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Volumn 60, Issue 1, 2004, Pages 36-40

The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: Supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration

Author keywords

[No Author keywords available]

Indexed keywords

ANDRACTIN; ANDROSTANOLONE; ESTRADIOL; GONADORELIN; GONADORELIN AGONIST; GROWTH HORMONE RECEPTOR; SEX HORMONE;

EID: 0842265985     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2004.01930.x     Document Type: Article
Times cited : (19)

References (19)
  • 3
    • 0028411031 scopus 로고
    • Improvement of diagnostic criteria in growth hormone insensitivity syndrome: Solutions and pitfalls. Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes
    • Slum, W.F., Cotterill, A.M., Postel-Vinay, M.C., Ranke, M.B., Savage, M.O. & Wilton, P. (1994) Improvement of diagnostic criteria in growth hormone insensitivity syndrome: solutions and pitfalls. Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes. Acta Paediatrica Supplement, 399, 117-124.
    • (1994) Acta Paediatrica Supplement , vol.399 , pp. 117-124
    • Slum, W.F.1    Cotterill, A.M.2    Postel-Vinay, M.C.3    Ranke, M.B.4    Savage, M.O.5    Wilton, P.6
  • 5
    • 0027220016 scopus 로고
    • A naturally occurring growth hormone receptor mutation: In vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily
    • Duriez, B., Sobrier, M.L., Duquesnoy, P., Tixier-Boichard, M., Decuypere, E., Coquerelle, G., Zeman, M., Goossens, M. & Amselem, S. (1993) A naturally occurring growth hormone receptor mutation: in vivo and in vitro evidence for the functional importance of the WS motif common to all members of the cytokine receptor superfamily. Molecular Endocrinology, 7, 806-814.
    • (1993) Molecular Endocrinology , vol.7 , pp. 806-814
    • Duriez, B.1    Sobrier, M.L.2    Duquesnoy, P.3    Tixier-Boichard, M.4    Decuypere, E.5    Coquerelle, G.6    Zeman, M.7    Goossens, M.8    Amselem, S.9
  • 6
    • 0031717780 scopus 로고    scopus 로고
    • Alternative processing of growth hormone receptor transcripts
    • Edens, A. & Talamantes, F. (1998) Alternative processing of growth hormone receptor transcripts. Endocr Review, 19, 559-582.
    • (1998) Endocr Review , vol.19 , pp. 559-582
    • Edens, A.1    Talamantes, F.2
  • 9
    • 0032719388 scopus 로고    scopus 로고
    • Growth hormone resistance: Clinical states and animal models
    • Hull, K.L. & Harvey, S. (1999) Growth hormone resistance: clinical states and animal models. Journal of Endocrinology, 163, 165-172.
    • (1999) Journal of Endocrinology , vol.163 , pp. 165-172
    • Hull, K.L.1    Harvey, S.2
  • 11
    • 0033001026 scopus 로고    scopus 로고
    • Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome)
    • Laron, Z. (1999) Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome) Journal of Pediatric Endocrinology and Metabolism, 12 (Suppl. 1), 231-249.
    • (1999) Journal of Pediatric Endocrinology and Metabolism , vol.12 , Issue.1 SUPPL. , pp. 231-249
    • Laron, Z.1
  • 13
    • 0034705518 scopus 로고    scopus 로고
    • Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution
    • Pantel, J., Machinis, K., Sobrier, M.L., Duquesnoy, P., Goossens, M. & Amselem, S. (2000) Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. Journal of Biological Chemistry, 275, 18664-18669.
    • (2000) Journal of Biological Chemistry , vol.275 , pp. 18664-18669
    • Pantel, J.1    Machinis, K.2    Sobrier, M.L.3    Duquesnoy, P.4    Goossens, M.5    Amselem, S.6
  • 14
    • 0025222960 scopus 로고
    • The little women of Loja: Growth hormone-receptor deficiency in an inbred population of southern Ecuador
    • Rosenbloom, A.L., Guevara Aguirre, J., Rosenfeld, R.G. & Fielder, P.J. (1990) The little women of Loja: growth hormone-receptor deficiency in an inbred population of southern Ecuador. New England Journal of Medicine, 323, 1367-1374.
    • (1990) New England Journal of Medicine , vol.323 , pp. 1367-1374
    • Rosenbloom, A.L.1    Guevara Aguirre, J.2    Rosenfeld, R.G.3    Fielder, P.J.4
  • 15
    • 0031787447 scopus 로고    scopus 로고
    • Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives
    • Rosenbloom, A.L., Guevara-Aguirre, J., Berg, M.A. & Francke, U. (1998) Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives. Journal of Clinical Endocrinology and Metabolism, 83, 2373-2375.
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , pp. 2373-2375
    • Rosenbloom, A.L.1    Guevara-Aguirre, J.2    Berg, M.A.3    Francke, U.4
  • 16
    • 0032454099 scopus 로고    scopus 로고
    • Heterozygous mutation in the WSXWS equivalaent motif of the growth hormone receptor in a child with poor response to growth hormone therapy
    • Tauber, M.T., Porra, V., Dastot, F., Molinas, C., Amselem, S., Cholin, S., Rochiccioli, P. & Bieth, E. (1998) Heterozygous mutation in the WSXWS equivalaent motif of the growth hormone receptor in a child with poor response to growth hormone therapy. Growth Hormone and IGF Research, 8, 211-216.
    • (1998) Growth Hormone and IGF Research , vol.8 , pp. 211-216
    • Tauber, M.T.1    Porra, V.2    Dastot, F.3    Molinas, C.4    Amselem, S.5    Cholin, S.6    Rochiccioli, P.7    Bieth, E.8
  • 18
    • 0033015191 scopus 로고    scopus 로고
    • Relationship between phenotype and genotype in growth hormone insensitivity syndrome
    • Woods, K.A., Clark, A.J., Amselem, S. & Savage, M.O. (1999) Relationship between phenotype and genotype in growth hormone insensitivity syndrome. Acta Paediatrica Supplement, 88, 158-162; discussion 163.
    • (1999) Acta Paediatrica Supplement , vol.88 , pp. 158-162
    • Woods, K.A.1    Clark, A.J.2    Amselem, S.3    Savage, M.O.4
  • 19
    • 0026643982 scopus 로고
    • Mutations in the Trp-Ser-X-Trp-Ser motif of the erythropoietin receptor abolish processing, ligand binding, and activation of the receptor
    • Yoshimura, A., Zimmers, T., Neumann, D., Longmore, G., Yoshimura, Y. & Lodish, H.F. (1992) Mutations in the Trp-Ser-X-Trp-Ser motif of the erythropoietin receptor abolish processing, ligand binding, and activation of the receptor. Journal of Biological Chemistry, 267, 11619-11625.
    • (1992) Journal of Biological Chemistry , vol.267 , pp. 11619-11625
    • Yoshimura, A.1    Zimmers, T.2    Neumann, D.3    Longmore, G.4    Yoshimura, Y.5    Lodish, H.F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.