메뉴 건너뛰기




Volumn 88, Issue 428, 1999, Pages 174-178

Signal transduction defects in growth hormone insensitivity

Author keywords

Growth hormone insensitivity; Growth hormone receptor; Laron syndrome; Mitogen activated protein kinase; Signal transducers and activators of transcription

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE;

EID: 0033017783     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (27)

References (18)
  • 1
    • 0013890168 scopus 로고
    • Genetic pituitary dwarfism with high serum concentration of growth hormone: A new inborn error of metabolism?
    • Laron Z, Pertzelan A, Mannheimer S. Genetic pituitary dwarfism with high serum concentration of growth hormone: a new inborn error of metabolism? Isr J Med Sci 1966;2:152-5
    • (1966) Isr J Med Sci , vol.2 , pp. 152-155
    • Laron, Z.1    Pertzelan, A.2    Mannheimer, S.3
  • 2
    • 0021349498 scopus 로고
    • Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism
    • Eshet R, Laron Z, Pertzelan A, Arnon R, Dintzman M. Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism. Isr J Med Sci 1984;20:8-11
    • (1984) Isr J Med Sci , vol.20 , pp. 8-11
    • Eshet, R.1    Laron, Z.2    Pertzelan, A.3    Arnon, R.4    Dintzman, M.5
  • 6
    • 0028294901 scopus 로고
    • A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerisation
    • Duquesnoy P, Sobrier M-L, Duriez B, Dastot F, Buchanan CR, Savage MO, et al. A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerisation. EMBO J 1994;13:1386-95
    • (1994) EMBO J , vol.13 , pp. 1386-1395
    • Duquesnoy, P.1    Sobrier, M.-L.2    Duriez, B.3    Dastot, F.4    Buchanan, C.R.5    Savage, M.O.6
  • 7
    • 0031877283 scopus 로고    scopus 로고
    • The D152H mutation found in growth hormone insensitivity syndrome impairs expression and function of human growth hormone receptor but is silent in rat receptors
    • Esposito N, Wojcik J, Chomilier J, Martini JF, Kelly PA, Finidori J, et al. The D152H mutation found in growth hormone insensitivity syndrome impairs expression and function of human growth hormone receptor but is silent in rat receptors. J Mol Endocrinol 1998;21(1):61-72
    • (1998) J Mol Endocrinol , vol.21 , Issue.1 , pp. 61-72
    • Esposito, N.1    Wojcik, J.2    Chomilier, J.3    Martini, J.F.4    Kelly, P.A.5    Finidori, J.6
  • 8
    • 0029879642 scopus 로고    scopus 로고
    • A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein
    • Woods KA, Fraser NC, Postel-Vinay M-C, Savage MO, Clark AJL. A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab 1996;81:1686-90
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1686-1690
    • Woods, K.A.1    Fraser, N.C.2    Postel-Vinay, M.-C.3    Savage, M.O.4    Clark, A.J.L.5
  • 9
    • 0030918549 scopus 로고    scopus 로고
    • Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: Extended phenotypic study in a very large pedigree
    • Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, et al. Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree. J Pediatr Endocrinol Metab 1997;10:265-74
    • (1997) J Pediatr Endocrinol Metab , vol.10 , pp. 265-274
    • Silbergeld, A.1    Dastot, F.2    Klinger, B.3    Kanety, H.4    Eshet, R.5    Amselem, S.6
  • 10
    • 0031133077 scopus 로고    scopus 로고
    • A dominant-negative mutation of the growth hormone receptor causes familial short stature
    • Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, et al. A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 1997;16:13-14
    • (1997) Nat Genet , vol.16 , pp. 13-14
    • Ayling, R.M.1    Ross, R.2    Towner, P.3    Von Laue, S.4    Finidori, J.5    Moutoussamy, S.6
  • 11
    • 0031044017 scopus 로고    scopus 로고
    • A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein
    • Ross RJM, Esposito N, Shen XY, Von Laue S, Chew SL, Dobson PRM, et al. A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein. Mol Endocrinol 1997;11:265-73
    • (1997) Mol Endocrinol , vol.11 , pp. 265-273
    • Ross, R.J.M.1    Esposito, N.2    Shen, X.Y.3    Von Laue, S.4    Chew, S.L.5    Dobson, P.R.M.6
  • 12
    • 0031732473 scopus 로고    scopus 로고
    • Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain
    • Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, et al. Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab 1998;83:531-7
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 531-537
    • Iida, K.1    Takahashi, Y.2    Kaji, H.3    Nose, O.4    Okimura, Y.5    Abe, H.6
  • 14
    • 0031014897 scopus 로고    scopus 로고
    • Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome
    • Freeth JS, Ayling RM, Whatmore AJ, Towner P, Price DA, Norman MR, et al. Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome. Endocrinology 1997;138:55-61
    • (1997) Endocrinology , vol.138 , pp. 55-61
    • Freeth, J.S.1    Ayling, R.M.2    Whatmore, A.J.3    Towner, P.4    Price, D.A.5    Norman, M.R.6
  • 15
    • 85011454547 scopus 로고    scopus 로고
    • Activation of the signal transducers and activators of transcription signalling pathway by growth hormone (GH) in skin fibroblasts from normal, and GH binding protein-positive Laron syndrome children
    • Freeth JS, Silva CM, Whatmore AJ, Clayton PE. Activation of the signal transducers and activators of transcription signalling pathway by growth hormone (GH) in skin fibroblasts from normal, and GH binding protein-positive Laron syndrome children. Endocrinology 1998;139:20-8
    • (1998) Endocrinology , vol.139 , pp. 20-28
    • Freeth, J.S.1    Silva, C.M.2    Whatmore, A.J.3    Clayton, P.E.4
  • 16
    • 0031764773 scopus 로고    scopus 로고
    • Growth hormone stimulation of the MAP kinase pathway is cell type specific
    • Love DW, Whatmore AJ, Clayton PE, Silva CM. Growth hormone stimulation of the MAP kinase pathway is cell type specific. Endocrinology 1998;139:1965-71
    • (1998) Endocrinology , vol.139 , pp. 1965-1971
    • Love, D.W.1    Whatmore, A.J.2    Clayton, P.E.3    Silva, C.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.