PubMed

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

A two-base deletion -439delGC in the melanocortin-4 receptor promoter associated with early-onset obesity.

Valli-Jaakola K, Palvimo JJ, Lipsanen-Nyman M, Salomaa V, Peltonen L, Kontula K, Schalin-Jäntti C.

Horm Res. 2006;66(2):61-9. Epub 2006 May 19.PMID: 16710097 [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

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

Calton MA, Ersoy BA, Zhang S, Kane JP, Malloy MJ, Pullinger CR, Bromberg Y, Pennacchio LA, Dent R, McPherson R, Ahituv N, Vaisse C.

Hum Mol Genet. 2009 Mar 15;18(6):1140-7. Epub 2008 Dec 17.PMID: 19091795 [PubMed - indexed for MEDLINE]Related articles

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

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis.

Hainerová I, Larsen LH, Holst B, Finková M, Hainer V, Lebl J, Hansen T, Pedersen O.

J Clin Endocrinol Metab. 2007 Sep;92(9):3689-96. Epub 2007 Jun 19.PMID: 17579204 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

Hinney A, Bettecken T, Tarnow P, Brumm H, Reichwald K, Lichtner P, Scherag A, Nguyen TT, Schlumberger P, Rief W, Vollmert C, Illig T, Wichmann HE, Schäfer H, Platzer M, Biebermann H, Meitinger T, Hebebrand J.

J Clin Endocrinol Metab. 2006 May;91(5):1761-9. Epub 2006 Feb 21.PMID: 16492696 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel melanocortin 4 receptor gene mutations in severely obese children.

Lee YS, Poh LK, Kek BL, Loke KY.

Clin Endocrinol (Oxf). 2008 Apr;68(4):529-35. Epub 2007 Oct 17.PMID: 17941900 [PubMed - indexed for MEDLINE]Related articles

Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity.

Santoro N, Cirillo G, Xiang Z, Tanas R, Greggio N, Morino G, Iughetti L, Vottero A, Salvatoni A, Di Pietro M, Balsamo A, Crinò A, Grandone A, Haskell-Luevano C, Perrone L, del Giudice EM.

BMC Med Genet. 2009 Mar 12;10:25.PMID: 19284607 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity.

Rettenbacher E, Tarnow P, Brumm H, Prayer D, Wermter AK, Hebebrand J, Biebermann H, Hinney A, Widhalm K.

Exp Clin Endocrinol Diabetes. 2007 Jan;115(1):7-12.PMID: 17286227 [PubMed - indexed for MEDLINE]Related articles

Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity.

Miraglia Del Giudice E, Cirillo G, Nigro V, Santoro N, D'Urso L, Raimondo P, Cozzolino D, Scafato D, Perrone L.

Int J Obes Relat Metab Disord. 2002 May;26(5):647-51.PMID: 12032748 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation Thr162Arg of the melanocortin 4 receptor gene in a Spanish children and adolescent population.

Ochoa MC, Azcona C, Biebermann H, Brumm H, Razquin C, Wermter AK, Martínez JA, Hebebrand J, Hinney A, Moreno-Aliaga MJ, Marti A, Patiño A, Chueca M, Oyarzabal M, Pelach R; Grupo de Estudio Navarro de la Obesidad Infantil (GENOI).

Clin Endocrinol (Oxf). 2007 May;66(5):652-8.PMID: 17492953 [PubMed - indexed for MEDLINE]Related articles

Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity.

Dubern B, Bisbis S, Talbaoui H, Le Beyec J, Tounian P, Lacorte JM, Clément K.

J Pediatr. 2007 Jun;150(6):613-7, 617.e1.PMID: 17517245 [PubMed - indexed for MEDLINE]Related articles

[Prevalence of melanocortin 4 receptor (MC4R) mutations and polymorphismsin consecutively ascertained obese children and adolescents from a pediatric health care utilization population]

Zakel UA, Wudy SA, Heinzel-Gutenbrunner M, Görg T, Schäfer H, Gortner L, Blum WF, Hebebrand J, Hinney A.

Klin Padiatr. 2005 Jul-Aug;217(4):244-9. German. PMID: 16032553 [PubMed - indexed for MEDLINE]Related articles

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

Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians.

Ma L, Tataranni PA, Bogardus C, Baier LJ.

Diabetes. 2004 Oct;53(10):2696-9.PMID: 15448103 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.

Valli-Jaakola K, Lipsanen-Nyman M, Oksanen L, Hollenberg AN, Kontula K, Bjørbaek C, Schalin-Jäntti C.

J Clin Endocrinol Metab. 2004 Feb;89(2):940-5.PMID: 14764818 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway.

Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L.

Exp Clin Endocrinol Diabetes. 2009 Jun;117(6):266-73. Epub 2009 Mar 19.PMID: 19301229 [PubMed - indexed for MEDLINE]Related articles

Identification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population.

Rong R, Tao YX, Cheung BM, Xu A, Cheung GC, Lam KS.

Clin Endocrinol (Oxf). 2006 Aug;65(2):198-205.PMID: 16886960 [PubMed - indexed for MEDLINE]Related articles

Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.

Larsen LH, Echwald SM, Sørensen TI, Andersen T, Wulff BS, Pedersen O.

J Clin Endocrinol Metab. 2005 Jan;90(1):219-24. Epub 2004 Oct 14.PMID: 15486053 [PubMed - indexed for MEDLINE]Related articlesFree article