메뉴 건너뛰기




Volumn 5, Issue 1, 2004, Pages 15-23

Growth Hormone and IGF-1

Author keywords

Genes; GH deficiency; GH resistance; Mutations

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE RECEPTOR; SOMATOMEDIN C;

EID: 1642281918     PISSN: 13899155     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:REMD.0000016121.58762.6d     Document Type: Review
Times cited : (25)

References (62)
  • 1
    • 0032952176 scopus 로고    scopus 로고
    • 1999 Neuroendocrine control of growth hormone secretion
    • Muller EE, Locatelli V, Cocchi D. 1999 Neuroendocrine control of growth hormone secretion. Physiol Rev 1999;79:511-607.
    • (1999) Physiol Rev , vol.79 , pp. 511-607
    • Muller, E.E.1    Locatelli, V.2    Cocchi, D.3
  • 2
    • 0033540056 scopus 로고    scopus 로고
    • Ghrelin is a growth hormone-releasing acylated peptide from stomach
    • Kojima M, Hosoda H, Date Y, Kakazato M, Matsuo H, Kangawa K. Ghrelin is a growth hormone-releasing acylated peptide from stomach. Nature 1999;402:656-660.
    • (1999) Nature , vol.402 , pp. 656-660
    • Kojima, M.1    Hosoda, H.2    Date, Y.3    Kakazato, M.4    Matsuo, H.5    Kangawa, K.6
  • 4
    • 0028319104 scopus 로고
    • Utah growth study: Growth standards and the prevalence of growth hormone deficiency
    • Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M. Utah growth study: Growth standards and the prevalence of growth hormone deficiency. J Pediatr 1994;125:29-35.
    • (1994) J Pediatr , vol.125 , pp. 29-35
    • Lindsay, R.1    Feldkamp, M.2    Harris, D.3    Robertson, J.4    Rallison, M.5
  • 5
    • 0025149577 scopus 로고
    • Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: A study with magnetic resonance
    • Cacciari E, Zucchini S, Carla G, Pirazzoli P, Cicognani A, Mandini M, Busacca M, Trevisan C. Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: A study with magnetic resonance. Arch Dis Child 1990;65:1199-1202.
    • (1990) Arch Dis Child , vol.65 , pp. 1199-1202
    • Cacciari, E.1    Zucchini, S.2    Carla, G.3    Pirazzoli, P.4    Cicognani, A.5    Mandini, M.6    Busacca, M.7    Trevisan, C.8
  • 6
    • 0032471910 scopus 로고    scopus 로고
    • MR imaging in idiopathic growth hormone deficiency
    • Hamilton J, Blaser S, Daneman D. MR imaging in idiopathic growth hormone deficiency. Am J Neuroradiol 1998;19:1609-1615.
    • (1998) Am J Neuroradiol , vol.19 , pp. 1609-1615
    • Hamilton, J.1    Blaser, S.2    Daneman, D.3
  • 7
    • 0031637399 scopus 로고    scopus 로고
    • Growth disorders caused by genetic defects in the growth hormone pathway GH deficiency
    • Barness LA, Morron III G, Rudolph AM, De Vivo DC, Kabace MM, Tunnessen WW, Jr. eds, Mosby St. Louis
    • Cogan JD, Phillips JA III. Growth disorders caused by genetic defects in the growth hormone pathway GH deficiency. Barness LA, Morron III G, Rudolph AM, De Vivo DC, Kabace MM, Tunnessen WW, Jr. eds. Advances in Pediatrics Mosby St. Louis, 1998:337-361.
    • (1998) Advances in Pediatrics , pp. 337-361
    • Cogan, J.D.1    Phillips III, J.A.2
  • 8
    • 0028205357 scopus 로고
    • Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis
    • Perez Jurado LA, Phillips JA III, Francke U. Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis. J Clin Endocrinol Metab 1994;78:622-628.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 622-628
    • Perez Jurado, L.A.1    Phillips III, J.A.2    Francke, U.3
  • 11
    • 0032230249 scopus 로고    scopus 로고
    • Identification of binding domains of the growth hormone-releasing hormone receptor by analysis of mutant and chimeric receptor proteins
    • DeAlmeida VI, Mayo KE. Identification of binding domains of the growth hormone-releasing hormone receptor by analysis of mutant and chimeric receptor proteins. Mol Endocrinol 1998;12:750-765.
    • (1998) Mol Endocrinol , vol.12 , pp. 750-765
    • DeAlmeida, V.I.1    Mayo, K.E.2
  • 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. 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
    • 0027265595 scopus 로고
    • GHRHR 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. GHRHR of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nature Genetics 1993;4:227-232.
    • (1993) Nature Genetics , 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
  • 14
    • 0030033150 scopus 로고    scopus 로고
    • Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
    • Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr, Leibel RL. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nature Genetics 1996;12:88-90.
    • (1996) Nature Genetics , vol.12 , pp. 88-90
    • Wajnrajch, M.P.1    Gertner, J.M.2    Harbison, M.D.3    Chua Jr., S.C.4    Leibel, R.L.5
  • 15
    • 0031732361 scopus 로고    scopus 로고
    • Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh
    • Maheshwari HG, Silverman BL, Dupuis J Baumann G. Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. J Clin Endocrinol Metab 1998;83:4065-4074.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 4065-4074
    • Maheshwari, H.G.1    Silverman, B.L.2    Dupuis, J.3    Baumann, G.4
  • 16
    • 0031732852 scopus 로고    scopus 로고
    • Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GHReleasing hormone receptor gene
    • Netchine I, Talon P, Dastot F, Vitaux F, Goosens M, Amselem S. Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GHReleasing hormone receptor gene. J Crin Endocrinol Merab 1998;83:432-436.
    • (1998) J Crin Endocrinol Merab , vol.83 , pp. 432-436
    • Netchine, I.1    Talon, P.2    Dastot, F.3    Vitaux, F.4    Goosens, M.5    Amselem, S.6
  • 19
    • 0035726151 scopus 로고    scopus 로고
    • Isolated growth hormone (GH) deficiency due to compound heterozygosity for 2 new mutations in the GH releasing hormone receptor gene
    • Salvatori R, Fan X, Phillips III JA, Prince M, Levine MA. Isolated growth hormone (GH) deficiency due to compound heterozygosity for 2 new mutations in the GH releasing hormone receptor gene. Clin Endocrinl (Oxf) 2001;54:681-688.
    • (2001) Clin Endocrinl (Oxf) , vol.54 , pp. 681-688
    • Salvatori, R.1    Fan, X.2    Phillips III, J.A.3    Prince, M.4    Levine, M.A.5
  • 20
    • 0036188123 scopus 로고    scopus 로고
    • Decreased expression of the growth hormone-releasing hormone receptor gene due to a mutation in a Pit-1 binding site
    • Salvatori R, Fan X, Mullis PE, Haile A, Levine MA. Decreased expression of the growth hormone-releasing hormone receptor gene due to a mutation in a Pit-1 binding site. Mol Endocrinol 2002;16:450-458.
    • (2002) Mol Endocrinol , vol.16 , pp. 450-458
    • Salvatori, R.1    Fan, X.2    Mullis, P.E.3    Haile, A.4    Levine, M.A.5
  • 21
    • 0036856154 scopus 로고    scopus 로고
    • Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GHReleasing hormone receptor gene
    • Salvatori R, Fan X, Veldhuis J, Couch R. Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GHReleasing hormone receptor gene. Eur J Endocrinol 2002;147:591-596.
    • (2002) Eur J Endocrinol , vol.147 , pp. 591-596
    • Salvatori, R.1    Fan, X.2    Veldhuis, J.3    Couch, R.4
  • 23
    • 0034974980 scopus 로고    scopus 로고
    • Growth hormone (GH) secretion in patients with an inactivating defect of the GH Releasing hormone (GHRH) receptor is pulsatile: Evidence for a role for non-GHRH inputs into the generation of GH pulses
    • Roelfsema F, Biermasz NR, Veldman RG, Veldhuis JD, Frolich M, Stokvis-Brantsma WH, Wit JM. Growth hormone (GH) secretion in patients with an inactivating defect of the GH Releasing hormone (GHRH) receptor is pulsatile: Evidence for a role for non-GHRH inputs into the generation of GH pulses. J Clin Endocrinol Metab 2001;86:2459-2464.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2459-2464
    • Roelfsema, F.1    Biermasz, N.R.2    Veldman, R.G.3    Veldhuis, J.D.4    Frolich, M.5    Stokvis-Brantsma, W.H.6    Wit, J.M.7
  • 24
    • 0036479823 scopus 로고    scopus 로고
    • Isolated GH deficiency due to inactivating mutation of GHRH receptor
    • Horikawa R. Isolated GH deficiency due to inactivating mutation of GHRH receptor. Nippon Rinsho 2002;60:297-305.
    • (2002) Nippon Rinsho , vol.60 , pp. 297-305
    • Horikawa, R.1
  • 28
    • 0038407911 scopus 로고    scopus 로고
    • Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the growth hormone releasing hormone receptor gene
    • Oliveira HA, Salvatori R, Krauss MPO, Oliveira CRP, Silva PRC, Aguiar-Oliveira MH. Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the growth hormone releasing hormone receptor gene. Eur J Endocrinol 2003;148:427-432.
    • (2003) Eur J Endocrinol , vol.148 , pp. 427-432
    • Oliveira, H.A.1    Salvatori, R.2    Krauss, M.P.O.3    Oliveira, C.R.P.4    Silva, P.R.C.5    Aguiar-Oliveira, M.H.6
  • 29
    • 0034090514 scopus 로고    scopus 로고
    • Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene
    • Murray RA, Maheshwari HG, Russell EJ, Baumann G. Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. Am J Neuroradiol 2000;21:685-689.
    • (2000) Am J Neuroradiol , vol.21 , pp. 685-689
    • Murray, R.A.1    Maheshwari, H.G.2    Russell, E.J.3    Baumann, G.4
  • 32
    • 0031890209 scopus 로고    scopus 로고
    • Prevalence of human GH-1 alterations in patients with isolated growth hormone deficiency
    • Wagner JK, Eble A, Hindmarsh PC, Mullis PE. Prevalence of human GH-1 alterations in patients with isolated growth hormone deficiency. Pediatr Res 1998;43:105-110.
    • (1998) Pediatr Res , vol.43 , pp. 105-110
    • Wagner, J.K.1    Eble, A.2    Hindmarsh, P.C.3    Mullis, P.E.4
  • 33
    • 0037326151 scopus 로고    scopus 로고
    • A novel IVS2 - 2A > T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population
    • Fofanova OV, Evgrafov OV, Polyakov AV, Poltaraus AB, Peterkova VA, Dedov II. A novel IVS2 - 2A > T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population. J Clin Endocrinol Metab 2003;88:820-826,
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 820-826
    • Fofanova, O.V.1    Evgrafov, O.V.2    Polyakov, A.V.3    Poltaraus, A.B.4    Peterkova, V.A.5    Dedov, I.I.6
  • 35
    • 0025673701 scopus 로고
    • Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats
    • Vnencak-Jones CL, Phillips JA 3rd. Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. Science 1990;250:1745-1748.
    • (1990) Science , vol.250 , pp. 1745-1748
    • Vnencak-Jones, C.L.1    Phillips III, J.A.2
  • 37
    • 0034465474 scopus 로고    scopus 로고
    • Autosomal dominant growth hormone (GH) deficiency type II: The De132-71-GH deletion mutant suppresses secretion of wild-type GH
    • Lee MS, Wajnrajch MP, Kim SS, Plotnick LP, Wang J, Gertner JM, Leibel RL, Dannies PS. Autosomal dominant growth hormone (GH) deficiency type II: The De132-71-GH deletion mutant suppresses secretion of wild-type GH. Endocrinology 2000;141:883-890.
    • (2000) Endocrinology , vol.141 , pp. 883-890
    • Lee, M.S.1    Wajnrajch, M.P.2    Kim, S.S.3    Plotnick, L.P.4    Wang, J.5    Gertner, J.M.6    Leibel, R.L.7    Dannies, P.S.8
  • 40
    • 0036930374 scopus 로고    scopus 로고
    • Isolated GH deficiency (IGHD) type II: Imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin
    • Binder G, Nagel BH, Ranke MB, Mullis PE. Isolated GH deficiency (IGHD) type II: Imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin. Eur J Endocrinol 2002;147:755-760.
    • (2002) Eur J Endocrinol , vol.147 , pp. 755-760
    • Binder, G.1    Nagel, B.H.2    Ranke, M.B.3    Mullis, P.E.4
  • 42
    • 0018096351 scopus 로고
    • Growth failure with normal serum RIA-GH and low somatomedin activity: Somatomedin restoration and growth acceleration after exogenous GH
    • Kowarski AA, Schneider J, Ben-Galim E, Weldon VV, Daughaday WH. Growth failure with normal serum RIA-GH and low somatomedin activity: Somatomedin restoration and growth acceleration after exogenous GH. J Clin Endocrinol Metab 1978;47:461-464.
    • (1978) J Clin Endocrinol Metab , vol.47 , pp. 461-464
    • Kowarski, A.A.1    Schneider, J.2    Ben-Galim, E.3    Weldon, V.V.4    Daughaday, W.H.5
  • 47
    • 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;2:152-155.
    • (1966) Isr J Med Sci , vol.2 , pp. 152-155
    • Laron, Z.1    Pertzelan, A.2    Mannheimer, S.3
  • 48
    • 0032460789 scopus 로고    scopus 로고
    • Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor
    • Wojcik J, Berg MA, Esposito N, Geffner ME, Sakati N, Reiter EO, Dower S, Francke U, Postel-Vinay MC, Finidori J. Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. J Clin Endocrinol Metab 1998;83:4481-4489.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 4481-4489
    • Wojcik, J.1    Berg, M.A.2    Esposito, N.3    Geffner, M.E.4    Sakati, N.5    Reiter, E.O.6    Dower, S.7    Francke, U.8    Postel-Vinay, M.C.9    Finidori, J.10
  • 51
    • 0033305597 scopus 로고    scopus 로고
    • The essential role of IGF-I: Lessons from the long-term study and treatment of children and adults with Laron syndrome
    • Laron Z. The essential role of IGF-I: Lessons from the long-term study and treatment of children and adults with Laron syndrome. J Clin Endocrinol Metab 1999;84:4397-4404.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4397-4404
    • Laron, Z.1
  • 53
    • 0028260333 scopus 로고
    • Growth hormone (GH) insensitivity to primary GH receptor deficiency
    • Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity to primary GH receptor deficiency. Endocrine Rev 1995;15:369-390.
    • (1995) Endocrine Rev , vol.15 , pp. 369-390
    • Rosenfeld, R.G.1    Rosenbloom, A.L.2    Guevara-Aguirre, J.3
  • 54
    • 0037356197 scopus 로고    scopus 로고
    • Pituitary size in patients with Laron syndrome (primary GH insensitivity)
    • Kornreich L, Horev G, Schwarz M, Karmazyn B, Laron Z. Pituitary size in patients with Laron syndrome (primary GH insensitivity). Eur J Endocrinol 2003;148:339-341.
    • (2003) Eur J Endocrinol , vol.148 , pp. 339-341
    • Kornreich, L.1    Horev, G.2    Schwarz, M.3    Karmazyn, B.4    Laron, Z.5
  • 56
    • 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 AL, Guevara-Aguirre J, Berg MA, Francke U. Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives. J Clin Endocrinol Metab 1998;83:2373-2375.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2373-2375
    • Rosenbloom, A.L.1    Guevara-Aguirre, J.2    Berg, M.A.3    Francke, U.4
  • 58
    • 0029805072 scopus 로고    scopus 로고
    • Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
    • Woods KA, Camacho-Hubner C, Savage MO, Clark AJ. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996;335:1363-1367.
    • (1996) N Engl J Med , vol.335 , pp. 1363-1367
    • Woods, K.A.1    Camacho-Hubner, C.2    Savage, M.O.3    Clark, A.J.4
  • 60
    • 0032724368 scopus 로고    scopus 로고
    • In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene
    • De Lacerda L, Carvalho JA, Stannard B, Wener H, Boguzewski MC, Sandrini R, Malozowski SN, Leroith D, Underwood LE. In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene. Clin Endocrinol (Oxf) 1999;51:541-550.
    • (1999) Clin Endocrinol (Oxf) , vol.51 , pp. 541-550
    • De Lacerda, L.1    Carvalho, J.A.2    Stannard, B.3    Wener, H.4    Boguzewski, M.C.5    Sandrini, R.6    Malozowski, S.N.7    Leroith, D.8    Underwood, L.E.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.