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Volumn 83, Issue 3, 1998, Pages 935-938

An inherited mutation associated with functional deficiency of the α- subunit of the guanine nucleotide-binding protein G(s) in pseudo- and pseudopseudohypoparathyroidism

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; PARATHYROID HORMONE; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; THYROTROPIN;

EID: 0031764968     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.3.935     Document Type: Article
Times cited : (52)

References (23)
  • 1
    • 0000821313 scopus 로고
    • Pseudohypoparathyroidism-an example of "Seabright-Bantam syndrome"
    • Albright F, Burnett CH, Smith PH, Parson W. 1942 Pseudohypoparathyroidism-an example of "Seabright-Bantam syndrome." Endocrinology. 30:922-932.
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3    Parson, W.4
  • 2
    • 0019746351 scopus 로고
    • Dissociation of parathyroid hormone bioactivity and immunoreactivity in pseudohypoparathyroidism type I
    • Nagant de Deuxchaisnes C, Fischer JA, Dambacher MA, et al. 1981 Dissociation of parathyroid hormone bioactivity and immunoreactivity in pseudohypoparathyroidism type I. J Clin Endocrinol Metab. 53:1105-1109.
    • (1981) J Clin Endocrinol Metab , vol.53 , pp. 1105-1109
    • Nagant De Deuxchaisnes, C.1    Fischer, J.A.2    Dambacher, M.A.3
  • 3
    • 0016632585 scopus 로고
    • Excessive thyrotropin response to thyrotropin-releasing hormone in pseudohypoparathyroidism
    • Werder E, Illig R, Bernasconi S, et al. 1975 Excessive thyrotropin response to thyrotropin-releasing hormone in pseudohypoparathyroidism. Pediatr Res. 9:12-16.
    • (1975) Pediatr Res , vol.9 , pp. 12-16
    • Werder, E.1    Illig, R.2    Bernasconi, S.3
  • 4
    • 0014593627 scopus 로고
    • Pseudohypoparyathyroidism: Defective excretion of 3′,5′-AMP in response to parathyroid hormone
    • Chase LR, Melson GL, Aurbach GD. 1969 Pseudohypoparyathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone. J Clin Invest. 48:1832-1844.
    • (1969) J Clin Invest , vol.48 , pp. 1832-1844
    • Chase, L.R.1    Melson, G.L.2    Aurbach, G.D.3
  • 5
    • 0018144675 scopus 로고
    • Pseudohypoparathyroidism and idiopathic hypoparathyroidism: Relationship between serum calcium and parathyroid hormone levels and urinary cyclic adenosine-3′,5′-monophosphate response to parathyroid extract
    • Werder EA, Fischer JA, Illig R, et al. 1978 Pseudohypoparathyroidism and idiopathic hypoparathyroidism: relationship between serum calcium and parathyroid hormone levels and urinary cyclic adenosine-3′,5′-monophosphate response to parathyroid extract. J Clin Endocrinol Metab. 46:872-879.
    • (1978) J Clin Endocrinol Metab , vol.46 , pp. 872-879
    • Werder, E.A.1    Fischer, J.A.2    Illig, R.3
  • 7
    • 0019309715 scopus 로고
    • Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
    • Levine MA, Downs Jr RW, Singer M, Marx SJ, Aurbach GD, Spiegel AM. 1980 Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun. 94:1319-1324.
    • (1980) Biochem Biophys Res Commun , vol.94 , pp. 1319-1324
    • Levine, M.A.1    Downs Jr., R.W.2    Singer, M.3    Marx, S.J.4    Aurbach, G.D.5    Spiegel, A.M.6
  • 8
    • 0021078028 scopus 로고
    • Pseudohypoparathyroidism: Inheritance and expression of deficient receptor-cyclase coupling protein activity
    • Oxf
    • Fischer FA, Boume HR, Dambacher MA, et al. 1983 Pseudohypoparathyroidism: inheritance and expression of deficient receptor-cyclase coupling protein activity. Clin Endocrinol (Oxf). 19:747-754.
    • (1983) Clin Endocrinol , vol.19 , pp. 747-754
    • Fischer, F.A.1    Boume, H.R.2    Dambacher, M.A.3
  • 9
    • 0022655674 scopus 로고
    • Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: Biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds
    • Levine MA, Jap T-S, Mauseth RS, Downs RW, Spiegel AM. 1986 Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab. 62:497-502.
    • (1986) J Clin Endocrinol Metab , vol.62 , pp. 497-502
    • Levine, M.A.1    Jap, T.-S.2    Mauseth, R.S.3    Downs, R.W.4    Spiegel, A.M.5
  • 10
    • 0022456433 scopus 로고
    • Stimulatory guanine nucleotide binding protein acitivity in the erythrocyte membrane of patients with pseudohypoparathyroidism type I and related disorders
    • Copenh
    • Saito T, Akita Y, Fujita H, et al. 1986 Stimulatory guanine nucleotide binding protein acitivity in the erythrocyte membrane of patients with pseudohypoparathyroidism type I and related disorders. Acta Endocrinol (Copenh). 111:507-515.
    • (1986) Acta Endocrinol , vol.111 , pp. 507-515
    • Saito, T.1    Akita, Y.2    Fujita, H.3
  • 12
    • 0025323257 scopus 로고
    • 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. 1990 Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med. 322:1412-1419.
    • (1990) N Engl J Med , vol.322 , pp. 1412-1419
    • Patten, J.L.1    Johns, D.R.2    Valle, D.3
  • 13
    • 0025195106 scopus 로고
    • s α-subunit gene in Albright heredidatry osteodystrophy detected by denaturing gradient gel electrophoresis
    • s α-subunit gene in Albright heredidatry osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA. 87:8287-8290.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 8287-8290
    • Weinstein, L.S.1    Gejman, P.V.2    Friedman, E.3
  • 16
    • 0002919409 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism
    • Bilezikian JP, Raisz LG, Rodan GA, eds. San Diego: Academic Press
    • Levine MA. 1996 Pseudohypoparathyroidism. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. San Diego: Academic Press; 853-876.
    • (1996) Principles of Bone Biology , pp. 853-876
    • Levine, M.A.1
  • 17
  • 18
    • 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. 80:965-970.
    • (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
  • 19
    • 0029041620 scopus 로고
    • Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene
    • Schipani E, Weinstein LS, Bergwitz C, et al. 1995 Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab. 80:1611-1621.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1611-1621
    • Schipani, E.1    Weinstein, L.S.2    Bergwitz, C.3
  • 20
    • 0029906319 scopus 로고    scopus 로고
    • Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib
    • Fukumoto S, Suzawa M, Takeuchi Y, et al. 1996 Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 81:2554-2558.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 2554-2558
    • Fukumoto, S.1    Suzawa, M.2    Takeuchi, Y.3
  • 22
    • 0020460090 scopus 로고
    • Inhibition of cytochemical bioactivity of parathyroid hormone by plasma in pseudohypoparathyroidism type I
    • Loveridge N, Fischer JA, Nagant de Deuxchaisnes C, et al. 1982 Inhibition of cytochemical bioactivity of parathyroid hormone by plasma in pseudohypoparathyroidism type I. J Clin Endocrinol Metab. 54:1274-1275.
    • (1982) J Clin Endocrinol Metab , vol.54 , pp. 1274-1275
    • Loveridge, N.1    Fischer, J.A.2    Nagant De Deuxchaisnes, C.3
  • 23
    • 0003032806 scopus 로고
    • Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa
    • Kolb FO, Steinbach HL. 1962 Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa. J Clin Endocrinol Metab. 22:59-64.
    • (1962) J Clin Endocrinol Metab , vol.22 , pp. 59-64
    • Kolb, F.O.1    Steinbach, H.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.