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The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

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Title: The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Authors: Azar Y; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Saint-Joseph University of Beirut, Faculty of Pharmacy, Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Beirut, 1004 2020, Lebanon., Ludwig TE; CHRU and Brest University, Inserm, EFS, INSERM UMR 1078, GGB, F-29200, Brest, France., Le Bon H; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France., Strøm TB; Oslo University Hospital, Department of Medical Genetics, 0450, Oslo, Norway., Bluteau O; Sorbonne University, Faculty of Medicine Pitié-Salpêtrière, INSERM UMRS 1166, F-75005, Paris, France., Di-Filippo M; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Biochemistry and Molecular Biology, Bron, F-69002, France., Carrié A; Sorbonne University, Faculty of Medicine Pitié-Salpêtrière, INSERM UMRS 1166, F-75005, Paris, France., Chtioui H; Aix-Marseille University, La Conception Hospital, Nutrition Department, AP-HM, INSERM, INRAE, C2VN, Marseille, F-13001, France., Béliard S; Aix-Marseille University, La Conception Hospital, Nutrition Department, AP-HM, INSERM, INRAE, C2VN, Marseille, F-13001, France., Marmontel O; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Biochemistry and Molecular Biology, Bron, F-69002, France., Fonteille A; Centre Hospitalier d'Annecy Genevois, Médecine Interne, Epagny Metz-Tessy, F-74370, France., Gebhart M; CHU Jean Minjoz, F-25000, Besançon, France., Peretti N; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Pediatric Gastroenterology-Hepatology and Nutrition, Bron, F-69002, France., Moulin P; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Endocrinology and Nutrition, Bron, F-69002, France., Ferrières J; Toulouse Rangueil University Hospital, Department of Cardiology, INSERM, UMR 1295, F-31400, Toulouse, France., Pradignac A; CHU of Strasbourg, Department of Internal Medicine, Endocrinology and Nutrition, Strasbourg, F-67000, France., Farnier M; University of Bourgogne Franche-Comté, PEC2 Team, Dijon, Cedex, F-25000, France., Gallo A; Sorbonne University, Faculty of Medicine Pitié-Salpêtrière, INSERM UMRS 1166, F-75005, Paris, France., Yelnik C; CHUR of Lille, Department of Internal Medicine and Immunology, Lille, France; INSERM, UMR 1167 RID-AGE, Lille, F-59000, France., Blom D; University of Cape Town, Division of Lipidology and Cape Heart Institute, Cape Town, 7925, South Africa., Génin E; CHRU and Brest University, Inserm, EFS, INSERM UMR 1078, GGB, F-29200, Brest, France., Bogsrud MP; Oslo University Hospital, Department of Medical Genetics, 0450, Oslo, Norway., Leren TP; Oslo University Hospital, Department of Medical Genetics, 0450, Oslo, Norway., Boileau C; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Bichat-Claude Bernard Hospital, Genetic Department, AP-HP, F-75018, Paris, France., Abifadel M; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Saint-Joseph University of Beirut, Faculty of Pharmacy, Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Beirut, 1004 2020, Lebanon., Rabès JP; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Paris-Saclay University and Versailles-Saint-Quentin-en-Yvelines University, Ambroise Paré University Hospital, Biochemistry and Molecular Genetics Department, AP-HP, F-92104, Boulogne-Billancourt, France., Varret M; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France. Electronic address: mathilde.varret@inserm.fr.
Source: Atherosclerosis [Atherosclerosis] 2024 Dec; Vol. 399, pp. 118596. Date of Electronic Publication: 2024 Sep 13.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: Ireland NLM ID: 0242543 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1484 (Electronic) Linking ISSN: 00219150 NLM ISO Abbreviation: Atherosclerosis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
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  Data: <searchLink fieldCode="AU" term="%22Azar+Y%22">Azar Y</searchLink>; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Saint-Joseph University of Beirut, Faculty of Pharmacy, Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Beirut, 1004 2020, Lebanon.<br /><searchLink fieldCode="AU" term="%22Ludwig+TE%22">Ludwig TE</searchLink>; CHRU and Brest University, Inserm, EFS, INSERM UMR 1078, GGB, F-29200, Brest, France.<br /><searchLink fieldCode="AU" term="%22Le+Bon+H%22">Le Bon H</searchLink>; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France.<br /><searchLink fieldCode="AU" term="%22Strøm+TB%22">Strøm TB</searchLink>; Oslo University Hospital, Department of Medical Genetics, 0450, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Bluteau+O%22">Bluteau O</searchLink>; Sorbonne University, Faculty of Medicine Pitié-Salpêtrière, INSERM UMRS 1166, F-75005, Paris, France.<br /><searchLink fieldCode="AU" term="%22Di-Filippo+M%22">Di-Filippo M</searchLink>; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Biochemistry and Molecular Biology, Bron, F-69002, France.<br /><searchLink fieldCode="AU" term="%22Carrié+A%22">Carrié A</searchLink>; Sorbonne University, Faculty of Medicine Pitié-Salpêtrière, INSERM UMRS 1166, F-75005, Paris, France.<br /><searchLink fieldCode="AU" term="%22Chtioui+H%22">Chtioui H</searchLink>; Aix-Marseille University, La Conception Hospital, Nutrition Department, AP-HM, INSERM, INRAE, C2VN, Marseille, F-13001, France.<br /><searchLink fieldCode="AU" term="%22Béliard+S%22">Béliard S</searchLink>; Aix-Marseille University, La Conception Hospital, Nutrition Department, AP-HM, INSERM, INRAE, C2VN, Marseille, F-13001, France.<br /><searchLink fieldCode="AU" term="%22Marmontel+O%22">Marmontel O</searchLink>; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Biochemistry and Molecular Biology, Bron, F-69002, France.<br /><searchLink fieldCode="AU" term="%22Fonteille+A%22">Fonteille A</searchLink>; Centre Hospitalier d'Annecy Genevois, Médecine Interne, Epagny Metz-Tessy, F-74370, France.<br /><searchLink fieldCode="AU" term="%22Gebhart+M%22">Gebhart M</searchLink>; CHU Jean Minjoz, F-25000, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Peretti+N%22">Peretti N</searchLink>; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Pediatric Gastroenterology-Hepatology and Nutrition, Bron, F-69002, France.<br /><searchLink fieldCode="AU" term="%22Moulin+P%22">Moulin P</searchLink>; Lyon-1 University, INSERM U1060, CarMeN Laboratory, Oullins, F-69600, France; Hospices Civil de Lyon, Department of Endocrinology and Nutrition, Bron, F-69002, France.<br /><searchLink fieldCode="AU" term="%22Ferrières+J%22">Ferrières J</searchLink>; Toulouse Rangueil University Hospital, Department of Cardiology, INSERM, UMR 1295, F-31400, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Pradignac+A%22">Pradignac A</searchLink>; CHU of Strasbourg, Department of Internal Medicine, Endocrinology and Nutrition, Strasbourg, F-67000, France.<br /><searchLink fieldCode="AU" term="%22Farnier+M%22">Farnier M</searchLink>; University of Bourgogne Franche-Comté, PEC2 Team, Dijon, Cedex, F-25000, France.<br /><searchLink fieldCode="AU" term="%22Gallo+A%22">Gallo A</searchLink>; Sorbonne University, Faculty of Medicine Pitié-Salpêtrière, INSERM UMRS 1166, F-75005, Paris, France.<br /><searchLink fieldCode="AU" term="%22Yelnik+C%22">Yelnik C</searchLink>; CHUR of Lille, Department of Internal Medicine and Immunology, Lille, France; INSERM, UMR 1167 RID-AGE, Lille, F-59000, France.<br /><searchLink fieldCode="AU" term="%22Blom+D%22">Blom D</searchLink>; University of Cape Town, Division of Lipidology and Cape Heart Institute, Cape Town, 7925, South Africa.<br /><searchLink fieldCode="AU" term="%22Génin+E%22">Génin E</searchLink>; CHRU and Brest University, Inserm, EFS, INSERM UMR 1078, GGB, F-29200, Brest, France.<br /><searchLink fieldCode="AU" term="%22Bogsrud+MP%22">Bogsrud MP</searchLink>; Oslo University Hospital, Department of Medical Genetics, 0450, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Leren+TP%22">Leren TP</searchLink>; Oslo University Hospital, Department of Medical Genetics, 0450, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Boileau+C%22">Boileau C</searchLink>; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Bichat-Claude Bernard Hospital, Genetic Department, AP-HP, F-75018, Paris, France.<br /><searchLink fieldCode="AU" term="%22Abifadel+M%22">Abifadel M</searchLink>; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Saint-Joseph University of Beirut, Faculty of Pharmacy, Laboratory of Biochemistry and Molecular Therapeutics (LBTM), Beirut, 1004 2020, Lebanon.<br /><searchLink fieldCode="AU" term="%22Rabès+JP%22">Rabès JP</searchLink>; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France; Paris-Saclay University and Versailles-Saint-Quentin-en-Yvelines University, Ambroise Paré University Hospital, Biochemistry and Molecular Genetics Department, AP-HP, F-92104, Boulogne-Billancourt, France.<br /><searchLink fieldCode="AU" term="%22Varret+M%22">Varret M</searchLink>; Paris Cité University and Sorbonne Paris Nord University, INSERM UMRS 1148, Laboratory for Vascular Translational Science (LVTS), F-75018, Paris, France. Electronic address: mathilde.varret@inserm.fr.
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