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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.
Azar Y, Ludwig TE, Le Bon H, Strøm TB, Bluteau O, Di-Filippo M, Carrié A, Chtioui H, Béliard S, Marmontel O, Fonteille A, Gebhart M, Peretti N, Moulin P, Ferrières J, Pradignac A, Farnier M, Gallo A, Yelnik C, Blom D, Génin E, Bogsrud MP, Leren TP, Boileau C, Abifadel M, Rabès JP, Varret M. Azar Y, et al. Among authors: leren tp. Atherosclerosis. 2024 Dec;399:118596. doi: 10.1016/j.atherosclerosis.2024.118596. Epub 2024 Sep 13. Atherosclerosis. 2024. PMID: 39500114 Free article.
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine.
Strøm TB, Asprusten E, Laerdahl JK, Øygard I, Hussain MM, Bogsrud MP, Leren TP. Strøm TB, et al. Among authors: leren tp. J Clin Lipidol. 2023 Nov-Dec;17(6):800-807. doi: 10.1016/j.jacl.2023.08.009. Epub 2023 Sep 9. J Clin Lipidol. 2023. PMID: 37718180 Free article.
192 results