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Volumn 11, Issue 10, 2010, Pages 1092-1096

Mutations in the melanocortin-3 receptor (MC3R) gene: Impact on human obesity or adiposity

Author keywords

[No Author keywords available]

Indexed keywords

MELANOCORTIN 3 RECEPTOR;

EID: 77957600847     PISSN: 14724472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (45)

References (32)
  • 5
    • 24644451507 scopus 로고    scopus 로고
    • Targeted deletion of melanocortin receptor subtypes 3 and 4, but not CART, alters nutrient partitioning and compromises behavioral and metabolic responses to leptin
    • Zhang Y, Kilroy GE, Henagan TM, Prpic-Uhing V, Richards WG, Bannon AW, Mynatt RL, Gettys TW: Targeted deletion of melanocortin receptor subtypes 3 and 4, but not CART, alters nutrient partitioning and compromises behavioral and metabolic responses to leptin. FASEB J (2005) 19(11): 1482-1491.
    • (2005) FASEB J , vol.19 , Issue.11 , pp. 1482-1491
    • Zhang, Y.1    Kilroy, G.E.2    Henagan, T.M.3    Prpic-Uhing, V.4    Richards, W.G.5    Bannon, A.W.6    Mynatt, R.L.7    Gettys, T.W.8
  • 6
    • 52449123919 scopus 로고    scopus 로고
    • Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity
    • Farooqi IS, O'Rahilly S: Mutations in ligands and receptors of the leptin-melanocortin pathway that lead to obesity. Nat Clin Pract Endocrinol Metab (2008) 4(10):569-577.
    • (2008) Nat Clin Pract Endocrinol Metab , vol.4 , Issue.10 , pp. 569-577
    • Farooqi, I.S.1    O'Rahilly, S.2
  • 7
    • 77955409173 scopus 로고    scopus 로고
    • The melanocortin-4 receptor: Physiology, pharmacology, and pathophysiology
    • Tao YX: The melanocortin-4 receptor: Physiology, pharmacology, and pathophysiology. Endocr Rev (2010) 31(4):506-543.
    • (2010) Endocr Rev , vol.31 , Issue.4 , pp. 506-543
    • Tao, Y.X.1
  • 9
    • 0030766446 scopus 로고    scopus 로고
    • A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene
    • Zouali H, Hani EH, Philippi A, Vionnet N, Beckmann JS, Demenais F, Froguel P: A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum Mol Genet (1997) 6(9):1401-1408.
    • (1997) Hum Mol Genet , vol.6 , Issue.9 , pp. 1401-1408
    • Zouali, H.1    Hani, E.H.2    Philippi, A.3    Vionnet, N.4    Beckmann, J.S.5    Demenais, F.6    Froguel, P.7
  • 10
    • 0030907295 scopus 로고    scopus 로고
    • New susceptibility locus for NIDDM is localized to human chromosome 20q
    • Ji L, Malecki M, Warram JH, Yang Y, Rich SS, Krolewski AS: New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes (1997) 46(5):876-881.
    • (1997) Diabetes , vol.46 , Issue.5 , pp. 876-881
    • Ji, L.1    Malecki, M.2    Warram, J.H.3    Yang, Y.4    Rich, S.S.5    Krolewski, A.S.6
  • 11
    • 0030897631 scopus 로고    scopus 로고
    • Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in caucasian sib pairs with a history of diabetic nephropathy
    • Bowden DW, Sale M, Howard TD, Qadri A, Spray BJ, Rothschild CB, Akots G, Rich SS, Freedman BI: Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes (1997) 46(5):882-886.
    • (1997) Diabetes , vol.46 , Issue.5 , pp. 882-886
    • Bowden, D.W.1    Sale, M.2    Howard, T.D.3    Qadri, A.4    Spray, B.J.5    Rothschild, C.B.6    Akots, G.7    Rich, S.S.8    Freedman, B.I.9
  • 14
    • 0035380668 scopus 로고    scopus 로고
    • Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in french caucasians
    • Hani EH, Dupont S, Durand E, Dina C, Gallina S, Gantz I, Froguel P: Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians. J Clin Endocrinol Metab (2001) 86(6):2895-2898.
    • (2001) J Clin Endocrinol Metab , vol.86 , Issue.6 , pp. 2895-2898
    • Hani, E.H.1    Dupont, S.2    Durand, E.3    Dina, C.4    Gallina, S.5    Gantz, I.6    Froguel, P.7
  • 16
    • 0036046234 scopus 로고    scopus 로고
    • A +2138InsCAGACC polymorphism of the melanocortin receptor 3 gene is associated in human with fat level and partitioning in interaction with body corpulence
    • Boucher N, Lanouette CM, Larose M, Perusse L, Bouchard C, Chagnon YC: A +2138InsCAGACC polymorphism of the melanocortin receptor 3 gene is associated in human with fat level and partitioning in interaction with body corpulence. Mol Med (2002) 8(3):158-165.
    • (2002) Mol Med , vol.8 , Issue.3 , pp. 158-165
    • Boucher, N.1    Lanouette, C.M.2    Larose, M.3    Perusse, L.4    Bouchard, C.5    Chagnon, Y.C.6
  • 18
    • 24144443764 scopus 로고    scopus 로고
    • Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity
    • Feng N, Young SF, Aguilera G, Puricelli E, Adler-Wailes DC, Sebring NG, Yanovski JA: Co-occurrence of two partially inactivating polymorphisms of MC3R is associated with pediatric-onset obesity. Diabetes (2005) 54(9):2663-2667.
    • (2005) Diabetes , vol.54 , Issue.9 , pp. 2663-2667
    • Feng, N.1    Young, S.F.2    Aguilera, G.3    Puricelli, E.4    Adler-Wailes, D.C.5    Sebring, N.G.6    Yanovski, J.A.7
  • 19
    • 0036963510 scopus 로고    scopus 로고
    • A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity
    • Lee YS, Poh LK, Loke KY: A novel melanocortin 3 receptor gene (MC3R) mutation associated with severe obesity. J Clin Endocrinol Metab (2002) 87(3):1423-1426.
    • (2002) J Clin Endocrinol Metab , vol.87 , Issue.3 , pp. 1423-1426
    • Lee, Y.S.1    Poh, L.K.2    Loke, K.Y.3
  • 20
    • 84991847410 scopus 로고    scopus 로고
    • The role of melanocortin 3 receptor gene in childhood obesity
    • Lee YS, Poh LK, Kek BL, Loke KY: The role of melanocortin 3 receptor gene in childhood obesity. Diabetes (2007) 56(10): 2622-2630.
    • (2007) Diabetes , vol.56 , Issue.10 , pp. 2622-2630
    • Lee, Y.S.1    Poh, L.K.2    Kek, B.L.3    Loke, K.Y.4
  • 22
    • 61849161252 scopus 로고    scopus 로고
    • 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 et al: Association of functionally significant melanocortin-4 but not melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. Hum Mol Genet (2009) 18(6):1140-1147.
    • (2009) Hum Mol Genet , vol.18 , Issue.6 , pp. 1140-1147
    • Calton, M.A.1    Ersoy, B.A.2    Zhang, S.3    Kane, J.P.4    Malloy, M.J.5    Pullinger, C.R.6    Bromberg, Y.7    Pennacchio, L.A.8    Dent, R.9    McPherson, R.10    Ahituv, N.11
  • 24
    • 4043093705 scopus 로고    scopus 로고
    • Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation
    • Tao YX, Segaloff DL: Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation. J Clin Endocrinol Metab (2004) 89(8):3936-3942.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.8 , pp. 3936-3942
    • Tao, Y.X.1    Segaloff, D.L.2
  • 25
    • 3242795783 scopus 로고    scopus 로고
    • Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity
    • Rached M, Buronfosse A, Begeot M, Penhoat A: Inactivation and intracellular retention of the human I183N mutated melanocortin 3 receptor associated with obesity. Biochim Biophys Acta (2004) 1689(3):229-234.
    • (2004) Biochim Biophys Acta , vol.1689 , Issue.3 , pp. 229-234
    • Rached, M.1    Buronfosse, A.2    Begeot, M.3    Penhoat, A.4
  • 26
    • 20544469112 scopus 로고    scopus 로고
    • Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity
    • Tao YX: Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity. Mol Cell Endocrinol (2005) 239(1-2):1-14.
    • (2005) Mol Cell Endocrinol , vol.239 , Issue.1-2 , pp. 1-14
    • Tao, Y.X.1
  • 27
    • 36649035294 scopus 로고    scopus 로고
    • Functional characterization of novel melanocortin-3 receptor mutations identified from obese subjects
    • Tao YX: Functional characterization of novel melanocortin-3 receptor mutations identified from obese subjects. Biochim Biophys Acta (2007) 1772(10):1167-1174.
    • (2007) Biochim Biophys Acta , vol.1772 , Issue.10 , pp. 1167-1174
    • Tao, Y.X.1
  • 28
    • 0141450537 scopus 로고    scopus 로고
    • Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity
    • Tao YX, Segaloff DL: Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity. Endocrinology (2003) 144(10):4544-4551.
    • (2003) Endocrinology , vol.144 , Issue.10 , pp. 4544-4551
    • Tao, Y.X.1    Segaloff, D.L.2
  • 29
    • 77955357085 scopus 로고    scopus 로고
    • Mutations in melanocortin-4 receptor and human obesity
    • Tao YX: Mutations in melanocortin-4 receptor and human obesity. Prog Mol Biol Transl Sci (2009) 88:173-204.
    • (2009) Prog Mol Biol Transl Sci , vol.88 , pp. 173-204
    • Tao, Y.X.1
  • 30
    • 26244440175 scopus 로고    scopus 로고
    • Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects
    • Tao YX, Segaloff DL: Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. J Clin Endocrinol Metab (2005) 90(10):5632-5638.
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.10 , pp. 5632-5638
    • Tao, Y.X.1    Segaloff, D.L.2
  • 31
    • 77954738662 scopus 로고    scopus 로고
    • Genetic studies of common types of obesity: A critique of the current use of phenotypes
    • Muller MJ, Bosy-Westphal A, Krawczak M: Genetic studies of common types of obesity: A critique of the current use of phenotypes. Obes Rev (2010) 11(8):612-618.
    • (2010) Obes Rev , vol.11 , Issue.8 , pp. 612-618
    • Muller, M.J.1    Bosy-Westphal, A.2    Krawczak, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.