 of the first mutations of the proprotein convertase subtilisin kexin 9 gene (PCSK9) causing ADH shed light on an unknown actor in cholesterol metabolism that since then has been extensively investigated.
Journal Article
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.
C Lavedan,Hélène Hofmann-Radvanyi,P Shelbourne,Jean-Pierre Rabès,Chantal Duros,D Savoy,I Dehaupas,Luce S,Keith J. Johnson,Claudine Junien +9 more
TL;DR: Segregation analysis supports the hypothesis of a maternal as well as a familial predisposition for the occurrence of the congenital form of myotonic dystrophy and reveals a significant excess of transmitting grandfathers partially accounted for by increased fertility in affected males.
Journal ArticleDOI
C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome.
Catherine Gallou-Kabani,Alexandre Vigé,M. S. Gross,Jean-Pierre Rabès,Catherine Boileau,Christiane Larue-Achagiotis,Daniel Tomé,Jean-Philippe Jais,Claudine Junien +8 more
TL;DR: This study assessed the suitability of A/J and C57BL/6J mice of both sexes as models of some components of the human metabolic syndrome under nutritional conditions more comparable with the actual worldwide diet responsible for the increased incidence of the MetS.
Journal ArticleDOI
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Delphine Allard,Sabine Amsellem,Marianne Abifadel,Marianne Abifadel,Mélanie Trillard,Martine Devillers,Gérald Luc,Michel Krempf,Yves Reznik,Jean-Philippe Girardet,Alexandre Fredenrich,Claudine Junien,Mathilde Varret,Catherine Boileau,Pascale Benlian,Jean-Pierre Rabès +15 more
TL;DR: The observations suggest that variations in PCSK9 are a rare cause of non LDLR/non APOB ADH and that additional environmental or genetic factors may contribute to the phenotype caused byPCSK9 missense mutations in humans.