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Volumn 349, Issue 23, 2003, Pages 2211-2222

IGF-I Receptor Mutations Resulting in Intrauterine and Postnatal Growth Retardation

Author keywords

[No Author keywords available]

Indexed keywords

SOMATOMEDIN; SOMATOMEDIN C RECEPTOR;

EID: 0344874656     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMoa010107     Document Type: Article
Times cited : (539)

References (32)
  • 2
    • 0028957113 scopus 로고
    • Molecular and cellular aspects of the insulin-like growth factor I receptor
    • LeRoith D, Werner H, Beitner-Johnson D, Roberts CT Jr. Molecular and cellular aspects of the insulin-like growth factor I receptor. Endocr Rev 1995;16:143-63.
    • (1995) Endocr Rev , vol.16 , pp. 143-163
    • LeRoith, D.1    Werner, H.2    Beitner-Johnson, D.3    Roberts Jr., C.T.4
  • 3
    • 0031742076 scopus 로고    scopus 로고
    • Clinical review 97: Syndromes of severe insulin resistance
    • Tritos NA, Mantzoros CS. Clinical review 97: syndromes of severe insulin resistance. J Clin Endocrinol Metab 1998;83:3025-30.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3025-3030
    • Tritos, N.A.1    Mantzoros, C.S.2
  • 4
    • 0028903027 scopus 로고
    • Molecular defects of the insulin receptor gene
    • Accili D. Molecular defects of the insulin receptor gene. Diabetes Metab Rev 1995;11:47-62.
    • (1995) Diabetes Metab Rev , vol.11 , pp. 47-62
    • Accili, D.1
  • 5
    • 0021151441 scopus 로고
    • Pseudopituitary dwarfism due to resistance to somatomedin: A new syndrome
    • Bierich JR, Moeller H, Ranke MB, Rosenfeld RG. Pseudopituitary dwarfism due to resistance to somatomedin: a new syndrome. Eur J Pediatr 1984;142:186-8.
    • (1984) Eur J Pediatr , vol.142 , pp. 186-188
    • Bierich, J.R.1    Moeller, H.2    Ranke, M.B.3    Rosenfeld, R.G.4
  • 6
    • 0023124787 scopus 로고
    • Measurement of insulin-like growth factor-I (IGF-I) responsiveness of fibroblasts of children with short stature: Identification of a patient with IGF-1 resistance
    • Heath-Monning E, Wohltmann HJ, Mills-Dunlap B, Daughaday WH. Measurement of insulin-like growth factor-I (IGF-I) responsiveness of fibroblasts of children with short stature: identification of a patient with IGF-1 resistance. J Clin Endocrinol Metab 1987;64:501-7.
    • (1987) J Clin Endocrinol Metab , vol.64 , pp. 501-507
    • Heath-Monning, E.1    Wohltmann, H.J.2    Mills-Dunlap, B.3    Daughaday, W.H.4
  • 7
    • 0026538434 scopus 로고
    • Short stature with normal growth hormone and elevated IGF-I
    • Momoi T, Yamanaka C, Kobayashi M, et al. Short stature with normal growth hormone and elevated IGF-I. Eur J Pediatr 1992;151:321-5.
    • (1992) Eur J Pediatr , vol.151 , pp. 321-325
    • Momoi, T.1    Yamanaka, C.2    Kobayashi, M.3
  • 8
    • 0029973254 scopus 로고    scopus 로고
    • Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells
    • Hattori Y, Vera JC, Rivas CI, et al. Decreased insulin-like growth factor I receptor expression and function in immortalized African Pygmy T cells. J Clin Endocrinol Metab 1996;81:2257-63.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 2257-2263
    • Hattori, Y.1    Vera, J.C.2    Rivas, C.I.3
  • 9
    • 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
    • Roback EW, Barakat AJ, Dev VG, Mbikay M, Chrétien M, Butler MG. 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. Am J Med Genet 1991;38:74-9.
    • (1991) Am J Med Genet , vol.38 , pp. 74-79
    • Roback, E.W.1    Barakat, A.J.2    Dev, V.G.3    Mbikay, M.4    Chrétien, M.5    Butler, M.G.6
  • 10
    • 0027496895 scopus 로고
    • Mice carrying null mutations of the genes encoding insulin-like growth factor (Igf-1) and the 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 (Igf-1) and the 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
  • 11
    • 0035682194 scopus 로고    scopus 로고
    • Computer-guided, population-based screening system for growth disorders (CrescNet) and on-line generation of normative data for growth and development
    • Kiess W, Gausche R, Keller A, Burmeister J, Willgerodt H, Keller E. Computer-guided, population-based screening system for growth disorders (CrescNet) and on-line generation of normative data for growth and development. Horm Res 2001;56:Suppl 1:59-66.
    • (2001) Horm Res , vol.56 , Issue.SUPPL. 1 , pp. 59-66
    • Kiess, W.1    Gausche, R.2    Keller, A.3    Burmeister, J.4    Willgerodt, H.5    Keller, E.6
  • 12
    • 0030707946 scopus 로고    scopus 로고
    • Direct PCR of small genomic DNA fragments from serum
    • Sandford AJ, Pare PD. Direct PCR of small genomic DNA fragments from serum. Biotechniques 1997;23:890-2.
    • (1997) Biotechniques , vol.23 , pp. 890-892
    • Sandford, A.J.1    Pare, P.D.2
  • 13
    • 0027487271 scopus 로고
    • Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
    • Glavac D, Dean M. Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 1993;2:404-14.
    • (1993) Hum Mutat , vol.2 , pp. 404-414
    • Glavac, D.1    Dean, M.2
  • 14
    • 0025127106 scopus 로고
    • Insulin-like growth factor (IGF) binding to human fibroblast and glioblastoma cells: The modulating effect of cell released IGF binding proteins (IGFBPs)
    • McCusker RH, Camacho-Hubner C, Bayne ML, Cascieri MA, Clemmons DR. Insulin-like growth factor (IGF) binding to human fibroblast and glioblastoma cells: the modulating effect of cell released IGF binding proteins (IGFBPs). J Cell Physiol 1990;144:244-53.
    • (1990) J Cell Physiol , vol.144 , pp. 244-253
    • McCusker, R.H.1    Camacho-Hubner, C.2    Bayne, M.L.3    Cascieri, M.A.4    Clemmons, D.R.5
  • 15
    • 0024318904 scopus 로고
    • Actions of insulin-like growth factor-I on the B104 neuronal cell line: Effects on cell replication, receptor characteristics, and influence of secreted binding protein on ligand binding
    • Orlowski CC, Chernausek SD, Akeson R. Actions of insulin-like growth factor-I on the B104 neuronal cell line: effects on cell replication, receptor characteristics, and influence of secreted binding protein on ligand binding. J Cell Physiol 1989;139:469-76.
    • (1989) J Cell Physiol , vol.139 , pp. 469-476
    • Orlowski, C.C.1    Chernausek, S.D.2    Akeson, R.3
  • 16
    • 0032548865 scopus 로고    scopus 로고
    • Insulin-like growth factor-I receptor internalization regulates signaling via the Shc/mitogen-activated protein kinase pathway, but not the insulin receptor substrate-1 pathway
    • Chow JC, Condorelli G, Smith RJ. Insulin-like growth factor-I receptor internalization regulates signaling via the Shc/mitogen-activated protein kinase pathway, but not the insulin receptor substrate-1 pathway. J Biol Chem 1998;273:4672-80.
    • (1998) J Biol Chem , vol.273 , pp. 4672-4680
    • Chow, J.C.1    Condorelli, G.2    Smith, R.J.3
  • 19
    • 0025113454 scopus 로고
    • Assessment of growth hormone secretion in normal stature children using 24-hour integrated concentration of GH and pharmacological stimulation
    • Zadik Z, Chalew SA, Kowarski A. Assessment of growth hormone secretion in normal stature children using 24-hour integrated concentration of GH and pharmacological stimulation. J Clin Endocrinol Metab 1990;71:932-6.
    • (1990) J Clin Endocrinol Metab , vol.71 , pp. 932-936
    • Zadik, Z.1    Chalew, S.A.2    Kowarski, A.3
  • 20
    • 0027954066 scopus 로고
    • The ratio between serum levels of insulin-like growth factor (IGF)-I and the IGF binding proteins (IGFBP-1, 2 and 3) decreases with age in healthy adults and is increased in acromegalic patients
    • Juul A, Main K, Blum WF, Lindholm J, Ranke MB, Shakkebaek NE. The ratio between serum levels of insulin-like growth factor (IGF)-I and the IGF binding proteins (IGFBP-1, 2 and 3) decreases with age in healthy adults and is increased in acromegalic patients. Clin Endocrinol (Oxf) 1994;41:85-93.
    • (1994) Clin Endocrinol (Oxf) , vol.41 , pp. 85-93
    • Juul, A.1    Main, K.2    Blum, W.F.3    Lindholm, J.4    Ranke, M.B.5    Shakkebaek, N.E.6
  • 21
    • 0019166386 scopus 로고
    • Evaluation of perinatal growth: Presentation of combined intra- and extra-uterine growth standards for weight, length and head circumference
    • Largo RH, Walli P, Duc G, Fanconi A, Prader A. Evaluation of perinatal growth: presentation of combined intra- and extra-uterine growth standards for weight, length and head circumference. Helv Paediatr Acta 1980;35:419-36.
    • (1980) Helv Paediatr Acta , vol.35 , pp. 419-436
    • Largo, R.H.1    Walli, P.2    Duc, G.3    Fanconi, A.4    Prader, A.5
  • 22
    • 0024689265 scopus 로고
    • Physical growth of Swiss children from birth to 20 years of age: First Zurich Longitudinal Study of growth and development
    • Prader A, Largo RH, Molinari L, Issler C. Physical growth of Swiss children from birth to 20 years of age: First Zurich Longitudinal Study of growth and development. Helv Paediatr Acta Suppl 1989;52:1-125.
    • (1989) Helv Paediatr Acta Suppl , vol.52 , pp. 1-125
    • Prader, A.1    Largo, R.H.2    Molinari, L.3    Issler, C.4
  • 23
    • 0032560753 scopus 로고    scopus 로고
    • Crystal structure of the first three domains of the type-1 insulin-like growth factor receptor
    • Garrett TP, McKern NM, Lou M, et al. Crystal structure of the first three domains of the type-1 insulin-like growth factor receptor. Nature 1998;394:395-9.
    • (1998) Nature , vol.394 , pp. 395-399
    • Garrett, T.P.1    McKern, N.M.2    Lou, M.3
  • 24
    • 0028111140 scopus 로고
    • Homozygosity for a new mutation (Ile119→Met) in the insulin receptor gene in five sibs with familial insulin resistance
    • Hone J, Accili D, al-Gazali LI, Lestringant G, Orban T, Taylor SI. Homozygosity for a new mutation (Ile119→Met) in the insulin receptor gene in five sibs with familial insulin resistance. J Med Genet 1994;31:715-6.
    • (1994) J Med Genet , vol.31 , pp. 715-716
    • Hone, J.1    Accili, D.2    Al-Gazali, L.I.3    Lestringant, G.4    Orban, T.5    Taylor, S.I.6
  • 25
    • 0029043193 scopus 로고
    • Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome
    • Peoples R, Milatovich A, Francke U. Hemizygosity at the insulin-like growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome. Cytogenet Cell Genet 1995;70:228-34.
    • (1995) Cytogenet Cell Genet , vol.70 , pp. 228-234
    • Peoples, R.1    Milatovich, A.2    Francke, U.3
  • 27
    • 0028260333 scopus 로고
    • Growth hormone (GH) insensitivity due to primary GH receptor deficiency
    • Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 1994;15:369-90.
    • (1994) Endocr Rev , vol.15 , pp. 369-390
    • Rosenfeld, R.G.1    Rosenbloom, A.L.2    Guevara-Aguirre, J.3
  • 28
    • 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 AJL. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996;335:1363-7.
    • (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.L.4
  • 29
    • 0034235175 scopus 로고    scopus 로고
    • Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
    • Blagitko N, Mergenthaler S, Schulz U, et al. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet 2000;9:1587-95.
    • (2000) Hum Mol Genet , vol.9 , pp. 1587-1595
    • Blagitko, N.1    Mergenthaler, S.2    Schulz, U.3
  • 30
    • 0027722171 scopus 로고
    • The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours
    • Howard TK, Algar EM, Glatz JA, Reeve AE, Smith PJ. The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours. Hum Mol Genet 1993;2:2089-22.
    • (1993) Hum Mol Genet , vol.2 , pp. 2089-2022
    • Howard, T.K.1    Algar, E.M.2    Glatz, J.A.3    Reeve, A.E.4    Smith, P.J.5
  • 31
    • 0027285258 scopus 로고
    • Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
    • Ogawa O, Eccles MR, Szeto J, et al. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour. Nature 1993;362:749-51.
    • (1993) Nature , vol.362 , pp. 749-751
    • Ogawa, O.1    Eccles, M.R.2    Szeto, J.3
  • 32
    • 0030330547 scopus 로고    scopus 로고
    • The role of the insulin-like growth factors in the central nervous system
    • D'Ercole AJ, Ye P, Calikoglu AS, Gutierrez-Ospina G. The role of the insulin-like growth factors in the central nervous system. Mol Neurobiol 1996;13:227-55.
    • (1996) Mol Neurobiol , vol.13 , pp. 227-255
    • D'Ercole, A.J.1    Ye, P.2    Calikoglu, A.S.3    Gutierrez-Ospina, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.