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Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.
Vigouroux C, Guénantin AC, Vatier C, Capel E, Le Dour C, Afonso P, Bidault G, Béréziat V, Lascols O, Capeau J, Briand N, Jéru I. Vigouroux C, et al. Among authors: capeau j. Nucleus. 2018 Jan 1;9(1):235-248. doi: 10.1080/19491034.2018.1456217. Nucleus. 2018. PMID: 29578370 Free PMC article. Review.
[Leptin, adiponectin, lipodystrophic and severe insulin resistance syndromes].
Vatier C, Jéru I, Fellahi S, Capeau J, Bastard JP, Vigouroux C; groupe de travail RIHN Adipokines. Vatier C, et al. Among authors: capeau j. Ann Biol Clin (Paris). 2020 Jun 1;78(3):261-264. doi: 10.1684/abc.2020.1551. Ann Biol Clin (Paris). 2020. PMID: 32420889 Free article. Review. French.
Nuclear envelope-related lipodystrophies.
Guénantin AC, Briand N, Bidault G, Afonso P, Béréziat V, Vatier C, Lascols O, Caron-Debarle M, Capeau J, Vigouroux C. Guénantin AC, et al. Among authors: capeau j. Semin Cell Dev Biol. 2014 May;29:148-57. doi: 10.1016/j.semcdb.2013.12.015. Epub 2013 Dec 30. Semin Cell Dev Biol. 2014. PMID: 24384368 Review.
A-type lamin-linked lipodystrophies.
Vigouroux C, Capeau J. Vigouroux C, et al. Among authors: capeau j. Novartis Found Symp. 2005;264:166-77; discussion 177-82, 227-30. Novartis Found Symp. 2005. PMID: 15773753 Review.
Type A insulin resistance syndrome revealing a novel lamin A mutation.
Young J, Morbois-Trabut L, Couzinet B, Lascols O, Dion E, Béréziat V, Fève B, Richard I, Capeau J, Chanson P, Vigouroux C. Young J, et al. Among authors: capeau j. Diabetes. 2005 Jun;54(6):1873-8. doi: 10.2337/diabetes.54.6.1873. Diabetes. 2005. PMID: 15919811
Perilipin deficiency and autosomal dominant partial lipodystrophy.
Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delépine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J, O'Rahilly S, Magré J, Savage DB, Vigouroux C. Gandotra S, et al. Among authors: capeau j. N Engl J Med. 2011 Feb 24;364(8):740-8. doi: 10.1056/NEJMoa1007487. N Engl J Med. 2011. PMID: 21345103 Free PMC article.
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
355 results