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Volumn 58, Issue , 1996, Pages 143-170

Defects in G protein-coupled signal transduction in human disease

Author keywords

endocrine hyperfunction; GTPase; hormone resistance; mutations; receptor

Indexed keywords

CALCITONIN RECEPTOR; CANNABINOID RECEPTOR; CHORIONIC GONADOTROPIN RECEPTOR; CORTICOTROPIN RECEPTOR; ENDOTHELIN B RECEPTOR; FOLLITROPIN RECEPTOR; GLYCOPROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN; HORMONE RECEPTOR; INTERMEDIN; LUTEINIZING HORMONE RECEPTOR; MONOAMINE; OPSIN; PARATHYROID HORMONE RECEPTOR; THROMBOXANE A2 RECEPTOR; THYROTROPIN RECEPTOR; VASOPRESSIN V2 RECEPTOR;

EID: 0029963793     PISSN: 00664278     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.ph.58.030196.001043     Document Type: Review
Times cited : (189)

References (90)
  • 2
    • 0028227013 scopus 로고
    • Structure and function of receptors coupled to G proteins
    • Baldwin JM. 1994. Structure and function of receptors coupled to G proteins. Curr. Opin. Cell Biol. 6:180-90
    • (1994) Curr. Opin. Cell Biol. , vol.6 , pp. 180-190
    • Baldwin, J.M.1
  • 7
    • 0028941941 scopus 로고
    • Defective G protein activation of the cAMP pathway in rat kidney during genetic hypertension
    • Chatziantoniou C, Ruan X, Arendshorst WJ. 1995. Defective G protein activation of the cAMP pathway in rat kidney during genetic hypertension. Proc. Natl. Acad. Sci. USA 92:2924-28
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 2924-2928
    • Chatziantoniou, C.1    Ruan, X.2    Arendshorst, W.J.3
  • 9
    • 0028326794 scopus 로고
    • Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
    • Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, et al. 1994. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264:92-95
    • (1994) Science , vol.264 , pp. 92-95
    • Deen, P.M.1    Verdijk, M.A.2    Knoers, N.V.3    Wieringa, B.4    Monnens, L.A.5
  • 10
    • 0028240982 scopus 로고
    • Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
    • Duprez L, Parma J, Van Sande J, Allgeier A, Leclère J, et al. 1994. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat. Genet. 7:396-401
    • (1994) Nat. Genet. , vol.7 , pp. 396-401
    • Duprez, L.1    Parma, J.2    Van Sande, J.3    Allgeier, A.4    Leclère, J.5
  • 11
    • 0028210108 scopus 로고
    • Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors
    • Friedman E, Adams EF, Hoog A, Gejman PV, Carson E, et al. 1994. Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors. J. Clin. Endocrinol. Metab. 78: 568-74
    • (1994) J. Clin. Endocrinol. Metab. , vol.78 , pp. 568-574
    • Friedman, E.1    Adams, E.F.2    Hoog, A.3    Gejman, P.V.4    Carson, E.5
  • 12
    • 0027265595 scopus 로고
    • GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
    • Godfrey P, Rahal JO, Beamer WG, Copeland NG, Jenkins NA, Mayo KE. 1993. GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat. Genet. 4:227-32
    • (1993) Nat. Genet. , vol.4 , pp. 227-232
    • Godfrey, P.1    Rahal, J.O.2    Beamer, W.G.3    Copeland, N.G.4    Jenkins, N.A.5    Mayo, K.E.6
  • 13
    • 0028300554 scopus 로고
    • Active site-directed inactivation of constitutively active mutants of rhodopsin
    • Govardhan CP, Oprian DD. 1994. Active site-directed inactivation of constitutively active mutants of rhodopsin. J. Biol. Chem. 269:6524-27
    • (1994) J. Biol. Chem. , vol.269 , pp. 6524-6527
    • Govardhan, C.P.1    Oprian, D.D.2
  • 15
    • 0028848010 scopus 로고
    • A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus
    • Hager J, Hansen L, Vaisse C, Vionnet N, Philippi A, et al. 1995. A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Nat. Genet. 9:299-304
    • (1995) Nat. Genet. , vol.9 , pp. 299-304
    • Hager, J.1    Hansen, L.2    Vaisse, C.3    Vionnet, N.4    Philippi, A.5
  • 19
    • 0028940268 scopus 로고
    • Insertion of an Alu sequence in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
    • Janicic N, Pausova Z, Cole DC, Hendy GN. 1995. Insertion of an Alu sequence in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am. J. Hum. Genet. 56:880-86
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 880-886
    • Janicic, N.1    Pausova, Z.2    Cole, D.C.3    Hendy, G.N.4
  • 22
    • 0028891649 scopus 로고
    • Brief report, congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
    • Kopp P, Van Sande J, Parma J, Duprez L, Gerber H, et al. 1995. Brief report, congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. New Engl. J. Med. 332:150-54
    • (1995) New Engl. J. Med. , vol.332 , pp. 150-154
    • Kopp, P.1    Van Sande, J.2    Parma, J.3    Duprez, L.4    Gerber, H.5
  • 23
    • 0028909975 scopus 로고
    • Characterization of heterozygous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
    • Kosugi S, Van Dop C, Geffner ME, Rabl W, Carel J-C, et al. 1995. Characterization of heterozygous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. Hum. Mol. Genet. 4:183-88
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 183-188
    • Kosugi, S.1    Van Dop, C.2    Geffner, M.E.3    Rabl, W.4    Carel, J.-C.5
  • 24
    • 0028835899 scopus 로고
    • Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
    • Kremer H, Kraaij R, Toledo SPA, Post M, Fridman JB, et al. 1995. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat. Genet. 9:160-64
    • (1995) Nat. Genet. , vol.9 , pp. 160-164
    • Kremer, H.1    Kraaij, R.2    Toledo, S.P.A.3    Post, M.4    Fridman, J.B.5
  • 25
    • 0027497051 scopus 로고
    • Cosegregatton of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
    • Kremer H, Mariman E, Otten BJ, Moll GWJ, Stoelinga GBA, et al. 1993. Cosegregatton of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Hum. Mol. Genet. 2:1779-83
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1779-1783
    • Kremer, H.1    Mariman, E.2    Otten, B.J.3    Moll, G.W.J.4    Stoelinga, G.B.A.5
  • 28
    • 0028948974 scopus 로고
    • No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasm
    • Latronico AC, Reincke M, Mendonca BB, Arai K, Mora P, et al. 1995. No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasm. J. Clin. Endocrinol. Metab. 80:875-77
    • (1995) J. Clin. Endocrinol. Metab. , vol.80 , pp. 875-877
    • Latronico, A.C.1    Reincke, M.2    Mendonca, B.B.3    Arai, K.4    Mora, P.5
  • 29
    • 0028944310 scopus 로고
    • Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty
    • Laue L, Chan WY, Hsueh AJW, Kudo M, Hsu SY, et al. 1995. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc. Natl. Acad. Sci. USA 92:1906-10
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 1906-1910
    • Laue, L.1    Chan, W.Y.2    Hsueh, A.J.W.3    Kudo, M.4    Hsu, S.Y.5
  • 30
    • 9244225272 scopus 로고
    • An inactivating mutation of the human luteinizing hormone receptor gene in familial Leydig cell hypoplasia
    • Abstr. 391
    • Laue L, Wu SM, Kudo M, Hsueh AJW, Griffin JE, et al. 1994. An inactivating mutation of the human luteinizing hormone receptor gene in familial Leydig cell hypoplasia. Mol. Biol. Cell 5:68a (Abstr. 391)
    • (1994) Mol. Biol. Cell , vol.5
    • Laue, L.1    Wu, S.M.2    Kudo, M.3    Hsueh, A.J.W.4    Griffin, J.E.5
  • 33
    • 0027488507 scopus 로고
    • Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: Implications for the structure and function of rhodopsin
    • Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, et al. 1993. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Am. J. Hum. Genet. 53:80-89
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 80-89
    • Macke, J.P.1    Davenport, C.M.2    Jacobson, S.G.3    Hennessey, J.C.4    Gonzalez-Fernandez, F.5
  • 34
    • 0027741139 scopus 로고
    • Separate GTP binding and GTPase activating domains of a Gα subunit
    • Markby DW, Onrust R, Bourne HR. 1993. Separate GTP binding and GTPase activating domains of a Gα subunit. Science 262:1895-901
    • (1993) Science , vol.262 , pp. 1895-1901
    • Markby, D.W.1    Onrust, R.2    Bourne, H.R.3
  • 37
    • 0027273840 scopus 로고
    • Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa: Mutations on the cytoplasmic surface affect transducin activation
    • Min KC, Zvygaga TA, Cypress AM, Sakmar TP. 1993. Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa: mutations on the cytoplasmic surface affect transducin activation. J. Biol. Chem. 268:9400-4
    • (1993) J. Biol. Chem. , vol.268 , pp. 9400-9404
    • Min, K.C.1    Zvygaga, T.A.2    Cypress, A.M.3    Sakmar, T.P.4
  • 38
    • 0028018939 scopus 로고
    • In the eye of the beholder: Visual pigments and inherited variation in human vision
    • Nathans J. 1994. In the eye of the beholder: visual pigments and inherited variation in human vision. Cell 78:357-60
    • (1994) Cell , vol.78 , pp. 357-360
    • Nathans, J.1
  • 39
    • 0028860268 scopus 로고
    • Heterotrimeric G proteins: Organizers of transmembrane signals
    • Neer EJ. 1995. Heterotrimeric G proteins: organizers of transmembrane signals. Cell 80:249-57
    • (1995) Cell , vol.80 , pp. 249-257
    • Neer, E.J.1
  • 41
    • 0027132717 scopus 로고
    • The 2.2 Å crystal structure of transducin-alpha complexed with GTP gamma S
    • Noel JP, Hamm HE, Sigler PB. 1993. The 2.2 Å crystal structure of transducin-alpha complexed with GTP gamma S. Nature 366:654-63
    • (1993) Nature , vol.366 , pp. 654-663
    • Noel, J.P.1    Hamm, H.E.2    Sigler, P.B.3
  • 43
    • 0027948084 scopus 로고
    • 2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin
    • 2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin. J. Biol. Chem. 269:31933-37
    • (1994) J. Biol. Chem. , vol.269 , pp. 31933-31937
    • Pan, Y.1    Wilson, P.2    Gitschier, J.3
  • 44
    • 0027369421 scopus 로고
    • Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas
    • Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, et al. 1993. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-51
    • (1993) Nature , vol.365 , pp. 649-651
    • Parma, J.1    Duprez, L.2    Van Sande, J.3    Cochaux, P.4    Gervy, C.5
  • 45
    • 0028588698 scopus 로고
    • Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid
    • Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G. 1994. Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J. Clin. Endocrinol. Metab. 79:1785-89
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 1785-1789
    • Paschke, R.1    Tonacchera, M.2    Van Sande, J.3    Parma, J.4    Vassart, G.5
  • 46
    • 1542402448 scopus 로고
    • Four novel mutations in the calcium-sensing receptor gene associated with familial benign (hypocalciuric) hypercalcemia
    • Abstr.
    • Pearce SHS, Trump D, Wooding C, Besser GM, Chew SL, et al. 1994. Four novel mutations in the calcium-sensing receptor gene associated with familial benign (hypocalciuric) hypercalcemia. J. Bone Miner. Res. 9:S145 (Abstr.)
    • (1994) J. Bone Miner. Res. , vol.9
    • Pearce, S.H.S.1    Trump, D.2    Wooding, C.3    Besser, G.M.4    Chew, S.L.5
  • 47
    • 0002857324 scopus 로고
    • A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism
    • Abstr.
    • Perry YM, Finegold DN, Armitage MM, Ferrell RE. 1994. A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism. Am. J. Hum. Genet. 55:A17 (Abstr.)
    • (1994) Am. J. Hum. Genet. , vol.55
    • Perry, Y.M.1    Finegold, D.N.2    Armitage, M.M.3    Ferrell, R.E.4
  • 48
    • 0028037143 scopus 로고
    • Autosomal dominant hypocalcemia caused by a calcium-sensing receptor gene mutation
    • Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, et al. 1994. Autosomal dominant hypocalcemia caused by a calcium-sensing receptor gene mutation. Nat. Genet. 8:303-7
    • (1994) Nat. Genet. , vol.8 , pp. 303-307
    • Pollak, M.R.1    Brown, E.M.2    Estep, H.L.3    McLaine, P.N.4    Kifor, O.5
  • 49
    • 0027787680 scopus 로고
    • 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 75:1297-303
    • (1993) Cell , vol.75 , pp. 1297-1303
    • Pollak, M.R.1    Brown, E.M.2    Wu Chou, Y.-H.3    Hebert, S.C.4    Marx, S.J.5
  • 50
    • 0028220464 scopus 로고
    • Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: Effects of mutant gene dosage on phenotype
    • Pollak MR, Wu Chou Y-H, Marx SJ, Steinmann B, Cole DEC, et al. 1994. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenotype. J. Clin. Invest. 93:1108-12
    • (1994) J. Clin. Invest. , vol.93 , pp. 1108-1112
    • Pollak, M.R.1    Wu Chou, Y.-H.2    Marx, S.J.3    Steinmann, B.4    Cole, D.E.C.5
  • 51
    • 0028040908 scopus 로고
    • Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy
    • Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G, Avvedimento VE. 1994. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy. J. Clin. Endocrinol. Metab. 79:657-61
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 657-661
    • Porcellini, A.1    Ciullo, I.2    Laviola, L.3    Amabile, G.4    Fenzi, G.5    Avvedimento, V.E.6
  • 52
    • 0028618372 scopus 로고
    • A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    • Puffenberger EG, Hosoda K, Washington SS, Nakao K, DeWit D, et al. 1994. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79:1257-66
    • (1994) Cell , vol.79 , pp. 1257-1266
    • Puffenberger, E.G.1    Hosoda, K.2    Washington, S.S.3    Nakao, K.4    DeWit, D.5
  • 54
    • 0027413475 scopus 로고
    • Pigmentation phenotypes of variant extension locus alleles result from point mutations which alter MSH receptor function
    • Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, et al. 1993. Pigmentation phenotypes of variant extension locus alleles result from point mutations which alter MSH receptor function. Cell 72:827-34
    • (1993) Cell , vol.72 , pp. 827-834
    • Robbins, L.S.1    Nadeau, J.H.2    Johnson, K.R.3    Kelly, M.A.4    Roselli-Rehfuss, L.5
  • 55
    • 9244219743 scopus 로고
    • A newly recognized variant of familial nephrogenic diabetes insipidus distinguished by partial resistance to vasopressin (type 2)
    • Abstr.
    • Robertson GL, Scheidler JA. 1981. A newly recognized variant of familial nephrogenic diabetes insipidus distinguished by partial resistance to vasopressin (type 2). Clin. Res. 29:555A (Abstr.)
    • (1981) Clin. Res. , vol.29
    • Robertson, G.L.1    Scheidler, J.A.2
  • 56
    • 0026878962 scopus 로고
    • A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa
    • Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. 1992. A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat. Genet. 1:209-13
    • (1992) Nat. Genet. , vol.1 , pp. 209-213
    • Rosenfeld, P.J.1    Cowley, G.S.2    McGee, T.L.3    Sandberg, M.A.4    Berson, E.L.5    Dryja, T.P.6
  • 59
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse K, Juppner H. 1995. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268: 98-100
    • (1995) Science , vol.268 , pp. 98-100
    • Schipani, E.1    Kruse, K.2    Juppner, H.3
  • 60
    • 0029041620 scopus 로고
    • Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human PTH/PTHrP receptor gene
    • Schipani E, Weinstein LS, Bergwitz C, Lida-Klein A, Kong XF, et al. 1995. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human PTH/PTHrP receptor gene. J. Clin. Endocrinol. Metab. 80:1611-21
    • (1995) J. Clin. Endocrinol. Metab. , vol.80 , pp. 1611-1621
    • Schipani, E.1    Weinstein, L.S.2    Bergwitz, C.3    Lida-Klein, A.4    Kong, X.F.5
  • 61
    • 0028172104 scopus 로고
    • sα mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase
    • sα mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. J. Biol. Chem. 269:25387-91
    • (1994) J. Biol. Chem. , vol.269 , pp. 25387-25391
    • Schwindinger, W.F.1    Miric, A.2    Zimmerman, D.3    Levine, M.A.4
  • 63
    • 0029093559 scopus 로고
    • G protein-coupled receptor structure and function: The impact of disease-causing mutations
    • In press
    • Shenker A. 1995. G protein-coupled receptor structure and function: the impact of disease-causing mutations. Baillière's Clin. Endocrinol. Metab. In press
    • (1995) Baillière's Clin. Endocrinol. Metab.
    • Shenker, A.1
  • 64
    • 0027372340 scopus 로고
    • A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
    • Shenker A, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB Jr. 1993. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365:652-54
    • (1993) Nature , vol.365 , pp. 652-654
    • Shenker, A.1    Laue, L.2    Kosugi, S.3    Merendino Jr., J.J.4    Minegishi, T.5    Cutler Jr., G.B.6
  • 69
    • 0027325610 scopus 로고
    • Abnormalities in G protein-coupled signal transduction pathways in human disease
    • Spiegel AM, Weinstein LS, Shenker A. 1993. Abnormalities in G protein-coupled signal transduction pathways in human disease. J. Clin. Invest. 92:1119-25
    • (1993) J. Clin. Invest. , vol.92 , pp. 1119-1125
    • Spiegel, A.M.1    Weinstein, L.S.2    Shenker, A.3
  • 70
    • 0028127807 scopus 로고
    • Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse
    • Stein SA, Oates EL, Hall CR, Grumbles RM, Fernandez LM, et al. 1994. Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. Mol. Endocrinol. 8: 129-38
    • (1994) Mol. Endocrinol. , vol.8 , pp. 129-138
    • Stein, S.A.1    Oates, E.L.2    Hall, C.R.3    Grumbles, R.M.4    Fernandez, L.M.5
  • 72
    • 0028956193 scopus 로고
    • Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism
    • Suarez F, Lebrun JJ, Lecossier D, Escoubet B, Coureau C, Silve C. 1995. Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism. J. Clin. Endocrinol. Metab. 80:965-70
    • (1995) J. Clin. Endocrinol. Metab. , vol.80 , pp. 965-970
    • Suarez, F.1    Lebrun, J.J.2    Lecossier, D.3    Escoubet, B.4    Coureau, C.5    Silve, C.6
  • 74
    • 0027452148 scopus 로고
    • Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: Clustering of functional classes along the polypeptide chain
    • Sung C-H, Davenport CM, Nathans J. 1993. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain. J. Biol. Chem. 268:26645-49
    • (1993) J. Biol. Chem. , vol.268 , pp. 26645-26649
    • Sung, C.-H.1    Davenport, C.M.2    Nathans, J.3
  • 76
    • 0027423948 scopus 로고
    • Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
    • Tsigos C, Arai K, Hung W, Chrousos GP. 1993. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J. Clin. Invest. 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
  • 80
    • 0028059907 scopus 로고
    • Differential expression of guanosine triphosphate binding proteins in men at high and low risk for the future development of alcoholism
    • Wand GS, Waltman C, Martin CS, McCaul ME, Levine MA, Wolfgang D. 1994. Differential expression of guanosine triphosphate binding proteins in men at high and low risk for the future development of alcoholism. J. Clin. Invest. 94:1004-11
    • (1994) J. Clin. Invest. , vol.94 , pp. 1004-1011
    • Wand, G.S.1    Waltman, C.2    Martin, C.S.3    McCaul, M.E.4    Levine, M.A.5    Wolfgang, D.6
  • 81
    • 0028948985 scopus 로고
    • Lack of an association between a polymorphism in the coding region of the thyrotropin receptor gene and Graves' disease
    • Watson PF, French A, Pickerill AP, McIntosh RS, Weetman AP. 1995. Lack of an association between a polymorphism in the coding region of the thyrotropin receptor gene and Graves' disease. J. Clin. Endocrinol. Metab. 80: 1032-35
    • (1995) J. Clin. Endocrinol. Metab. , vol.80 , pp. 1032-1035
    • Watson, P.F.1    French, A.2    Pickerill, A.P.3    McIntosh, R.S.4    Weetman, A.P.5
  • 82
    • 0028815022 scopus 로고
    • Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families
    • Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, et al. 1995. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J. Clin. Endocrinol. Metab. 80:65-71
    • (1995) J. Clin. Endocrinol. Metab. , vol.80 , pp. 65-71
    • Weber, A.1    Toppari, J.2    Harvey, R.D.3    Klann, R.C.4    Shaw, N.J.5
  • 87
    • 0028586045 scopus 로고
    • A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases
    • Yano K, Hidaka A, Saji M, Polymeropoulos MH, Okuno A, et al. 1994. A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J. Clin. Endocrinol. Metab. 79:1818-23
    • (1994) J. Clin. Endocrinol. Metab. , vol.79 , pp. 1818-1823
    • Yano, K.1    Hidaka, A.2    Saji, M.3    Polymeropoulos, M.H.4    Okuno, A.5
  • 88
    • 0028897982 scopus 로고
    • A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty
    • In press
    • Yano K, Saji M, Hidaka A, Moriya N, Okuno A, et al. 1995. A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. J. Clin. Endocrinol. Metab. In press
    • (1995) J. Clin. Endocrinol. Metab.
    • Yano, K.1    Saji, M.2    Hidaka, A.3    Moriya, N.4    Okuno, A.5
  • 89
    • 0022536710 scopus 로고
    • Isolation and characterization of a new cellular oncogene encoding a protein with multiple potential transmembrane domains
    • Young D, Waitches G, Birchmeier C, Fasano O, Wigler M. 1986. Isolation and characterization of a new cellular oncogene encoding a protein with multiple potential transmembrane domains. Cell 45:711-19
    • (1986) Cell , vol.45 , pp. 711-719
    • Young, D.1    Waitches, G.2    Birchmeier, C.3    Fasano, O.4    Wigler, M.5


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