-
3
-
-
67649793700
-
The genetic contribution to non-syndromic human obesity
-
Walley AJ, Asher JE, Froguel P. The genetic contribution to non-syndromic human obesity. Nat Rev Genet 2009;10:431-442.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 431-442
-
-
Walley, A.J.1
Asher, J.E.2
Froguel, P.3
-
4
-
-
17844401704
-
Anatomy and regulation of the central melanocortin system
-
DOI 10.1038/nn1455
-
Cone RD. Anatomy and regulation of the central melanocortin system. Nat Neurosci 2005;8:571-578. (Pubitemid 40594196)
-
(2005)
Nature Neuroscience
, vol.8
, Issue.5
, pp. 571-578
-
-
Cone, R.D.1
-
5
-
-
0027227288
-
Molecular cloning, expression, and gene localization of a fourth melanocortin receptor
-
Gantz I, Miwa H, Konda Y et al. Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. J Biol Chem 1993;268:15174- 15179. (Pubitemid 23206671)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.20
, pp. 15174-15179
-
-
Gantz, I.1
Miwa, H.2
Konda, Y.3
Shimoto, Y.4
Tashiro, T.5
Watson, S.J.6
DelValle, J.7
Yamada, T.8
-
6
-
-
0030889192
-
Targeted disruption of the melanocortin-4 receptor results in obesity in mice
-
Huszar D, Lynch CA, Fairchild-Huntress V et al. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 1997;88:131-141. (Pubitemid 27180337)
-
(1997)
Cell
, vol.88
, Issue.1
, pp. 131-141
-
-
Huszar, D.1
Lynch, C.A.2
Fairchild-Huntress, V.3
Dunmore, J.H.4
Fang, Q.5
Berkemeier, L.R.6
Gu, W.7
Kesterson, R.A.8
Boston, B.A.9
Cone, R.D.10
Smith, F.J.11
Campfield, L.A.12
Burn, P.13
Frank, L.14
-
7
-
-
0031662163
-
A frameshift mutation in human MC4R is associated with a dominant form of obesity [2]
-
DOI 10.1038/2407
-
Vaisse C, Clement K, Guy-Grand B, Froguel P. A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat Genet 1998;20:113-114. (Pubitemid 28455439)
-
(1998)
Nature Genetics
, vol.20
, Issue.2
, pp. 113-114
-
-
Vaisse, C.1
Clement, K.2
Guy-Grand, B.3
Froguel, P.4
-
8
-
-
0031668219
-
A frameshift mutation in MC4R associated with dominantly inherited human obesity [1]
-
DOI 10.1038/2404
-
Yeo GS, Farooqi IS, Aminian S et al. A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 1998;20:111-112. (Pubitemid 28455438)
-
(1998)
Nature Genetics
, vol.20
, Issue.2
, pp. 111-112
-
-
Yeo, G.S.H.1
Farooqi, I.S.2
Aminian, S.3
Halsall, D.J.4
Stanhope, R.G.5
O'Rahilly, S.6
-
9
-
-
0037456768
-
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene
-
DOI 10.1056/NEJMoa022050
-
Farooqi IS, Keogh JM, Yeo GS et al. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 2003;348:1085-1095. (Pubitemid 36337319)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.12
, pp. 1085-1095
-
-
Farooqi, I.S.1
Keogh, J.M.2
Yeo, G.S.H.3
Lank, E.J.4
Cheetham, T.5
O'Rahilly, S.6
-
10
-
-
34248997444
-
Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity
-
7
-
Dubern B, Bisbis S, Talbaoui H et al. Homozygous null mutation of the melanocortin-4 receptor and severe early-onset obesity. J Pediatr 2007;150:613-7, 617.e1.
-
(2007)
J Pediatr
, vol.150
, Issue.613
-
-
Dubern, B.1
Bisbis, S.2
Talbaoui, H.3
-
11
-
-
0033927916
-
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
-
Vaisse C, Clement K, Durand E et al. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 2000;106:253-262. (Pubitemid 30483129)
-
(2000)
Journal of Clinical Investigation
, vol.106
, Issue.2
, pp. 253-262
-
-
Vaisse, C.1
Clement, K.2
Durand, E.3
Hercberg, S.4
Guy-Grand, B.5
Froguel, P.6
-
12
-
-
52749092130
-
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees
-
Stutzmann F, Tan K, Vatin V et al. Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. Diabetes 2008;57:2511-2518.
-
(2008)
Diabetes
, vol.57
, pp. 2511-2518
-
-
Stutzmann, F.1
Tan, K.2
Vatin, V.3
-
13
-
-
12144289073
-
Melanocortin-4 Receptor Gene Variant I103 Is Negatively Associated with Obesity
-
DOI 10.1086/382490
-
Geller F, Reichwald K, Dempfle A et al. Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. Am J Hum Genet 2004;74:572-581. (Pubitemid 38325928)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.3
, pp. 572-581
-
-
Geller, F.1
Reichwald, K.2
Dempfle, A.3
Illig, T.4
Vollmert, C.5
Herpertz, S.6
Siffert, W.7
Platzer, M.8
Hess, C.9
Gudermann, T.10
Biebermann, H.11
Wichmann, H.-E.12
Schafer, H.13
Hinney, A.14
Hebebrand, J.15
-
14
-
-
33745036725
-
Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist
-
DOI 10.1021/bi0600300
-
Xiang Z, Litherland SA, Sorensen NB et al. Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist. Biochemistry 2006;45:7277-7288. (Pubitemid 43877414)
-
(2006)
Biochemistry
, vol.45
, Issue.23
, 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
-
15
-
-
34547839796
-
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: The two facets of a Janus obesity gene
-
DOI 10.1093/hmg/ddm132
-
Stutzmann F, Vatin V, Cauchi S et al. Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene. Hum Mol Genet 2007;16:1837-1844. (Pubitemid 47244532)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.15
, pp. 1837-1844
-
-
Stutzmann, F.1
Vatin, V.2
Cauchi, S.3
Morandi, A.4
Jouret, B.5
Landt, O.6
Tounian, P.7
Levy-Marchal, C.8
Buzzetti, R.9
Pinelli, L.10
Balkau, B.11
Horber, F.12
Bougneres, P.13
Froguel, P.14
Meyre, D.15
-
16
-
-
77955409173
-
The melanocortin-4 receptor: Physiology pharmacology and pathophysiology
-
Tao YX. The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology. Endocr Rev 2010;31:506-543.
-
(2010)
Endocr Rev
, vol.31
, pp. 506-543
-
-
Tao, Y.X.1
-
17
-
-
33646423288
-
Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany
-
Hinney A, Bettecken T, Tarnow P et al. Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany. J Clin Endocrinol Metab 2006;91:1761-1769.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1761-1769
-
-
Hinney, A.1
Bettecken, T.2
Tarnow, P.3
-
18
-
-
4644240052
-
Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians
-
DOI 10.2337/diabetes.53.10.2696
-
Ma L, Tataranni PA, Bogardus C, Baier LJ. Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. Diabetes 2004;53:2696-2699. (Pubitemid 39299281)
-
(2004)
Diabetes
, vol.53
, Issue.10
, pp. 2696-2699
-
-
Ma, L.1
Tataranni, P.A.2
Bogardus, C.3
Baier, L.J.4
-
19
-
-
33847186636
-
Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE
-
Alharbi KK, Spanakis E, Tan K et al. Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE. Hum Mutat 2007;28:294-302.
-
(2007)
Hum Mutat
, vol.28
, pp. 294-302
-
-
Alharbi, K.K.1
Spanakis, E.2
Tan, K.3
-
20
-
-
23044453212
-
Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy
-
DOI 10.1373/clinchem.2005.047886
-
Buono P, Pasanisi F, Nardelli C et al. Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy. Clin Chem 2005;51:1358-1364. (Pubitemid 41060867)
-
(2005)
Clinical Chemistry
, vol.51
, Issue.8
, pp. 1358-1364
-
-
Buono, P.1
Pasanisi, F.2
Nardelli, C.3
Ieno, L.4
Capone, S.5
Liguori, R.6
Finelli, C.7
Oriani, G.8
Contaldo, F.9
Sacchetti, L.10
-
21
-
-
0037350649
-
A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population
-
DOI 10.1038/sj.ijo.0802244
-
Marti A, Corbalán MS, Forga L et al. A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population. Int J Obes Relat Metab Disord 2003;27:385-388. (Pubitemid 36384877)
-
(2003)
International Journal of Obesity
, vol.27
, Issue.3
, pp. 385-388
-
-
Marti, A.1
Corbalan, M.S.2
Forga, L.3
Martinez, J.A.4
Hinney, A.5
Hebebrand, J.6
-
22
-
-
18944394486
-
Epidemiology of overweight and obesity in a Greek adult population: The ATTICA Study
-
Panagiotakos DB, Pitsavos C, Chrysohoou C et al. Epidemiology of overweight and obesity in a Greek adult population: the ATTICA Study. Obes Res 2004;12:1914-1920.
-
(2004)
Obes Res
, vol.12
, pp. 1914-1920
-
-
Panagiotakos, D.B.1
Pitsavos, C.2
Chrysohoou, C.3
-
23
-
-
23744458086
-
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
-
DOI 10.1101/gr.3715005
-
Siepel A, Bejerano G, Pedersen JS et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 2005;15:1034-1050. (Pubitemid 41126859)
-
(2005)
Genome Research
, vol.15
, Issue.8
, pp. 1034-1050
-
-
Siepel, A.1
Bejerano, G.2
Pedersen, J.S.3
Hinrichs, A.S.4
Hou, M.5
Rosenbloom, K.6
Clawson, H.7
Spieth, J.8
Hillier, L.W.9
Richards, S.10
Weinstock, G.M.11
Wilson, R.K.12
Gibbs, R.A.13
Kent, W.J.14
Miller, W.15
Haussler, D.16
-
24
-
-
33646404622
-
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 et al. 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. J Clin Endocrinol Metab 2006;91:1811-1818.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1811-1818
-
-
Lubrano-Berthelier, C.1
Dubern, B.2
Lacorte, J.M.3
-
25
-
-
0037927578
-
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity
-
DOI 10.1074/jbc.M211326200
-
Nijenhuis WA, Garner KM, van Rozen RJ, Adan RA. Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. J Biol Chem 2003;278:22939-22945. (Pubitemid 36830358)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.25
, pp. 22939-22945
-
-
Nijenhuis, W.A.J.1
Garner, K.M.2
Van Rozen, R.J.3
Adan, R.A.H.4
-
26
-
-
0037439274
-
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations
-
DOI 10.1093/hmg/ddg016
-
Lubrano-Berthelier C, Durand E, Dubern B et al. Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. Hum Mol Genet 2003;12:145-153. (Pubitemid 36124450)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.2
, pp. 145-153
-
-
Lubrano-Berthelier, C.1
Durand, E.2
Dubern, B.3
Shapiro, A.4
Dazin, P.5
Weill, J.6
Ferron, C.7
Froguel, P.8
Vaisse, C.9
-
27
-
-
58149471232
-
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor
-
Tan K, Pogozheva ID, Yeo GS et al. Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. Endocrinology 2009;150:114-125.
-
(2009)
Endocrinology
, vol.150
, pp. 114-125
-
-
Tan, K.1
Pogozheva, I.D.2
Yeo, G.S.3
-
28
-
-
1442327719
-
Identification and Characterization of Melanocortin-4 Receptor Gene Mutations in Morbidly Obese Finnish Children and Adults
-
DOI 10.1210/jc.2003-031182
-
Valli-Jaakola K, Lipsanen-Nyman M, Oksanen L et al. Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. J Clin Endocrinol Metab 2004;89:940-945. (Pubitemid 38269915)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.2
, pp. 940-945
-
-
Valli-Jaakola, K.1
Lipsanen-Nyman, M.2
Oksanen, L.3
Hollenberg, A.N.4
Kontula, K.5
Bjorbaek, C.6
Schalin-Jantti, C.7
-
29
-
-
64049106155
-
Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity
-
Santoro N, Cirillo G, Xiang Z et al. Prevalence of pathogenetic MC4R mutations in Italian children with early onset obesity, tall stature and familial history of obesity. BMC Med Genet 2009;10:25.
-
(2009)
BMC Med Genet
, vol.10
, pp. 25
-
-
Santoro, N.1
Cirillo, G.2
Xiang, Z.3
-
30
-
-
61849161252
-
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 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;18:1140-1147.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1140-1147
-
-
Calton, M.A.1
Ersoy, B.A.2
Zhang, S.3
-
31
-
-
76749144532
-
A 3-year intervention with a Mediterranean diet modified the association between the rs9939609 gene variant in FTO and body weight changes
-
Razquin C, Martinez JA, Martinez-Gonzalez MA et al. A 3-year intervention with a Mediterranean diet modified the association between the rs9939609 gene variant in FTO and body weight changes. Int J Obes (Lond) 2010;34:266-272.
-
(2010)
Int J Obes (Lond)
, vol.34
, pp. 266-272
-
-
Razquin, C.1
Martinez, J.A.2
Martinez-Gonzalez, M.A.3
-
32
-
-
79951996818
-
APOA5 gene variation interacts with dietary fat intake to modulate obesity and circulating triglycerides in a Mediterranean population
-
Sánchez-Moreno C, Ordovás JM, Smith CE et al. APOA5 gene variation interacts with dietary fat intake to modulate obesity and circulating triglycerides in a Mediterranean population. J Nutr 2011;141:380-385.
-
(2011)
J Nutr
, vol.141
, pp. 380-385
-
-
Sánchez-Moreno, C.1
Ordovás, J.M.2
Smith, C.E.3
-
33
-
-
84856278653
-
Common variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 show evidence of association with adult obesity in the Greek population
-
Rouskas K, Kouvatsi A, Paletas K et al. Common variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 show evidence of association with adult obesity in the Greek population. Obesity (Silver Spring) 2012;20:389-395.
-
(2012)
Obesity (Silver Spring)
, vol.20
, pp. 389-395
-
-
Rouskas, K.1
Kouvatsi, A.2
Paletas, K.3
|