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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: auclair m. 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.
Lipodystrophic syndromes: From diagnosis to treatment.
Sollier C, Vatier C, Capel E, Lascols O, Auclair M, Janmaat S, Fève B, Jéru I, Vigouroux C. Sollier C, et al. Among authors: auclair m. Ann Endocrinol (Paris). 2020 Feb;81(1):51-60. doi: 10.1016/j.ando.2019.10.003. Epub 2019 Dec 16. Ann Endocrinol (Paris). 2020. PMID: 31982105 Review.
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. J Clin Endocrinol Metab. 1999 Sep;84(9):3197-206. doi: 10.1210/jcem.84.9.5965. J Clin Endocrinol Metab. 1999. PMID: 10487687
MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.
Capel E, Vatier C, Cervera P, Stojkovic T, Disse E, Cottereau AS, Auclair M, Verpont MC, Mosbah H, Gourdy P, Barraud S, Miquel A, Züchner S, Bonnefond A, Froguel P, Christin-Maitre S, Delemer B, Fève B, Laville M, Robert J, Tenenbaum F, Lascols O, Vigouroux C, Jéru I. Capel E, et al. Among authors: auclair m. J Clin Lipidol. 2018 Nov-Dec;12(6):1420-1435. doi: 10.1016/j.jacl.2018.07.009. Epub 2018 Jul 25. J Clin Lipidol. 2018. PMID: 30158064
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: auclair m. 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
197 results