-
1
-
-
0033118334
-
Molecular tinkering of G protein-coupled receptors: An evolutionary success
-
Bockaert J, Pin JP 1999 Molecular tinkering of G protein-coupled receptors: an evolutionary success. EMBO J 18:1723-1729
-
(1999)
EMBO J
, vol.18
, pp. 1723-1729
-
-
Bockaert, J.1
Pin, J.P.2
-
2
-
-
0029963793
-
Defects in G protein-coupled signal transduction in human disease
-
Spiegel AM 1996 Defects in G protein-coupled signal transduction in human disease. Annu Rev Physiol 58:143-170
-
(1996)
Annu Rev Physiol
, vol.58
, pp. 143-170
-
-
Spiegel, A.M.1
-
3
-
-
0029993990
-
Activating mutations of rhodopsin and other G protein-coupled receptors
-
Rao VR, Oprian DD 1996 Activating mutations of rhodopsin and other G protein-coupled receptors. Annu Rev Biophys Biomol Struct 25:287-314
-
(1996)
Annu Rev Biophys Biomol Struct
, vol.25
, pp. 287-314
-
-
Rao, V.R.1
Oprian, D.D.2
-
4
-
-
0036783213
-
Lessons from constitutively active mutants of G protein-coupled receptors
-
Parnot C, Miserey-Lenkei S, Bardin S, Corvol P, Clauser E 2002 Lessons from constitutively active mutants of G protein-coupled receptors. Trends Endocrinol Metab 13:336-343
-
(2002)
Trends Endocrinol Metab
, vol.13
, pp. 336-343
-
-
Parnot, C.1
Miserey-Lenkei, S.2
Bardin, S.3
Corvol, P.4
Clauser, E.5
-
5
-
-
0036908575
-
Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity
-
Swords FM, Baig A, Malchoff DM, Malchoff CD, Thorner MO, King PJ, Hunyady L, Clark AJ 2002 Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity. Mol Endocrinol 16:2746-2753
-
(2002)
Mol Endocrinol
, vol.16
, pp. 2746-2753
-
-
Swords, F.M.1
Baig, A.2
Malchoff, D.M.3
Malchoff, C.D.4
Thorner, M.O.5
King, P.J.6
Hunyady, L.7
Clark, A.J.8
-
6
-
-
0028866929
-
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus
-
Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M 1995 Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J Clin Invest 96:2043-2050
-
(1995)
J Clin Invest
, vol.96
, pp. 2043-2050
-
-
Tsukaguchi, H.1
Matsubara, H.2
Taketani, S.3
Mori, Y.4
Seido, T.5
Inada, M.6
-
7
-
-
0026058548
-
Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
-
Sung CH, Schneider BG, Agarwal N, Papermaster DS, Nathans J 1991 Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA 88:8840-8844
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 8840-8844
-
-
Sung, C.H.1
Schneider, B.G.2
Agarwal, N.3
Papermaster, D.S.4
Nathans, J.5
-
8
-
-
0027452148
-
Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
-
Sung CH, Davenport CM, Nathans J 1993 Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. J Biol Chem 268:26645-26649
-
(1993)
J Biol Chem
, vol.268
, pp. 26645-26649
-
-
Sung, C.H.1
Davenport, C.M.2
Nathans, J.3
-
9
-
-
0033361906
-
Naturally occurring mutations of the luteinizing-hormone receptor: Lessons learned about reproductive physiology and G protein-coupled receptors
-
Latronico A, Segaloff D 1999 Naturally occurring mutations of the luteinizing-hormone receptor: Lessons learned about reproductive physiology and G protein-coupled receptors. Am J Hum Genet 65:949-958
-
(1999)
Am J Hum Genet
, vol.65
, pp. 949-958
-
-
Latronico, A.1
Segaloff, D.2
-
10
-
-
0033303550
-
The mutant growth hormone-releasing hormone (GHRH) receptor of the little mouse does not bind GHRH
-
Gaylinn BD, Dealmeida VI, Lyons Jr CE, Wu KC, Mayo KE, Thorner MO 1999 The mutant growth hormone-releasing hormone (GHRH) receptor of the little mouse does not bind GHRH. Endocrinology 140:5066-5074
-
(1999)
Endocrinology
, vol.140
, pp. 5066-5074
-
-
Gaylinn, B.D.1
Dealmeida, V.I.2
Lyons C.E., Jr.3
Wu, K.C.4
Mayo, K.E.5
Thorner, M.O.6
-
11
-
-
0027430336
-
Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase
-
Rosenthal W, Antaramian A, Gilbert S, Birnbaumer M 1993 Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase. J Biol Chem 268:13030-13033
-
(1993)
J Biol Chem
, vol.268
, pp. 13030-13033
-
-
Rosenthal, W.1
Antaramian, A.2
Gilbert, S.3
Birnbaumer, M.4
-
12
-
-
0032230361
-
A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expresssion and impaired effector activation by the cell surface receptor
-
Latronico AC, Chai Y, Arnhold IJP, Liu X, Mendonca BB, Segaloff DL 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expresssion and impaired effector activation by the cell surface receptor. Mol Endocrinol 12:442-450
-
(1998)
Mol Endocrinol
, vol.12
, pp. 442-450
-
-
Latronico, A.C.1
Chai, Y.2
Arnhold, I.J.P.3
Liu, X.4
Mendonca, B.B.5
Segaloff, D.L.6
-
13
-
-
0028226034
-
An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system
-
Birnbaumer M, Gilbert S, Rosenthal W 1994 An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system. Mol Endocrinol 8:886-894
-
(1994)
Mol Endocrinol
, vol.8
, pp. 886-894
-
-
Birnbaumer, M.1
Gilbert, S.2
Rosenthal, W.3
-
14
-
-
0023959725
-
Proopiomelanocortin processing in the pituitary, central nervous system, and peripheral tissues
-
Smith AI, Funder JW 1988 Proopiomelanocortin processing in the pituitary, central nervous system, and peripheral tissues. Endocr Rev 9:159-179
-
(1988)
Endocr Rev
, vol.9
, pp. 159-179
-
-
Smith, A.I.1
Funder, J.W.2
-
15
-
-
0026731363
-
Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA
-
Chhajlani V, Wikberg JE 1992 Molecular cloning and expression of the human melanocyte stimulating hormone receptor cDNA. FEBS Lett 309:417-420
-
(1992)
FEBS Lett
, vol.309
, pp. 417-420
-
-
Chhajlani, V.1
Wikberg, J.E.2
-
16
-
-
0026800892
-
The cloning of a family of genes that encode the melanocortin receptors
-
Mountjoy KG, Robbins LS, Mortrud MT, Cone RD 1992 The cloning of a family of genes that encode the melanocortin receptors. Science 257:1248-1251
-
(1992)
Science
, vol.257
, pp. 1248-1251
-
-
Mountjoy, K.G.1
Robbins, L.S.2
Mortrud, M.T.3
Cone, R.D.4
-
17
-
-
0027456619
-
Molecular cloning of a novel melanocortin receptor
-
Gantz I, Konda Y, Tashiro T, Shimoto Y, Miwa H, Munzert G, Watson SJ, DelValle J, Yamada T 1993 Molecular cloning of a novel melanocortin receptor. J Biol Chem 268:8246-8250
-
(1993)
J Biol Chem
, vol.268
, pp. 8246-8250
-
-
Gantz, I.1
Konda, Y.2
Tashiro, T.3
Shimoto, Y.4
Miwa, H.5
Munzert, G.6
Watson, S.J.7
DelValle, J.8
Yamada, T.9
-
18
-
-
0027436690
-
Identification of a receptor for gamma melanotropin and other proopiomelanocortin peptides in the hypothalamus and limbic system
-
Roselli-Rehfuss L, Mountjoy KG, Robbins LS, Mortrud MT, Low MJ, Tatro JB, Entwistle ML, Simerly RB, Cone RD 1993 Identification of a receptor for gamma melanotropin and other proopiomelanocortin peptides in the hypothalamus and limbic system. Proc Natl Acad Sci USA 90:8856-8860
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 8856-8860
-
-
Roselli-Rehfuss, L.1
Mountjoy, K.G.2
Robbins, L.S.3
Mortrud, M.T.4
Low, M.J.5
Tatro, J.B.6
Entwistle, M.L.7
Simerly, R.B.8
Cone, R.D.9
-
19
-
-
0027227288
-
Molecular cloning, expression, and gene localization of a fourth melanocortin receptor
-
Gantz I, Miwa H, Konda Y, Shimoto Y, Tashiro T, Watson SJ, DelValle J, Yamada T 1993 Molecular cloning, expression, and gene localization of a fourth melanocortin receptor. J Biol Chem 268:15174-15179
-
(1993)
J Biol Chem
, vol.268
, 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
-
20
-
-
0028134706
-
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
-
22
-
-
0028198975
-
Molecular cloning, expression, and characterization of a fifth melanocortin receptor
-
Gantz I, Shimoto Y, Konda Y, Miwa H, Dickinson CJ, Yamada T 1994 Molecular cloning, expression, and characterization of a fifth melanocortin receptor. Biochem Biophys Res Commun 200:1214-1220
-
(1994)
Biochem Biophys Res Commun
, vol.200
, pp. 1214-1220
-
-
Gantz, I.1
Shimoto, Y.2
Konda, Y.3
Miwa, H.4
Dickinson, C.J.5
Yamada, T.6
-
23
-
-
0031442053
-
Exocrine gland dysfunction in MC5-R-deficient mice: Evidence for coordinated regulation of exocrine gland function by melanocortin peptides
-
Chen W, Kelly MA, Opitz-Araya X, Thomas RE, Low MJ, Cone RD 1997 Exocrine gland dysfunction in MC5-R-deficient mice: evidence for coordinated regulation of exocrine gland function by melanocortin peptides. Cell 91:789-798
-
(1997)
Cell
, vol.91
, pp. 789-798
-
-
Chen, W.1
Kelly, M.A.2
Opitz-Araya, X.3
Thomas, R.E.4
Low, M.J.5
Cone, R.D.6
-
24
-
-
0032863468
-
Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin
-
Yaswen L, Diehl N, Brennan MB, Hochgeschwender U 1999 Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin. Nat Med 5:1066-1070
-
(1999)
Nat Med
, vol.5
, pp. 1066-1070
-
-
Yaswen, L.1
Diehl, N.2
Brennan, M.B.3
Hochgeschwender, U.4
-
25
-
-
0030889192
-
Targeted disruption of the melanocortin-4 receptor results in obesity in mice
-
Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, Fang Q, Berkemeier LR, Gu W, Kesterson RA, Boston BA, Cone RD, Smith FJ, Campfield LA, Burn P, Lee F 1997 Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 88:131-141
-
(1997)
Cell
, vol.88
, 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
Lee, F.14
-
26
-
-
0031280002
-
Overexpression of Agrt leads to obesity in transgenic mice
-
Graham M, Shutter JR, Sarmiento U, Sarosi I, Stark KL 1997 Overexpression of Agrt leads to obesity in transgenic mice. Nat Genet 17:273-274
-
(1997)
Nat Genet
, vol.17
, pp. 273-274
-
-
Graham, M.1
Shutter, J.R.2
Sarmiento, U.3
Sarosi, I.4
Stark, K.L.5
-
27
-
-
0030764741
-
Antagonism of central metanocortin receptors in vitro and in vivo by agouti-retated protein
-
Ollmann MM, Wilson BD, Yang YK, Kerns JA, Chen Y, Gantz I, Barsh GS 1997 Antagonism of central metanocortin receptors in vitro and in vivo by agouti-retated protein. Science 278:135-138
-
(1997)
Science
, vol.278
, pp. 135-138
-
-
Ollmann, M.M.1
Wilson, B.D.2
Yang, Y.K.3
Kerns, J.A.4
Chen, Y.5
Gantz, I.6
Barsh, G.S.7
-
28
-
-
0028112970
-
Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor
-
Lu D, Willard D, Patel IR, Kadwell S, Overton L, Kost T, Luther M, Chen W, Woychik RP, Wilkison WO, Wilkinson WO, Cone RD 1994 Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor. Nature 371:799-802
-
(1994)
Nature
, vol.371
, pp. 799-802
-
-
Lu, D.1
Willard, D.2
Patel, I.R.3
Kadwell, S.4
Overton, L.5
Kost, T.6
Luther, M.7
Chen, W.8
Woychik, R.P.9
Wilkison, W.O.10
Wilkinson, W.O.11
Cone, R.D.12
-
29
-
-
0030614331
-
Role of melanocortinergic neurons in feeding and the agouti obesity syndrome
-
Fan W, Boston BA, Kesterson RA, Hruby VJ, Cone RD 1997 Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature 385:165-168
-
(1997)
Nature
, vol.385
, pp. 165-168
-
-
Fan, W.1
Boston, B.A.2
Kesterson, R.A.3
Hruby, V.J.4
Cone, R.D.5
-
30
-
-
0031914232
-
Central infusion of melanocortin agonist MTII in rats: Assessment of c-Fos expression and taste aversion
-
Thiele TE, van Dijk G, Yagaloff KA, Fisher SL, Schwartz M, Burn P, Seeley RJ 1998 Central infusion of melanocortin agonist MTII in rats: assessment of c-Fos expression and taste aversion. Am J Physiol 274:R248-R254
-
(1998)
Am J Physiol
, vol.274
-
-
Thiele, T.E.1
Van Dijk, G.2
Yagaloff, K.A.3
Fisher, S.L.4
Schwartz, M.5
Burn, P.6
Seeley, R.J.7
-
31
-
-
15144357684
-
A C-terminal fragment of Agouti-related protein increases feeding and antagonizes the effect of α-melanocyte stimulating hormone in vivo
-
Rossi M, Kim MS, Morgan DG, Small CJ, Edwards CM, Sunter D, Abusnana S, Goldstone AP, Russell SH, Stanley SA, Smith DM, Yagaloff K, Ghatei MA, Bloom SR 1998 A C-terminal fragment of Agouti-related protein increases feeding and antagonizes the effect of α-melanocyte stimulating hormone in vivo. Endocrinology 139:4428-4431
-
(1998)
Endocrinology
, vol.139
, pp. 4428-4431
-
-
Rossi, M.1
Kim, M.S.2
Morgan, D.G.3
Small, C.J.4
Edwards, C.M.5
Sunter, D.6
Abusnana, S.7
Goldstone, A.P.8
Russell, S.H.9
Stanley, S.A.10
Smith, D.M.11
Yagaloff, K.12
Ghatei, M.A.13
Bloom, S.R.14
-
32
-
-
0031838353
-
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
-
Krude H, Biebermann H, Luck W, Horn R, Brabant G, Gruters A 1998 Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 19:155-157
-
(1998)
Nat Genet
, vol.19
, pp. 155-157
-
-
Krude, H.1
Biebermann, H.2
Luck, W.3
Horn, R.4
Brabant, G.5
Gruters, A.6
-
33
-
-
0031668219
-
A frameshift mutation in MC4R associated with dominantly inherited human obesity
-
Yeo GS, Farooqi IS, Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S 1998 A frameshift mutation in MC4R associated with dominantly inherited human obesity. Nat Genet 20:111-112
-
(1998)
Nat Genet
, vol.20
, pp. 111-112
-
-
Yeo, G.S.1
Farooqi, I.S.2
Aminian, S.3
Halsall, D.J.4
Stanhope, R.G.5
O'Rahilly, S.6
-
34
-
-
0031662163
-
A frameshift mutation in human MC4R is associated with a dominant form of obesity
-
Vaisse C, Clement 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
Clement, K.2
Guy-Grand, B.3
Froguel, P.4
-
35
-
-
0034913118
-
A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity
-
Mergen M, Mergen H, Ozata M, Oner R, Oner C 2001 A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. J Clin Endocrinol Metab 86:3448
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3448
-
-
Mergen, M.1
Mergen, H.2
Ozata, M.3
Oner, R.4
Oner, C.5
-
36
-
-
0033010326
-
Identification and functional analysis of novel human melanocortin-4 receptor variants
-
Gu W, Tu Z, Kleyn PW, Kissebah A, Duprat L, Lee J, Chin W, Maruti S, Deng N, Fisher SL, Franco LS, Burn P, Yagaloff KA, Nathan J, Heymsfield S, Albu J, Pi-Sunyer FX, Allison DB 1999 Identification and functional analysis of novel human melanocortin-4 receptor variants. Diabetes 48:635-639
-
(1999)
Diabetes
, vol.48
, pp. 635-639
-
-
Gu, W.1
Tu, Z.2
Kleyn, P.W.3
Kissebah, A.4
Duprat, L.5
Lee, J.6
Chin, W.7
Maruti, S.8
Deng, N.9
Fisher, S.L.10
Franco, L.S.11
Burn, P.12
Yagaloff, K.A.13
Nathan, J.14
Heymsfield, S.15
Albu, J.16
Pi-Sunyer, F.X.17
Allison, D.B.18
-
37
-
-
0033362016
-
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 65:1501-1457
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1501-1457
-
-
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
-
38
-
-
0033343736
-
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, Heibult O, Becker I, Ziegler A, Gerber G, Sina M, Gorg T, Mayer H, Siegfried W, Fichter M, Remschmidt H, Hebebrand J 1999 Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. J Clin Endocrinol Metab 84:1483-1486
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 1483-1486
-
-
Hinney, A.1
Schmidt, A.2
Nottebom, K.3
Heibult, O.4
Becker, I.5
Ziegler, A.6
Gerber, G.7
Sina, M.8
Gorg, T.9
Mayer, H.10
Siegfried, W.11
Fichter, M.12
Remschmidt, H.13
Hebebrand, J.14
-
39
-
-
0343953074
-
Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency
-
Farooqi IS, Yeo GS, Keogh JM, Aminian S, Jebb SA, Butler G, Cheetham T, O'Rahilly S 2000 Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J Clin Invest 106:271-279
-
(2000)
J Clin Invest
, vol.106
, pp. 271-279
-
-
Farooqi, I.S.1
Yeo, G.S.2
Keogh, J.M.3
Aminian, S.4
Jebb, S.A.5
Butler, G.6
Cheetham, T.7
O'Rahilly, S.8
-
40
-
-
0033927916
-
Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
-
Vaisse C, Clement K, Durand E, Hercberg S, Guy-Grand B, Froguel P 2000 Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 106:253-262
-
(2000)
J Clin Invest
, vol.106
, pp. 253-262
-
-
Vaisse, C.1
Clement, K.2
Durand, E.3
Hercberg, S.4
Guy-Grand, B.5
Froguel, P.6
-
41
-
-
0034905674
-
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and α-melanocyte-stimulating hormone genes in severely obese children
-
Dubern B, Clement 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
Clement, K.2
Pelloux, V.3
Froguel, P.4
Girardet, J.P.5
Guy-Grand, B.6
Tounian, P.7
-
42
-
-
0036094522
-
A novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity
-
Kobayashi H, Ogawa Y, Shintani M, Ebihara K, Shimodahira M, Iwakura T, Hino M, Ishihara T, Ikekubo K, Kurahachi H, Nakao K 2002 A novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity. Diabetes 51:243-246
-
(2002)
Diabetes
, vol.51
, pp. 243-246
-
-
Kobayashi, H.1
Ogawa, Y.2
Shintani, M.3
Ebihara, K.4
Shimodahira, M.5
Iwakura, T.6
Hino, M.7
Ishihara, T.8
Ikekubo, K.9
Kurahachi, H.10
Nakao, K.11
-
43
-
-
0036257961
-
Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity
-
Miraglia Del Giudice E, Cirillo G, Nigro V, Santoro N, D'Urso L, Raimondo P, Cozzolino D, Scafato D, Perrone L 2002 Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity. Int J Obes Relat Metab Disord 26:647-651
-
(2002)
Int J Obes Relat Metab Disord
, vol.26
, pp. 647-651
-
-
Miraglia Del Giudice, E.1
Cirillo, G.2
Nigro, V.3
Santoro, N.4
D'Urso, L.5
Raimondo, P.6
Cozzolino, D.7
Scafato, D.8
Perrone, L.9
-
44
-
-
18644363563
-
Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: The Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort
-
Jacobson P, Ukkola O, Rankinen T, Snyder EE, Leon AS, Rao DC, Skinner JS, Wilmore JH, Lonn L, Cowan Jr GS, Sjostrom L, Bouchard C 2002 Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort. J Clin Endocrinol Metab 87:4442-4446
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4442-4446
-
-
Jacobson, P.1
Ukkola, O.2
Rankinen, T.3
Snyder, E.E.4
Leon, A.S.5
Rao, D.C.6
Skinner, J.S.7
Wilmore, J.H.8
Lonn, L.9
Cowan G.S., Jr.10
Sjostrom, L.11
Bouchard, C.12
-
45
-
-
0037350649
-
A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population
-
Marti A, Corbalan MS, Forga L, Martinez JA, Hinney A, Hebebrand J 2003 A novel nonsense mutation in the melanocortin-4 receptor associated with obesity in a Spanish population. Int J Obes Relat Metab Disord 27:385-388
-
(2003)
Int J Obes Relat Metab Disord
, vol.27
, pp. 385-388
-
-
Marti, A.1
Corbalan, M.S.2
Forga, L.3
Martinez, J.A.4
Hinney, A.5
Hebebrand, J.6
-
46
-
-
0037456768
-
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene
-
Farooqi IS, Keogh JM, Yeo GS, Lank EJ, Cheetham T, O'Rahilly S 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 348:1085-1095
-
(2003)
N Engl J Med
, vol.348
, pp. 1085-1095
-
-
Farooqi, I.S.1
Keogh, J.M.2
Yeo, G.S.3
Lank, E.J.4
Cheetham, T.5
O'Rahilly, S.6
-
47
-
-
0037341511
-
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms
-
Yeo GS, Lank EJ, Farooqi IS, Keogh J, Challis BG, O'Rahilly S 2003 Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. Hum Mol Genet 12:561-574
-
(2003)
Hum Mol Genet
, vol.12
, pp. 561-574
-
-
Yeo, G.S.1
Lank, E.J.2
Farooqi, I.S.3
Keogh, J.4
Challis, B.G.5
O'Rahilly, S.6
-
48
-
-
0141729796
-
-
Program of the 84th Annual Meeting of The Endocrine Society, San Francisco CA. Abstract P3-419
-
Lee Y-S, Poh LK-S, Loke K-Y, A novel melanocortin 4 receptor gene (MC4R) mutation associated with severe obesity. Program of the 84th Annual Meeting of The Endocrine Society, San Francisco, CA, 2002, p 589 (Abstract P3-419)
-
(2002)
A Novel Melanocortin 4 Receptor Gene (MC4R) Mutation Associated with Severe Obesity
, pp. 589
-
-
Lee, Y.-S.1
Poh, L.K.-S.2
Loke, K.-Y.3
-
49
-
-
0023392945
-
High-efficiency transformation of mammalian cells by plasmid DNA
-
Chen C, Okayama H 1987 High-efficiency transformation of mammalian cells by plasmid DNA. Mol Cell Biol 7:2745-2752
-
(1987)
Mol Cell Biol
, vol.7
, pp. 2745-2752
-
-
Chen, C.1
Okayama, H.2
-
50
-
-
0000448866
-
4-Norleucine, 7-D-phenylalanine-α-melanocyte-stimulating hormone: A highly potent α-melanotropin with ultralong biological activity
-
Sawyer TK, Sanfilippo PJ, Hruby VJ, Engel MH, Heward CB, Burnett JB, Hadley ME 1980 4-Norleucine, 7-D-phenylalanine-α-melanocyte-stimulating hormone: a highly potent α-melanotropin with ultralong biological activity. Proc Natl Acad Sci USA 77:5754-5748
-
(1980)
Proc Natl Acad Sci USA
, vol.77
, pp. 5754-5748
-
-
Sawyer, T.K.1
Sanfilippo, P.J.2
Hruby, V.J.3
Engel, M.H.4
Heward, C.B.5
Burnett, J.B.6
Hadley, M.E.7
-
51
-
-
0033544936
-
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
-
52
-
-
0035793059
-
Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus
-
Barak LS, Oakley RH, Laporte SA, Caron MG 2001 Constitutive arrestin-mediated desensitization of a human vasopressin receptor mutant associated with nephrogenic diabetes insipidus. Proc Natl Acad Sci USA 98:93-98
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 93-98
-
-
Barak, L.S.1
Oakley, R.H.2
Laporte, S.A.3
Caron, M.G.4
-
53
-
-
0347137958
-
Melanocortin receptor-mediated mobilization of intracellular free calcium in HEK293 cells
-
Mountjoy KG, Kong PL, Taylor JA, Willard DH, Wilkison WO 2001 Melanocortin receptor-mediated mobilization of intracellular free calcium in HEK293 cells. Physiol Genomics 5:11-19
-
(2001)
Physiol Genomics
, vol.5
, pp. 11-19
-
-
Mountjoy, K.G.1
Kong, P.L.2
Taylor, J.A.3
Willard, D.H.4
Wilkison, W.O.5
-
54
-
-
0037057235
-
Synergistic polymorphisms of β1- and α2C-adrenergic receptors and the risk of congestive heart failure
-
Small KM, Wagoner LE, Levin AM, Kardia SL, Liggett SB 2002 Synergistic polymorphisms of β1- and α2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med 347:1135-1142
-
(2002)
N Engl J Med
, vol.347
, pp. 1135-1142
-
-
Small, K.M.1
Wagoner, L.E.2
Levin, A.M.3
Kardia, S.L.4
Liggett, S.B.5
-
55
-
-
0034607918
-
Export from the endoplasmic reticulum represents the limiting step in the maturation and cell surface expression of the human delta opioid receptor
-
Petaja-Repo UE, Hogue M, Laperriere A, Walker P, Bouvier M 2000 Export from the endoplasmic reticulum represents the limiting step in the maturation and cell surface expression of the human delta opioid receptor. J Biol Chem 275:13727-13736
-
(2000)
J Biol Chem
, vol.275
, pp. 13727-13736
-
-
Petaja-Repo, U.E.1
Hogue, M.2
Laperriere, A.3
Walker, P.4
Bouvier, M.5
-
57
-
-
0032079479
-
Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization
-
Tanaka H, Moroi K, Iwai J, Takahashi H, Ohnuma N, Hori S, Takimoto M, Nishiyama M, Masaki T, Yanagisawa M, Sekiya S, Kimura S 1998 Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization. J Biol Chem 273:11378-11383
-
(1998)
J Biol Chem
, vol.273
, pp. 11378-11383
-
-
Tanaka, H.1
Moroi, K.2
Iwai, J.3
Takahashi, H.4
Ohnuma, N.5
Hori, S.6
Takimoto, M.7
Nishiyama, M.8
Masaki, T.9
Yanagisawa, M.10
Sekiya, S.11
Kimura, S.12
-
58
-
-
0029761073
-
Expression and characterization of inactivating and activating mutations in the human Ca2 + o-sensing receptor
-
Bai M, Quinn S, Trivedi S, Kifor O, Pearce SH, Pollak MR, Krapcho K, Hebert SC, Brown EM 1996 Expression and characterization of inactivating and activating mutations in the human Ca2 + o-sensing receptor. J Biol Chem 271:19537-19545
-
(1996)
J Biol Chem
, vol.271
, pp. 19537-19545
-
-
Bai, M.1
Quinn, S.2
Trivedi, S.3
Kifor, O.4
Pearce, S.H.5
Pollak, M.R.6
Krapcho, K.7
Hebert, S.C.8
Brown, E.M.9
-
59
-
-
0036774528
-
Receptor-misrouting: An unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism
-
Leanos-Miranda A, Janovick JA, Conn PM 2002 Receptor-misrouting: an unexpectedly prevalent and rescuable etiology in gonadotropin-releasing hormone receptor-mediated hypogonadotropic hypogonadism. J Clin Endocrinol Metab 87:4825-4828
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4825-4828
-
-
Leanos-Miranda, A.1
Janovick, J.A.2
Conn, P.M.3
-
60
-
-
0033305435
-
New natural inactivating mutations of the follicle-stimulating hormone receptor: Correlations between receptor function and phenotype
-
Touraine P, Beau I, Gougeon A, Meduri G, Desroches A, Pichard C, Detoeuf M, Paniel B, Prieur M, Zorn JR, Milgrom E, Kuttenn F, Misrahi M 1999 New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Mol Endocrinol 13:1844-1854
-
(1999)
Mol Endocrinol
, vol.13
, pp. 1844-1854
-
-
Touraine, P.1
Beau, I.2
Gougeon, A.3
Meduri, G.4
Desroches, A.5
Pichard, C.6
Detoeuf, M.7
Paniel, B.8
Prieur, M.9
Zorn, J.R.10
Milgrom, E.11
Kuttenn, F.12
Misrahi, M.13
-
61
-
-
0037439274
-
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations
-
Lubrano-Berthelier C, Durand E, Dubern B, Shapiro A, Dazin P, Weill J, Ferron C, Froguel P, Vaisse C 2003 Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. Hum Mol Genet 12:145-153
-
(2003)
Hum Mol Genet
, vol.12
, 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
-
62
-
-
0037927578
-
Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity
-
Nijenhuis WA, Garner KM, VanRozen RJ, Adan RA 2003 Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. J Biol Chem 278:22939-22945
-
(2003)
J Biol Chem
, vol.278
, pp. 22939-22945
-
-
Nijenhuis, W.A.1
Garner, K.M.2
VanRozen, R.J.3
Adan, R.A.4
-
63
-
-
0025597137
-
The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
-
Hobbs HH, Russell DW, Brown MS, Goldstein JL 1990 The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 24:133-170
-
(1990)
Annu Rev Genet
, vol.24
, pp. 133-170
-
-
Hobbs, H.H.1
Russell, D.W.2
Brown, M.S.3
Goldstein, J.L.4
-
64
-
-
0036024269
-
Genetic predisposition to obesity in bulimia nervosa: A mutation screen of the melanocortin-4 receptor gene
-
Hebebrand J, Fichter M, Gerber G, Gorg T, Hermann H, Geller F, Schafer H, Remschmidt H, Hinney A 2002 Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4 receptor gene. Mol Psychiatry 7:647-651
-
(2002)
Mol Psychiatry
, vol.7
, pp. 647-651
-
-
Hebebrand, J.1
Fichter, M.2
Gerber, G.3
Gorg, T.4
Hermann, H.5
Geller, F.6
Schafer, H.7
Remschmidt, H.8
Hinney, A.9
-
65
-
-
0038521280
-
Cell surface expression of the melanocortin-4 receptor is dependent on a C-terminal di-isoleucine sequence at codons 316/317
-
VanLeeuwen D, Steffey ME, Donahue C, Ho G, MacKenzie RG 2003 Cell surface expression of the melanocortin-4 receptor is dependent on a C-terminal di-isoleucine sequence at codons 316/317. J Biol Chem 278:15935-15940
-
(2003)
J Biol Chem
, vol.278
, pp. 15935-15940
-
-
VanLeeuwen, D.1
Steffey, M.E.2
Donahue, C.3
Ho, G.4
MacKenzie, R.G.5
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