메뉴 건너뛰기




Volumn 92, Issue 9, 2007, Pages 3689-3696

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

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; MELANOCORTIN 4 RECEPTOR;

EID: 34548797260     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-0352     Document Type: Article
Times cited : (82)

References (40)
  • 1
    • 0000067107 scopus 로고    scopus 로고
    • Genetics and pathophysiology of human obesity
    • Cummings DE, Schwartz MW 2003 Genetics and pathophysiology of human obesity. Annu Rev Med 54:453-471
    • (2003) Annu Rev Med , vol.54 , pp. 453-471
    • Cummings, D.E.1    Schwartz, M.W.2
  • 2
    • 0032582848 scopus 로고    scopus 로고
    • Evidence for involvement of the melanocortin MC4 receptor in the effects of leptin on food intake and body weight
    • Kask A, Rago L, Wikberg JES, Schioth HB 1998 Evidence for involvement of the melanocortin MC4 receptor in the effects of leptin on food intake and body weight. Eur J Pharmacol 360:15-19
    • (1998) Eur J Pharmacol , vol.360 , pp. 15-19
    • Kask, A.1    Rago, L.2    Wikberg, J.E.S.3    Schioth, H.B.4
  • 5
    • 0033927916 scopus 로고    scopus 로고
    • Melanocortin-4 receptor mutations are a frequent and heterozygous cause of morbid obesity
    • Vaisse C, Clément K, Durand E, Hercberg S, Guy-Grand B, Froguel P 2000 Melanocortin-4 receptor mutations are a frequent and heterozygous cause of morbid obesity. J Clin Invest 106:253-262
    • (2000) J Clin Invest , vol.106 , pp. 253-262
    • Vaisse, C.1    Clément, K.2    Durand, E.3    Hercberg, S.4    Guy-Grand, B.5    Froguel, P.6
  • 7
    • 0028134706 scopus 로고
    • Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain
    • Mountjoy KG, Mortrud MT, Low MJ, Simerly RB, Cone RD 1994 Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain. Mol Endocrinol 8:1298-1308
    • (1994) Mol Endocrinol , vol.8 , pp. 1298-1308
    • Mountjoy, K.G.1    Mortrud, M.T.2    Low, M.J.3    Simerly, R.B.4    Cone, R.D.5
  • 8
    • 20544469112 scopus 로고    scopus 로고
    • Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity
    • Tao XY 2005 Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity. Mol Cell Endocrinol 239:1-14
    • (2005) Mol Cell Endocrinol , vol.239 , pp. 1-14
    • Tao, X.Y.1
  • 9
    • 0034905674 scopus 로고    scopus 로고
    • Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children
    • Dubern B, Clément K, Pelloux V, Froguel P, Girardet JP, Guy-Grand B, Tounian P 2001 Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children. J Pediatr 139:204-209
    • (2001) J Pediatr , vol.139 , pp. 204-209
    • Dubern, B.1    Clément, K.2    Pelloux, V.3    Froguel, P.4    Girardet, J.P.5    Guy-Grand, B.6    Tounian, P.7
  • 11
    • 0033362016 scopus 로고    scopus 로고
    • Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene
    • Sina M, Hinney A, Ziegler A, Neupert T, Mayer H, Siegfried W, Blum WF, Remschmidt H, Hebebrand J 1999 Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. Am J Hum Genet 65:1501-1507
    • (1999) Am J Hum Genet , vol.65 , pp. 1501-1507
    • Sina, M.1    Hinney, A.2    Ziegler, A.3    Neupert, T.4    Mayer, H.5    Siegfried, W.6    Blum, W.F.7    Remschmidt, H.8    Hebebrand, J.9
  • 12
    • 0041708012 scopus 로고    scopus 로고
    • Binge eating as a phenotype of melanocortin 4 receptor gene mutations
    • Herpertz S, Siffert W, Hebebrand J 2003 Binge eating as a phenotype of melanocortin 4 receptor gene mutations. N Engl J Med 349:606-609
    • (2003) N Engl J Med , vol.349 , pp. 606-609
    • Herpertz, S.1    Siffert, W.2    Hebebrand, J.3
  • 13
    • 0034913118 scopus 로고    scopus 로고
    • A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity
    • Mergen M, Mergen H, Ozata M, Oner Reyhan, Oner C 2001 A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. J Clin Endocrinol Metab 86:3448-3451
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3448-3451
    • Mergen, M.1    Mergen, H.2    Ozata, M.3
  • 18
    • 0033544936 scopus 로고    scopus 로고
    • Functional characterization of mutations in melanocortin-4 receptor associated with human obesity
    • Ho G, MacKenzie RG 1999 Functional characterization of mutations in melanocortin-4 receptor associated with human obesity. J Biol Chem 274:35816-35822
    • (1999) J Biol Chem , vol.274 , pp. 35816-35822
    • Ho, G.1    MacKenzie, R.G.2
  • 20
    • 85030504668 scopus 로고    scopus 로고
    • Young EH, Wareham NJ, Farooqi S, Hinney A, Hebebrand J, Scherag A, O'Rahilly S, Barroso I, Sandhu MS, The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29,563 individuals. Int J Obes (Lond), in press
    • Young EH, Wareham NJ, Farooqi S, Hinney A, Hebebrand J, Scherag A, O'Rahilly S, Barroso I, Sandhu MS, The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29,563 individuals. Int J Obes (Lond), in press
  • 21
    • 28544447162 scopus 로고    scopus 로고
    • Heid IM, Vollmert C, Hinney A, Doring A, Geller F, Lowel H, Wichmann H-E, Illig T, Hebebrand J, Kronenberg F; the KORA Group 2005 Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. J Med Genet 42:e21.
    • Heid IM, Vollmert C, Hinney A, Doring A, Geller F, Lowel H, Wichmann H-E, Illig T, Hebebrand J, Kronenberg F; the KORA Group 2005 Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. J Med Genet 42:e21.
  • 22
    • 33745036725 scopus 로고    scopus 로고
    • Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist
    • Xiang Z, Litherland SA, Sorensen NB, Proneth B, Wood MS, Shaw AM, Millard WJ, Haskell-Luevano C 2006 Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. Biochemistry 45:7277-7288
    • (2006) Biochemistry , vol.45 , pp. 7277-7288
    • Xiang, Z.1    Litherland, S.A.2    Sorensen, N.B.3    Proneth, B.4    Wood, M.S.5    Shaw, A.M.6    Millard, W.J.7    Haskell-Luevano, C.8
  • 23
    • 4744350773 scopus 로고    scopus 로고
    • The 6th nationwide anthropological survey of children and adolescents in the Czech Republic in 2001
    • Kobzova J, Vignerova J, Blaha P, Krejcovsky L, Riedlova J 2004 The 6th nationwide anthropological survey of children and adolescents in the Czech Republic in 2001. Cent Eur J Public Health 12:126-130
    • (2004) Cent Eur J Public Health , vol.12 , pp. 126-130
    • Kobzova, J.1    Vignerova, J.2    Blaha, P.3    Krejcovsky, L.4    Riedlova, J.5
  • 25
    • 0024520745 scopus 로고
    • Site-directed mutagenesis by overlap extension using the polymerase chain reaction
    • Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR 1989 Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77:51-59
    • (1989) Gene , vol.77 , pp. 51-59
    • Ho, S.N.1    Hunt, H.D.2    Horton, R.M.3    Pullen, J.K.4    Pease, L.R.5
  • 26
    • 0037387146 scopus 로고    scopus 로고
    • Regulation of melanocortin-4 receptor signaling: Agonist-mediated desensitization and internalization
    • Shinyama H, Masuzaki H, Fang H, Flier JS 2003 Regulation of melanocortin-4 receptor signaling: agonist-mediated desensitization and internalization. Endocrinology 144:1301-1314
    • (2003) Endocrinology , vol.144 , pp. 1301-1314
    • Shinyama, H.1    Masuzaki, H.2    Fang, H.3    Flier, J.S.4
  • 28
    • 9644279627 scopus 로고    scopus 로고
    • Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans
    • Srinivasan S, Lubrano-Berthelier C, Govaerts C, Picard F, Santiago P, Conklin BR, Vaisse C 2004 Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. J Clin Invest 114:1158-1164
    • (2004) J Clin Invest , vol.114 , pp. 1158-1164
    • Srinivasan, S.1    Lubrano-Berthelier, C.2    Govaerts, C.3    Picard, F.4    Santiago, P.5    Conklin, B.R.6    Vaisse, C.7
  • 31
    • 12244281827 scopus 로고    scopus 로고
    • Prevalence of mutations and functional functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity
    • Larsen LH, Echwald SM, Sørensen TIA, Andersen T, Wulff BS, Pedersen O 2005 Prevalence of mutations and functional functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. J Clin Endocrinol Metab 90:219-224
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 219-224
    • Larsen, L.H.1    Echwald, S.M.2    Sørensen, T.I.A.3    Andersen, T.4    Wulff, B.S.5    Pedersen, O.6
  • 35
    • 0031662163 scopus 로고    scopus 로고
    • A frameshift mutation in human MC4R is associated with a dominant form of obesity
    • Vaisse C, Clément K, Guy-Grand B, Froguel P 1998 A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet 20:113-114
    • (1998) Nat Genet , vol.20 , pp. 113-114
    • Vaisse, C.1    Clément, K.2    Guy-Grand, B.3    Froguel, P.4
  • 38
    • 0041708012 scopus 로고    scopus 로고
    • Binge eating as a phenotype of melanocortin 4 receptor gene mutations (authors' reply)
    • Gotoda T 2003 Binge eating as a phenotype of melanocortin 4 receptor gene mutations (authors' reply). N Engl J Med 349:606-609
    • (2003) N Engl J Med , vol.349 , pp. 606-609
    • Gotoda, T.1
  • 39
    • 33845651063 scopus 로고    scopus 로고
    • Binge eating as a phenotype of melanocortin 4 receptor gene mutations (authors' reply)
    • Farooqi IS, Yeo GS, O'Rahilly S 2003 Binge eating as a phenotype of melanocortin 4 receptor gene mutations (authors' reply). N Engl J Med 349:606-609
    • (2003) N Engl J Med , vol.349 , pp. 606-609
    • Farooqi, I.S.1    Yeo, G.S.2    O'Rahilly, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.