PubMed

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.

Pediatr Res. 2008 Feb;63(2):211-6.PMID: 18091355 [PubMed - indexed for MEDLINE]Related articles

Follow-up of GK rats during prediabetes highlights increased insulin action and fat deposition despite low insulin secretion.

Movassat J, Bailbé D, Lubrano-Berthelier C, Picarel-Blanchot F, Bertin E, Mourot J, Portha B.

Am J Physiol Endocrinol Metab. 2008 Jan;294(1):E168-75. Epub 2007 Nov 6.PMID: 17986628 [PubMed - indexed for MEDLINE]Related articlesFree article

Cart overexpression is the only identifiable cause of high bone mass in melanocortin 4 receptor deficiency.

Ahn JD, Dubern B, Lubrano-Berthelier C, Clement K, Karsenty G.

Endocrinology. 2006 Jul;147(7):3196-202. Epub 2006 Apr 13.PMID: 16614075 [PubMed - indexed for MEDLINE]Related articlesFree article

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.

Lubrano-Berthelier C, Dubern B, Lacorte JM, Picard F, Shapiro A, Zhang S, Bertrais S, Hercberg S, Basdevant A, Clement K, Vaisse C.

J Clin Endocrinol Metab. 2006 May;91(5):1811-8. Epub 2006 Feb 28.PMID: 16507637 [PubMed - indexed for MEDLINE]Related articlesFree article

Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function.

Govaerts C, Srinivasan S, Shapiro A, Zhang S, Picard F, Clement K, Lubrano-Berthelier C, Vaisse C.

Peptides. 2005 Oct;26(10):1909-19. Review.PMID: 16083993 [PubMed - indexed for MEDLINE]Related articles

[Genetics of human obesity]

Lubrano-Berthelier C, Clément K.

Rev Med Interne. 2005 Oct;26(10):802-11. Review. French. PMID: 15927311 [PubMed - indexed for MEDLINE]Related articles

Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans.

Srinivasan S, Lubrano-Berthelier C, Govaerts C, Picard F, Santiago P, Conklin BR, Vaisse C.

J Clin Invest. 2004 Oct;114(8):1158-64.PMID: 15489963 [PubMed - indexed for MEDLINE]Related articlesFree article

A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.

Lubrano-Berthelier C, Le Stunff C, Bougnères P, Vaisse C.

J Clin Endocrinol Metab. 2004 May;89(5):2028-32.PMID: 15126516 [PubMed - indexed for MEDLINE]Related articlesFree article

The human MC4R promoter: characterization and role in obesity.

Lubrano-Berthelier C, Cavazos M, Le Stunff C, Haas K, Shapiro A, Zhang S, Bougneres P, Vaisse C.

Diabetes. 2003 Dec;52(12):2996-3000.PMID: 14633862 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular genetics of human obesity-associated MC4R mutations.

Lubrano-Berthelier C, Cavazos M, Dubern B, Shapiro A, Stunff CL, Zhang S, Picart F, Govaerts C, Froguel P, Bougneres P, Clement K, Vaisse C.

Ann N Y Acad Sci. 2003 Jun;994:49-57. Review.PMID: 12851297 [PubMed - indexed for MEDLINE]Related articles

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

Lubrano-Berthelier C, Durand E, Dubern B, Shapiro A, Dazin P, Weill J, Ferron C, Froguel P, Vaisse C.

Hum Mol Genet. 2003 Jan 15;12(2):145-53.PMID: 12499395 [PubMed - indexed for MEDLINE]Related articlesFree article