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Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia.
Dijk W, Di Filippo M, Kooijman S, van Eenige R, Rimbert A, Caillaud A, Thedrez A, Arnaud L, Pronk A, Garçon D, Sotin T, Lindenbaum P, Ozcariz Garcia E, Pais de Barros JP, Duvillard L, Si-Tayeb K, Amigo N, Le Questel JY, Rensen PCN, Le May C, Moulin P, Cariou B. Dijk W, et al. Among authors: moulin p. Circulation. 2022 Sep 6;146(10):724-739. doi: 10.1161/CIRCULATIONAHA.121.057978. Epub 2022 Jul 28. Circulation. 2022. PMID: 35899625 Free PMC article.
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M, Marçais C, Charrière S, Marmontel O, Broyer M, Delay M, Merlin M, Nollace A, Valéro R, Lagarde M, Pruneta-Deloche V, Moulin P, Sassolas A. Di Filippo M, et al. Among authors: moulin p. PLoS One. 2014 May 2;9(5):e96482. doi: 10.1371/journal.pone.0096482. eCollection 2014. PLoS One. 2014. PMID: 24788417 Free PMC article.
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
Di Filippo M, Moulin P, Roy P, Samson-Bouma ME, Collardeau-Frachon S, Chebel-Dumont S, Peretti N, Dumortier J, Zoulim F, Fontanges T, Parini R, Rigoldi M, Furlan F, Mancini G, Bonnefont-Rousselot D, Bruckert E, Schmitz J, Scoazec JY, Charrière S, Villar-Fimbel S, Gottrand F, Dubern B, Doummar D, Joly F, Liard-Meillon ME, Lachaux A, Sassolas A. Di Filippo M, et al. Among authors: moulin p. J Hepatol. 2014 Oct;61(4):891-902. doi: 10.1016/j.jhep.2014.05.023. Epub 2014 May 16. J Hepatol. 2014. PMID: 24842304
Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter.
Caussy C, Charrière S, Meirhaeghe A, Dallongeville J, Lefai E, Rome S, Cuerq C, Euthine V, Delay M, Marmontel O, Di Filippo M, Lagarde M, Moulin P, Marçais C. Caussy C, et al. Among authors: moulin p. Atherosclerosis. 2016 Mar;246:280-6. doi: 10.1016/j.atherosclerosis.2016.01.010. Epub 2016 Jan 11. Atherosclerosis. 2016. PMID: 26820803
New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.
Serveaux Dancer M, Di Filippo M, Marmontel O, Valéro R, Piombo Rivarola MDC, Peretti N, Caussy C, Krempf M, Vergès B, Mahl M, Marçais C, Moulin P, Charrière S. Serveaux Dancer M, et al. Among authors: moulin p. J Clin Lipidol. 2018 Sep-Oct;12(5):1244-1252. doi: 10.1016/j.jacl.2018.06.018. Epub 2018 Jul 7. J Clin Lipidol. 2018. PMID: 30037590
395 results