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Volumn 58, Issue 1, 1996, Pages 18-24

Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G(α)s gene

Author keywords

[No Author keywords available]

Indexed keywords

ALBRIGHT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; GENE MUTATION; HORMONE RESISTANCE; HUMAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PSEUDOHYPOPARATHYROIDISM; TISSUE SPECIFICITY;

EID: 0030175827     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0027     Document Type: Article
Times cited : (30)

References (28)
  • 3
    • 0026694168 scopus 로고
    • Identification of a mutation in the gene encoding the alpha subunit of the stimulatory g protein of adenylyl cyclase in McCune-Albright syndrome
    • 3. Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89:5152-5156, 1992.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5152-5156
    • Schwindinger, W.F.1    Francomano, C.A.2    Levine, M.A.3
  • 4
    • 0024854388 scopus 로고
    • s alpha designed to alter the reactivity of the protein with bacterial toxins. Substitutions at Arg187 result in loss of GTPase activity
    • s alpha designed to alter the reactivity of the protein with bacterial toxins. Substitutions at Arg187 result in loss of GTPase activity. J Biol Chem 264:21907-21914, 1989.
    • (1989) J Biol Chem , vol.264 , pp. 21907-21914
    • Freissmuth, M.1    Gilman, A.G.2
  • 5
    • 0020525078 scopus 로고
    • A convenient method for measuring receptor-cyclase coupling activity in whole blood: Application to Duchenne muscular dystrophy
    • 5. Bourne HR, Steinberg F, Golbus MS, Farfel Z. A convenient method for measuring receptor-cyclase coupling activity in whole blood: application to Duchenne muscular dystrophy. Am J Med Genet 15:469-474, 1983.
    • (1983) Am J Med Genet , vol.15 , pp. 469-474
    • Bourne, H.R.1    Steinberg, F.2    Golbus, M.S.3    Farfel, Z.4
  • 7
    • 0000023099 scopus 로고
    • Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
    • 7. Sheffield VC, Cox DR, Lerman LS, Myers RM. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86:232-236, 1989.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 232-236
    • Sheffield, V.C.1    Cox, D.R.2    Lerman, L.S.3    Myers, R.M.4
  • 8
    • 0025354748 scopus 로고
    • Optimal conditions for directly sequencing double-stranded PCR products with sequenase
    • 8. Casanova J-L, Pannetier C, Jaulin C, Kourilsky P. Optimal conditions for directly sequencing double-stranded PCR products with Sequenase. Nucleic Acids Res 18:4028, 1990.
    • (1990) Nucleic Acids Res , vol.18 , pp. 4028
    • Casanova, J.-L.1    Pannetier, C.2    Jaulin, C.3    Kourilsky, P.4
  • 9
    • 0018639079 scopus 로고
    • Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
    • 9. Chirgwin JJ, Przybyla AE, Macdonald RJ, Rutter WJ. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299, 1979.
    • (1979) Biochemistry , vol.18 , pp. 5294-5299
    • Chirgwin, J.J.1    Przybyla, A.E.2    Macdonald, R.J.3    Rutter, W.J.4
  • 10
    • 0026672057 scopus 로고
    • A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy
    • 10. Weinstein LS, Gejman PV, de Mazancourt P, American N, Spiegel AM. A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics 13:1319-1321, 1992.
    • (1992) Genomics , vol.13 , pp. 1319-1321
    • Weinstein, L.S.1    Gejman, P.V.2    De Mazancourt, P.3    American, N.4    Spiegel, A.M.5
  • 11
    • 0028172104 scopus 로고
    • A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase
    • 11. Schwindinger WF, Miric A, Zimmerman D, Levine MA. A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. J Biol Chem 269:25387-25391, 1994.
    • (1994) J Biol Chem , vol.269 , pp. 25387-25391
    • Schwindinger, W.F.1    Miric, A.2    Zimmerman, D.3    Levine, M.A.4
  • 12
    • 0028151754 scopus 로고
    • Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy
    • 12. Luttikhuis ME, Wilson LC, Leonard JV, Trembath RC. Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. Genomics 21:455-457, 1994.
    • (1994) Genomics , vol.21 , pp. 455-457
    • Luttikhuis, M.E.1    Wilson, L.C.2    Leonard, J.V.3    Trembath, R.C.4
  • 13
    • 0027210606 scopus 로고
    • Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy
    • 13. Miric A, Vechio JD, Levine MA. Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 76:1560-1568, 1993.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 1560-1568
    • Miric, A.1    Vechio, J.D.2    Levine, M.A.3
  • 18
    • 0026969324 scopus 로고
    • G-protein oncogenes in acromegaly
    • 18. Spada A, Vallar L. G-protein oncogenes in acromegaly. Horm Res 38:90-93, 1992.
    • (1992) Horm Res , vol.38 , pp. 90-93
    • Spada, A.1    Vallar, L.2
  • 22
    • 0024401750 scopus 로고
    • Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye
    • 22. Van Dop C, Medynski D, Apone L. Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye. Nucleic Acids Res 17:4887, 1989.
    • (1989) Nucleic Acids Res , vol.17 , pp. 4887
    • Van Dop, C.1    Medynski, D.2    Apone, L.3
  • 23
    • 0025910365 scopus 로고
    • Structure and function of signal-transducing GTP-binding proteins
    • 23. Kaziro Y, Itoh H, Kozasa T, Nakafuku M, Satoh T. Structure and function of signal-transducing GTP-binding proteins. Annu Rev Biochem 60:349-400, 1991.
    • (1991) Annu Rev Biochem , vol.60 , pp. 349-400
    • Kaziro, Y.1    Itoh, H.2    Kozasa, T.3    Nakafuku, M.4    Satoh, T.5
  • 24
    • 0024410291 scopus 로고
    • Structural and functional properties of ras proteins
    • 24. Santos E, Nebreda AR. Structural and functional properties of ras proteins. FASEB J 3:2151-2163, 1989.
    • (1989) FASEB J , vol.3 , pp. 2151-2163
    • Santos, E.1    Nebreda, A.R.2
  • 25
    • 0019275340 scopus 로고
    • The nucleotide sequence of tufB and four nearby tRNA structural genes of Escherichia coli
    • 25. An G, Friesen JD. The nucleotide sequence of tufB and four nearby tRNA structural genes of Escherichia coli. Gene 12:33-39, 1980.
    • (1980) Gene , vol.12 , pp. 33-39
    • An, G.1    Friesen, J.D.2
  • 28
    • 0027399429 scopus 로고
    • Imprinting in Albright's hereditary osteodystrophy
    • 28. Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30:101-103, 1993.
    • (1993) J Med Genet , vol.30 , pp. 101-103
    • Davies, S.J.1    Hughes, H.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.