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Items: 1 to 20 of 76

1.

Common polymorphism (81Val>Ile) and rare mutations (257Arg>Ser and 335Ile>Ser) of the MC3R gene in obese Polish children and adolescents.

Cieslak J, Majewska KA, Tomaszewska A, Skowronska B, Fichna P, Switonski M.

Mol Biol Rep. 2013 Dec;40(12):6893-8. doi: 10.1007/s11033-013-2808-8. Epub 2013 Oct 20.

2.

Prevalence of rare MC3R variants in obese cases and lean controls.

Zegers D, Beckers S, Hendrickx R, Van Camp JK, Van Hoorenbeeck K, Desager KN, Massa G, Van Gaal LF, Van Hul W.

Endocrine. 2013 Oct;44(2):386-90. doi: 10.1007/s12020-012-9862-1. Epub 2012 Dec 24.

PMID:
23264184
4.

Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index.

Nowacka-Woszuk J, Cieslak J, Skowronska B, Majewska KA, Stankiewicz W, Fichna P, Switonski M.

J Appl Genet. 2011 Aug;52(3):319-23. doi: 10.1007/s13353-011-0036-2. Epub 2011 Mar 15.

5.

Identification of three novel genetic variants in the melanocortin-3 receptor of obese children.

Zegers D, Beckers S, de Freitas F, Peeters AV, Mertens IL, Verhulst SL, Rooman RP, Timmermans JP, Desager KN, Massa G, Van Gaal LF, Van Hul W.

Obesity (Silver Spring). 2011 Jan;19(1):152-9. doi: 10.1038/oby.2010.127. Epub 2010 Jun 10.

6.

Effect of the melanocortin-3 receptor Thr6Lys and Val81Ile genetic variants on body composition and substrate oxidation in Chilean obese children.

Obregón AM, Diaz E, Santos JL.

J Physiol Biochem. 2012 Mar;68(1):71-6. doi: 10.1007/s13105-011-0120-4. Epub 2011 Oct 8.

PMID:
21983807
7.

The role of melanocortin 3 receptor gene in childhood obesity.

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

Diabetes. 2007 Oct;56(10):2622-30. Epub 2007 Jul 16.

8.

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.

Hinney A, Schmidt A, Nottebom K, Heibült O, Becker I, Ziegler A, Gerber G, Sina M, Görg T, Mayer H, Siegfried W, Fichter M, Remschmidt H, Hebebrand J.

J Clin Endocrinol Metab. 1999 Apr;84(4):1483-6.

PMID:
10199800
9.

Melanocortin 3 receptor (MC3R) gene variants in extremely obese women.

Li WD, Joo EJ, Furlong EB, Galvin M, Abel K, Bell CJ, Price RA.

Int J Obes Relat Metab Disord. 2000 Feb;24(2):206-10.

PMID:
10702772
10.

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.

Mencarelli M, Dubern B, Alili R, Maestrini S, Benajiba L, Tagliaferri M, Galan P, Rinaldi M, Simon C, Tounian P, Hercberg S, Liuzzi A, Di Blasio AM, Clement K.

Hum Mol Genet. 2011 Jan 15;20(2):392-9. doi: 10.1093/hmg/ddq472. Epub 2010 Nov 3.

PMID:
21047972
11.

Genetic variant screening of MC3R and MC4R genes in early-onset obese children and their relatives among a Thai population: family-based study.

Wannaiampikul S, Phonrat B, Tungtrongchitr A, Limwongse C, Chongviriyaphan N, Santiprabhob J, Tungtrongchitr R.

Genet Mol Res. 2015 Dec 22;14(4):18090-102. doi: 10.4238/2015.December.22.35.

12.

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.

13.

A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population.

Marti A, Corbalán MS, Forga L, Martinez JA, Hinney A, Hebebrand J.

Int J Obes Relat Metab Disord. 2003 Mar;27(3):385-8.

PMID:
12629567
14.

Sporadic mutations in melanocortin receptor 3 in morbid obese individuals.

Mencarelli M, Walker GE, Maestrini S, Alberti L, Verti B, Brunani A, Petroni ML, Tagliaferri M, Liuzzi A, Di Blasio AM.

Eur J Hum Genet. 2008 May;16(5):581-6. doi: 10.1038/sj.ejhg.5202005. Epub 2008 Jan 30.

15.

Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations.

Miraglia del Giudice E, Cirillo G, Santoro N, D'Urso L, Carbone MT, Di Toro R, Perrone L.

Int J Obes Relat Metab Disord. 2001 Jan;25(1):61-7.

PMID:
11244459
16.

A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity.

Lee YS, Poh LK, Loke KY.

J Clin Endocrinol Metab. 2002 Mar;87(3):1423-6.

PMID:
11889220
17.

Melanocortin 3 receptor gene and melanocortin 4 receptor gene mutations: the Asian Perspective.

Lee YS.

Diabetes Metab Res Rev. 2012 Dec;28 Suppl 2:26-31. doi: 10.1002/dmrr.2351. Review.

PMID:
23280863
18.

Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children.

Dubern B, Clément K, Pelloux V, Froguel P, Girardet JP, Guy-Grand B, Tounian P.

J Pediatr. 2001 Aug;139(2):204-9.

PMID:
11487744
19.

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
20.

Obesity and eating behaviour in a three-generation Chilean family with carriers of the Thrl50Ile mutation in the melanocortin-4 receptor gene.

Santos JL, Amador P, Valladares M, Albala C, Martínez JA, Marti A.

J Physiol Biochem. 2008 Sep;64(3):205-10.

PMID:
19244934

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