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Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization.

Biebermann H, Krude H, Elsner A, Chubanov V, Gudermann T, Grüters A.

Diabetes. 2003 Dec;52(12):2984-8.PMID: 14633860 [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

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

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency.

Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S.

J Clin Invest. 2000 Jul;106(2):271-9.PMID: 10903343 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

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

Intracellular retention of human melanocortin-4 receptor: a molecular mechanism underlying early-onset obesity in F261S pedigree of Chinese.

Fang QC, Jia WP, Cai SB, Shao XY, Zhang R, Wang CR, Bao YQ, Xiang KS.

Biomed Environ Sci. 2008 Aug;21(4):280-5.PMID: 18837289 [PubMed - indexed for MEDLINE]Related articles

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

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

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity.

Roth CL, Ludwig M, Woelfle J, Fan ZC, Brumm H, Biebermann H, Tao YX.

Endocrine. 2009 Aug;36(1):52-9. Epub 2009 Feb 12.PMID: 19214805 [PubMed - indexed for MEDLINE]Related articles

Functional characterization of mutations in melanocortin-4 receptor associated with human obesity.

Ho G, MacKenzie RG.

J Biol Chem. 1999 Dec 10;274(50):35816-22.PMID: 10585465 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.

Tao YX.

Mol Cell Endocrinol. 2005 Jul 15;239(1-2):1-14. Review.PMID: 15975705 [PubMed - indexed for MEDLINE]Related articles

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

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Tan K, Pogozheva ID, Yeo GS, Hadaschik D, Keogh JM, Haskell-Leuvano C, O'Rahilly S, Mosberg HI, Farooqi IS.

Endocrinology. 2009 Jan;150(1):114-25. Epub 2008 Sep 18.PMID: 18801902 [PubMed - indexed for MEDLINE]Related articles

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

Binge eating as a major phenotype of melanocortin 4 receptor gene mutations.

Branson R, Potoczna N, Kral JG, Lentes KU, Hoehe MR, Horber FF.

N Engl J Med. 2003 Mar 20;348(12):1096-103.PMID: 12646666 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S.

N Engl J Med. 2003 Mar 20;348(12):1085-95.PMID: 12646665 [PubMed - indexed for MEDLINE]Related articlesFree article