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359 results

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Page 1
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: capeau 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: capeau 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: capeau j. Biochimie. 2009 Jun;91(6):796-803. doi: 10.1016/j.biochi.2009.01.011. Epub 2009 Feb 6. Biochimie. 2009. PMID: 19278620
A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont ML, Maubert MA, Auclair M, Jeziorowska D, Reznik Y, Béréziat V, Capeau J, Lascols O, Vigouroux C. Le Dour C, et al. Among authors: capeau j. J Clin Endocrinol Metab. 2011 May;96(5):E856-62. doi: 10.1210/jc.2010-2234. Epub 2011 Feb 23. J Clin Endocrinol Metab. 2011. PMID: 21346069
Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system.
Auclair M, Vigouroux C, Boccara F, Capel E, Vigeral C, Guerci B, Lascols O, Capeau J, Caron-Debarle M. Auclair M, et al. Among authors: capeau j. Arterioscler Thromb Vasc Biol. 2013 Apr;33(4):829-38. doi: 10.1161/ATVBAHA.112.300962. Epub 2013 Feb 7. Arterioscler Thromb Vasc Biol. 2013. PMID: 23393388
359 results