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“A novel missense mutation T101N in the melanocortin-4 receptor gene associated with obesity”, vol. 10, pp. 1042-1049, 2011.
, Alberti KG and Zimmet PZ (1998). Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet. Med. 15: 539-553.
doi:10.1002/(SICI)1096-9136(199807)15:7<539::AID-DIA668>3.0.CO;2-S
Branson R, Potoczna N, Kral JG, Lentes KU, et al. (2003). Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. N. Engl. J. Med. 348: 1096-1103.
doi:10.1056/NEJMoa021971
PMid:12646666
Chen M, Cai M, Aprahamian CJ, Georgeson KE, et al. (2007). Contribution of the conserved amino acids of the melanocortin-4 receptor in [corrected] [Nle4,D-Phe7]-alpha-melanocyte-stimulating [corrected] hormone binding and signaling. J. Biol. Chem. 282: 21712-21719.
doi:10.1074/jbc.M702285200
PMid:17545153 PMCid:2704061
Dempfle A, Hinney A, Heinzel-Gutenbrunner M, Raab M, et al. (2004). Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index. J. Med. Genet. 41: 795-800.
doi:10.1136/jmg.2004.018614
PMid:15466016 PMCid:1735595
Dubern B, Clement K, Pelloux V, Froguel P, et al. (2001). Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. J. Pediatr. 139: 204-209.
doi:10.1067/mpd.2001.116284
PMid:11487744
Dubern B, Bisbis S, Talbaoui H, Le Beyec J, et al. (2007). Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity. J. Pediatr. 150: 613-7, 617.
Fan W, Boston BA, Kesterson RA, Hruby VJ, et al. (1997). Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature 385: 165-168.
doi:10.1038/385165a0
PMid:8990120
Farooqi IS, Keogh JM, Yeo GS, Lank EJ, et al. (2003). Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N. Engl. J. Med. 348: 1085-1095.
doi:10.1056/NEJMoa022050
PMid:12646665
Halaas JL, Gajiwala KS, Maffei M, Cohen SL, et al. (1995). Weight-reducing effects of the plasma protein encoded by the obese gene. Science 269: 543-546.
doi:10.1126/science.7624777
PMid:7624777
Hsu LK, Mulliken B, McDonagh B, Krupa DS, et al. (2002). Binge eating disorder in extreme obesity. Int. J. Obes. Relat. Metab. Disord. 26: 1398-1403.
doi:10.1038/sj.ijo.0802081
PMid:12355338
Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, et al. (1997). Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 88: 131-141.
doi:10.1016/S0092-8674(00)81865-6
Kobayashi H, Ogawa Y, Shintani M, Ebihara K, et al. (2002). A Novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity. Diabetes 51: 243-246.
doi:10.2337/diabetes.51.1.243
Larsen LH, Echwald SM, Sorensen TI, Andersen T, et al. (2005). Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. J. Clin. Endocrinol. Metab. 90: 219-224.
doi:10.1210/jc.2004-0497
Levin N, Nelson C, Gurney A, Vandlen R, et al. (1996). Decreased food intake does not completely account for adiposity reduction after ob protein infusion. Proc. Natl. Acad. Sci. U. S. A. 93: 1726-1730.
doi:10.1073/pnas.93.4.1726
Mountjoy KG, Mortrud MT, Low MJ, Simerly RB, et al. (1994). Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain. Mol. Endocrinol. 8: 1298-1308.
doi:10.1210/me.8.10.1298
PMid:7854347
Potoczna N, Branson R, Kral JG, Piec G, et al. (2004). Gene variants and binge eating as predictors of comorbidity and outcome of treatment in severe obesity. J. Gastrointest. Surg. 8: 971-981.
doi:10.1016/j.gassur.2004.09.032
PMid:15585384
Rettenbacher E, Tarnow P, Brumm H, Prayer D, et al. (2007). A novel non-synonymous mutation in the melanocortin-4 receptor gene (MC4R) in a 2-year-old Austrian girl with extreme obesity. Exp. Clin. Endocrinol. Diabetes 115: 7-12.
doi:10.1055/s-2007-949150
PMCid:1144279
Stäubert C, Tarnow P, Brumm H, Pitra C, et al. (2007). Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. Endocrinology 148: 4642-4648.
doi:10.1210/en.2007-0138
PMid:17628007
Stutzmann F, Tan K, Vatin V, Dina C, et al. (2008). Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes 57: 2511-2518.
doi:10.2337/db08-0153
PMid:18559663 PMCid:2518504
Tao YX and Segaloff DL (2005). Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. J. Clin. Endocrinol. Metab. 90: 5632-5638.
doi:10.1210/jc.2005-0519
Vaisse C, Clement K, Durand E, Hercberg S, et al. (2000). Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J. Clin. Invest. 106: 253-262.
doi:10.1172/JCI9238
PMid:10903341 PMCid:314306
Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, et al. (2009). Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. Exp. Clin. Endocrinol. Diabetes 117: 266-273.
doi:10.1055/s-0028-1102942
PMCid:1144279
Weigle DS, Bukowski TR, Foster DC, Holderman S, et al. (1995). Recombinant ob protein reduces feeding and body weight in the ob/ob mouse. J. Clin. Invest. 96: 2065-2070.
doi:10.1172/JCI118254
PMid:7560100 PMCid:185845