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Volumn 49, Issue SUPPL. 1, 1998, Pages 9-14

Genetic defects in the control of growth hormone secretion

Author keywords

Dwarfism; GH1 gene mutation; Growth hormone deficiency; Growth hormone releasing hormone

Indexed keywords

ARGININE; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; HISTIDINE; HORMONE RECEPTOR;

EID: 0031886593     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000053062     Document Type: Conference Paper
Times cited : (13)

References (30)
  • 1
    • 0014020315 scopus 로고
    • GHD in man: An isolated recessively inherited defect
    • Rimoin DL, Merimee TJ, McKusick VA: GHD in man: An isolated recessively inherited defect. Science 1966;152:1635-1637.
    • (1966) Science , vol.152 , pp. 1635-1637
    • Rimoin, D.L.1    Merimee, T.J.2    McKusick, V.A.3
  • 4
    • 0015310877 scopus 로고
    • Hereditary isolated somatotropin deficiency: Effects of human GH administration
    • Sheikholislam BM, Stempfel RS Jr: Hereditary isolated somatotropin deficiency: Effects of human GH administration. Pediatrics 1972;49: 362-374.
    • (1972) Pediatrics , vol.49 , pp. 362-374
    • Sheikholislam, B.M.1    Stempfel Jr., R.S.2
  • 6
    • 0016162989 scopus 로고
    • Autosomal dominant transmission of isolated GHD in iris-dental dysplasia (Rieger's syndrome)
    • Sadeghi-Nejad A, Senior B: Autosomal dominant transmission of isolated GHD in iris-dental dysplasia (Rieger's syndrome). J Pediatr 1974;85:644-648.
    • (1974) J Pediatr , vol.85 , pp. 644-648
    • Sadeghi-Nejad, A.1    Senior, B.2
  • 7
    • 0023555304 scopus 로고
    • A family case with autosomal-dominantly inherited pituitary dwarfism
    • Tani N, Kaneko K, Momotsu T et al: A family case with autosomal-dominantly inherited pituitary dwarfism. Tohoku J Exp Med 1987; 152:319-324.
    • (1987) Tohoku J Exp Med , vol.152 , pp. 319-324
    • Tani, N.1    Kaneko, K.2    Momotsu, T.3
  • 8
    • 0027982794 scopus 로고
    • Genetic basis of endocrine disease: Molecular basis of familial human growth hormone deficiency
    • Phillips J, Cogan JD: Genetic basis of endocrine disease: Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 1994;78:11-16.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 11-16
    • Phillips, J.1    Cogan, J.D.2
  • 9
    • 0017078016 scopus 로고
    • Inherited ateliotic dwarfism in mice. Characteristics of the mutation, little, on chromosome 6
    • Eicher EM, Beamer WG: Inherited ateliotic dwarfism in mice. Characteristics of the mutation, little, on chromosome 6. J Hered 1976;67: 87-91.
    • (1976) J Hered , vol.67 , pp. 87-91
    • Eicher, E.M.1    Beamer, W.G.2
  • 10
    • 0027762328 scopus 로고
    • The little (lit) mutation cosegregates with the growth hormone releasing factor receptor on mouse chromosome 6
    • Chua SC, Hennessey K, Zeitler P, Leibel RL: The little (lit) mutation cosegregates with the growth hormone releasing factor receptor on mouse chromosome 6. Mamm Genome 1993; 4:555-559.
    • (1993) Mamm Genome , vol.4 , pp. 555-559
    • Chua, S.C.1    Hennessey, K.2    Zeitler, P.3    Leibel, R.L.4
  • 11
    • 0027265595 scopus 로고
    • GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
    • Godfrey P, Rahal JO, Beamer WG, Copeland NG, Jenkins NA, Mayo KE: GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet 1993;4:227-232.
    • (1993) Nat Genet , vol.4 , pp. 227-232
    • Godfrey, P.1    Rahal, J.O.2    Beamer, W.G.3    Copeland, N.G.4    Jenkins, N.A.5    Mayo, K.E.6
  • 12
    • 0027236844 scopus 로고
    • Molecular basis of the little mouse phenotype and implications for cell type-specific growth
    • Lin SC, Lin CR, Gukovsky I, Lusis AJ, Sawchenko PE, Rosenfeld MG: Molecular basis of the little mouse phenotype and implications for cell type-specific growth [see comments]. Nature 1993;364:208-213.
    • (1993) Nature , vol.364 , pp. 208-213
    • Lin, S.C.1    Lin, C.R.2    Gukovsky, I.3    Lusis, A.J.4    Sawchenko, P.E.5    Rosenfeld, M.G.6
  • 13
    • 0028501308 scopus 로고
    • Human growth hormone-releasing hormone receptor maps to a YAC at chromosome 7p15
    • Wajnrajch MP, Chua SC, Green ED, Leibel RL: Human growth hormone-releasing hormone receptor maps to a YAC at chromosome 7p15. Mamm Genome 1994;5:595.
    • (1994) Mamm Genome , vol.5 , pp. 595
    • Wajnrajch, M.P.1    Chua, S.C.2    Green, E.D.3    Leibel, R.L.4
  • 14
    • 0021869126 scopus 로고
    • Effects of a fragment of human growth hormone-releasing factor in normal and 'little' mice
    • Clark RG, Robinson IC: Effects of a fragment of human growth hormone-releasing factor in normal and 'little' mice. J Endocrinol 1985; 106:1-5.
    • (1985) J Endocrinol , vol.106 , pp. 1-5
    • Clark, R.G.1    Robinson, I.C.2
  • 15
    • 0017108119 scopus 로고
    • Stimulation of growth in the little mouse
    • Beamer WG, Eicher EM: Stimulation of growth in the little mouse. J Endocrinol 1976; 71:37-45.
    • (1976) J Endocrinol , vol.71 , pp. 37-45
    • Beamer, W.G.1    Eicher, E.M.2
  • 16
    • 0026803163 scopus 로고
    • Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone
    • Mayo KE: Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone. Mol Endocrinol 1992;6:1734-1744.
    • (1992) Mol Endocrinol , vol.6 , pp. 1734-1744
    • Mayo, K.E.1
  • 17
    • 0026611384 scopus 로고
    • Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations
    • Sarkar G, Yoon HS, Sommer SS: Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations. Genomics 1992; 13:441-443.
    • (1992) Genomics , vol.13 , pp. 441-443
    • Sarkar, G.1    Yoon, H.S.2    Sommer, S.S.3
  • 18
    • 0027499362 scopus 로고
    • Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone
    • Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO: Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. Mol Endocrinol 1993;7:77-84.
    • (1993) Mol Endocrinol , vol.7 , pp. 77-84
    • Gaylinn, B.D.1    Harrison, J.K.2    Zysk, J.R.3    Lyons, C.E.4    Lynch, K.R.5    Thorner, M.O.6
  • 19
    • 0027423948 scopus 로고
    • Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
    • Tsigos C, Arai K, Hung W, Chrousos GP: Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993;92: 2458-2461.
    • (1993) J Clin Invest , vol.92 , pp. 2458-2461
    • Tsigos, C.1    Arai, K.2    Hung, W.3    Chrousos, G.P.4
  • 20
    • 0028038158 scopus 로고
    • Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
    • Bichet DG et al: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 1994;55: 278-286.
    • (1994) Am J Hum Genet , vol.55 , pp. 278-286
    • Bichet, D.G.1
  • 21
    • 0029156762 scopus 로고
    • A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
    • Laue L et al: A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. Hum Mol Genet 1995; 4:1429-1433.
    • (1995) Hum Mol Genet , vol.4 , pp. 1429-1433
    • Laue, L.1
  • 22
    • 2642649937 scopus 로고    scopus 로고
    • Dwarfism of Sindh: A novel form of familial isolated GH deficiency linked to the locus for the GH releasing hormone receptor
    • San Francisco, Calif., June
    • Maheshwari H, Silverman BL, Dupuis J, Baumann G: Dwarfism of Sindh: A novel form of familial isolated GH deficiency linked to the locus for the GH releasing hormone receptor (abstract). Meeting of the International Congress of Endocrinology, San Francisco, Calif., June 1996.
    • (1996) Meeting of the International Congress of Endocrinology
    • Maheshwari, H.1    Silverman, B.L.2    Dupuis, J.3    Baumann, G.4
  • 23
    • 0027140939 scopus 로고
    • GH-releasing activity of growth hormone-releasing peptide-1 (a synthetic heptapeptide) in children and adolescents
    • Copenh
    • Laron Z et al: GH-releasing activity of growth hormone-releasing peptide-1 (a synthetic heptapeptide) in children and adolescents. Acta Endocrinol (Copenh) 1993;129:424-426.
    • (1993) Acta Endocrinol , vol.129 , pp. 424-426
    • Laron, Z.1
  • 24
    • 0027248530 scopus 로고
    • A nonpeptidyl GH secretagogue
    • Smith RG et al: A nonpeptidyl GH secretagogue. Science 1993;260:1640-1643.
    • (1993) Science , vol.260 , pp. 1640-1643
    • Smith, R.G.1
  • 25
    • 0022761775 scopus 로고
    • Growth homone-releasing hormone
    • Frohman LA, Jansson JO: Growth homone-releasing hormone. Endocr Rev 1986;7:223-253.
    • (1986) Endocr Rev , vol.7 , pp. 223-253
    • Frohman, L.A.1    Jansson, J.O.2
  • 26
    • 0027372340 scopus 로고
    • A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
    • Shenker A Jr, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB: A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993;365:652-654.
    • (1993) Nature , vol.365 , pp. 652-654
    • Shenker Jr., A.1    Laue, L.2    Kosugi, S.3    Merendino Jr., J.J.4    Minegishi, T.5    Cutler, G.B.6
  • 27
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse A, Juppner H: A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995;268:98-100.
    • (1995) Science , vol.268 , pp. 98-100
    • Schipani, E.1    Kruse, A.2    Juppner, H.3
  • 28
    • 0028037143 scopus 로고
    • Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation
    • Pollak MR, Brown EM, Estep HL et al: Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 1994;8:303-307.
    • (1994) Nat Genet , vol.8 , pp. 303-307
    • Pollak, M.R.1    Brown, E.M.2    Estep, H.L.3
  • 29
    • 0025823103 scopus 로고
    • Dimerization of human growth hormone by zinc
    • Cunningham BC, Mulkerrin MG, Wells JA: Dimerization of human growth hormone by zinc. Science 1991;253:545-548.
    • (1991) Science , vol.253 , pp. 545-548
    • Cunningham, B.C.1    Mulkerrin, M.G.2    Wells, J.A.3
  • 30
    • 0021931293 scopus 로고
    • Clinical longitudinal standards for height and height velocity in North American children
    • Tanner JM, Davies PSW: Clinical longitudinal standards for height and height velocity in North American children. J Pediatr 1985;107: 317-329.
    • (1985) J Pediatr , vol.107 , pp. 317-329
    • Tanner, J.M.1    Davies, P.S.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.