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Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.
Collet TH, Dubern B, Mokrosinski J, Connors H, Keogh JM, Mendes de Oliveira E, Henning E, Poitou-Bernert C, Oppert JM, Tounian P, Marchelli F, Alili R, Le Beyec J, Pépin D, Lacorte JM, Gottesdiener A, Bounds R, Sharma S, Folster C, Henderson B, O'Rahilly S, Stoner E, Gottesdiener K, Panaro BL, Cone RD, Clément K, Farooqi IS, Van der Ploeg LHT. Collet TH, et al. Among authors: tounian p. Mol Metab. 2017 Oct;6(10):1321-1329. doi: 10.1016/j.molmet.2017.06.015. Epub 2017 Jul 8. Mol Metab. 2017. PMID: 29031731 Free PMC article. Clinical Trial.
Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain.
Dubern B, Lubrano-Berthelier C, Mencarelli M, Ersoy B, Frelut ML, Bouglé D, Costes B, Simon C, Tounian P, Vaisse C, Clement K. Dubern B, et al. Among authors: tounian p. Pediatr Res. 2008 Feb;63(2):211-6. doi: 10.1203/PDR.0b013e31815ed62b. Pediatr Res. 2008. PMID: 18091355
Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.
Huvenne H, Le Beyec J, Pépin D, Alili R, Kherchiche PP, Jeannic E, Frelut ML, Lacorte JM, Nicolino M, Viard A, Laville M, Ledoux S, Tounian P, Poitou C, Dubern B, Clément K. Huvenne H, et al. Among authors: tounian p. J Clin Endocrinol Metab. 2015 May;100(5):E757-66. doi: 10.1210/jc.2015-1036. Epub 2015 Mar 9. J Clin Endocrinol Metab. 2015. PMID: 25751111
150 results