메뉴 건너뛰기




Volumn 55, Issue 8, 2011, Pages 541-549

Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardation;mutações no gene do receptor do fator de crescimento insulina-Símile 1 (IGF1R) como causa de retardo do crescimento pré- e pós-natal

Author keywords

Fetal growth retardation; Growth disorders; IGF type 1; Insulin like growth factor I; Mutation; Receptor

Indexed keywords

SOMATOMEDIN C RECEPTOR;

EID: 84855430101     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302011000800007     Document Type: Review
Times cited : (6)

References (41)
  • 2
    • 0037974806 scopus 로고    scopus 로고
    • International Small for Gestational Age Advisory Board consensus development conference statement: Management of short children born small for gestational age, April 24-October 1, 2001
    • Lee PA, Chernausek SD, Hokken-Koelega AC, Czernichow P. International Small for Gestational Age Advisory Board consensus development conference statement: management of short children born small for gestational age, April 24-October 1, 2001. Pediatrics. 2003;111(6 Pt 1):1253-61.
    • (2003) Pediatrics , vol.111 , Issue.1-6 , pp. 1253-1261
    • Lee, P.A.1    Chernausek, S.D.2    Hokken-Koelega, A.C.3    Czernichow, P.4
  • 3
    • 33947501922 scopus 로고    scopus 로고
    • Management of the child born small for gestational age through to adulthood: A consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society
    • Clayton PE, Cianfarani S, Czernichow P, Johannsson G, Rapaport R, Rogol A. Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. J Clin Endocrinol Metab. 2007;92(3):804-10.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.3 , pp. 804-810
    • Clayton, P.E.1    Cianfarani, S.2    Czernichow, P.3    Johannsson, G.4    Rapaport, R.5    Rogol, A.6
  • 5
    • 0029805072 scopus 로고    scopus 로고
    • Intraute-rine 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. Intraute-rine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med. 1996;335(18):1363-7.
    • (1996) N Engl J Med , vol.335 , Issue.18 , pp. 1363-1367
    • Woods, K.A.1    Camacho-Hubner, C.2    Savage, M.O.3    Clark, A.J.4
  • 6
    • 0028934595 scopus 로고
    • Clinical review 68: The endocrine regulation of fetal growth in late gestation: The role of insulin-like growth factors
    • Gluckman PD. Clinical review 68: the endocrine regulation of fetal growth in late gestation: the role of insulin-like growth factors. J Clin Endocrinol Metab. 1995;80(4):1047-50.
    • (1995) J Clin Endocrinol Metab , vol.80 , Issue.4 , pp. 1047-1050
    • Gluckman, P.D.1
  • 7
    • 1642544606 scopus 로고    scopus 로고
    • A novel mutation in a patient with insulin-like growth factor 1 (IGF1) def-ciency
    • Bonapace G, Concolino D, Formicola S, Strisciuglio P. A novel mutation in a patient with insulin-like growth factor 1 (IGF1) def-ciency. J Med Genet. 2003;40(12):913-7.
    • (2003) J Med Genet , vol.40 , Issue.12 , pp. 913-917
    • Bonapace, G.1    Concolino, D.2    Formicola, S.3    Strisciuglio, P.4
  • 8
    • 36849016411 scopus 로고    scopus 로고
    • Polymorphisms identifed in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment
    • Coutinho DC, Coletta RR, Costa EM, Pachi PR, Boguszewski MC, Damiani D, et al. Polymorphisms identifed in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment. J Clin Endocrinol Metab. 2007;92(12):4889-92.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.12 , pp. 4889-4892
    • Coutinho, D.C.1    Coletta, R.R.2    Costa, E.M.3    Pachi, P.R.4    Boguszewski, M.C.5    Damiani, D.6
  • 10
    • 70349898604 scopus 로고    scopus 로고
    • Partial primary defciency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development
    • Netchine I, Azzi S, Houang M, Seurin D, Perin L, Ricort JM, et al. Partial primary defciency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development. J Clin Endocrinol Metab. 2009;94(10):3913-21.
    • (2009) J Clin Endocrinol Metab , vol.94 , Issue.10 , pp. 3913-3921
    • Netchine, I.1    Azzi, S.2    Houang, M.3    Seurin, D.4    Perin, L.5    Ricort, J.M.6
  • 11
    • 0344874656 scopus 로고    scopus 로고
    • IGF-I receptor mutations resulting in in-trauterine and postnatal growth retardation
    • Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lau-tier C, Keller E, et al. IGF-I receptor mutations resulting in in-trauterine and postnatal growth retardation. N Engl J Med. 2003;349(23):2211-22.
    • (2003) N Engl J Med , vol.349 , Issue.23 , pp. 2211-2222
    • Abuzzahab, M.J.1    Schneider, A.2    Goddard, A.3    Grigorescu, F.4    Lau-Tier, C.5    Keller, E.6
  • 12
    • 73249116872 scopus 로고    scopus 로고
    • Two short children born small for gestational age with insulin-like growth factor 1 receptor haploin-suffciency illustrate the heterogeneity of its phenotype
    • Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Rui-venkamp CA, Govaerts LC, et al. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploin-suffciency illustrate the heterogeneity of its phenotype. J Clin Endocrinol Metab. 2009;94(12):4717-27.
    • (2009) J Clin Endocrinol Metab , vol.94 , Issue.12 , pp. 4717-4727
    • Ester, W.A.1    van Duyvenvoorde, H.A.2    de Wit, C.C.3    Broekman, A.J.4    Rui-Venkamp, C.A.5    Govaerts, L.C.6
  • 13
    • 34147115812 scopus 로고    scopus 로고
    • A familial insulin-like growth factor-I receptor mutant leads to short stature: Clinical and biochemical characterization
    • Inagaki K, Tiulpakov A, Rubtsov P, Sverdlova P, Peterkova V, Yakar S, et al. A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. J Clin Endocrinol Metab. 2007;92(4):1542-8.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.4 , pp. 1542-1548
    • Inagaki, K.1    Tiulpakov, A.2    Rubtsov, P.3    Sverdlova, P.4    Peterkova, V.5    Yakar, S.6
  • 14
    • 23844528772 scopus 로고    scopus 로고
    • Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation
    • Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, et al. Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. J Clin Endocrinol Metab. 2005;90(8):4679-87.
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.8 , pp. 4679-4687
    • Kawashima, Y.1    Kanzaki, S.2    Yang, F.3    Kinoshita, T.4    Hanaki, K.5    Nagaishi, J.6
  • 15
    • 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, et al. 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(6):2264-71.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.6 , pp. 2264-2271
    • Raile, K.1    Klammt, J.2    Schneider, A.3    Keller, A.4    Laue, S.5    Smith, R.6
  • 16
    • 33747693108 scopus 로고    scopus 로고
    • A variable degree of intrau-terine and postnatal growth retardation in a family with a mis-sense mutation in the insulin-like growth factor I receptor
    • Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof M F, et al. A variable degree of intrau-terine and postnatal growth retardation in a family with a mis-sense mutation in the insulin-like growth factor I receptor. J Clin Endocrinol Metab. 2006;91(8):3062-70.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.8 , pp. 3062-3070
    • Walenkamp, M.J.1    van-der Kamp, H.J.2    Pereira, A.M.3    Kant, S.G.4    van Duyvenvoorde, H.A.5    Kruithof, M.F.6
  • 17
    • 77749267586 scopus 로고    scopus 로고
    • Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intraute-rine and postnatal growth retardation
    • Kruis T, Klammt J, Galli-Tsinopoulou A, Wallborn T, Schlicke M, Muller E, et al. Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intraute-rine and postnatal growth retardation. J Clin Endocrinol Metab. 2010;95(3):1137-42.
    • (2010) J Clin Endocrinol Metab , vol.95 , Issue.3 , pp. 1137-1142
    • Kruis, T.1    Klammt, J.2    Galli-Tsinopoulou, A.3    Wallborn, T.4    Schlicke, M.5    Muller, E.6
  • 18
    • 77952755454 scopus 로고    scopus 로고
    • A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplas-mic reticulum and results in intrauterine and postnatal growth retardation
    • Wallborn T, Wuller S, Klammt J, Kruis T, Kratzsch J, Schmidt G, et al. A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplas-mic reticulum and results in intrauterine and postnatal growth retardation. J Clin Endocrinol Metab. 2010;95(5):2316-24.
    • (2010) J Clin Endocrinol Metab , vol.95 , Issue.5 , pp. 2316-2324
    • Wallborn, T.1    Wuller, S.2    Klammt, J.3    Kruis, T.4    Kratzsch, J.5    Schmidt, G.6
  • 19
    • 0034978399 scopus 로고    scopus 로고
    • The three dimensional structure of the type I insulin-like growth factor receptor
    • Ward CW, Garrett T P, McKern NM, Lou M, Cosgrove LJ, Sparrow LG, et al. The three dimensional structure of the type I insulin-like growth factor receptor. Mol Pathol. 2001;54(3):125-32.
    • (2001) Mol Pathol , vol.54 , Issue.3 , pp. 125-132
    • Ward, C.W.1    Garrett, T.P.2    McKern, N.M.3    Lou, M.4    Cosgrove, L.J.5    Sparrow, L.G.6
  • 20
    • 0033906634 scopus 로고    scopus 로고
    • Structure and function of the type 1 insulin-like growth factor receptor
    • Adams TE, Epa VC, Garrett T P, Ward CW. Structure and function of the type 1 insulin-like growth factor receptor. Cell Mol Life Sci. 2000;57(7):1050-93.
    • (2000) Cell Mol Life Sci , vol.57 , Issue.7 , pp. 1050-1093
    • Adams, T.E.1    Epa, V.C.2    Garrett, T.P.3    Ward, C.W.4
  • 21
    • 0035719947 scopus 로고    scopus 로고
    • Distinct and overlapping functions of insulin and IGF-I receptors
    • Nakae J, Kido Y, Accili D. Distinct and overlapping functions of insulin and IGF-I receptors. Endocrine Rev. 2001;22(6):818-35.
    • (2001) Endocrine Rev , vol.22 , Issue.6 , pp. 818-835
    • Nakae, J.1    Kido, Y.2    Accili, D.3
  • 23
    • 0035742583 scopus 로고    scopus 로고
    • Insulin and insulin-like growth factor I receptors: Similarities and differences in signal transduction
    • Dupont J. Insulin and insulin-like growth factor I receptors: similarities and differences in signal transduction. J Horm Res. 2001;55:22-6.
    • (2001) J Horm Res , vol.55 , pp. 22-26
    • Dupont, J.1
  • 24
    • 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 J P, 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(1):59-72.
    • (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
  • 25
    • 85047682715 scopus 로고    scopus 로고
    • Minireview: Tissue-specifc versus generalized gene targeting of the igf1 and igf1r genes and their roles in insulin-like growth factor physiology
    • Butler AA, LeRoith D. Minireview: tissue-specifc versus generalized gene targeting of the igf1 and igf1r genes and their roles in insulin-like growth factor physiology. Endocrinology. 2001;142(5):1685-8.
    • (2001) Endocrinology , vol.142 , Issue.5 , pp. 1685-1688
    • Butler, A.A.1    Leroith, D.2
  • 26
    • 13344277357 scopus 로고    scopus 로고
    • Early neonatal death in mice homozygous for a null allele of the insulin receptor gene
    • Accili D, Drago J, Lee EJ, Johnson MD, Cool MH, Salvatore P, et al. Early neonatal death in mice homozygous for a null allele of the insulin receptor gene. Nat Genet. 1996;12(1):106-9.
    • (1996) Nat Genet , vol.12 , Issue.1 , pp. 106-109
    • Accili, D.1    Drago, J.2    Lee, E.J.3    Johnson, M.D.4    Cool, M.H.5    Salvatore, P.6
  • 27
    • 0025320906 scopus 로고
    • A growth-defciency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting
    • DeChiara TM, Efstratiadis A, Robertson EJ. A growth-defciency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature. 1990;345(6270):78-80.
    • (1990) Nature , vol.345 , Issue.6270 , pp. 78-80
    • Dechiara, T.M.1    Efstratiadis, A.2    Robertson, E.J.3
  • 29
    • 0029879127 scopus 로고    scopus 로고
    • Targeted disruption of the insulin receptor gene in the mouse results in neonatal lethality
    • Joshi RL, Lamothe B, Cordonnier N, Mesbah K, Monthioux E, Jami J, et al. Targeted disruption of the insulin receptor gene in the mouse results in neonatal lethality. Embo J. 1996;15(7):1542-7.
    • (1996) Embo J , vol.15 , Issue.7 , pp. 1542-1547
    • Joshi, R.L.1    Lamothe, B.2    Cordonnier, N.3    Mesbah, K.4    Monthioux, E.5    Jami, J.6
  • 30
    • 18544407572 scopus 로고    scopus 로고
    • Restored insulin-sensitivity in IRS-1-defcient mice treated by adenovirus-mediated gene therapy
    • Ueki K, Yamauchi T, Tamemoto H, Tobe K, Yamamoto-Honda R, Kaburagi Y, et al. Restored insulin-sensitivity in IRS-1-defcient mice treated by adenovirus-mediated gene therapy. J Clin Invest. 2000;105(10):1437-45.
    • (2000) J Clin Invest , vol.105 , Issue.10 , pp. 1437-1445
    • Ueki, K.1    Yamauchi, T.2    Tamemoto, H.3    Tobe, K.4    Yamamoto-Honda, R.5    Kaburagi, Y.6
  • 31
    • 12344335482 scopus 로고    scopus 로고
    • Long-lived growth hormone receptor knockout mice: Interaction of reduced IGF-1/insulin signaling and caloric restriction
    • Epub 2004 Oct 21
    • Al-Regaiey KA, Masternak MM, Bonkowski M, Sun L, Bartke A. Long-lived growth hormone receptor knockout mice: interaction of reduced IGF-1/insulin signaling and caloric restriction. Endocrinology. 2005;146(2):851-60. Epub 2004 Oct 21.
    • (2005) Endocrinology , vol.146 , Issue.2 , pp. 851-860
    • Al-Regaiey, K.A.1    Masternak, M.M.2    Bonkowski, M.3    Sun, L.4    Bartke, A.5
  • 32
    • 77749267586 scopus 로고    scopus 로고
    • Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intraute-rine and postnatal growth retardation
    • Kruis T, Klammt J, Galli-Tsinopoulou A, Wallborn T, Schlicke M, Muller E, et al. Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intraute-rine and postnatal growth retardation. J Clin Endocrinol Metab. 2010;95(3):1137-42.
    • (2010) J Clin Endocrinol Metab , vol.95 , Issue.3 , pp. 1137-1142
    • Kruis, T.1    Klammt, J.2    Galli-Tsinopoulou, A.3    Wallborn, T.4    Schlicke, M.5    Muller, E.6
  • 33
    • 77952755454 scopus 로고    scopus 로고
    • A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplas-mic reticulum and results in intrauterine and postnatal growth retardation
    • Wallborn T, Wuller S, Klammt J, Kruis T, Kratzsch J, Schmidt G, et al. A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplas-mic reticulum and results in intrauterine and postnatal growth retardation. J Clin Endocrinol Metab. 2010;95(5):2316-24.
    • (2010) J Clin Endocrinol Metab , vol.95 , Issue.5 , pp. 2316-2324
    • Wallborn, T.1    Wuller, S.2    Klammt, J.3    Kruis, T.4    Kratzsch, J.5    Schmidt, G.6
  • 34
    • 66149093914 scopus 로고    scopus 로고
    • Familial short stature caused by haploinsuffciency 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 Jr, Hwa V, et al. Familial short stature caused by haploinsuffciency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay. J Clin Endocrinol Metab. 2009;94(5):1740-7.
    • (2009) J Clin Endocrinol Metab , vol.94 , Issue.5 , pp. 1740-1747
    • Fang, P.1    Schwartz, I.D.2    Johnson, B.D.3    Derr, M.A.4    Roberts Jr., C.T.5    Hwa, V.6
  • 35
    • 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, Pfaeffe 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(2):136-43.
    • (2011) Horm Res Paediatr , vol.76 , Issue.2 , pp. 136-143
    • Mohn, A.1    Marcovecchio, M.L.2    de Giorgis, T.3    Pfaeffe, R.4    Chiarelli, F.5    Kiess, W.6
  • 36
    • 34147115812 scopus 로고    scopus 로고
    • A Familial insulin-like growth factor-I receptor mutant leads to short stature: Clinical and biochemical characterization
    • Inagaki K. A Familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. J Clin Endocrinol Metab. 2007;92(4):1542-8.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.4 , pp. 1542-1548
    • Inagaki, K.1
  • 37
    • 34147144573 scopus 로고    scopus 로고
    • Normal growth spurt and fnal height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit defciency
    • Domene HM, Martinez AS, Frystyk J, Bengolea SV, Ropelato MG, Scaglia PA, et al. Normal growth spurt and fnal height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit defciency. Horm Res. 2007;67(5):243-9.
    • (2007) Horm Res , vol.67 , Issue.5 , pp. 243-249
    • Domene, H.M.1    Martinez, A.S.2    Frystyk, J.3    Bengolea, S.V.4    Ropelato, M.G.5    Scaglia, P.A.6
  • 38
    • 58749110907 scopus 로고    scopus 로고
    • Cognition in the adult with childhood-onset GH defciency
    • SUPPL
    • van Nieuwpoort IC, Drent ML. Cognition in the adult with childhood-onset GH defciency. Eur J Endocrinol. 2008;159(Suppl 1):S53-S7.
    • (2008) Eur J Endocrinol , vol.159 , Issue.1
    • van Nieuwpoort, I.C.1    Drent, M.L.2
  • 39
    • 0034458337 scopus 로고    scopus 로고
    • Effects of insulin-like growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion
    • Woods KA, Camacho-Hubner C, Bergman RN, Barter D, Clark AJ, Savage MO. Effects of insulin-like growth factor I (IGF-I) therapy on body composition and insulin resistance in IGF-I gene deletion. J Clin Endocrinol Metab. 2000;85(4):1407-11.
    • (2000) J Clin Endocrinol Metab , vol.85 , Issue.4 , pp. 1407-1411
    • Woods, K.A.1    Camacho-Hubner, C.2    Bergman, R.N.3    Barter, D.4    Clark, A.J.5    Savage, M.O.6
  • 40
    • 3142754168 scopus 로고    scopus 로고
    • Insulin sensitivity and secretion in normal children related to size at birth, postnatal growth, and plasma insulin-like growth factor-I levels
    • Ong KK, Petry CJ, Emmett PM, Sandhu MS, Kiess W, Hales CN, et al. Insulin sensitivity and secretion in normal children related to size at birth, postnatal growth, and plasma insulin-like growth factor-I levels. Diabetologia. 2004;47(6):1064-70.
    • (2004) Diabetologia , vol.47 , Issue.6 , pp. 1064-1070
    • Ong, K.K.1    Petry, C.J.2    Emmett, P.M.3    Sandhu, M.S.4    Kiess, W.5    Hales, C.N.6
  • 41
    • 46449087037 scopus 로고    scopus 로고
    • Effect of in utero and early-life conditions on adult health and disease
    • Gluckman PD, Hanson MA, Cooper C, Thornburg KL. Effect of in utero and early-life conditions on adult health and disease. N Engl J Med. 2008;359(1):61-73.
    • (2008) N Engl J Med , vol.359 , Issue.1 , pp. 61-73
    • Gluckman, P.D.1    Hanson, M.A.2    Cooper, C.3    Thornburg, K.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.