-
1
-
-
0001604424
-
The relation of adenosine-3′,5′-phosphate and phosphorylase to the actions of catecholamines and other hormones
-
Sutherland EW, Rall TW. The relation of adenosine-3′,5′-phosphate and phosphorylase to the actions of catecholamines and other hormones. Pharmacol Rev 1960;12:265-99.
-
(1960)
Pharmacol Rev
, vol.12
, pp. 265-299
-
-
Sutherland, E.W.1
Rall, T.W.2
-
2
-
-
0032402450
-
Molecular basis of receptor/G-protein-coupling selectivity
-
Wess J. Molecular basis of receptor/G-protein-coupling selectivity. Pharmacol Ther 1998;80:231-64.
-
(1998)
Pharmacol Ther
, vol.80
, pp. 231-264
-
-
Wess, J.1
-
4
-
-
0033118334
-
Molecular tinkering of G protein-coupled receptors: An evolutionary success
-
Bockaert J, Pin JP. Molecular tinkering of G protein-coupled receptors: an evolutionary success. EMBO J 1999;18:1723-9.
-
(1999)
EMBO J
, vol.18
, pp. 1723-1729
-
-
Bockaert, J.1
Pin, J.P.2
-
5
-
-
0037131192
-
Regulation of G protein-coupled receptor signaling by scaffold proteins
-
Hall RA, Lefkowitz RJ. Regulation of G protein-coupled receptor signaling by scaffold proteins. Circ Res 2002;91:672-80.
-
(2002)
Circ Res
, vol.91
, pp. 672-680
-
-
Hall, R.A.1
Lefkowitz, R.J.2
-
6
-
-
0035336844
-
Signaling at zero G: G-protein-independent functions for 7-TM receptors
-
Brzostowski JA, Kimmel AR. Signaling at zero G: G-protein-independent functions for 7-TM receptors, Trends Biochem Sci 2001;26:291-27.
-
(2001)
Trends Biochem Sci
, vol.26
, pp. 291-327
-
-
Brzostowski, J.A.1
Kimmel, A.R.2
-
7
-
-
0034307486
-
G-protein-independent signaling by G-protein-coupled receptors
-
Heuss C, Gerber U. G-protein-independent signaling by G-protein-coupled receptors. Trends Neurosci 2000;23:469-75.
-
(2000)
Trends Neurosci
, vol.23
, pp. 469-475
-
-
Heuss, C.1
Gerber, U.2
-
9
-
-
0029664589
-
The 2.0 Å crystal structure of a heterotrimeric G protein
-
Lambright DG, Sondek J, Bohm A, et al. The 2.0 Å crystal structure of a heterotrimeric G protein. Nature 1996;379:311-9.
-
(1996)
Nature
, vol.379
, pp. 311-319
-
-
Lambright, D.G.1
Sondek, J.2
Bohm, A.3
-
11
-
-
0035931919
-
Structural determinants for regulation of phosphodiesterase by a G protein at 2.0 Å
-
Slep KC, Kercher MA, He W, et al. Structural determinants for regulation of phosphodiesterase by a G protein at 2.0 Å. Nature 2001;409:1071-7.
-
(2001)
Nature
, vol.409
, pp. 1071-1077
-
-
Slep, K.C.1
Kercher, M.A.2
He, W.3
-
13
-
-
0033199157
-
Emerging roles for RGS proteins in cell signalling
-
Hepler JR. Emerging roles for RGS proteins in cell signalling. Trends Pharmacol Sci 1999;20:376-82.
-
(1999)
Trends Pharmacol Sci
, vol.20
, pp. 376-382
-
-
Hepler, J.R.1
-
15
-
-
0033783132
-
GTPase-activating proteins for heterotrimeric G proteins: Regulators of G protein signaling (RGS) and RGS-like proteins
-
Ross EM, Wilkie TM. GTPase-activating proteins for heterotrimeric G proteins: regulators of G protein signaling (RGS) and RGS-like proteins. Annu Rev Biochem 2000;69:795-827.
-
(2000)
Annu Rev Biochem
, vol.69
, pp. 795-827
-
-
Ross, E.M.1
Wilkie, T.M.2
-
17
-
-
0033605294
-
A novel PDZ domain containing guanine nucleotide exchange factor links heterotrimeric G proteins to Rho
-
Fukuhara S, Murga C, Zohar M, et al. A novel PDZ domain containing guanine nucleotide exchange factor links heterotrimeric G proteins to Rho. J Biol Chem 1999;274:5868-79.
-
(1999)
J Biol Chem
, vol.274
, pp. 5868-5879
-
-
Fukuhara, S.1
Murga, C.2
Zohar, M.3
-
18
-
-
0035398487
-
G-protein-coupled receptors and signaling networks: Emerging paradigms
-
Marinissen MJ, Gutkind JS. G-protein-coupled receptors and signaling networks: emerging paradigms. Trends Pharmacol Sci 2001;22:368-76.
-
(2001)
Trends Pharmacol Sci
, vol.22
, pp. 368-376
-
-
Marinissen, M.J.1
Gutkind, J.S.2
-
21
-
-
0033119012
-
The expanding spectrum of G protein diseases
-
Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med 1999;340:1012-20.
-
(1999)
N Engl J Med
, vol.340
, pp. 1012-1020
-
-
Farfel, Z.1
Bourne, H.R.2
Iiri, T.3
-
22
-
-
0034718938
-
Graves' disease
-
Weetman AP. Graves' disease. N Engl J Med 2000;343:1236-48.
-
(2000)
N Engl J Med
, vol.343
, pp. 1236-1248
-
-
Weetman, A.P.1
-
23
-
-
0033012398
-
Chemokine receptors as HIV-1 coreceptors: Roles in viral entry, tropism, and disease
-
Berger EA, Murphy PM, Farber JM. Chemokine receptors as HIV-1 coreceptors: roles in viral entry, tropism, and disease. Annu Rev Immunol 1999;17:657-700.
-
(1999)
Annu Rev Immunol
, vol.17
, pp. 657-700
-
-
Berger, E.A.1
Murphy, P.M.2
Farber, J.M.3
-
24
-
-
0035259780
-
Viral exploitation and subversion of the immune system through chemokine mimicry
-
Murphy PM. Viral exploitation and subversion of the immune system through chemokine mimicry. Nat Immunol 2001;2:116-22.
-
(2001)
Nat Immunol
, vol.2
, pp. 116-122
-
-
Murphy, P.M.1
-
25
-
-
0031032769
-
Human herpes-virus KSHV encodes a constitutively active G-protein-coupled receptor linked to cell proliferation
-
Arvanitakis L, Geras-Raaka E, Varma A, et al. Human herpes-virus KSHV encodes a constitutively active G-protein-coupled receptor linked to cell proliferation. Nature 1997;385:347-50.
-
(1997)
Nature
, vol.385
, pp. 347-350
-
-
Arvanitakis, L.1
Geras-Raaka, E.2
Varma, A.3
-
26
-
-
0034614888
-
Transgenic expression of the chemokine receptor encoded by human herpesvirus 8 induces an angioproliferative disease resembling Kaposi's sarcoma
-
Yang TY, Chen SC, Leach MW, et al. Transgenic expression of the chemokine receptor encoded by human herpesvirus 8 induces an angioproliferative disease resembling Kaposi's sarcoma. J Exp Med 2000;191:445-54.
-
(2000)
J Exp Med
, vol.191
, pp. 445-454
-
-
Yang, T.Y.1
Chen, S.C.2
Leach, M.W.3
-
27
-
-
0032526065
-
Right ventricular outflow tract tachycardia due to a somatic cell mutation in G protein subunitalphai2
-
Lerman BB, Dong B, Stein KM, et al. Right ventricular outflow tract tachycardia due to a somatic cell mutation in G protein subunitalphai2. J Clin Invest 1998;101:2862-8.
-
(1998)
J Clin Invest
, vol.101
, pp. 2862-2868
-
-
Lerman, B.B.1
Dong, B.2
Stein, K.M.3
-
28
-
-
0027787680
-
2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993;75:1297-303.
-
(1993)
Cell
, vol.75
, pp. 1297-1303
-
-
Pollak, M.R.1
Brown, E.M.2
Chou, Y.-H.W.3
-
29
-
-
0033820650
-
Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium
-
Brown EM. Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium. Endocrinol Metab Clin North Am 2000;29:503-22.
-
(2000)
Endocrinol Metab Clin North Am
, vol.29
, pp. 503-522
-
-
Brown, E.M.1
-
30
-
-
0025323257
-
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
-
Patten JL, Johns DR, Valle D, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 1990;322:1412-9.
-
(1990)
N Engl J Med
, vol.322
, pp. 1412-1419
-
-
Patten, J.L.1
Johns, D.R.2
Valle, D.3
-
31
-
-
0032981395
-
The role of genomic imprinting of G-alpha in the pathogenesis of Albright hereditary osteodystrophy
-
Weinstein LS, Yu S. The role of genomic imprinting of G-alpha in the pathogenesis of Albright hereditary osteodystrophy. Trends Endocrinol Metab 1999;10:81-5.
-
(1999)
Trends Endocrinol Metab
, vol.10
, pp. 81-85
-
-
Weinstein, L.S.1
Yu, S.2
-
32
-
-
0034793851
-
Endocrine manifestations of stimulatory G protein a-subunit mutations and the role of genomic imprinting
-
Weinstein LS, Yu SH, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein a-subunit mutations and the role of genomic imprinting. Endocr Rev 2001;22:675-705.
-
(2001)
Endocr Rev
, vol.22
, pp. 675-705
-
-
Weinstein, L.S.1
Yu, S.H.2
Warner, D.R.3
Liu, J.4
-
33
-
-
0029091772
-
Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the Gs alpha gene
-
Shenker A, Chanson P, Weinstein LS, et al. Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the Gs alpha gene. Hum Mol Genet 1995;4:1675-6.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1675-1676
-
-
Shenker, A.1
Chanson, P.2
Weinstein, L.S.3
-
34
-
-
0030111093
-
Activating mutations of Gs protein in monostotic fibrous lesions of bone
-
Alman BA, Greel DA, Wolfe HJ. Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res 1996;14:311-35.
-
(1996)
J Orthop Res
, vol.14
, pp. 311-335
-
-
Alman, B.A.1
Greel, D.A.2
Wolfe, H.J.3
-
35
-
-
0033971782
-
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone
-
Bianco P, Riminucci M, Majolagbe A, et al. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res 2000;15:120-8.
-
(2000)
J Bone Miner Res
, vol.15
, pp. 120-128
-
-
Bianco, P.1
Riminucci, M.2
Majolagbe, A.3
-
36
-
-
0033518280
-
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor
-
Liu G, Duranteau L, Carel JC, et al. Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. N Engl J Med 1999;341:1731-6.
-
(1999)
N Engl J Med
, vol.341
, pp. 1731-1736
-
-
Liu, G.1
Duranteau, L.2
Carel, J.C.3
-
37
-
-
0027372340
-
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
-
Shenker A, Laue L, Kosugi S, et al. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993;365:652-64.
-
(1993)
Nature
, vol.365
, pp. 652-664
-
-
Shenker, A.1
Laue, L.2
Kosugi, S.3
-
38
-
-
0011488314
-
Retinitis pigmentosa and allied diseases
-
Albert DM, Jakobiec FA, Azar DT, Gragoudas ES, editors. Philadelphia: WB Saunders
-
Berson EL. Retinitis pigmentosa and allied diseases. In: Albert DM, Jakobiec FA, Azar DT, Gragoudas ES, editors. Principles and practice of ophthalmology. Philadelphia: WB Saunders;2000. p. 2262-90.
-
(2000)
Principles and Practice of Ophthalmology
, pp. 2262-2290
-
-
Berson, E.L.1
-
39
-
-
0025105161
-
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
-
Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-6.
-
(1990)
Nature
, vol.343
, pp. 364-366
-
-
Dryja, T.P.1
McGee, T.L.2
Reichel, E.3
-
40
-
-
0026463972
-
Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa
-
Olsson JE, Gordon JW, Pawlyk BS, et al. Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron 1992;9:815-30.
-
(1992)
Neuron
, vol.9
, pp. 815-830
-
-
Olsson, J.E.1
Gordon, J.W.2
Pawlyk, B.S.3
-
41
-
-
0027251934
-
Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene
-
Naash MI, Hollyfield JG, al-Ubaidi MR, Baehr W. Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. Proc Natl Acad Sci U S A 1993;90:5499-503.
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 5499-5503
-
-
Naash, M.I.1
Hollyfield, J.G.2
Al-Ubaidi, M.R.3
Baehr, W.4
-
42
-
-
0037072934
-
A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system
-
Illing ME, Rajan RS, Bence NF, Kopito RR. A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J Biol Chem 2002;277:34150-60.
-
(2002)
J Biol Chem
, vol.277
, pp. 34150-34160
-
-
Illing, M.E.1
Rajan, R.S.2
Bence, N.F.3
Kopito, R.R.4
-
43
-
-
0037099080
-
The cellular fate of mutant rhodopsin: Quality control, degradation and aggresome formation
-
Saliba RS, Munro PM, Luthert PJ, Cheetham ME. The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J Cell Sci 2002;115:2907-18.
-
(2002)
J Cell Sci
, vol.115
, pp. 2907-2918
-
-
Saliba, R.S.1
Munro, P.M.2
Luthert, P.J.3
Cheetham, M.E.4
-
44
-
-
0037154184
-
Recent advances in the genetics and pathogenesis of Parkinson disease
-
Mouradian MM. Recent advances in the genetics and pathogenesis of Parkinson disease. Neurology 2002;58:179-85.
-
(2002)
Neurology
, vol.58
, pp. 179-185
-
-
Mouradian, M.M.1
-
45
-
-
0025944670
-
Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site
-
Keen TJ, Inglehearn CF, Lester DH, et al. Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics 1991;11:199-205.
-
(1991)
Genomics
, vol.11
, pp. 199-205
-
-
Keen, T.J.1
Inglehearn, C.F.2
Lester, D.H.3
-
47
-
-
0028947938
-
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration
-
Li T, Franson WK, Gordon JW, et al. Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci U S A 1995;92:3551-5.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 3551-3555
-
-
Li, T.1
Franson, W.K.2
Gordon, J.W.3
-
48
-
-
0027935666
-
A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment
-
Sung CH, Makino C, Baylor D, Nathans J. A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. J Neurosci 1994;14:5818-33.
-
(1994)
J Neurosci
, vol.14
, pp. 5818-5833
-
-
Sung, C.H.1
Makino, C.2
Baylor, D.3
Nathans, J.4
-
49
-
-
0030475229
-
Transgenic mice carrying the dominant rhodopsin mutation P347S: Evidence for defective vectorial transport of rhodopsin to the outer segments
-
Li T, Snyder WK, Olsson JE, Dryja TP. Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A 1996;93:14176-81.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 14176-14181
-
-
Li, T.1
Snyder, W.K.2
Olsson, J.E.3
Dryja, T.P.4
-
51
-
-
0036725693
-
Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations
-
Berson EL, Rosner B, Weigel-DiFranco C, et al. Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci 2002;43:3027-36.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 3027-3036
-
-
Berson, E.L.1
Rosner, B.2
Weigel-DiFranco, C.3
-
52
-
-
0026878962
-
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
-
Rosenfeld PJ, Cowley GS, McGee TL, et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet 1992;1:209-13.
-
(1992)
Nat Genet
, vol.1
, pp. 209-213
-
-
Rosenfeld, P.J.1
Cowley, G.S.2
McGee, T.L.3
-
53
-
-
0028789921
-
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
-
Huang SH, Pittler SJ, Huang X, et al. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet 1995;11:468-71.
-
(1995)
Nat Genet
, vol.11
, pp. 468-471
-
-
Huang, S.H.1
Pittler, S.J.2
Huang, X.3
-
54
-
-
0027270053
-
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
-
McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet 1993;4:130-4.
-
(1993)
Nat Genet
, vol.4
, pp. 130-134
-
-
McLaughlin, M.E.1
Sandberg, M.A.2
Berson, E.L.3
Dryja, T.P.4
-
55
-
-
0026755953
-
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment
-
Weitz CJ, Went LN, Nathans J. Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. Am J Hum Genet 1992;51:444-6.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 444-446
-
-
Weitz, C.J.1
Went, L.N.2
Nathans, J.3
-
56
-
-
0035022297
-
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa
-
Bareil C, Hamel CP, Delague V, et al. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet 2001;108:328-34.
-
(2001)
Hum Genet
, vol.108
, pp. 328-334
-
-
Bareil, C.1
Hamel, C.P.2
Delague, V.3
-
58
-
-
0027248024
-
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
-
Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 1993;4:280-3.
-
(1993)
Nat Genet
, vol.4
, pp. 280-283
-
-
Dryja, T.P.1
Berson, E.L.2
Rao, V.R.3
Oprian, D.D.4
-
59
-
-
0028798659
-
Dark-light: Model for night blindness from the human rhodopsin Gly-90→Asp mutation
-
Sieving PA, Richards JE, Naarendorp F, et al. Dark-light: model for night blindness from the human rhodopsin Gly-90→Asp mutation. Proc Natl Acad Sci U S A 1995;92:880-4.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 880-884
-
-
Sieving, P.A.1
Richards, J.E.2
Naarendorp, F.3
-
60
-
-
0028125886
-
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
-
Rao VR, Cohen GB, Oprian DD. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature 1994;367:639-42.
-
(1994)
Nature
, vol.367
, pp. 639-642
-
-
Rao, V.R.1
Cohen, G.B.2
Oprian, D.D.3
-
61
-
-
0035425947
-
Constitutive "light" adaptation in rods from G90D rhodopsin: A mechanism for human congenital nightblindness without rod cell loss
-
Sieving PA, Fowler ML, Bush RA, et al. Constitutive "light" adaptation in rods from G90D rhodopsin: a mechanism for human congenital nightblindness without rod cell loss. J Neurosci 2001;21:5449-60.
-
(2001)
J Neurosci
, vol.21
, pp. 5449-5460
-
-
Sieving, P.A.1
Fowler, M.L.2
Bush, R.A.3
-
62
-
-
0029902034
-
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness
-
Dryja TP, Hahn LB, Reboul T, Arnaud B. Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet 1996;13:358-60.
-
(1996)
Nat Genet
, vol.13
, pp. 358-360
-
-
Dryja, T.P.1
Hahn, L.B.2
Reboul, T.3
Arnaud, B.4
-
63
-
-
0026026818
-
The GTPase superfamily: Conserved structure and molecular mechanism
-
Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: conserved structure and molecular mechanism. Nature 1991;349:117-27.
-
(1991)
Nature
, vol.349
, pp. 117-127
-
-
Bourne, H.R.1
Sanders, D.A.2
McCormick, F.3
-
64
-
-
0025193871
-
Three-dimensional structures of H-ras p21 mutants: Molecular basis for their inability to function as signal switch molecules
-
Krengel U, Schlichting L, Scherer A, et al. Three-dimensional structures of H-ras p21 mutants: molecular basis for their inability to function as signal switch molecules. Cell 1990;62:539-48.
-
(1990)
Cell
, vol.62
, pp. 539-548
-
-
Krengel, U.1
Schlichting, L.2
Scherer, A.3
-
65
-
-
0031789648
-
Rod and cone function in the Nougaret form of stationary night blindness
-
Sandberg MA, Pawlyk BS, Dan J, et al. Rod and cone function in the Nougaret form of stationary night blindness. Arch Ophthalmol 1998;116:867-72.
-
(1998)
Arch Ophthalmol
, vol.116
, pp. 867-872
-
-
Sandberg, M.A.1
Pawlyk, B.S.2
Dan, J.3
-
66
-
-
0034629343
-
Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness
-
Muradov KG, Artemyev NO. Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness. J Biol Chem 2000;275:6969-74.
-
(2000)
J Biol Chem
, vol.275
, pp. 6969-6974
-
-
Muradov, K.G.1
Artemyev, N.O.2
-
67
-
-
0028128535
-
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
-
Gal A, Orth U, Baehr W, et al. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet 1994;7:64-8.
-
(1994)
Nat Genet
, vol.7
, pp. 64-68
-
-
Gal, A.1
Orth, U.2
Baehr, W.3
-
68
-
-
0027369421
-
Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas
-
Parma J, Duprez L, Van Sande J, et al. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993;365:649-51.
-
(1993)
Nature
, vol.365
, pp. 649-651
-
-
Parma, J.1
Duprez, L.2
Van Sande, J.3
-
69
-
-
0028240982
-
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
-
Duprez L, Parma J, Van Sande J, et al. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 1994;7:396-401.
-
(1994)
Nat Genet
, vol.7
, pp. 396-401
-
-
Duprez, L.1
Parma, J.2
Van Sande, J.3
-
71
-
-
0030734932
-
Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism
-
Fuhrer D, Wonerow P, Willgerodt H, Paschke R. Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 1997;82:4234-8.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 4234-4238
-
-
Fuhrer, D.1
Wonerow, P.2
Willgerodt, H.3
Paschke, R.4
-
72
-
-
0031406420
-
Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene
-
Kopp P, Jameson JL, Roe TF. Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. Thyroid 1997;7:765-70.
-
(1997)
Thyroid
, vol.7
, pp. 765-770
-
-
Kopp, P.1
Jameson, J.L.2
Roe, T.F.3
-
73
-
-
0033312613
-
A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family
-
Khoo DH, Parma J, Rajasoorya C, et al. A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. J Clin Endocrinol Metab 1999;84:1459-62.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 1459-1462
-
-
Khoo, D.H.1
Parma, J.2
Rajasoorya, C.3
-
74
-
-
9044240477
-
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
-
Tonacchera M, Van Sande J, Cetani F, et al. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 1996;81:547-54.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 547-554
-
-
Tonacchera, M.1
Van Sande, J.2
Cetani, F.3
-
75
-
-
0034853605
-
The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism
-
Biebermann H, Schoneberg T, Hess C, et al. The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 2001;86:4429-33.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4429-4433
-
-
Biebermann, H.1
Schoneberg, T.2
Hess, C.3
-
76
-
-
0036002619
-
An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism
-
Lee YS, Poh L, Loke KY. An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism. J Pediatr Endocrinol Metab 2002;15:211-25.
-
(2002)
J Pediatr Endocrinol Metab
, vol.15
, pp. 211-225
-
-
Lee, Y.S.1
Poh, L.2
Loke, K.Y.3
-
77
-
-
0034852079
-
A novel germline mutation in the TSH receptor gene causes nonautoimmune autosomal dominant hyperthyroidism
-
Alberti L, Proverbio MC, Costagliola S, et al. A novel germline mutation in the TSH receptor gene causes nonautoimmune autosomal dominant hyperthyroidism. Eur J Endocrinol 2001;145:249-54.
-
(2001)
Eur J Endocrinol
, vol.145
, pp. 249-254
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
-
78
-
-
0031470487
-
Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism
-
Schwab KO, Gerlich M, Broecker M, et al. Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism. J Pediatr 1997;131:899-904.
-
(1997)
J Pediatr
, vol.131
, pp. 899-904
-
-
Schwab, K.O.1
Gerlich, M.2
Broecker, M.3
-
79
-
-
0031772403
-
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor
-
Gruters A, Schoneberg T, Biebermann H, et al. Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. J Clin Endocrinol Metab 1998;83:1431-6.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1431-1436
-
-
Gruters, A.1
Schoneberg, T.2
Biebermann, H.3
-
80
-
-
0033773141
-
Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene
-
Tonacchera M, Agretti P, Rosellini V, et al. Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. Thyroid 2000;10:859-63.
-
(2000)
Thyroid
, vol.10
, pp. 859-863
-
-
Tonacchera, M.1
Agretti, P.2
Rosellini, V.3
-
81
-
-
0032751937
-
A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis
-
Esapa CT, Duprez L, Ludgate M, et al. A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis. Thyroid 1999;9:1005-10.
-
(1999)
Thyroid
, vol.9
, pp. 1005-1010
-
-
Esapa, C.T.1
Duprez, L.2
Ludgate, M.3
-
82
-
-
0028829472
-
Clinical review 75: Recent advances in pathogenesis, diagnosis, and management of acromegaly
-
Melmed S, Ho K, Klibanski A, et al. Clinical review 75: recent advances in pathogenesis, diagnosis, and management of acromegaly. J Clin Endocrinol Metab 1995;80:3395-402.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3395-3402
-
-
Melmed, S.1
Ho, K.2
Klibanski, A.3
-
83
-
-
0031948965
-
New options for diagnosing and treating acromegaly
-
Barkan AL. New options for diagnosing and treating acromegaly. Cleve Clin J Med 1998;65:343, 347-9.
-
(1998)
Cleve Clin J Med
, vol.65
, pp. 343
-
-
Barkan, A.L.1
-
85
-
-
0023522307
-
Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas
-
Vallar L, Spada A, Giannattasio G. Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature 1987;330:566-8.
-
(1987)
Nature
, vol.330
, pp. 566-568
-
-
Vallar, L.1
Spada, A.2
Giannattasio, G.3
-
86
-
-
0024404145
-
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours
-
Landis CA, Masters SB, Spada A, et al. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989;340:692-6.
-
(1989)
Nature
, vol.340
, pp. 692-696
-
-
Landis, C.A.1
Masters, S.B.2
Spada, A.3
-
87
-
-
0029882954
-
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients
-
Yang I, Park S, Ryu M, et al. Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. Eur J Endocrinol 1996;134:720-76.
-
(1996)
Eur J Endocrinol
, vol.134
, pp. 720-776
-
-
Yang, I.1
Park, S.2
Ryu, M.3
-
88
-
-
0027325891
-
Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction-primer-introduced restriction analysis
-
Yoshimoto K, Iwahana H, Fukuda A, et al. Rare mutations of the Gs alpha subunit gene in human endocrine tumors. Mutation detection by polymerase chain reaction-primer-introduced restriction analysis. Cancer 1993;72:1386-193.
-
(1993)
Cancer
, vol.72
, pp. 1386-2193
-
-
Yoshimoto, K.1
Iwahana, H.2
Fukuda, A.3
-
89
-
-
0032173907
-
Detection of gsp oncogene in growth hormone-secreting pituitary adenomas and the study of clinical characteristics of acromegalic patients with gsp-positive pituitary tumors
-
Shi Y, Tang D, Deng J, Su C. Detection of gsp oncogene in growth hormone-secreting pituitary adenomas and the study of clinical characteristics of acromegalic patients with gsp-positive pituitary tumors. Chin Med J (Engl) 1998;111:891-4.
-
(1998)
Chin Med J (Engl)
, vol.111
, pp. 891-894
-
-
Shi, Y.1
Tang, D.2
Deng, J.3
Su, C.4
-
90
-
-
17744393215
-
Prevalence of Gs alpha mutations in Korean patients with pituitary adenomas
-
Kim HJ, Kim MS, Park YJ, et al. Prevalence of Gs alpha mutations in Korean patients with pituitary adenomas. J Endocrinol 2001;168:221-6.
-
(2001)
J Endocrinol
, vol.168
, pp. 221-226
-
-
Kim, H.J.1
Kim, M.S.2
Park, Y.J.3
-
91
-
-
0027519698
-
Analysis of the Gs alpha gene in growth hormone-secreting pituitary adenomas by the polymerase chain reaction-direct sequencing method using paraffin-embedded tissues
-
Hosoi E, Yokogoshi Y, Hosoi E, et al. Analysis of the Gs alpha gene in growth hormone-secreting pituitary adenomas by the polymerase chain reaction-direct sequencing method using paraffin-embedded tissues. Acta Endocrinol (Copenh) 1993;129:301-36.
-
(1993)
Acta Endocrinol (Copenh)
, vol.129
, pp. 301-336
-
-
Hosoi, E.1
Yokogoshi, Y.2
Hosoi, E.3
-
93
-
-
0025127424
-
Two G protein oncogenes in human endocrine tumors
-
Lyons J, Landis CA, Harsh G, et al. Two G protein oncogenes in human endocrine tumors. Science 1990;249:655-69.
-
(1990)
Science
, vol.249
, pp. 655-669
-
-
Lyons, J.1
Landis, C.A.2
Harsh, G.3
-
94
-
-
0032995963
-
Gps mutations in Chilean patients harboring growth hormone-secreting pituitary tumors
-
Johnson MC, Codner E, Eggers M, et al. Gps mutations in Chilean patients harboring growth hormone-secreting pituitary tumors. J Pediatr Endocrinol Metab 1999;12:381-7.
-
(1999)
J Pediatr Endocrinol Metab
, vol.12
, pp. 381-387
-
-
Johnson, M.C.1
Codner, E.2
Eggers, M.3
-
97
-
-
0028027596
-
GTPase mechanism of G proteins from the 1.7-A crystal structure of transducin alpha-GDP-AIF-4
-
Sondek J, Lambright DG, Noel JP, et al. GTPase mechanism of G proteins from the 1.7-A crystal structure of transducin alpha-GDP-AIF-4. Nature 1994;372:276-9.
-
(1994)
Nature
, vol.372
, pp. 276-279
-
-
Sondek, J.1
Lambright, D.G.2
Noel, J.P.3
-
98
-
-
0024839696
-
Hydrolysis of GTP by the alpha-chain of Gs and other GTP binding proteins
-
Bourne HR, Landis CA, Masters SB. Hydrolysis of GTP by the alpha-chain of Gs and other GTP binding proteins. Proteins 1989;6:222-30.
-
(1989)
Proteins
, vol.6
, pp. 222-230
-
-
Bourne, H.R.1
Landis, C.A.2
Masters, S.B.3
-
99
-
-
0024854388
-
Mutations of GS alpha designed to alter the reactivity of the protein with bacterial toxins. Substitutions at ARG187 result in loss of GTPase activity
-
Freissmuth M, Gilman AG. Mutations of GS alpha designed to alter the reactivity of the protein with bacterial toxins. Substitutions at ARG187 result in loss of GTPase activity. J Biol Chem 1989;264:21907-14.
-
(1989)
J Biol Chem
, vol.264
, pp. 21907-21914
-
-
Freissmuth, M.1
Gilman, A.G.2
-
100
-
-
0022446058
-
Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity
-
Carney JA, Hruska LS, Beauchamp GD, Gordon H. Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Mayo Clin Proc 1986;61:165-72.
-
(1986)
Mayo Clin Proc
, vol.61
, pp. 165-172
-
-
Carney, J.A.1
Hruska, L.S.2
Beauchamp, G.D.3
Gordon, H.4
-
101
-
-
0022397926
-
The complex of myxomas, spotty pigmentation, and endocrine overactivity
-
Carney JA, Gordon H, Carpenter PC, et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore) 1985;64:270-83.
-
(1985)
Medicine (Baltimore)
, vol.64
, pp. 270-283
-
-
Carney, J.A.1
Gordon, H.2
Carpenter, P.C.3
-
102
-
-
0035001830
-
Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes
-
Stratakis CA. Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes. J Endocrinol Invest 2001;24:370-83.
-
(2001)
J Endocrinol Invest
, vol.24
, pp. 370-383
-
-
Stratakis, C.A.1
-
103
-
-
0034853288
-
Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation
-
Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001;86:4041-6.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4041-4046
-
-
Stratakis, C.A.1
Kirschner, L.S.2
Carney, J.A.3
-
104
-
-
0021929851
-
Differences between nonfamilial and familial cardiac myxoma
-
Carney JA. Differences between nonfamilial and familial cardiac myxoma. Am J Surg Pathol 1985;9:53-5.
-
(1985)
Am J Surg Pathol
, vol.9
, pp. 53-55
-
-
Carney, J.A.1
-
105
-
-
0030049026
-
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2
-
Stratakis CA, Carney JA, Lin JP, et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 1996;97:699-705.
-
(1996)
J Clin Invest
, vol.97
, pp. 699-705
-
-
Stratakis, C.A.1
Carney, J.A.2
Lin, J.P.3
-
106
-
-
0032497947
-
Identification of a novel genetic locus for familial cardiac myxomas and Carney complex
-
Casey M, Mah C, Merliss AD, et al. Identification of a novel genetic locus for familial cardiac myxomas and Carney complex. Circulation 1998;98:2560-6.
-
(1998)
Circulation
, vol.98
, pp. 2560-2566
-
-
Casey, M.1
Mah, C.2
Merliss, A.D.3
-
107
-
-
0033812849
-
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex
-
Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000;26:89-92.
-
(2000)
Nat Genet
, vol.26
, pp. 89-92
-
-
Kirschner, L.S.1
Carney, J.A.2
Pack, S.D.3
-
108
-
-
0034642302
-
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
-
Kirschner LS, Sandrini F, Monbo J, et al. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 2000;9:3037-46.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3037-3046
-
-
Kirschner, L.S.1
Sandrini, F.2
Monbo, J.3
-
109
-
-
18544406892
-
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex
-
Casey M, Vaughan CJ, He J, et al. Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest 2000;106:R31-8.
-
(2000)
J Clin Invest
, vol.106
-
-
Casey, M.1
Vaughan, C.J.2
He, J.3
-
111
-
-
0030627190
-
Structure, function, and regulation of human cAMP-dependent protein kinases
-
Tasken K, Skalhegg BS, Tasken KA, et al. Structure, function, and regulation of human cAMP-dependent protein kinases. Adv Second Messenger Phosphoprotein Res 1997;31:191-204.
-
(1997)
Adv Second Messenger Phosphoprotein Res
, vol.31
, pp. 191-204
-
-
Tasken, K.1
Skalhegg, B.S.2
Tasken, K.A.3
-
112
-
-
0030930754
-
Type II regulatory subunits are not required for the anchoring-dependent modulation of Ca2+ channel activity by cAMP-dependent protein kinase
-
Burton KA, Johnson BD, Hausken ZE, et al. Type II regulatory subunits are not required for the anchoring-dependent modulation of Ca2+ channel activity by cAMP-dependent protein kinase. Proc Natl Acad Sci U S A 1997;94:11067-72.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 11067-11072
-
-
Burton, K.A.1
Johnson, B.D.2
Hausken, Z.E.3
-
113
-
-
0030614908
-
Compensatory regulation of RIalpha protein levels in protein kinase A mutant mice
-
Amieux PS, Cummings DE, Motamed K, et al. Compensatory regulation of RIalpha protein levels in protein kinase A mutant mice. J Biol Chem 1997;272:3993-8.
-
(1997)
J Biol Chem
, vol.272
, pp. 3993-3998
-
-
Amieux, P.S.1
Cummings, D.E.2
Motamed, K.3
-
114
-
-
0037133693
-
G protein-coupled receptor kinase 4 gene variants in human essential hypertension
-
Felder RA, Sanada H, Xu J, et al. G protein-coupled receptor kinase 4 gene variants in human essential hypertension. Proc Natl Acad Sci U S A 2002;99:3872-7.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 3872-3877
-
-
Felder, R.A.1
Sanada, H.2
Xu, J.3
-
115
-
-
0029067542
-
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese
-
Fuchs S, Nakazawa M, Maw M, et al. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet 1995;10:360-2.
-
(1995)
Nat Genet
, vol.10
, pp. 360-362
-
-
Fuchs, S.1
Nakazawa, M.2
Maw, M.3
-
116
-
-
0031038950
-
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
-
Yamamoto S, Sippel KC, Berson EL, Dryja TP. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 1997;15:175-8.
-
(1997)
Nat Genet
, vol.15
, pp. 175-178
-
-
Yamamoto, S.1
Sippel, K.C.2
Berson, E.L.3
Dryja, T.P.4
-
117
-
-
0031006407
-
Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus
-
Cheong HI, Park HW, Ha IS, et al. Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus. Nephron 1997;75:431-47.
-
(1997)
Nephron
, vol.75
, pp. 431-447
-
-
Cheong, H.I.1
Park, H.W.2
Ha, I.S.3
-
118
-
-
0032862476
-
Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report
-
Gherman RB, Bowen E, Eggleston MK, et al. Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report. J Reprod Med 1999;44:745-77.
-
(1999)
J Reprod Med
, vol.44
, pp. 745-777
-
-
Gherman, R.B.1
Bowen, E.2
Eggleston, M.K.3
-
119
-
-
0031565726
-
An alpha-carbon template for the transmembrane helices in the rhodopsin family of G-protein-coupled receptors
-
Baldwin JM, Schertler GF, Unger VM. An alpha-carbon template for the transmembrane helices in the rhodopsin family of G-protein-coupled receptors. J Mol Biol 1997;272:144-64.
-
(1997)
J Mol Biol
, vol.272
, pp. 144-164
-
-
Baldwin, J.M.1
Schertler, G.F.2
Unger, V.M.3
-
120
-
-
0034604451
-
Crystal structure of rhodopsin: A G protein-coupled receptor
-
Palczewski K, Kumasaka T, Hori T, et al. Crystal structure of rhodopsin: a G protein-coupled receptor. Science 2000;289:739-45.
-
(2000)
Science
, vol.289
, pp. 739-745
-
-
Palczewski, K.1
Kumasaka, T.2
Hori, T.3
-
121
-
-
0033843626
-
Towards 3D structures of G protein-coupled receptors: A multidisciplinary approach
-
Muller G. Towards 3D structures of G protein-coupled receptors: a multidisciplinary approach. Curr Med Chem 2000;7:861-88.
-
(2000)
Curr Med Chem
, vol.7
, pp. 861-888
-
-
Muller, G.1
-
122
-
-
0001169515
-
Antagonists with negative intrinsic activity at delta opioid receptors coupled to GTP-binding proteins
-
Costa T, Herz A. Antagonists with negative intrinsic activity at delta opioid receptors coupled to GTP-binding proteins. Proc Natl Acad Sci U S A 1989;86:7321-5.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 7321-7325
-
-
Costa, T.1
Herz, A.2
-
123
-
-
0034741106
-
5-Hydroxytryptamine2A receptor inverse agonists as antipsychotics
-
Weiner DM, Burstein ES, Nash N, et al. 5-hydroxytryptamine2A receptor inverse agonists as antipsychotics. J Pharmacol Exp Ther 2001;299:268-76.
-
(2001)
J Pharmacol Exp Ther
, vol.299
, pp. 268-276
-
-
Weiner, D.M.1
Burstein, E.S.2
Nash, N.3
-
124
-
-
0033976851
-
Use of constitutive G protein-coupled receptor activity for drug discovery
-
Chen G, Way J, Armour S, et al. Use of constitutive G protein-coupled receptor activity for drug discovery. Mol Pharmacol 2000;57:125-34.
-
(2000)
Mol Pharmacol
, vol.57
, pp. 125-134
-
-
Chen, G.1
Way, J.2
Armour, S.3
-
125
-
-
0031543433
-
G-protein-coupled receptors in Saccharomyces cerevisiae: High-throughput screening assays for drug discovery
-
Pausch MH. G-protein-coupled receptors in Saccharomyces cerevisiae: high-throughput screening assays for drug discovery. Trends Biotechnol 1997;15:487-94.
-
(1997)
Trends Biotechnol
, vol.15
, pp. 487-494
-
-
Pausch, M.H.1
-
126
-
-
85084247357
-
High-throughput screening for drug discovery
-
Broach JR, Thorner J. High-throughput screening for drug discovery. Nature 1996;384:14-6.
-
(1996)
Nature
, vol.384
, pp. 14-16
-
-
Broach, J.R.1
Thorner, J.2
-
127
-
-
0038540424
-
Validation of genomics-derived drug targets using yeast
-
Klein I. Validation of genomics-derived drug targets using yeast. Drug Discov Today 2000;5:37-8.
-
(2000)
Drug Discov Today
, vol.5
, pp. 37-38
-
-
Klein, I.1
-
128
-
-
0035271616
-
Allosteric modulation of G protein-coupled receptors
-
Ijzerman A, Kourounakis A, van der Klein P. Allosteric modulation of G protein-coupled receptors. Farmaco 2001;56:67-70.
-
(2001)
Farmaco
, vol.56
, pp. 67-70
-
-
Ijzerman, A.1
Kourounakis, A.2
Van der Klein, P.3
-
129
-
-
0033029793
-
Calcimimetic compounds: A direct approach to controlling plasma levels of parathyroid hormone in hyperparathyroidism
-
Nemeth EF, Fox J. Calcimimetic compounds: a direct approach to controlling plasma levels of parathyroid hormone in hyperparathyroidism. Trends Endocrinol Metab 1999;10:66-71.
-
(1999)
Trends Endocrinol Metab
, vol.10
, pp. 66-71
-
-
Nemeth, E.F.1
Fox, J.2
-
130
-
-
0031763613
-
Treatment of hypercalcemia secondary to parathyroid carcinoma with a novel calcimimetic agent
-
Collins MT, Skarulis MC, Bilezikian JP, et al. Treatment of hypercalcemia secondary to parathyroid carcinoma with a novel calcimimetic agent. J Clin Endocrinol Metab 1998;83:1083-8.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1083-1088
-
-
Collins, M.T.1
Skarulis, M.C.2
Bilezikian, J.P.3
-
131
-
-
0035818605
-
Positive allosteric modulators of metabotropic glutamate 1 receptor: Characterization, mechanism of action, and binding site
-
Knoflach F, Mutel V, Jolidon S, et al. Positive allosteric modulators of metabotropic glutamate 1 receptor: characterization, mechanism of action, and binding site. Proc Natl Acad Sci U S A 2001;98:13402-7.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 13402-13407
-
-
Knoflach, F.1
Mutel, V.2
Jolidon, S.3
-
132
-
-
0032590063
-
Adenosine A1 receptor-dependent and -independent effects of the allosteric enhancer PD 81,723
-
Musser B, Mudumbi RV, Liu J, et al. Adenosine A1 receptor-dependent and -independent effects of the allosteric enhancer PD 81,723. J Pharmacol Exp Ther 1999;288:446-54.
-
(1999)
J Pharmacol Exp Ther
, vol.288
, pp. 446-454
-
-
Musser, B.1
Mudumbi, R.V.2
Liu, J.3
-
134
-
-
0035170060
-
SCH-202676: An allosteric modulator of both agonist and antagonist binding to G protein-coupled receptors
-
Fawzi AB, Macdonald D, Benbow LL, et al. SCH-202676: an allosteric modulator of both agonist and antagonist binding to G protein-coupled receptors. Mol Pharmacol 2001;59:30-7.
-
(2001)
Mol Pharmacol
, vol.59
, pp. 30-37
-
-
Fawzi, A.B.1
Macdonald, D.2
Benbow, L.L.3
-
135
-
-
0036174608
-
Dimerization: An emerging concept for G protein-coupled receptor ontogeny and function
-
Angers S, Salahpour A, Bouvier M. Dimerization: an emerging concept for G protein-coupled receptor ontogeny and function. Annu Rev Pharmacol Toxicol 2002;42:409-35.
-
(2002)
Annu Rev Pharmacol Toxicol
, vol.42
, pp. 409-435
-
-
Angers, S.1
Salahpour, A.2
Bouvier, M.3
-
136
-
-
0032574982
-
RAMPs regulate the transport and ligand specificity of the calcitonin-receptor-like receptor
-
McLatchie LM, Fraser NJ, Main MJ, et al. RAMPs regulate the transport and ligand specificity of the calcitonin-receptor-like receptor. Nature 1998;393:333-9.
-
(1998)
Nature
, vol.393
, pp. 333-339
-
-
McLatchie, L.M.1
Fraser, N.J.2
Main, M.J.3
-
137
-
-
0034646972
-
Mammalian calcitonin receptor-like receptor/receptor activity modifying protein complexes define calcitonin gene-related peptide and adrenomedullin receptors in Drosophila Schneider 2 cells
-
Aldecoa A, Gujer R, Fischer JA, Born W. Mammalian calcitonin receptor-like receptor/receptor activity modifying protein complexes define calcitonin gene-related peptide and adrenomedullin receptors in Drosophila Schneider 2 cells. FEBS Lett 2000;471:156-60.
-
(2000)
FEBS Lett
, vol.471
, pp. 156-160
-
-
Aldecoa, A.1
Gujer, R.2
Fischer, J.A.3
Born, W.4
-
138
-
-
0035800877
-
Protein-protein interaction and not glycosylation determines the binding selectivity of heterodimers between the calcitonin receptor-like receptor and the receptor activity-modifying proteins
-
Hilairet S, Foord SM, Marshall FH, Bouvier M. Protein-protein interaction and not glycosylation determines the binding selectivity of heterodimers between the calcitonin receptor-like receptor and the receptor activity-modifying proteins. J Biol Chem 2001;276:29575-81.
-
(2001)
J Biol Chem
, vol.276
, pp. 29575-29581
-
-
Hilairet, S.1
Foord, S.M.2
Marshall, F.H.3
Bouvier, M.4
-
139
-
-
0030970135
-
Homer: A protein that selectively binds metabotropic glutamate receptors
-
Brakeman PR, Lanahan AA, O'Brien R, et al. Homer: a protein that selectively binds metabotropic glutamate receptors. Nature 1997;386:284-8.
-
(1997)
Nature
, vol.386
, pp. 284-288
-
-
Brakeman, P.R.1
Lanahan, A.A.2
O'Brien, R.3
-
140
-
-
0033679292
-
Structure of the Homer EVH1 domain-peptide complex reveals a new twist in polyproline recognition
-
Beneken J, Tu IC, Xiao B, et al. Structure of the Homer EVH1 domain-peptide complex reveals a new twist in polyproline recognition. Neuron 2000;26:143-54.
-
(2000)
Neuron
, vol.26
, pp. 143-154
-
-
Beneken, J.1
Tu, I.C.2
Xiao, B.3
-
141
-
-
0033598771
-
Involvement of unique leucine-zipper motif of PSD-Zip45 (Homer 1c/vesl-1L) in group 1 metabotropic glutamate receptor clustering
-
Tadokoro S, Tachibana T, Imanaka T, et al. Involvement of unique leucine-zipper motif of PSD-Zip45 (Homer 1c/vesl-1L) in group 1 metabotropic glutamate receptor clustering. Proc Natl Acad Sci U S A 1999;96:13801-6.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 13801-13806
-
-
Tadokoro, S.1
Tachibana, T.2
Imanaka, T.3
-
142
-
-
0033964384
-
Homer-1c/Vesl-1L modulates the cell surface targeting of metabotropic glutamate receptor type 1alpha: Evidence for an anchoring function
-
Ciruela F, Soloviev MM, Chan WY, McIlhinney RA. Homer-1c/Vesl-1L modulates the cell surface targeting of metabotropic glutamate receptor type 1alpha: evidence for an anchoring function. Mol Cell Neurosci 2000;15:36-50.
-
(2000)
Mol Cell Neurosci
, vol.15
, pp. 36-50
-
-
Ciruela, F.1
Soloviev, M.M.2
Chan, W.Y.3
McIlhinney, R.A.4
-
143
-
-
0037093469
-
Synaptic multiprotein complexes associated with 5-HT(2C) receptors: A proteomic approach
-
Becamel C, Alonso G, Galeotti N, et al. Synaptic multiprotein complexes associated with 5-HT(2C) receptors: a proteomic approach. EMBO J 2002;21:2332-42.
-
(2002)
EMBO J
, vol.21
, pp. 2332-2342
-
-
Becamel, C.1
Alonso, G.2
Galeotti, N.3
-
144
-
-
0032498963
-
The beta2-adrenergic receptor interacts with the Na+/H+-exchanger regulatory factor to control Na+/H+ exchange
-
Hall RA, Premont RT, Chow CW, et al. The beta2-adrenergic receptor interacts with the Na+/H+-exchanger regulatory factor to control Na+/H+ exchange. Nature 1998;392:626-30.
-
(1998)
Nature
, vol.392
, pp. 626-630
-
-
Hall, R.A.1
Premont, R.T.2
Chow, C.W.3
-
146
-
-
0035013840
-
Regulator of G protein signaling proteins: Novel multifunctional drug targets
-
Zhong H, Neubig RR. Regulator of G protein signaling proteins: novel multifunctional drug targets. J Pharmacol Exp Ther 2001;297:837-45.
-
(2001)
J Pharmacol Exp Ther
, vol.297
, pp. 837-845
-
-
Zhong, H.1
Neubig, R.R.2
-
147
-
-
0036937166
-
Regulators of G protein signaling (RGS proteins): Novel central nervous system drug targets
-
Neubig RR. Regulators of G protein signaling (RGS proteins): novel central nervous system drug targets. J Pept Res 2002;60:312-36.
-
(2002)
J Pept Res
, vol.60
, pp. 312-336
-
-
Neubig, R.R.1
-
148
-
-
0035101820
-
Evolving concepts in G protein-coupled receptor endocytosis: The role in receptor desensitization and signaling
-
Ferguson SS. Evolving concepts in G protein-coupled receptor endocytosis: the role in receptor desensitization and signaling. Pharmacol Rev 2001;53:1-24.
-
(2001)
Pharmacol Rev
, vol.53
, pp. 1-24
-
-
Ferguson, S.S.1
-
149
-
-
0035487327
-
Classical and new roles of beta-arrestins in the regulation of G-protein-coupled receptors
-
Pierce KL, Lefkowitz RJ. Classical and new roles of beta-arrestins in the regulation of G-protein-coupled receptors. Nat Rev Neurosci 2001;2:727-33.
-
(2001)
Nat Rev Neurosci
, vol.2
, pp. 727-733
-
-
Pierce, K.L.1
Lefkowitz, R.J.2
-
150
-
-
0029864554
-
Carboxyl-terminal fragments of phospholipase C-beta1 with intrinsic Gq GTPase-activating protein (GAP) activity
-
Paulssen RH, Woodson J, Liu Z, Ross EM. Carboxyl-terminal fragments of phospholipase C-beta1 with intrinsic Gq GTPase-activating protein (GAP) activity. J Biol Chem 1996;271:26622-9.
-
(1996)
J Biol Chem
, vol.271
, pp. 26622-26629
-
-
Paulssen, R.H.1
Woodson, J.2
Liu, Z.3
Ross, E.M.4
-
153
-
-
0032480888
-
Epac is a Rap1 guanine-nucleotide-exchange factor directly activated by cyclic AMP
-
de Rooij J, Zwartkruis FJ, Verheijen MH, et al. Epac is a Rap1 guanine-nucleotide-exchange factor directly activated by cyclic AMP. Nature 1998;396:474-7.
-
(1998)
Nature
, vol.396
, pp. 474-477
-
-
De Rooij, J.1
Zwartkruis, F.J.2
Verheijen, M.H.3
-
154
-
-
0034268796
-
Src tyrosine kinase is a novel direct effector of G proteins
-
Ma YC, Huang JY, All S, et al. Src tyrosine kinase is a novel direct effector of G proteins. Cell 2000;102:635-46.
-
(2000)
Cell
, vol.102
, pp. 635-646
-
-
Ma, Y.C.1
Huang, J.Y.2
All, S.3
-
155
-
-
0034721868
-
Stabilization of the GDP-bound conformation of Gialpha by a peptide derived from the G-protein regulatory motif of AGS3
-
Peterson YK, Bernard ML, Ma H, et al. Stabilization of the GDP-bound conformation of Gialpha by a peptide derived from the G-protein regulatory motif of AGS3. J Biol Chem 2000;275:33193-6.
-
(2000)
J Biol Chem
, vol.275
, pp. 33193-33196
-
-
Peterson, Y.K.1
Bernard, M.L.2
Ma, H.3
-
156
-
-
0035340989
-
Inhibition of GDP/GTP exchange on G alpha subunits by proteins containing G-protein regulatory motifs
-
Natochin M, Gasimov KG, Artemyev NO. Inhibition of GDP/GTP exchange on G alpha subunits by proteins containing G-protein regulatory motifs. Biochemistry 2001;40:5322-8.
-
(2001)
Biochemistry
, vol.40
, pp. 5322-5328
-
-
Natochin, M.1
Gasimov, K.G.2
Artemyev, N.O.3
-
157
-
-
0037171778
-
Structural determinants for GoLoco-induced inhibition of nucleotide release by Galpha subunits
-
Kimple RJ, Kimple ME, Betts L, et al. Structural determinants for GoLoco-induced inhibition of nucleotide release by Galpha subunits. Nature 2002;416:878-81.
-
(2002)
Nature
, vol.416
, pp. 878-881
-
-
Kimple, R.J.1
Kimple, M.E.2
Betts, L.3
-
158
-
-
0028122479
-
Missense rhodopsin mutation in a family with recessive RP
-
Kumaramanickavel G, Maw M, Denton MJ, et al. Missense rhodopsin mutation in a family with recessive RP. Nat Genet 1994;8:10-1.
-
(1994)
Nat Genet
, vol.8
, pp. 10-11
-
-
Kumaramanickavel, G.1
Maw, M.2
Denton, M.J.3
-
159
-
-
0028820045
-
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
-
Dryja TP, Finn JT, Peng YW, et al. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A 1995;92:10177-81.
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 10177-10181
-
-
Dryja, T.P.1
Finn, J.T.2
Peng, Y.W.3
-
160
-
-
0024449541
-
Molecular genetics of human blue cone monochromacy
-
Nathans J, Davenport CM, Maumenee IH, et al. Molecular genetics of human blue cone monochromacy. Science 1989;245:831-88.
-
(1989)
Science
, vol.245
, pp. 831-888
-
-
Nathans, J.1
Davenport, C.M.2
Maumenee, I.H.3
-
161
-
-
0027436009
-
Genetic heterogeneity among blue-cone monochromats
-
Nathans J, Maumenee IH, Zrenner E, et al. Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet 1993;53:987-1000.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 987-1000
-
-
Nathans, J.1
Maumenee, I.H.2
Zrenner, E.3
-
162
-
-
0026581759
-
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin
-
Weitz CJ, Miyake Y, Shinzato K, et al. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am J Hum Genet 1992;50:498-507.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 498-507
-
-
Weitz, C.J.1
Miyake, Y.2
Shinzato, K.3
-
163
-
-
0036071242
-
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
-
Kohl S, Baumann B, Rosenberg T, et al. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 2002;71:422-45.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 422-445
-
-
Kohl, S.1
Baumann, B.2
Rosenberg, T.3
-
164
-
-
0031803762
-
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
-
Kohl S, Marx T, Giddings I, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998;19:257-9.
-
(1998)
Nat Genet
, vol.19
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
-
165
-
-
0034284696
-
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
-
Kohl S, Baumann B, Broghammer M, et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 2000;9:2107-16.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2107-2116
-
-
Kohl, S.1
Baumann, B.2
Broghammer, M.3
-
166
-
-
0033211151
-
Single nucleotide polymorphisms of the N-formyl peptide receptor in localized juvenile periodontitis
-
Gwinn MR, Sharma A, De Nardin E. Single nucleotide polymorphisms of the N-formyl peptide receptor in localized juvenile periodontitis. J Periodontol 1999;70:1194-201.
-
(1999)
J Periodontol
, vol.70
, pp. 1194-1201
-
-
Gwinn, M.R.1
Sharma, A.2
De Nardin, E.3
-
167
-
-
0035834685
-
Defective Gi protein coupling in two formyl peptide receptor mutants associated with localized juvenile periodontitis
-
Seifert R, Wenzel-Seifert K. Defective Gi protein coupling in two formyl peptide receptor mutants associated with localized juvenile periodontitis. J Biol Chem 2001;276:42043-9.
-
(2001)
J Biol Chem
, vol.276
, pp. 42043-42049
-
-
Seifert, R.1
Wenzel-Seifert, K.2
-
168
-
-
17344366286
-
Association of a human G-protein b3 subunit variant with hypertension
-
Siffert W, Rosskopf D, Siffert G, et al. Association of a human G-protein b3 subunit variant with hypertension. Nat Genet 1998;18:45-8.
-
(1998)
Nat Genet
, vol.18
, pp. 45-48
-
-
Siffert, W.1
Rosskopf, D.2
Siffert, G.3
-
169
-
-
0037391281
-
Identification and characterization of Gbeta3s2, a novel splice variant of the G-protein beta3 subunit
-
Rosskopf D, Manthey I, Habich C, et al. Identification and characterization of Gbeta3s2, a novel splice variant of the G-protein beta3 subunit. Biochem J 2003;371:223-32.
-
(2003)
Biochem J
, vol.371
, pp. 223-232
-
-
Rosskopf, D.1
Manthey, I.2
Habich, C.3
-
170
-
-
0028909901
-
G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas
-
Williamson EA, Ince PG, Harrison D, et al. G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. Eur J Clin Invest 1995;25:128-31.
-
(1995)
Eur J Clin Invest
, vol.25
, pp. 128-131
-
-
Williamson, E.A.1
Ince, P.G.2
Harrison, D.3
-
171
-
-
0036159168
-
An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma
-
Riminucci M, Collins MT, Lala R, et al. An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma. Mol Pathol 2002;55:58-60.
-
(2002)
Mol Pathol
, vol.55
, pp. 58-60
-
-
Riminucci, M.1
Collins, M.T.2
Lala, R.3
-
172
-
-
0027340743
-
Activating mutations of the Gs alpha-gene in nonfunctioning pituitary tumors
-
Tordjman K, Stern N, Ouaknine G, et al. Activating mutations of the Gs alpha-gene in nonfunctioning pituitary tumors. J Clin Endocrinol Metab 1993;77:765-79.
-
(1993)
J Clin Endocrinol Metab
, vol.77
, pp. 765-779
-
-
Tordjman, K.1
Stern, N.2
Ouaknine, G.3
-
173
-
-
0028670141
-
Gs alpha and Gi2 alpha mutations in clinically non-functioning pituitary tumours
-
Williamson EA, Daniels M, Foster S, et al. Gs alpha and Gi2 alpha mutations in clinically non-functioning pituitary tumours. Clin Endocrinol (Oxf) 1994;41:815-20.
-
(1994)
Clin Endocrinol (Oxf)
, vol.41
, pp. 815-820
-
-
Williamson, E.A.1
Daniels, M.2
Foster, S.3
-
174
-
-
0026003074
-
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
-
Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991;325:1688-95.
-
(1991)
N Engl J Med
, vol.325
, pp. 1688-1695
-
-
Weinstein, L.S.1
Shenker, A.2
Gejman, P.V.3
-
176
-
-
0026664955
-
Mutational activation of RAS and GSP oncogenes in differentiated thyroid cancer and their biological implications
-
Goretzki PE, Lyons J, Stacy-Phipps S, et al. Mutational activation of RAS and GSP oncogenes in differentiated thyroid cancer and their biological implications. World J Surg 1992;16:576-81.
-
(1992)
World J Surg
, vol.16
, pp. 576-581
-
-
Goretzki, P.E.1
Lyons, J.2
Stacy-Phipps, S.3
-
177
-
-
0029821316
-
Absence of the previously reported G protein oncogene (gip2) in ovarian granulosa cell tumors
-
Shen Y, Mamers P, Jobling T, et al. Absence of the previously reported G protein oncogene (gip2) in ovarian granulosa cell tumors. J Clin Endocrinol Metab 1996;81:4159-61.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4159-4161
-
-
Shen, Y.1
Mamers, P.2
Jobling, T.3
-
178
-
-
0030266415
-
Mutation analysis of gonadotropin receptor and G protein genes in various types of human ovarian tumors
-
Ichikawa Y, Yoshida S, Suzuki H, et al. Mutation analysis of gonadotropin receptor and G protein genes in various types of human ovarian tumors. Jpn J Clin Oncol 1996;26:298-302.
-
(1996)
Jpn J Clin Oncol
, vol.26
, pp. 298-302
-
-
Ichikawa, Y.1
Yoshida, S.2
Suzuki, H.3
-
179
-
-
0028983355
-
Oncogenic mutations of alpha-Gi2 protein are not determinant for human adrenocortical tumourigenesis
-
Gicquel C, Dib A, Bertagna X, et al. Oncogenic mutations of alpha-Gi2 protein are not determinant for human adrenocortical tumourigenesis. Eur J Endocrinol 1995;133:166-72.
-
(1995)
Eur J Endocrinol
, vol.133
, pp. 166-172
-
-
Gicquel, C.1
Dib, A.2
Bertagna, X.3
-
180
-
-
0027368204
-
No evidence for oncogenic mutations in guanine nucleotide-binding proteins of human adrenocortical neoplasms
-
Reincke M, Karl M, Travis W, Chrousos GP. No evidence for oncogenic mutations in guanine nucleotide-binding proteins of human adrenocortical neoplasms. J Clin Endocrinol Metab 1993;77:1419-22.
-
(1993)
J Clin Endocrinol Metab
, vol.77
, pp. 1419-1422
-
-
Reincke, M.1
Karl, M.2
Travis, W.3
Chrousos, G.P.4
-
181
-
-
0027934280
-
Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing's syndrome and nodular adrenal hyperplasia
-
Boston BA, Mandel S, LaFranchi S, Bliziotes M. Activating mutation in the stimulatory guanine nucleotide-binding protein in an infant with Cushing's syndrome and nodular adrenal hyperplasia. J Clin Endocrinol Metab 1994;79:890-3.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 890-893
-
-
Boston, B.A.1
Mandel, S.2
LaFranchi, S.3
Bliziotes, M.4
-
182
-
-
0033762171
-
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
-
Liu J, Litman D, Rosenberg MJ, et al. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 2000;106:1167-74.
-
(2000)
J Clin Invest
, vol.106
, pp. 1167-1174
-
-
Liu, J.1
Litman, D.2
Rosenberg, M.J.3
-
183
-
-
0027423948
-
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
-
Tsigos C, Arai K, Hung W, Chrousos GP. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993;92:2458-61.
-
(1993)
J Clin Invest
, vol.92
, pp. 2458-2461
-
-
Tsigos, C.1
Arai, K.2
Hung, W.3
Chrousos, G.P.4
-
184
-
-
0027396787
-
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor
-
Clark AJ, McLoughlin L, Grossman A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 1993;341:461-2.
-
(1993)
Lancet
, vol.341
, pp. 461-462
-
-
Clark, A.J.1
McLoughlin, L.2
Grossman, A.3
-
185
-
-
0030829977
-
The dwarfs of Sindh: Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
-
Baumann G, Maheshwari H. The dwarfs of Sindh: severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr Suppl 1997;423:33-8.
-
(1997)
Acta Paediatr Suppl
, vol.423
, pp. 33-38
-
-
Baumann, G.1
Maheshwari, H.2
-
186
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
Abramowicz MJ, Duprez L, Parma J, et al. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 1997;99:3018-24.
-
(1997)
J Clin Invest
, vol.99
, pp. 3018-3024
-
-
Abramowicz, M.J.1
Duprez, L.2
Parma, J.3
-
187
-
-
17144439793
-
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
-
Layman LC, Cohen DP, Jin M, et al. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet 1998;18:14-5.
-
(1998)
Nat Genet
, vol.18
, pp. 14-15
-
-
Layman, L.C.1
Cohen, D.P.2
Jin, M.3
-
188
-
-
0030698188
-
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
-
de Roux N, Young J, Misrahi M, et al. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med 1997;337:1597-602.
-
(1997)
N Engl J Med
, vol.337
, pp. 1597-1602
-
-
De Roux, N.1
Young, J.2
Misrahi, M.3
-
189
-
-
0028835899
-
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
-
Kremer H, Kraaij R, Toledo SP, et al. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet 1995;9:160-4.
-
(1995)
Nat Genet
, vol.9
, pp. 160-164
-
-
Kremer, H.1
Kraaij, R.2
Toledo, S.P.3
-
190
-
-
0030596101
-
Functional and clinical consequences of mutations in the FSH receptor
-
Gromoll J, Simoni M, Nordhoff V, et al. Functional and clinical consequences of mutations in the FSH receptor. Mol Cell Endocrinol 1996;125:177-82.
-
(1996)
Mol Cell Endocrinol
, vol.125
, pp. 177-182
-
-
Gromoll, J.1
Simoni, M.2
Nordhoff, V.3
-
191
-
-
0027956207
-
sa in patients with gain and loss of endocrine function
-
sa in patients with gain and loss of endocrine function. Nature 1994;371:164-8.
-
(1994)
Nature
, vol.371
, pp. 164-168
-
-
Iiri, T.1
Herzmark, P.2
Nakamoto, J.M.3
-
192
-
-
0028037143
-
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation
-
Pollak MR, Brown EM, Estep HL, et al. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 1994;8:303-37.
-
(1994)
Nat Genet
, vol.8
, pp. 303-337
-
-
Pollak, M.R.1
Brown, E.M.2
Estep, H.L.3
-
193
-
-
0032961258
-
A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease
-
Svensson PJ, Von Tell D, Molander ML, et al. A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res 1999;45:714-77.
-
(1999)
Pediatr Res
, vol.45
, pp. 714-777
-
-
Svensson, P.J.1
Von Tell, D.2
Molander, M.L.3
-
194
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-66.
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
-
195
-
-
0028862473
-
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
-
Attie T, Till M, Pelet A, et al. Mutation of the endothelin-receptor B
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2407-2409
-
-
Attie, T.1
Till, M.2
Pelet, A.3
-
196
-
-
0034726747
-
Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients
-
Abe Y, Sakurai T, Yamada T, et al. Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients. Biochem Biophys Res Commun 2000;275:524-31.
-
(2000)
Biochem Biophys Res Commun
, vol.275
, pp. 524-531
-
-
Abe, Y.1
Sakurai, T.2
Yamada, T.3
-
197
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12:442-4.
-
(1996)
Nat Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
-
198
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
Hofstra RM, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996;12:445-7.
-
(1996)
Nat Genet
, vol.12
, pp. 445-447
-
-
Hofstra, R.M.1
Osinga, J.2
Tan-Sindhunata, G.3
-
199
-
-
0023598429
-
Hemorrhagic thrombocytopathy with platelet thromboxane A2 receptor abnormality: Defective signal transduction with normal binding activity
-
Ushikubi F, Okuma M, Kanaji K, et al. Hemorrhagic thrombocytopathy with platelet thromboxane A2 receptor abnormality: defective signal transduction with normal binding activity. Thromb Haemost 1987;57:158-64.
-
(1987)
Thromb Haemost
, vol.57
, pp. 158-164
-
-
Ushikubi, F.1
Okuma, M.2
Kanaji, K.3
-
200
-
-
0028170151
-
Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder
-
Hirata T, Kakizuka A, Ushikubi F, et al. Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest 1994;94:1662-7.
-
(1994)
J Clin Invest
, vol.94
, pp. 1662-1667
-
-
Hirata, T.1
Kakizuka, A.2
Ushikubi, F.3
-
201
-
-
0026935109
-
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus
-
van den Ouweland AM, Dreesen JC, Verdijk M, et al. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet 1992;2:99-102.
-
(1992)
Nat Genet
, vol.2
, pp. 99-102
-
-
Van den Ouweland, A.M.1
Dreesen, J.C.2
Verdijk, M.3
-
202
-
-
0026937176
-
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
-
Pan Y, Metzenberg A, Das S, et al. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet 1992;2:103-16.
-
(1992)
Nat Genet
, vol.2
, pp. 103-116
-
-
Pan, Y.1
Metzenberg, A.2
Das, S.3
-
203
-
-
0026744306
-
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
-
Rosenthal W, Seibold A, Antaramian A, et al. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 1992;359:233-5.
-
(1992)
Nature
, vol.359
, pp. 233-235
-
-
Rosenthal, W.1
Seibold, A.2
Antaramian, A.3
-
204
-
-
0033869518
-
Activating Gs (alpha) mutation in intramuscular myxomas with and without fibrous dysplasia of bone
-
Okamoto S, Hisaoka M, Ushijima M, et al. Activating Gs (alpha) mutation in intramuscular myxomas with and without fibrous dysplasia of bone. Virchows Arch 2000;437:133-7.
-
(2000)
Virchows Arch
, vol.437
, pp. 133-137
-
-
Okamoto, S.1
Hisaoka, M.2
Ushijima, M.3
-
205
-
-
0033793009
-
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification
-
Eddy MC, Jan De Beur SM, Yandow SM, et al. Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res 2000;15:2074-83.
-
(2000)
J Bone Miner Res
, vol.15
, pp. 2074-2083
-
-
Eddy, M.C.1
Jan De Beur, S.M.2
Yandow, S.M.3
-
206
-
-
0037050365
-
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
-
Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 2002;346:99-106.
-
(2002)
N Engl J Med
, vol.346
, pp. 99-106
-
-
Shore, E.M.1
Ahn, J.2
Jan de Beur, S.3
-
207
-
-
0037162114
-
GNAS1 mutations and progressive osseous heteroplasia
-
Ahmed SF, Barr DG, Bonthron DT. GNAS1 mutations and progressive osseous heteroplasia. N Engl J Med 2002;346:1669-71.
-
(2002)
N Engl J Med
, vol.346
, pp. 1669-1671
-
-
Ahmed, S.F.1
Barr, D.G.2
Bonthron, D.T.3
-
208
-
-
0031725947
-
Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia
-
Karaplis AC, He B, Nguyen MT, et al. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 1998;139:5255-8.
-
(1998)
Endocrinology
, vol.139
, pp. 5255-5258
-
-
Karaplis, A.C.1
He, B.2
Nguyen, M.T.3
-
209
-
-
0031769483
-
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia
-
Zhang P, Jobert AS, Couvineau A, Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 1998;83:3365-8.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3365-3368
-
-
Zhang, P.1
Jobert, A.S.2
Couvineau, A.3
Silve, C.4
-
210
-
-
0028943780
-
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
-
Schipani E, Kruse K, Juppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995;268:98-100.
-
(1995)
Science
, vol.268
, pp. 98-100
-
-
Schipani, E.1
Kruse, K.2
Juppner, H.3
-
211
-
-
0028133063
-
Distinct patterns of bidirectional regulation of mammalian adenylyl cyclases
-
Taussig R, Tang WJ, Hepler JR, Gilman AG. Distinct patterns of bidirectional regulation of mammalian adenylyl cyclases. J Biol Chem 1994;269:6093-100.
-
(1994)
J Biol Chem
, vol.269
, pp. 6093-6100
-
-
Taussig, R.1
Tang, W.J.2
Hepler, J.R.3
Gilman, A.G.4
-
212
-
-
0033618396
-
Modulation of rap activity by direct interaction of Galpha(o) with Rap1 GTPase-activating protein
-
Jordan JD, Carey KD, Stork PJ, Iyengar R. Modulation of rap activity by direct interaction of Galpha(o) with Rap1 GTPase-activating protein. J Biol Chem 1999;274:21507-10.
-
(1999)
J Biol Chem
, vol.274
, pp. 21507-21510
-
-
Jordan, J.D.1
Carey, K.D.2
Stork, P.J.3
Iyengar, R.4
-
213
-
-
0033578884
-
A candidate target for G protein action in brain
-
Chen LT Gilman AG, Kozasa T. A candidate target for G protein action in brain. J Biol Chem 1999;274:26931-8.
-
(1999)
J Biol Chem
, vol.274
, pp. 26931-26938
-
-
Chen, L.T.1
Gilman, A.G.2
Kozasa, T.3
-
214
-
-
0025836752
-
Characterization of G-protein alpha subunits in the Gq class: Expression in murine tissues and in stromal and hematopoietic cell lines
-
Wilkie TM, Scherle PA, Strathmann MP, et al. Characterization of G-protein alpha subunits in the Gq class: expression in murine tissues and in stromal and hematopoietic cell lines. Proc Natl Acad Sci U S A 1991;88:10049-53.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 10049-10053
-
-
Wilkie, T.M.1
Scherle, P.A.2
Strathmann, M.P.3
-
215
-
-
0029985041
-
A novel form of the G protein beta subunit Gbeta5 is specifically expressed in the vertebrate retina
-
Watson AJ, Aragay AM, Slepak VZ, Simon MI. A novel form of the G protein beta subunit Gbeta5 is specifically expressed in the vertebrate retina. J Biol Chem 1996;271:28154-60.
-
(1996)
J Biol Chem
, vol.271
, pp. 28154-28160
-
-
Watson, A.J.1
Aragay, A.M.2
Slepak, V.Z.3
Simon, M.I.4
|