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Page 1
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Rivière JB. Thauvin-Robinet C, et al. Among authors: capeau j. Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810378 Free PMC article.
[Lipodystrophies].
Fardet L, Vigouroux C, Capeau J. Fardet L, et al. Among authors: capeau j. Rev Med Interne. 2013 Oct;34(10):614-22. doi: 10.1016/j.revmed.2012.11.008. Epub 2012 Dec 31. Rev Med Interne. 2013. PMID: 23287278 Review. French.
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.
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
Antiinsulin receptor autoantibodies induce insulin receptors to constitutively associate with insulin receptor substrate-1 and -2 and cause severe cell resistance to both insulin and insulin-like growth factor I.
Auclair M, Vigouroux C, Desbois-Mouthon C, Deibener J, Kaminski P, Lascols O, Cherqui G, Capeau J, Caron M. Auclair M, et al. Among authors: capeau j. J Clin Endocrinol Metab. 1999 Sep;84(9):3197-206. doi: 10.1210/jcem.84.9.5965. J Clin Endocrinol Metab. 1999. PMID: 10487687
Ten-year improvement of insulin resistance and growth with recombinant human insulin-like growth factor 1 in a patient with insulin receptor mutations resulting in leprechaunism.
de Kerdanet M, Caron-Debarle M, Nivot S, Gaillot T, Lascols O, Fremont B, Bonaure M, Gie S, Massart C, Capeau J. de Kerdanet M, et al. Among authors: capeau j. Diabetes Metab. 2015 Sep;41(4):331-337. doi: 10.1016/j.diabet.2014.11.001. Epub 2014 Nov 25. Diabetes Metab. 2015. PMID: 25465274
359 results