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Volumn 97, Issue 1, 1996, Pages 73-75

Pseudohypoparathyroidism type la: Two new heterozygous frameshift mutations in exons 5 and 10 of the Gsα gene

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GUANINE NUCLEOTIDE BINDING PROTEIN;

EID: 0030026060     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (44)

References (18)
  • 1
    • 0027318238 scopus 로고
    • Structural elements of Gα subunits that interact with Gβγ. receptors and effectors
    • Conklin BR, Bourne HR (1993) Structural elements of Gα subunits that interact with Gβγ. receptors and effectors. Cell 73: 631-641
    • (1993) Cell , vol.73 , pp. 631-641
    • Conklin, B.R.1    Bourne, H.R.2
  • 6
    • 0027956207 scopus 로고
    • Rapid GDP release from Gsα in patients with gain and loss of endocrine function
    • Iiri T, Herzmark P, Nakamoto JM, Van-Dop C, Bourne HR (1994) Rapid GDP release from Gsα in patients with gain and loss of endocrine function. Nature 371: 164-168
    • (1994) Nature , vol.371 , pp. 164-168
    • Iiri, T.1    Herzmark, P.2    Nakamoto, J.M.3    Van-Dop, C.4    Bourne, H.R.5
  • 8
    • 0008883078 scopus 로고
    • Pseudohypoparathyroidism
    • DeGroot LJ, Besser GM, Burger HG et al. (eds) Saunders. Philadelphia
    • Levine MA, Spiegel AM (1993) Pseudohypoparathyroidism. In: DeGroot LJ, Besser GM, Burger HG et al. (eds) Endocrinology, 3rd edn. Saunders. Philadelphia, pp 1136-1150
    • (1993) Endocrinology, 3rd Edn. , pp. 1136-1150
    • Levine, M.A.1    Spiegel, A.M.2
  • 9
    • 0019309715 scopus 로고
    • Deficient activity of the guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
    • Levine MA, Downs RW, Singer MJ, Marx SJ, Aurbach GD, Spiegel AM (1980) Deficient activity of the 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, R.W.2    Singer, M.J.3    Marx, S.J.4    Aurbach, G.D.5    Spiegel, A.M.6
  • 10
    • 0027210606 scopus 로고
    • Heterogenous mutations in the gene encoding the α subunit of the stimulatory G protein of adenylyl cyclase in Albright Hereditary Osteodystrophy
    • Miric A, Vechio JD, Levine MA (1993) Heterogenous mutations in the gene encoding the α subunit of the stimulatory G protein of adenylyl cyclase in Albright Hereditary Osteodystrophy. J Clin Endocrinol Metab 76: 1560-1568
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 1560-1568
    • Miric, A.1    Vechio, J.D.2    Levine, M.A.3
  • 11
    • 0028151754 scopus 로고
    • Characterization of a de novo 43-bp deletion of the Gsα gene (GNAS 1) in Albright hereditary Osteodystrophy
    • Oude Luttikhuis MEM, Wilson LC, Leonard JV, Trembath RC (1994) Characterization of a de novo 43-bp deletion of the Gsα gene (GNAS 1) in Albright hereditary Osteodystrophy. Genomics 21: 455-457
    • (1994) Genomics , vol.21 , pp. 455-457
    • Oude Luttikhuis, M.E.M.1    Wilson, L.C.2    Leonard, J.V.3    Trembath, R.C.4
  • 12
    • 0025173391 scopus 로고
    • Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy
    • Patten JL, Levine MA (1990) Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 71: 1208-1214
    • (1990) J Clin Endocrinol Metab , vol.71 , pp. 1208-1214
    • Patten, J.L.1    Levine, M.A.2
  • 13
  • 14
    • 0018945589 scopus 로고
    • Multiple abnormalities of anterior pituitary hormone secretion in association with pseudohypoparathyroidism
    • Shapiro MS, Bernheim J, Gutman A, Arber I, Spitz IM (1980) Multiple abnormalities of anterior pituitary hormone secretion in association with pseudohypoparathyroidism. J Clin Endocrinol Metab 51: 483-487
    • (1980) J Clin Endocrinol Metab , vol.51 , pp. 483-487
    • Shapiro, M.S.1    Bernheim, J.2    Gutman, A.3    Arber, I.4    Spitz, I.M.5
  • 15
    • 0027489301 scopus 로고
    • G protein mutations in human disease
    • Weinstein LS, Shenker A (1993) G protein mutations in human disease. Clin Biochem 26: 333-338
    • (1993) Clin Biochem , vol.26 , pp. 333-338
    • Weinstein, L.S.1    Shenker, A.2
  • 17
    • 0026672057 scopus 로고
    • A heterozygous 4-bp deletion mutation in the Gsa gene (GNAS1) in a patient with Albright Hereditary Osteodystrophy
    • Weinstein LS, Gejman PV, Mazancorte P de, American N, Spiegel AM (1992) A heterozygous 4-bp deletion mutation in the Gsa gene (GNAS1) in a patient with Albright Hereditary Osteodystrophy. Genomics 13: 1319-1321
    • (1992) Genomics , vol.13 , pp. 1319-1321
    • Weinstein, L.S.1    Gejman, P.V.2    De Mazancorte, P.3    American, N.4    Spiegel, A.M.5
  • 18
    • 0021927650 scopus 로고
    • Pseudohypoparathyroidism type Ia presenting as congenital hypothyroidism
    • Weisman Y, Golander A, Spirer Z, Farfel Z (1985) Pseudohypoparathyroidism type Ia presenting as congenital hypothyroidism. J Pediatr 107: 413-415
    • (1985) J Pediatr , vol.107 , pp. 413-415
    • Weisman, Y.1    Golander, A.2    Spirer, Z.3    Farfel, Z.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.