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Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J. Kim CA, et al. Among authors: magre j. J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. doi: 10.1210/jc.2007-1328. Epub 2008 Jan 22. J Clin Endocrinol Metab. 2008. PMID: 18211975 Free article.
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
Antuna-Puente B, Boutet E, Vigouroux C, Lascols O, Slama L, Caron-Debarle M, Khallouf E, Lévy-Marchal C, Capeau J, Bastard JP, Magré J. Antuna-Puente B, et al. Among authors: magre j. J Clin Endocrinol Metab. 2010 Mar;95(3):1463-8. doi: 10.1210/jc.2009-1824. Epub 2010 Jan 22. J Clin Endocrinol Metab. 2010. PMID: 20097706
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
Boutet E, El Mourabit H, Prot M, Nemani M, Khallouf E, Colard O, Maurice M, Durand-Schneider AM, Chrétien Y, Grès S, Wolf C, Saulnier-Blache JS, Capeau J, Magré J. Boutet E, et al. Among authors: magre j. Biochimie. 2009 Jun;91(6):796-803. doi: 10.1016/j.biochi.2009.01.011. Epub 2009 Feb 6. Biochimie. 2009. PMID: 19278620
114 results