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Volumn 24, Issue , 2013, Pages 128-137

Molecular IGF-1 and IGF-1 receptor defects: From genetics to clinical management

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EID: 84925833600     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1159/000342841     Document Type: Chapter
Times cited : (5)

References (32)
  • 1
    • 84861986394 scopus 로고    scopus 로고
    • Insulin-like growth factor 1 physiology: lessons from mouse models
    • Yakar S, Adamo ML: Insulin-like growth factor 1 physiology: lessons from mouse models. Endocrinol Metab Clin North Am 2012;41:231-247.
    • (2012) Endocrinol Metab Clin North Am , vol.41 , pp. 231-247
    • Yakar, S.1    Adamo, M.L.2
  • 2
    • 0035175162 scopus 로고    scopus 로고
    • Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth
    • Lupu F, Terwilliger JD, Lee K, Segre GV, Efstratiadis A: Roles of growth hormone and insulin-like growth factor 1 in mouse postnatal growth. Dev Biol 2001;229:141-162.
    • (2001) Dev Biol , vol.229 , pp. 141-162
    • Lupu, F.1    Terwilliger, J.D.2    Lee, K.3    Segre, G.V.4    Efstratiadis, A.5
  • 3
    • 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-Hübner 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-Hübner, C.2    Savage, M.O.3    Clark, A.J.4
  • 4
    • 0027496895 scopus 로고
    • Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)
    • Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A: Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 1993;75:59-72.
    • (1993) Cell , vol.75 , pp. 59-72
    • Liu, J.P.1    Baker, J.2    Perkins, A.S.3    Robertson, E.J.4    Efstratiadis, A.5
  • 5
    • 0034457922 scopus 로고    scopus 로고
    • A targeted partial invalidation of the insulin-like growth factor I receptor gene in mice causes a postnatal growth deficit
    • Holzenberger M, Leneuve P, Hamard G, Ducos B, Périn L, Binoux M, Le Bouc Y: A targeted partial invalidation of the insulin-like growth factor I receptor gene in mice causes a postnatal growth deficit. Endocrinology 2000;141:2557-2566.
    • (2000) Endocrinology , vol.141 , pp. 2557-2566
    • Holzenberger, M.1    Leneuve, P.2    Hamard, G.3    Ducos, B.4    Périn, L.5    Binoux, M.6    Le Bouc, Y.7
  • 7
    • 0034458337 scopus 로고    scopus 로고
    • Effects of insulinlike growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion
    • Woods KA, Camacho-Hübner C, Bergman RN, Barter D, Clark AJ, Savage MO: Effects of insulinlike growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion. J Clin Endocrinol Metab 2000;85:1407-1411.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1407-1411
    • Woods, K.A.1    Camacho-Hübner, C.2    Bergman, R.N.3    Barter, D.4    Clark, A.J.5    Savage, M.O.6
  • 8
    • 1642544606 scopus 로고    scopus 로고
    • A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency
    • Bonapace G, Concolino D, Formicola S, Strisciuglio P: A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet 2003;40:913-917.
    • (2003) J Med Genet , vol.40 , pp. 913-917
    • Bonapace, G.1    Concolino, D.2    Formicola, S.3    Strisciuglio, P.4
  • 9
    • 77949423878 scopus 로고    scopus 로고
    • Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation
    • Concolino D, Muzzi G, Sestito S, Vega G, Bonapace G, Strisciuglio P: Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation. Eur J Pediatr 2010;169:245-247.
    • (2010) Eur J Pediatr , vol.169 , pp. 245-247
    • Concolino, D.1    Muzzi, G.2    Sestito, S.3    Vega, G.4    Bonapace, G.5    Strisciuglio, P.6
  • 11
    • 21044454840 scopus 로고    scopus 로고
    • Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation
    • Walenkamp MJE, Karperien M, Pereira AM, et al: Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005;90:2855-2864.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 2855-2864
    • Walenkamp, M.J.E.1    Karperien, M.2    Pereira, A.M.3
  • 13
    • 79952496635 scopus 로고    scopus 로고
    • IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
    • Netchine I, Azzi S, Le Bouc Y, Savage MO: IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development. Best Pract Res Clin Endocrinol Metab 2011;25:181-190.
    • (2011) Best Pract Res Clin Endocrinol Metab , vol.25 , pp. 181-190
    • Netchine, I.1    Azzi, S.2    Le Bouc, Y.3    Savage, M.O.4
  • 14
    • 78049502840 scopus 로고    scopus 로고
    • Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene
    • van Duyvenvoorde HA, van Setten PA, Walenkamp MJE, et al: Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene. J Clin Endocrinol Metab 2010;95: E363-E367.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. E363-E367
    • van Duyvenvoorde, H.A.1    van Setten, P.A.2    Walenkamp, M.J.E.3
  • 15
    • 10744222578 scopus 로고    scopus 로고
    • A longitudinal study of intrauterine growth and the placental growth hormone (GH)-insulin-like growth factor I axis in maternal circulation: association between placental GH and fetal growth
    • Chellakooty M, Vangsgaard K, Larsen T, Scheike T, Falck-Larsen J, Legarth J, Andersson AM, Main KM, Skakkebaek NE, Juul A: A longitudinal study of intrauterine growth and the placental growth hormone (GH)-insulin-like growth factor I axis in maternal circulation: association between placental GH and fetal growth. J Clin Endocrinol Metab 2004;89:384-391.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 384-391
    • Chellakooty, M.1    Vangsgaard, K.2    Larsen, T.3    Scheike, T.4    Falck-Larsen, J.5    Legarth, J.6    Andersson, A.M.7    Main, K.M.8    Skakkebaek, N.E.9    Juul, A.10
  • 16
    • 84865482309 scopus 로고    scopus 로고
    • Identification of a novel heterozygous igf1 splicing mutation in a large kindred with familial short stature
    • Fuqua JS, Derr M, Rosenfeld RG, Hwa V: Identification of a novel heterozygous igf1 splicing mutation in a large kindred with familial short stature. Horm Res Paediatr 2012;78:59-66.
    • (2012) Horm Res Paediatr , vol.78 , pp. 59-66
    • Fuqua, J.S.1    Derr, M.2    Rosenfeld, R.G.3    Hwa, V.4
  • 18
    • 78650877978 scopus 로고    scopus 로고
    • Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure
    • Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ, Yoo HW: Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure. J Clin Endocrinol Metab 2011;96:E130-E134.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. E130-E134
    • Choi, J.H.1    Kang, M.2    Kim, G.H.3    Hong, M.4    Jin, H.Y.5    Lee, B.H.6    Park, J.Y.7    Lee, S.M.8    Seo, E.J.9    Yoo, H.W.10
  • 19
    • 66149093914 scopus 로고    scopus 로고
    • Familial short stature caused by haploinsufficiency of the insulin-like growth factor I Receptor due to nonsense-mediated messenger ribonucleic acid decay
    • Fang P, Schwartz ID, Johnson BD, Derr MA, Roberts CT, Hwa V, Rosenfeld RG: Familial short stature caused by haploinsufficiency of the insulin-like growth factor I Receptor due to nonsense-mediated messenger ribonucleic acid decay. J Clin Endocrinol Metab 2009;94:1740-1747.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 1740-1747
    • Fang, P.1    Schwartz, I.D.2    Johnson, B.D.3    Derr, M.A.4    Roberts, C.T.5    Hwa, V.6    Rosenfeld, R.G.7
  • 20
    • 84856807814 scopus 로고    scopus 로고
    • Severe short stature caused by novel compound heterozygous mutations of the insulinlike growth factor 1 receptor (IGF1R)
    • Fang P, Hi Cho Y, Derr MA, Rosenfeld RG, Hwa V, Cowell CT: Severe short stature caused by novel compound heterozygous mutations of the insulinlike growth factor 1 receptor (IGF1R). J Clin Endocrinol Metab 2012;97:E243-E247.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. E243-E247
    • Fang, P.1    Hi Cho, Y.2    Derr, M.A.3    Rosenfeld, R.G.4    Hwa, V.5    Cowell, C.T.6
  • 22
    • 23844528772 scopus 로고    scopus 로고
    • Mutation at cleavage site of insulinlike growth factor receptor in a short-stature child born with intrauterine growth retardation
    • Kawashima Y: Mutation at cleavage site of insulinlike growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab 2005;90:4679-4687.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4679-4687
    • Kawashima, Y.1
  • 24
    • 77952755454 scopus 로고    scopus 로고
    • A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation
    • Wallborn T, Wuller S, Klammt J, Kruis T, Kratzsch J, Schmidt G, Schlicke M, Muller E, Schmitz van de Leur H, Kiess W, Pfaffle R: A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation. J Clin Endocrinol Metab 2010;95:2316-2324.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 2316-2324
    • Wallborn, T.1    Wuller, S.2    Klammt, J.3    Kruis, T.4    Kratzsch, J.5    Schmidt, G.6    Schlicke, M.7    Muller, E.8    Schmitz van de Leur, H.9    Kiess, W.10    Pfaffle, R.11
  • 27
    • 84860390564 scopus 로고    scopus 로고
    • An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree
    • Mohn A, Marcovecchio ML, de Giorgis T, Pfaeffle R, Chiarelli F, Kiess W: An insulin-like growth factor-I receptor defect associated with short stature and impaired carbohydrate homeostasis in an Italian pedigree. Horm Res Paediatr 2011;76:136-143.
    • (2011) Horm Res Paediatr , vol.76 , pp. 136-143
    • Mohn, A.1    Marcovecchio, M.L.2    de Giorgis, T.3    Pfaeffle, R.4    Chiarelli, F.5    Kiess, W.6
  • 28
    • 33744948332 scopus 로고    scopus 로고
    • Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor I receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R
    • Raile K, Klammt J, Schneider A, Keller A, Laue S, Smith R, Pfaffle R, Kratzsch J, Keller E, Kiess W: Clinical and functional characteristics of the human Arg59Ter insulin-like growth factor I receptor (IGF1R) mutation: implications for a gene dosage effect of the human IGF1R. J Clin Endocrinol Metab 2006;91:2264-2271.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 2264-2271
    • Raile, K.1    Klammt, J.2    Schneider, A.3    Keller, A.4    Laue, S.5    Smith, R.6    Pfaffle, R.7    Kratzsch, J.8    Keller, E.9    Kiess, W.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.