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Volumn 9, Issue SUPPL. 1, 2011, Pages 529-534

From GHRH to IGF-1 and downstream: Clinical phenotypes and biological mechanisms

Author keywords

IGF i mutations; IGHD type1; Type 1 B

Indexed keywords

GONADORELIN; GROWTH HORMONE; RECOMBINANT SOMATOMEDIN C; SOMATOMEDIN C; TRANSCRIPTION FACTOR SOX3; GROWTH HORMONE RELEASING FACTOR; HUMAN GROWTH HORMONE; SOMATOMEDIN C RECEPTOR;

EID: 84859238416     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (3)

References (55)
  • 1
    • 0017748821 scopus 로고
    • National study of health and growth: standards of attained height, weight and triceps skinfold in English children 5 to 11 years old
    • Rona RJ, Altman DG, National study of health and growth: standards of attained height, weight and triceps skinfold in English children 5 to 11 years old. Ann Hum Biol 1977;4:501-523 (Pubitemid 8235226)
    • (1977) Annals of Human Biology , vol.4 , Issue.6 , pp. 501-523
    • Rona, R.J.1    Altman, D.G.2
  • 2
    • 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;125:29-353.
    • (1994) J Pediatr , vol.125 , pp. 29-353
    • Lindsay, R.1    Feldkamp, M.2    Harris, D.3    Robertson, J.4    Rallison, M.5
  • 3
    • 56249109079 scopus 로고    scopus 로고
    • Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia
    • Corneli G, Vivenza D, Prodam F, Di Dio G, Vottero A, Rapa A, Bellone S,Bernasconi S, Bona G, Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.J Endocrinol Invest 2008;31:689-693
    • (2008) J Endocrinol Invest , vol.31 , pp. 689-693
    • Corneli, G.1    Vivenza, D.2    Prodam, F.3    Di Dio, G.4    Vottero, A.5    Rapa, A.6    Bellone, S.7    Bernasconi, S.8    Bona, G.9
  • 8
    • 0014897731 scopus 로고
    • Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH)
    • Illig R, Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH). J Clin Endocrinol Metab 1970;31:679-688
    • (1970) J Clin Endocrinol Metab , vol.31 , pp. 679-688
    • Illig, R.1
  • 10
    • 0022399215 scopus 로고
    • Human growth hormone gene deletion without antibody formation or growth arrest during treatment - A new disease entity?
    • Laron Z, Kelijman M, Pertzelan A, Keret R, Shoffner JM, Parks JS, Human growth hormone gene deletion without antibody formation or growth arrest during treatment-a new disease entity? Isr J Med Sci 1985;21:999-1006 (Pubitemid 16157464)
    • (1985) Israel Journal of Medical Sciences , vol.21 , Issue.12 , pp. 999-1006
    • Laron, Z.1    Kelijman, M.2    Pertzelan, A.3
  • 11
    • 33847300983 scopus 로고    scopus 로고
    • Genetics of growth hormone deficiency
    • Mullis PE, Genetics of growth hormone deficiency. Endocrinol Metab Clin North Am 2007;36:17-36
    • (2007) Endocrinol Metab Clin North Am , vol.36 , pp. 17-36
    • Mullis, P.E.1
  • 12
    • 84925872156 scopus 로고    scopus 로고
    • Biological determinants of responsiveness to growth hormone: Pharmacogenomics and personalized medicine
    • Mullis PE, Biological determinants of responsiveness to growth hormone: pharmacogenomics and personalized medicine. Endocr Dev 2010;18:67-82
    • (2010) Endocr Dev , vol.18 , pp. 67-82
    • Mullis, P.E.1
  • 13
    • 0028205357 scopus 로고
    • Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis
    • DOI 10.1210/jc.78.3.622
    • Perez Jurado LA, Phillips JA, 3rd, Francke U, Exclusion of growth hormone (GH) releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis. J Clin Endocrinol Metab 1994;78:622-628 (Pubitemid 24083302)
    • (1994) Journal of Clinical Endocrinology and Metabolism , vol.78 , Issue.3 , pp. 622-628
    • Perez, J.L.A.1    Phillips III, J.A.2    Francke, U.3
  • 14
    • 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
  • 15
    • 0027265595 scopus 로고
    • GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
    • DOI 10.1038/ng0793-227
    • 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 (Pubitemid 23205169)
    • (1993) Nature Genetics , vol.4 , Issue.3 , 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
  • 17
    • 0032886235 scopus 로고    scopus 로고
    • Mutations in the growth hormone releasing hormone receptor: A new form of dwarfism in humans
    • Baumann G, Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans. Growth Horm IGF Res 1999;9SupplB:24-29;29-30
    • (1999) Growth Horm IGF Res , vol.9 , Issue.SUPPL. B
    • Baumann, G.1
  • 18
    • 77956916684 scopus 로고    scopus 로고
    • Genetic causes and treatment of isolated growth hormone deficiency-an update
    • Alatzoglou KS, Dattani MT, Genetic causes and treatment of isolated growth hormone deficiency-an update. Nat Rev Endocrinol 2010;6:562-576
    • (2010) Nat Rev Endocrinol , vol.6 , pp. 562-576
    • Alatzoglou, K.S.1    Dattani, M.T.2
  • 19
    • 4143067828 scopus 로고    scopus 로고
    • Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene
    • DOI 10.1016/S0083-6729(04)69007-8, PII S0083672904690078
    • Alba M, Salvatori R, Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene. Vitam Horm 2004;69:209-220 (Pubitemid 39753690)
    • (2004) Vitamins and Hormones , vol.69 , pp. 209-220
    • Alba, M.1    Salvatori, R.2
  • 20
    • 3142739023 scopus 로고    scopus 로고
    • Phenotypic analysis and growth response to different growth hormone treatment schedules in two siblings with an inactivating mutation in the growth hormone-releasing hormone receptor gene
    • Espigares R, Martin de Lara I, Ruiz-Cabello F, Ortega L, Ferrandez Longas A, Argente J, Salvatori R, Phenotypic analysis and growth response to different growth hormone treatment schedules in two siblings with an inactivating mutation in the growth hormone-releasing hormone receptor gene. J Pediatr Endocrinol Metab 2004;17:793-800
    • (2004) J Pediatr Endocrinol Metab , vol.17 , pp. 793-800
    • Espigares, R.1    Martin De Lara, I.2    Ruiz-Cabello, F.3    Ortega, L.4    Ferrandez Longas, A.5    Argente, J.6    Salvatori, R.7
  • 22
    • 78651332749 scopus 로고    scopus 로고
    • Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature
    • Oxf
    • Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K, Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature. Clin Endocrinol (Oxf) 2011;74:223-233
    • (2011) Clin Endocrinol , vol.74 , pp. 223-233
    • Inoue, H.1    Kangawa, N.2    Kinouchi, A.3    Sakamoto, Y.4    Kimura, C.5    Horikawa, R.6    Shigematsu, Y.7    Itakura, M.8    Ogata, T.9    Fujieda, K.10
  • 23
    • 0038407911 scopus 로고    scopus 로고
    • Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene
    • DOI 10.1530/eje.0.1480427
    • Oliveira HA, Salvatori R, Krauss MP, Oliveira CR, Silva PR, Aguiar-Oliveira MH Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene. Eur J Endocrinol 2003;148:427-432 (Pubitemid 36527413)
    • (2003) European Journal of Endocrinology , vol.148 , Issue.4 , 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
  • 25
    • 78650301694 scopus 로고    scopus 로고
    • Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation
    • Siklar Z, Berberoglu M, Legendre M, Amselem S, Evliyaoglu O, Hacihamdioglu B, Erdeve SS, Ocal G, Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation. J Clin Res Pediatr, Endocrinol 2010;2:164-167
    • (2010) J Clin Res Pediatr, Endocrinol , vol.2 , pp. 164-167
    • Siklar, Z.1    Berberoglu, M.2    Legendre, M.3    Amselem, S.4    Evliyaoglu, O.5    Hacihamdioglu, B.6    Erdeve, S.S.7    Ocal, G.8
  • 28
    • 0028080819 scopus 로고
    • Molecular basis of familial growth hormone deficiency
    • Perez Jurado LA, Argente J, Molecular basis of familial growth hormone deficiency. Horm Res 1994;42:189-197 (Pubitemid 24336147)
    • (1994) Hormone Research , vol.42 , Issue.4-5 , pp. 189-197
    • Perez, J.L.A.1    Argente, J.2
  • 29
    • 0031890209 scopus 로고    scopus 로고
    • Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency
    • Wagner JK, Eble A, Hindmarsh PC, Mullis PE, Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res 1998;43:105-110 (Pubitemid 28069175)
    • (1998) Pediatric Research , vol.43 , Issue.1 , pp. 105-110
    • Wagner, J.K.1    Eble, A.2    Hindmarsh, P.C.3    Mullis, P.E.4
  • 30
    • 0032821940 scopus 로고    scopus 로고
    • Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families
    • DOI 10.1046/j.1365-2265.1999.00798.x
    • Kamijo T, Hayashi Y, Shimatsu A, Kinoshita E, Yoshimoto M, Ogawa M, Seo H, Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families. Clin Endocrinol (Oxf) 1999;51:355-360 (Pubitemid 29439056)
    • (1999) Clinical Endocrinology , vol.51 , Issue.3 , pp. 355-360
    • Kamijo, T.1    Hayashi, Y.2    Shimatsu, A.3    Kinoshita, E.4    Yoshimoto, M.5    Ogawa, M.6    Seo, H.7
  • 32
    • 0028955078 scopus 로고
    • Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
    • Binder G, Ranke MB, Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab 1995;80:1247-1252
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1247-1252
    • Binder, G.1    Ranke, M.B.2
  • 34
    • 0031683931 scopus 로고    scopus 로고
    • Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA
    • McCarthy EM, Phillips JA, 3rd,Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Hum Mol Genet 1998;7:1491-1496
    • (1998) Hum Mol Genet , vol.7 , pp. 1491-1496
    • McCarthy, E.M.1    Phillips III, J.A.2
  • 35
    • 0036918610 scopus 로고    scopus 로고
    • New GH-1 gene mutations: Expanding the spectrum of causes of isolated growth hormone deficiency
    • Mullis PE, Deladoey J, Dannies PS, New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency. J Pediatr Endocrinol Metab 2002;15(Suppl5):1301-1310
    • (2002) J Pediatr Endocrinol Metab , vol.15 , Issue.SUPPL. 5 , pp. 1301-1310
    • Mullis, P.E.1    Deladoey, J.2    Dannies, P.S.3
  • 38
    • 0036524155 scopus 로고    scopus 로고
    • An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II
    • DOI 10.1034/j.1399-0004.2002.610310.x
    • Takahashi I, Takahashi T, Komatsu M, Sato T, Takada G, An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II. Clin Genet 2002;61:222-225 (Pubitemid 36372637)
    • (2002) Clinical Genetics , vol.61 , Issue.3 , pp. 222-225
    • Takahashi, I.1    Takahashi, T.2    Komatsu, M.3    Sato, T.4    Takada, G.5
  • 40
    • 0034465474 scopus 로고    scopus 로고
    • Autosomal dominant growth hormone (GH) deficiency type II: The del32-71-GH deletion mutant suppresses secretion of wild-type GH
    • DOI 10.1210/en.141.3.883
    • 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 Del32-71-GH deletion mutant suppresses secretion of wild-type GH. Endocrinology 2000;141:883-890 (Pubitemid 32260431)
    • (2000) Endocrinology , vol.141 , Issue.3 , 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
  • 41
    • 0033304919 scopus 로고    scopus 로고
    • Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: An implication for isolated GH deficiency inherited in an autosomal dominant manner
    • Hayashi Y, Yamamoto M, Ohmori S, Kamijo T, Ogawa M, Seo H, Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner. J Clin Endocrinol Metab 1999;84:2134-2139 (Pubitemid 30647045)
    • (1999) Journal of Clinical Endocrinology and Metabolism , vol.84 , Issue.6 , pp. 2134-2139
    • Hayashi, Y.1    Yamamoto, M.2    Ohmori, S.3    Kamijo, T.4    Ogawa, M.5    Seo, H.6
  • 42
    • 77954520487 scopus 로고    scopus 로고
    • Growth hormone (GH)-releasing hormone increases the expression of the dominant negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations
    • Petkovic V, Godi M, Lochmatter D, Eble A, Fluck CE, Robinson IC, Mullis PE, Growth hormone (GH)-releasing hormone increases the expression of the dominant negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations. Endocrinology 2010;151:2650-2658
    • (2010) Endocrinology , vol.151 , pp. 2650-2658
    • Petkovic, V.1    Godi, M.2    Lochmatter, D.3    Eble, A.4    Fluck, C.E.5    Robinson, I.C.6    Mullis, P.E.7
  • 43
    • 0027496895 scopus 로고
    • Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)
    • DOI 10.1016/0092-8674(93)90679-K
    • Liu J-P, Baker J, Perkins AS, Robertson EJ, Efstratiadis A, Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf1) and type 1 IGF receptor (Igf1r). Cell 1993;75:59-72 (Pubitemid 23306021)
    • (1993) Cell , vol.75 , Issue.1 , pp. 59-72
    • Liu, J.-P.1    Baker, J.2    Perkins, A.S.3    Robertson, E.J.4    Efstratiadis, A.5
  • 44
    • 0029805072 scopus 로고    scopus 로고
    • Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
    • DOI 10.1056/NEJM199610313351805
    • 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 (Pubitemid 26360455)
    • (1996) New England Journal of Medicine , vol.335 , Issue.18 , pp. 1363-1367
    • Woods, K.A.1    Camacho-Hubner, C.2    Savage, M.O.3    Clark, A.J.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.