메뉴 건너뛰기




Volumn 25, Issue 1, 2011, Pages 191-206

IGF1R mutations as cause of SGA

Author keywords

IGF type 1 receptor; IGF1 resistance; IGF1R; SGA; small for gestational age

Indexed keywords

PROTEIN TYROSINE KINASE; SOMATOMEDIN RECEPTOR; SOMATOMEDIN RECEPTOR 1; UNCLASSIFIED DRUG;

EID: 79952505486     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2010.09.012     Document Type: Review
Times cited : (83)

References (91)
  • 1
    • 0021320117 scopus 로고
    • Somatomedin/insulin-like growth factor tissue receptors
    • S.P. Nissley, and M.M. Rechler Somatomedin/insulin-like growth factor tissue receptors Clinics in Endocrinology and Metabolism 13 1984 43 67 (Pubitemid 14141810)
    • (1984) Clinics in Endocrinology and Metabolism , vol.13 , Issue.1 , pp. 43-67
    • Nissley, S.P.1    Rechler, M.M.2
  • 2
    • 0022800838 scopus 로고
    • Insulin-like growth factor i receptor primary structure: Comparison with insulin receptor suggests structural determinants that define functional specificity
    • A. Ullrich, A. Gray, and A.W. Tam Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity The EMBO Journal 5 1986 2503 2512
    • (1986) The EMBO Journal , vol.5 , pp. 2503-2512
    • Ullrich, A.1    Gray, A.2    Tam, A.W.3
  • 4
    • 77950290799 scopus 로고    scopus 로고
    • Minireview: Posttranscriptional regulation of the insulin and insulin-like growth factor systems
    • E.K. Lee, and M. Gorospe Minireview: posttranscriptional regulation of the insulin and insulin-like growth factor systems Endocrinology 151 2010 1403 1408
    • (2010) Endocrinology , vol.151 , pp. 1403-1408
    • Lee, E.K.1    Gorospe, M.2
  • 5
    • 0036184609 scopus 로고    scopus 로고
    • Growth factor expression and function in the human and mouse preimplantation embryo
    • DOI 10.1677/joe.0.1720221
    • K. Hardy, and S. Spanos Growth factor expression and function in the human and mouse preimplantation embryo The Journal of Endocrinology 172 2002 221 236 (Pubitemid 34183071)
    • (2002) Journal of Endocrinology , vol.172 , Issue.2 , pp. 221-236
    • Hardy, K.1    Spanos, S.2
  • 7
    • 33746051671 scopus 로고    scopus 로고
    • The insulin-like growth factor-I receptor gene: A downstream target for oncogene and tumor suppressor action
    • DOI 10.1016/j.tem.2006.06.007, PII S1043276006001044
    • H. Werner, and S. Maor The insulin-like growth factor-I receptor gene: a downstream target for oncogene and tumor suppressor action Trends in Endocrinology and Metabolism: TEM 17 2006 236 242 (Pubitemid 44080616)
    • (2006) Trends in Endocrinology and Metabolism , vol.17 , Issue.6 , pp. 236-242
    • Werner, H.1    Maor, S.2
  • 8
    • 0030443672 scopus 로고    scopus 로고
    • Control of insulin-like growth factor (IGF) action by regulation of IGF-I receptor expression
    • C.T. Roberts Jr. Control of insulin-like growth factor (IGF) action by regulation of IGF-I receptor expression Endocrine Journal 43 Suppl 1996 S49 S55
    • (1996) Endocrine Journal , vol.43 , Issue.SUPPL.
    • Roberts, Jr.C.T.1
  • 9
    • 44649147805 scopus 로고    scopus 로고
    • Evolution of the insulin receptor family and receptor isoform expression in vertebrates
    • C. Hernandez-Sanchez, A. Mansilla, and F. de Pablo Evolution of the insulin receptor family and receptor isoform expression in vertebrates Molecular Biology and Evolution 25 2008 1043 1053
    • (2008) Molecular Biology and Evolution , vol.25 , pp. 1043-1053
    • Hernandez-Sanchez, C.1    Mansilla, A.2    De Pablo, F.3
  • 12
    • 0031965186 scopus 로고    scopus 로고
    • Structure and function of the insulin-like growth factor I receptor
    • DOI 10.1023/A:1005955017615
    • L. Sepp-Lorenzino Structure and function of the insulin-like growth factor I receptor Breast Cancer Research and Treatment 47 1998 235 253 (Pubitemid 28059820)
    • (1998) Breast Cancer Research and Treatment , vol.47 , Issue.3 , pp. 235-253
    • Sepp-Lorenzino, L.1
  • 13
    • 0024845651 scopus 로고
    • Identification of an alternate type I insulin-like growth factor receptor β subunit mRNA transcript
    • D. Yee, G.S. Lebovic, and R.R. Marcus Identification of an alternate type I insulin-like growth factor receptor beta subunit mRNA transcript The Journal of Biological Chemistry 264 1989 21439 21441 (Pubitemid 20028695)
    • (1989) Journal of Biological Chemistry , vol.264 , Issue.36 , pp. 21439-21441
    • Yee, D.1    Lebovic, G.S.2    Marcus, R.R.3    Rosen, N.4
  • 14
    • 0028244050 scopus 로고
    • Two alternatively spliced forms of the human insulin-like growth factor I receptor have distinct biological activities and internalization kinetics
    • G. Condorelli, R. Bueno, and R.J. Smith Two alternatively spliced forms of the human insulin-like growth factor I receptor have distinct biological activities and internalization kinetics The Journal of Biological Chemistry 269 1994 8510 8516 (Pubitemid 24200276)
    • (1994) Journal of Biological Chemistry , vol.269 , Issue.11 , pp. 8510-8516
    • Condorelli, G.1    Bueno, R.2    Smith, R.J.3
  • 15
    • 0022427785 scopus 로고
    • Two types of receptor for insulin-like growth factors in mammalian brain
    • S. Gammeltoft, G.K. Haselbacher, and R.E. Humbel Two types of receptor for insulin-like growth factors in mammalian brain The EMBO Journal 4 1985 3407 3412
    • (1985) The EMBO Journal , vol.4 , pp. 3407-3412
    • Gammeltoft, S.1    Haselbacher, G.K.2    Humbel, R.E.3
  • 16
    • 33746304547 scopus 로고    scopus 로고
    • Characterisation of insulin-like growth factor receptors and insulin receptors in the human placenta using lectin affinity methods
    • DOI 10.1016/j.ghir.2006.04.001, PII S1096637406000451
    • R. Masnikosa, I. Baricevic, and D.R. Jones Characterisation of insulin-like growth factor receptors and insulin receptors in the human placenta using lectin affinity methods Growth Hormone & IGF Research 16 2006 174 184 (Pubitemid 44103480)
    • (2006) Growth Hormone and IGF Research , vol.16 , Issue.3 , pp. 174-184
    • Masnikosa, R.1    Baricevic, I.2    Jones, D.R.3    Nedic, O.4
  • 17
    • 46849107156 scopus 로고    scopus 로고
    • The atypical α2β2 IGF receptor expressed in inducible c2.7 myoblasts is derived from post-translational modifications of the mouse IGF-I receptor
    • DOI 10.1016/j.ghir.2008.03.001, PII S1096637408000415
    • M. Navarro, D. Joulia, and Y. Fedon The atypical alpha2beta2 IGF receptor expressed in inducible c2.7 myoblasts is derived from post-translational modifications of the mouse IGF-I receptor Growth Hormone & IGF Research 18 2008 412 423 (Pubitemid 351952763)
    • (2008) Growth Hormone and IGF Research , vol.18 , Issue.5 , pp. 412-423
    • Navarro, M.1    Joulia, D.2    Fedon, Y.3    Levin, J.4    Barenton, B.5    Bernardi, H.6
  • 18
    • 0036782071 scopus 로고    scopus 로고
    • Structural biology of insulin and IGF1 receptors: Implications for drug design
    • DOI 10.1038/nrd917
    • P. De Meyts, and J. Whittaker Structural biology of insulin and IGF1 receptors: implications for drug design Nature Reviews. Drug Discovery 1 2002 769 783 (Pubitemid 37361561)
    • (2002) Nature Reviews Drug Discovery , vol.1 , Issue.10 , pp. 769-783
    • De Meyts, P.1    Whittaker, J.2
  • 19
    • 77954387357 scopus 로고    scopus 로고
    • All-atom structural models for complexes of insulin-like growth factors IGF1 and IGF2 with their cognate receptor
    • H. Vashisth, and C.F. Abrams All-atom structural models for complexes of insulin-like growth factors IGF1 and IGF2 with their cognate receptor Journal of Molecular Biology 400 2010 645 658
    • (2010) Journal of Molecular Biology , vol.400 , pp. 645-658
    • Vashisth, H.1    Abrams, C.F.2
  • 20
    • 0026649499 scopus 로고
    • Preferential binding of insulin-like growth factor-II (IGF-II) to a putative alpha 2 beta 2 IGF-II receptor type in C2 myoblasts
    • A. Domeyne, C. Pinset, and D. Montarras Preferential binding of insulin-like growth factor-II (IGF-II) to a putative alpha 2 beta 2 IGF-II receptor type in C2 myoblasts European Journal of Biochemistry 208 1992 273 279
    • (1992) European Journal of Biochemistry , vol.208 , pp. 273-279
    • Domeyne, A.1    Pinset, C.2    Montarras, D.3
  • 21
    • 70849120946 scopus 로고    scopus 로고
    • Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease
    • A. Belfiore, F. Frasca, and G. Pandini Insulin receptor isoforms and insulin receptor/insulin-like growth factor receptor hybrids in physiology and disease Endocrine Reviews 30 2009 586 623
    • (2009) Endocrine Reviews , vol.30 , pp. 586-623
    • Belfiore, A.1    Frasca, F.2    Pandini, G.3
  • 22
    • 0036550234 scopus 로고    scopus 로고
    • Signalling through IGF-I and insulin receptors: Where is the specificity?
    • DOI 10.1054/ghir.2002.0265
    • J.J. Kim, and D. Accili Signalling through IGF-I and insulin receptors: where is the specificity? Growth Hormone & IGF Research 12 2002 84 90 (Pubitemid 37337006)
    • (2002) Growth Hormone and IGF Research , vol.12 , Issue.2 , pp. 84-90
    • Kim, J.J.1    Accili, D.2
  • 23
    • 47249134315 scopus 로고    scopus 로고
    • IGF signaling defects as causes of growth failure and IUGR
    • DOI 10.1016/j.tem.2008.03.003, PII S1043276008000805
    • J. Klammt, R. Pfaffle, and H. Werner IGF signaling defects as causes of growth failure and IUGR Trends in Endocrinology and Metabolism: TEM 19 2008 197 205 (Pubitemid 351993012)
    • (2008) Trends in Endocrinology and Metabolism , vol.19 , Issue.6 , pp. 197-205
    • Klammt, J.1    Pfaffle, R.2    Werner, H.3    Kiess, W.4
  • 24
    • 0036551775 scopus 로고    scopus 로고
    • Mutant mouse models of insulin-like growth factor actions in the central nervous system
    • A.J. D'Ercole, P. Ye, and J.R. O'Kusky Mutant mouse models of insulin-like growth factor actions in the central nervous system Neuropeptides 36 2002 209 220
    • (2002) Neuropeptides , vol.36 , pp. 209-220
    • D'Ercole, A.J.1    Ye, P.2    O'Kusky, J.R.3
  • 25
    • 49549111375 scopus 로고    scopus 로고
    • Growth hormone, insulin-like growth factors, and the skeleton
    • A. Giustina, G. Mazziotti, and E. Canalis Growth hormone, insulin-like growth factors, and the skeleton Endocrine Reviews 29 2008 535 559
    • (2008) Endocrine Reviews , vol.29 , pp. 535-559
    • Giustina, A.1    Mazziotti, G.2    Canalis, E.3
  • 26
    • 77953356748 scopus 로고    scopus 로고
    • Insulin-like growth factors (IGFs), IGF receptors, and IGF-binding proteins: Roles in skeletal muscle growth and differentiation
    • C. Duan, H. Ren, and S. Gao Insulin-like growth factors (IGFs), IGF receptors, and IGF-binding proteins: roles in skeletal muscle growth and differentiation General and Comparative Endocrinology 167 2010 344 351
    • (2010) General and Comparative Endocrinology , vol.167 , pp. 344-351
    • Duan, C.1    Ren, H.2    Gao, S.3
  • 27
    • 24744434956 scopus 로고    scopus 로고
    • New insights into the roles of insulin/IGF-I in the development and maintenance of β-cell mass
    • DOI 10.1007/s11154-005-3051-y
    • R.N. Kulkarni New insights into the roles of insulin/IGF-I in the development and maintenance of beta-cell mass Reviews in Endocrine & Metabolic Disorders 6 2005 199 210 (Pubitemid 41288281)
    • (2005) Reviews in Endocrine and Metabolic Disorders , vol.6 , Issue.3 , pp. 199-210
    • Kulkarni, R.N.1
  • 28
    • 0027423419 scopus 로고
    • Role of insulin-like growth factors in embryonic and postnatal growth
    • DOI 10.1016/0092-8674(93)90680-O
    • J. Baker, J.P. Liu, and E.J. Robertson Role of insulin-like growth factors in embryonic and postnatal growth Cell 75 1993 73 82 (Pubitemid 23306022)
    • (1993) Cell , vol.75 , Issue.1 , pp. 73-82
    • Baker, J.1    Liu, J.-P.2    Robertson, E.J.3    Efstratiadis, A.4
  • 29
    • 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
    • J.P. Liu, J. Baker, and A.S. Perkins Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r) Cell 75 1993 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
  • 31
    • 0026088502 scopus 로고
    • An infant with deletion of the distal long arm of chromosome 15 (q26.1-qter) and loss of insulin-like growth factor 1 receptor gene
    • E.W. Roback, A.J. Barakat, and V.G. Dev An infant with deletion of the distal long arm of chromosome 15 (q26.1-qter) and loss of insulin-like growth factor 1 receptor gene American Journal of Medical Genetics 38 1991 74 79
    • (1991) American Journal of Medical Genetics , vol.38 , pp. 74-79
    • Roback, E.W.1    Barakat, A.J.2    Dev, V.G.3
  • 32
    • 66149093914 scopus 로고    scopus 로고
    • Familial short stature caused by haploinsufficiency of the insulin-like growth factor 1 receptor due to nonsense-mediated mRNA decay
    • P. Fang, I.D. Schwartz, and B.D. Johnson Familial short stature caused by haploinsufficiency of the insulin-like growth factor 1 receptor due to nonsense-mediated mRNA decay The Journal of Clinical Endocrinology and Metabolism 94 2009 1740 1747
    • (2009) The Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 1740-1747
    • Fang, P.1    Schwartz, I.D.2    Johnson, B.D.3
  • 35
    • 77749267586 scopus 로고    scopus 로고
    • Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor i receptor causes intrauterine and postnatal growth retardation
    • T. Kruis, J. Klammt, and A. Galli-Tsinopoulou Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor i receptor causes intrauterine and postnatal growth retardation The Journal of Clinical Endocrinology and Metabolism 95 2010 1137 1142
    • (2010) The Journal of Clinical Endocrinology and Metabolism , vol.95 , pp. 1137-1142
    • Kruis, T.1    Klammt, J.2    Galli-Tsinopoulou, A.3
  • 37
    • 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
    • T. Wallborn, S. Wuller, and J. Klammt 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 The Journal of Clinical Endocrinology and Metabolism 95 2010 2316 2324
    • (2010) The Journal of Clinical Endocrinology and Metabolism , vol.95 , pp. 2316-2324
    • Wallborn, T.1    Wuller, S.2    Klammt, J.3
  • 38
    • 34547623918 scopus 로고    scopus 로고
    • Quality control of eukaryotic mRNA: Safeguarding cells from abnormal mRNA function
    • DOI 10.1101/gad.1566807
    • O. Isken, and L.E. Maquat Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function Genes & Development 21 2007 1833 1856 (Pubitemid 47204924)
    • (2007) Genes and Development , vol.21 , Issue.15 , pp. 1833-1856
    • Isken, O.1    Maquat, L.E.2
  • 39
    • 77952073507 scopus 로고    scopus 로고
    • The human IGF1R IRES likely operates through a Shine-Dalgarno-like interaction with the G961 loop (E-site) of the 18S rRNA and is kinetically modulated by a naturally polymorphic polyU loop
    • Z. Meng, N.L. Jackson, and O.D. Shcherbakov The human IGF1R IRES likely operates through a Shine-Dalgarno-like interaction with the G961 loop (E-site) of the 18S rRNA and is kinetically modulated by a naturally polymorphic polyU loop Journal of Cellular Biochemistry 110 2010 531 544
    • (2010) Journal of Cellular Biochemistry , vol.110 , pp. 531-544
    • Meng, Z.1    Jackson, N.L.2    Shcherbakov, O.D.3
  • 40
    • 77949811343 scopus 로고    scopus 로고
    • Nonsense-mediated RNA decay regulation by cellular stress: Implications for tumorigenesis
    • L.B. Gardner Nonsense-mediated RNA decay regulation by cellular stress: implications for tumorigenesis Molecular Cancer Research 8 2010 295 308
    • (2010) Molecular Cancer Research , vol.8 , pp. 295-308
    • Gardner, L.B.1
  • 41
    • 0036791359 scopus 로고    scopus 로고
    • Furin at the cutting edge: From protein traffic to embryogenesis and disease
    • G. Thomas Furin at the cutting edge: from protein traffic to embryogenesis and disease Nature Reviews. Molecular Cell Biology 3 2002 753 766
    • (2002) Nature Reviews. Molecular Cell Biology , vol.3 , pp. 753-766
    • Thomas, G.1
  • 42
    • 85064188648 scopus 로고    scopus 로고
    • Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor
    • San Diego
    • Fang P, Cho YH, Derr MA et al. Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor. In: 92nd Annual Meeting of the Endocrine Society, San Diego. 2010; p. P1-P664.
    • (2010) 92nd Annual Meeting of the Endocrine Society
    • Fang, P.1    Cho, Y.H.2    Ma, D.3
  • 44
    • 0034793734 scopus 로고    scopus 로고
    • Crystal structure of bisphosphorylated igf-1 receptor kinase: Insight into domain movements upon kinase activation
    • DOI 10.1016/S0969-2126(01)00655-4, PII S0969212601006554
    • A. Pautsch, A. Zoephel, and H. Ahorn Crystal structure of bisphosphorylated IGF-1 receptor kinase: insight into domain movements upon kinase activation Structure 9 2001 955 965 (Pubitemid 32972161)
    • (2001) Structure , vol.9 , Issue.10 , pp. 955-965
    • Pautsch, A.1    Zoephel, A.2    Ahorn, H.3    Spevak, W.4    Hauptmann, R.5    Nar, H.6
  • 45
    • 47949113688 scopus 로고    scopus 로고
    • Small-molecule inhibition and activation-loop trans-phosphorylation of the IGF1 receptor
    • J. Wu, W. Li, and B.P. Craddock Small-molecule inhibition and activation-loop trans-phosphorylation of the IGF1 receptor The EMBO Journal 27 2008 1985 1994
    • (2008) The EMBO Journal , vol.27 , pp. 1985-1994
    • Wu, J.1    Li, W.2    Craddock, B.P.3
  • 46
    • 0035185571 scopus 로고    scopus 로고
    • Structure and autoregulation of the insulin-like growth factor 1 receptor kinase
    • DOI 10.1038/nsb721
    • S. Favelyukis, J.H. Till, and S.R. Hubbard Structure and autoregulation of the insulin-like growth factor 1 receptor kinase Nature Structural Biology 8 2001 1058 1063 (Pubitemid 33101627)
    • (2001) Nature Structural Biology , vol.8 , Issue.12 , pp. 1058-1063
    • Favelyukis, S.1    Till, J.H.2    Hubbard, S.R.3    Miller, W.T.4
  • 47
    • 0030766163 scopus 로고    scopus 로고
    • Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog
    • DOI 10.1093/emboj/16.18.5572
    • S.R. Hubbard Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog The EMBO Journal 16 1997 5572 5581 (Pubitemid 27399849)
    • (1997) EMBO Journal , vol.16 , Issue.18 , pp. 5572-5581
    • Hubbard, S.R.1
  • 53
    • 38449100510 scopus 로고    scopus 로고
    • Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature
    • M. Klaassens, R.J. Galjaard, and D.A. Scott Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature American Journal of Medical Genetics A 143A 2007 2204 2212
    • (2007) American Journal of Medical Genetics A , vol.143 , pp. 2204-2212
    • Klaassens, M.1    Galjaard, R.J.2    Scott, D.A.3
  • 54
    • 39349116291 scopus 로고    scopus 로고
    • Array based characterization of a terminal deletion involving chromosome subband 15q26.2: An emerging syndrome associated with growth retardation, cardiac defects and developmental delay
    • J. Davidsson, A. Collin, and G. Bjorkhem Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay BMC Medical Genetics 9 2008 1 8
    • (2008) BMC Medical Genetics , vol.9 , pp. 1-8
    • Davidsson, J.1    Collin, A.2    Bjorkhem, G.3
  • 55
    • 73249116872 scopus 로고    scopus 로고
    • Two Short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype
    • W.A. Ester, H.A. van Duyvenvoorde, and C.C. de Wit Two Short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype The Journal of Clinical Endocrinology and Metabolism 94 2009 4717 4727
    • (2009) The Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 4717-4727
    • Ester, W.A.1    Van Duyvenvoorde, H.A.2    De Wit, C.C.3
  • 56
    • 56749105955 scopus 로고    scopus 로고
    • Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
    • C. Gervasini, R. Pfundt, and P. Castronovo Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes Clinical Genetics 74 2008 531 538
    • (2008) Clinical Genetics , vol.74 , pp. 531-538
    • Gervasini, C.1    Pfundt, R.2    Castronovo, P.3
  • 58
    • 53949092756 scopus 로고    scopus 로고
    • Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)
    • P. Rump, T. Dijkhuizen, and B. Sikkema-Raddatz Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter) Clinical Genetics 74 2008 455 462
    • (2008) Clinical Genetics , vol.74 , pp. 455-462
    • Rump, P.1    Dijkhuizen, T.2    Sikkema-Raddatz, B.3
  • 60
    • 77956098192 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in a familial IGF1R microdeletion case
    • D.C. Veenma, H.J. Eussen, and L.C. Govaerts Phenotype-genotype correlation in a familial IGF1R microdeletion case Journal of Medical Genetics 47 2010 492 498
    • (2010) Journal of Medical Genetics , vol.47 , pp. 492-498
    • Veenma, D.C.1    Eussen, H.J.2    Govaerts, L.C.3
  • 61
    • 44449128229 scopus 로고    scopus 로고
    • Polymorphisms in the IGF1 and IGF1R genes and children born small for gestational age: results of large population studies
    • DOI 10.1016/j.beem.2008.03.001, PII S1521690X08000377
    • W.A. Ester, and A.C. Hokken-Koelega Polymorphisms in the IGF1 and IGF1R genes and children born small for gestational age: results of large population studies Best Practice & Research. Clinical Endocrinology & Metabolism 22 2008 415 431 (Pubitemid 351761809)
    • (2008) Best Practice and Research: Clinical Endocrinology and Metabolism , vol.22 , Issue.3 , pp. 415-431
    • Ester, W.A.1    Hokken-Koelega, A.C.S.2
  • 63
    • 75449102180 scopus 로고    scopus 로고
    • Mutation analysis of the growth factor genes PlGF, Flt1, IGF-I, and IGF-IR in intrauterine growth restriction with abnormal placental blood flow
    • S. Muetze, A. Kapagerof, and L. Vlachopoulos Mutation analysis of the growth factor genes PlGF, Flt1, IGF-I, and IGF-IR in intrauterine growth restriction with abnormal placental blood flow The Journal of Maternal-Fetal & Neonatal Medicine 23 2010 142 147
    • (2010) The Journal of Maternal-Fetal & Neonatal Medicine , vol.23 , pp. 142-147
    • Muetze, S.1    Kapagerof, A.2    Vlachopoulos, L.3
  • 65
    • 0037470488 scopus 로고    scopus 로고
    • Evolutionary medicine: From dwarf model systems to healthy centenarians?
    • DOI 10.1126/science.1077991
    • V.D. Longo, and C.E. Finch Evolutionary medicine: from dwarf model systems to healthy centenarians? Science 299 2003 1342 1346 (Pubitemid 36254638)
    • (2003) Science , vol.299 , Issue.5611 , pp. 1342-1346
    • Longo, V.D.1    Finch, C.E.2
  • 67
    • 68949172207 scopus 로고    scopus 로고
    • Genetic regulation of adult stature
    • G. Lettre Genetic regulation of adult stature Current Opinion in Pediatrics 21 2009 515 522
    • (2009) Current Opinion in Pediatrics , vol.21 , pp. 515-522
    • Lettre, G.1
  • 68
    • 77952469210 scopus 로고    scopus 로고
    • Role of genetic variation in insulin-like growth factor 1 receptor on insulin resistance and arterial hypertension
    • S. Sookoian, T.F. Gianotti, and C. Gemma Role of genetic variation in insulin-like growth factor 1 receptor on insulin resistance and arterial hypertension Journal of Hypertension 28 2010 1194 1202
    • (2010) Journal of Hypertension , vol.28 , pp. 1194-1202
    • Sookoian, S.1    Gianotti, T.F.2    Gemma, C.3
  • 70
    • 37349081918 scopus 로고    scopus 로고
    • Relationships between the insulin-like growth factor I (IGF-I) receptor gene G3174A polymorphism, serum IGF-I levels, and bone mineral density in postmenopausal Korean women
    • DOI 10.1007/s00774-007-0795-3
    • D.O. Lee, B.C. Jee, and S.Y. Ku Relationships between the insulin-like growth factor I (IGF-I) receptor gene G3174A polymorphism, serum IGF-I levels, and bone mineral density in postmenopausal Korean women Journal of Bone and Mineral Metabolism 26 2008 42 46 (Pubitemid 350308008)
    • (2008) Journal of Bone and Mineral Metabolism , vol.26 , Issue.1 , pp. 42-46
    • Lee, D.O.1    Jee, B.C.2    Ku, S.-Y.3    Suh, C.S.4    Kim, S.H.5    Choi, Y.M.6    Moon, S.Y.7    Kim, J.G.8
  • 71
    • 34547655600 scopus 로고    scopus 로고
    • Association of the GAA1013→GAG polymorphism of the insulin-like growth factor-1 receptor (IGF1R) gene with premature pubarche
    • DOI 10.1016/j.fertnstert.2006.11.126, PII S0015028206046723
    • M.B. Roldan, C. White, and S.F. Witchel Association of the GAA1013→GAG polymorphism of the insulin-like growth factor-1 receptor (IGF1R) gene with premature pubarche Fertility and Sterility 88 2007 410 417 (Pubitemid 47212146)
    • (2007) Fertility and Sterility , vol.88 , Issue.2 , pp. 410-417
    • Roldan, M.B.1    White, C.2    Witchel, S.F.3
  • 72
    • 33747586761 scopus 로고    scopus 로고
    • Association of polymorphisms of IGF1R and genes in the transforming growth factor-β/bone morphogenetic protein pathway with bacteremia in sickle cell anemia
    • DOI 10.1086/506356
    • A.H. Adewoye, V.G. Nolan, and Q. Ma Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta/bone morphogenetic protein pathway with bacteremia in sickle cell anemia Clinical Infectious Diseases 43 2006 593 598 (Pubitemid 44267118)
    • (2006) Clinical Infectious Diseases , vol.43 , Issue.5 , pp. 593-598
    • Adewoye, A.H.1    Nolan, V.G.2    Ma, Q.3    Baldwin, C.4    Wyszynski, D.F.5    Farrell, J.J.6    Farrer, L.A.7    Steinberg, M.H.8
  • 73
    • 77954691464 scopus 로고    scopus 로고
    • A unique case of a patient with partial trisomy 22 and lipodystrophy: Is it a new syndrome due to an IGF-IR mutation?
    • A.O. Caglayan, J. Klammt, and W. Kiess A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation? Genetic Counseling 21 2010 187 197
    • (2010) Genetic Counseling , vol.21 , pp. 187-197
    • Caglayan, A.O.1    Klammt, J.2    Kiess, W.3
  • 74
    • 57349130542 scopus 로고    scopus 로고
    • Expanding the mind: Insulin-like growth factor i and brain development
    • A.J. D'Ercole, and P. Ye Expanding the mind: insulin-like growth factor I and brain development Endocrinology 149 2008 5958 5962
    • (2008) Endocrinology , vol.149 , pp. 5958-5962
    • D'Ercole, A.J.1    Ye, P.2
  • 76
    • 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
    • K.A. Woods, C. Camacho-Hubner, and M.O. Savage Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene The New England Journal of Medicine 335 1996 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
  • 77
    • 70349898604 scopus 로고    scopus 로고
    • Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development
    • I. Netchine, S. Azzi, and M. Houang Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development The Journal of Clinical Endocrinology and Metabolism 94 2009 3913 3921
    • (2009) The Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 3913-3921
    • Netchine, I.1    Azzi, S.2    Houang, M.3
  • 78
    • 15244350991 scopus 로고    scopus 로고
    • Review of insulin and insulin-like growth factor expression, signaling, and malfunction in the central nervous system: Relevance to Alzheimer's disease
    • S.M. de la Monte, and J.R. Wands Review of insulin and insulin-like growth factor expression, signaling, and malfunction in the central nervous system: relevance to Alzheimer's disease Journal of Alzheimer's Disease 7 2005 45 61 (Pubitemid 40387184)
    • (2005) Journal of Alzheimer's Disease , vol.7 , Issue.1 , pp. 45-61
    • De La Monte, S.M.1    Wands, J.R.2
  • 79
    • 1642379156 scopus 로고    scopus 로고
    • Role of insulin-like growth factor I signaling in neurodegenerative diseases
    • DOI 10.1007/s00109-003-0499-7
    • J.L. Trejo, E. Carro, and E. Garcia-Galloway Role of insulin-like growth factor I signaling in neurodegenerative diseases Journal of Molecular Medicine 82 2004 156 162 (Pubitemid 38392165)
    • (2004) Journal of Molecular Medicine , vol.82 , Issue.3 , pp. 156-162
    • Trejo, J.L.1    Carro, E.2    Garcia-Galloway, E.3    Torres-Aleman, I.4
  • 81
    • 65549095726 scopus 로고    scopus 로고
    • The role of insulin-like growth factor-I and its binding proteins in glucose homeostasis and type 2 diabetes
    • S.N. Rajpathak, M.J. Gunter, and J. Wylie-Rosett The role of insulin-like growth factor-I and its binding proteins in glucose homeostasis and type 2 diabetes Diabetes/Metabolism Research and Reviews 25 2009 3 12
    • (2009) Diabetes/Metabolism Research and Reviews , vol.25 , pp. 3-12
    • Rajpathak, S.N.1    Gunter, M.J.2    Wylie-Rosett, J.3
  • 82
    • 14644408079 scopus 로고    scopus 로고
    • The growth hormone-insulin like growth factor axis revisited: Lessons from IGF-1 and IGF-1 receptor gene targeting
    • DOI 10.1007/s00467-004-1613-y, IPNA Seventh Symposium on Growth and Development in Children with Chronic Kidney Disease: The Molecular Basis of Skeletal
    • S. Yakar, H. Kim, and H. Zhao The growth hormone-insulin like growth factor axis revisited: lessons from IGF-1 and IGF-1 receptor gene targeting Pediatric Nephrology 20 2005 251 254 (Pubitemid 40309926)
    • (2005) Pediatric Nephrology , vol.20 , Issue.SPEC. ISS. 3 , pp. 251-254
    • Yakar, S.1    Kim, H.2    Zhao, H.3    Toyoshima, Y.4    Pennisi, P.5    Gavrilova, O.6    LeRoith, D.7
  • 85
    • 34447308215 scopus 로고    scopus 로고
    • Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in caucasian females
    • DOI 10.1093/humrep/dem052
    • J. Zhao, D.H. Xiong, and Y. Guo Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in caucasian females Human Reproduction 22 2007 1789 1794 (Pubitemid 47055172)
    • (2007) Human Reproduction , vol.22 , Issue.6 , pp. 1789-1794
    • Zhao, J.1    Xiong, D.-H.2    Guo, Y.3    Yang, T.-L.4    Recker, R.R.5    Deng, H.-W.6
  • 86
    • 44449122947 scopus 로고    scopus 로고
    • Optimal use of growth hormone therapy for maximizing adult height in children born small for gestational age
    • DOI 10.1016/j.beem.2008.03.003, PII S1521690X08000390
    • D. Simon, J. Leger, and J.C. Carel Optimal use of growth hormone therapy for maximizing adult height in children born small for gestational age Best Practice & Research. Clinical Endocrinology & Metabolism 22 2008 525 537 (Pubitemid 351761811)
    • (2008) Best Practice and Research: Clinical Endocrinology and Metabolism , vol.22 , Issue.3 , pp. 525-537
    • Simon, D.1    Leger, J.2    Carel, J.-C.3
  • 87
    • 77749239994 scopus 로고    scopus 로고
    • Observed and predicted growth responses in prepubertal children with growth disorders: Guidance of growth hormone treatment by empirical variables
    • M.B. Ranke, and A. Lindberg Observed and predicted growth responses in prepubertal children with growth disorders: guidance of growth hormone treatment by empirical variables The Journal of Clinical Endocrinology and Metabolism 95 2010 1229 1237
    • (2010) The Journal of Clinical Endocrinology and Metabolism , vol.95 , pp. 1229-1237
    • Ranke, M.B.1    Lindberg, A.2
  • 89
    • 85064188592 scopus 로고    scopus 로고
    • Mutated IGF-I receptor (D1105E) extinguish autophosphorylation: A family of short stature born intrauterine growth retardation bearing a novel missense mutation of the IGF-I receptor
    • San Diego
    • Kawashima Y, Okada S, Botsubo T et al. Mutated IGF-I receptor (D1105E) extinguish autophosphorylation: a family of short stature born intrauterine growth retardation bearing a novel missense mutation of the IGF-I receptor. In: 92nd annual meeting of the Endocrine Society, San Diego. 2010; p. P1-P662.
    • (2010) 92nd Annual Meeting of the Endocrine Society
    • Kawashima, Y.1    Okada, S.2    Botsubo, T.3
  • 90
    • 85064188388 scopus 로고    scopus 로고
    • Novel mutations (p.R511W and P.G6R) in IGF1R Gene in children born small for gestational age (SGA) without catch-up growth
    • San Diego
    • Leal AC, Montenegro LR, Coutinho DC et al. Novel mutations (p.R511W and P.G6R) in IGF1R Gene in children born small for gestational age (SGA) without catch-up growth. In: 92nd annual meeting of the Endocrine Society, San Diego. 2010; P1-P663.
    • (2010) 92nd Annual Meeting of the Endocrine Society
    • Leal, A.C.1    Montenegro, L.R.2    Coutinho, D.C.3
  • 91
    • 85064187467 scopus 로고    scopus 로고
    • Mutation screening of the insulin-like growth factor (IGF-1) and insulin-like growth factor-1 receptor (IGF1R) genes in patients with intrauterine growth retardation (IUGR) and postnatal catch-up growth failure: Identification of a novel frame-shift mutation in the IGF1R gene
    • New York
    • Choi JH, Jin HY, Lee BH et al. Mutation screening of the insulin-like growth factor (IGF-1) and insulin-like growth factor-1 receptor (IGF1R) genes in patients with intrauterine growth retardation (IUGR) and postnatal catch-up growth failure: identification of a novel frame-shift mutation in the IGF1R gene. In: 8th joint meeting LWPES/ESPE 2009, New York. 2009; p. PO3-P284.
    • (2009) 8th Joint Meeting LWPES/ESPE 2009
    • Choi, J.H.1    Jin, H.Y.2    Lee, B.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.