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Items: 1 to 20 of 84

1.

Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability.

Moore BS, Mirshahi T.

Sci Rep. 2018 Jul 10;8(1):10397. doi: 10.1038/s41598-018-28758-3.

2.

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
3.

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
4.

Loss-of-function mutations in MC4R are very rare in the Greek severely obese adult population.

Rouskas K, Meyre D, Stutzmann F, Paletas K, Papazoglou D, Vatin V, Marchand M, Kouvatsi A, Froguel P.

Obesity (Silver Spring). 2012 Nov;20(11):2278-82. doi: 10.1038/oby.2012.77. Epub 2012 Mar 26.

5.

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
6.
7.

The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity.

Rovite V, Petrovska R, Vaivade I, Kalnina I, Fridmanis D, Zaharenko L, Peculis R, Pirags V, Schioth HB, Klovins J.

Mol Biol Rep. 2014 Mar;41(3):1491-500. doi: 10.1007/s11033-013-2994-4. Epub 2014 Jan 3.

PMID:
24385306
8.

Clinical and functional relevance of melanocortin-4 receptor variants in obese German children.

Melchior C, Schulz A, Windholz J, Kiess W, Schöneberg T, Körner A.

Horm Res Paediatr. 2012;78(4):237-46. doi: 10.1159/000343816. Epub 2012 Nov 6.

PMID:
23146882
9.

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
10.

Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.

Moore BS, Mirshahi UL, Yost EA, Stepanchick AN, Bedrin MD, Styer AM, Jackson KK, Still CD, Breitwieser GE, Gerhard GS, Carey DJ, Mirshahi T.

PLoS One. 2014 Apr 4;9(4):e93629. doi: 10.1371/journal.pone.0093629. eCollection 2014.

11.

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. doi: 10.1093/hmg/ddn431. Epub 2008 Dec 17.

12.

A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.

Granell S, Serra-Juhé C, Martos-Moreno GÁ, Díaz F, Pérez-Jurado LA, Baldini G, Argente J.

PLoS One. 2012;7(12):e50894. doi: 10.1371/journal.pone.0050894. Epub 2012 Dec 12.

13.

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.

14.

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
15.

Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.

van den Berg L, van Beekum O, Heutink P, Felius BA, van de Heijning MP, Strijbis S, van Spaendonk R, Piancatelli D, Garner KM, El Aouad R, Sistermans E, Adan RA, Delemarre-van de Waal HA.

Obesity (Silver Spring). 2011 Mar;19(3):604-11. doi: 10.1038/oby.2010.259. Epub 2010 Oct 21. Erratum in: Obesity (Silver Spring). 2011 Jun;19(6):1318.

16.

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
17.

Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient.

da Fonseca ACP, Abreu GM, Zembrzuski VM, Junior MC, Carneiro JRI, Magno FCCM, Rosado EL, Nogueira Neto JF, de Cabello GMK, Cabello PH.

Diabetes Metab Syndr Obes. 2019 Feb 21;12:257-266. doi: 10.2147/DMSO.S189455. eCollection 2019.

18.

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
19.

Functional characterization of variants in MC4R gene promoter region found in obese children.

Tan KM, Ooi SQ, Ong SG, Kwan CS, Chan RM, Seng Poh LK, Mendoza J, Heng CK, Loke KY, Lee YS.

J Clin Endocrinol Metab. 2014 May;99(5):E931-5. doi: 10.1210/jc.2013-3711. Epub 2014 Feb 10.

PMID:
24512492
20.

The genetic epidemiology of melanocortin 4 receptor variants.

Loos RJ.

Eur J Pharmacol. 2011 Jun 11;660(1):156-64. doi: 10.1016/j.ejphar.2011.01.033. Epub 2011 Feb 2. Review.

PMID:
21295023

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