메뉴 건너뛰기




Volumn 82, Issue 2, 1997, Pages 444-451

Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BINDING AFFINITY; CLINICAL ARTICLE; CODON; DRUG RECEPTOR BINDING; FEMALE; GENE DELETION; GENE ISOLATION; GROWTH HORMONE DEFICIENCY; HORMONE RESISTANCE; HUMAN; LARON SYNDROME; LIGAND BINDING; LIVER BIOPSY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SHORT STATURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 8044231951     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.2.444     Document Type: Article
Times cited : (44)

References (39)
  • 1
    • 0013890168 scopus 로고
    • Genetic pituitary dwarfism with high serum concentration of growth hormone. A new inborn error of metabolism?
    • Laron Z, Pertzelan A, Mannheimer S. 1966 Genetic pituitary dwarfism with high serum concentration of growth hormone. A new inborn error of metabolism? Isr J Med Sci. 2:152-155.
    • (1966) Isr J Med Sci , vol.2 , pp. 152-155
    • Laron, Z.1    Pertzelan, A.2    Mannheimer, S.3
  • 3
    • 0021349498 scopus 로고
    • Defects of human growth hormone in the liver of two patients with Laron type dwarfism
    • Eshet R, Laron Z, Pertzelan A, Dintzman M. 1984 Defects of human growth hormone in the liver of two patients with Laron type dwarfism. Isr J Med Sci. 20:8-11.
    • (1984) Isr J Med Sci , vol.20 , pp. 8-11
    • Eshet, R.1    Laron, Z.2    Pertzelan, A.3    Dintzman, M.4
  • 4
    • 0023635603 scopus 로고
    • Growth hormone receptor and serum binding protein: Purification, cloning and expression
    • Leung DW, Spencer SA, Cachianes G, et al. 1987 Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature. 330:537-543.
    • (1987) Nature , vol.330 , pp. 537-543
    • Leung, D.W.1    Spencer, S.A.2    Cachianes, G.3
  • 5
    • 0024469936 scopus 로고
    • A novel family of growth factor receptors: A common binding domain in the growth hormone, prolactin, erythropoietin and IL-6 receptors, and the p75 IL-2 receptor B chain
    • Bazan JF. 1989 A novel family of growth factor receptors: a common binding domain in the growth hormone, prolactin, erythropoietin and IL-6 receptors, and the p75 IL-2 receptor B chain. Biochem Biophys Res Commun. 164:788-795.
    • (1989) Biochem Biophys Res Commun , vol.164 , pp. 788-795
    • Bazan, J.F.1
  • 6
    • 0025942918 scopus 로고
    • The integrity of the conserved "WS motif" common to IL-2 and other cytokine receptors is essential for ligand binding and signal transduction
    • Miyasaki T, Maruyama M, Yamada G, et.al. 1991 The integrity of the conserved "WS motif" common to IL-2 and other cytokine receptors is essential for ligand binding and signal transduction. EMBO J. 10:3191-3197.
    • (1991) EMBO J , vol.10 , pp. 3191-3197
    • Miyasaki, T.1    Maruyama, M.2    Yamada, G.3
  • 7
    • 0027412707 scopus 로고
    • Evidence for generation of the growth hormone-binding protein through proteolysis of the growth hormone membrane receptor
    • Sotiropoulos A, Goujon L, Simonin G, et al. 1993 Evidence for generation of the growth hormone-binding protein through proteolysis of the growth hormone membrane receptor. Endocrinology. 132:1863-1865.
    • (1993) Endocrinology , vol.132 , pp. 1863-1865
    • Sotiropoulos, A.1    Goujon, L.2    Simonin, G.3
  • 8
    • 0023930989 scopus 로고
    • The circulating growth hormone-binding protein complex: A major constituent of plasma GH in man
    • Baumann G, Amburn K, Shaw M. 1988 The circulating growth hormone-binding protein complex: a major constituent of plasma GH in man. Endocrinology. 122:976-984.
    • (1988) Endocrinology , vol.122 , pp. 976-984
    • Baumann, G.1    Amburn, K.2    Shaw, M.3
  • 9
    • 0023150078 scopus 로고
    • The effect of circulating growth hormone-binding protein on metabolic clearance, distribution and degradation of human growth hormone
    • Baumann G, Amburn KC, Buchanan TA. 1989 The effect of circulating growth hormone-binding protein on metabolic clearance, distribution and degradation of human growth hormone. J Clin Endocrinol Metab. 64:657-660.
    • (1989) J Clin Endocrinol Metab , vol.64 , pp. 657-660
    • Baumann, G.1    Amburn, K.C.2    Buchanan, T.A.3
  • 10
    • 2342488722 scopus 로고
    • Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)
    • Daughaday WH, Trivedi B. 1987 Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). Proc Natl Acad Sci USA. 84:4636-4640.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 4636-4640
    • Daughaday, W.H.1    Trivedi, B.2
  • 11
    • 0023627925 scopus 로고
    • Absence of the plasma growth hormone-binding protein in Laron type dwarfism
    • Baumann G, Shaw MA, Winter RJ. 1987 Absence of the plasma growth hormone-binding protein in Laron type dwarfism. J Clin Endocrinol Metab. 65:814-816.
    • (1987) J Clin Endocrinol Metab , vol.65 , pp. 814-816
    • Baumann, G.1    Shaw, M.A.2    Winter, R.J.3
  • 12
    • 0027931590 scopus 로고
    • Receptor mutations and haplotypes in growth hormone receptor deficiency: A global survey and identification of the Ecuadorian E180 splice mutation in an Oriental Jewish patient
    • Berg MA, Peoples R, Perez-Jurado L, et al. 1994 Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorian E180 splice mutation in an Oriental Jewish patient. Acta Paediatr. 39(Suppl 9):112-114.
    • (1994) Acta Paediatr , vol.39 , Issue.9 SUPPL. , pp. 112-114
    • Berg, M.A.1    Peoples, R.2    Perez-Jurado, L.3
  • 13
    • 0027461761 scopus 로고
    • Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome
    • Amselem S, Duquesnoy P, Duriez B, et al. 1993 Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum Mol Genet. 2:355-359.
    • (1993) Hum Mol Genet , vol.2 , pp. 355-359
    • Amselem, S.1    Duquesnoy, P.2    Duriez, B.3
  • 14
    • 0346628520 scopus 로고
    • Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism
    • Godowski PJ, Leung DW, Meacham LR, et al. 1989 Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci USA. 86:8083-8087.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8083-8087
    • Godowski, P.J.1    Leung, D.W.2    Meacham, L.R.3
  • 16
    • 0029010714 scopus 로고
    • Growth hormone insensitivity syndrome due to point deletion, and frame shift in the growth hormone receptor
    • Counts DR, Cutler Jr GB. 1995 Growth hormone insensitivity syndrome due to point deletion, and frame shift in the growth hormone receptor. J Clin Endocr Metab. 80:1978-1981.
    • (1995) J Clin Endocr Metab , vol.80 , pp. 1978-1981
    • Counts, D.R.1    Cutler Jr., G.B.2
  • 17
    • 0025761377 scopus 로고
    • Recurrent nonsense mutations in the growth hormone receptor from patients with Laron syndrome
    • Amselem S, Sobrier ML, Duquesnoy P, et al. 1991 Recurrent nonsense mutations in the growth hormone receptor from patients with Laron syndrome. J Clin Invest. 87:1098-1102.
    • (1991) J Clin Invest , vol.87 , pp. 1098-1102
    • Amselem, S.1    Sobrier, M.L.2    Duquesnoy, P.3
  • 18
    • 0024456661 scopus 로고
    • Laron dwarfism and mutations for the growth hormone-receptor gene
    • Amselem S, Duquesnoy P, Attree O, et al. 1989 Laron dwarfism and mutations for the growth hormone-receptor gene. N Engl J Med. 321:989-995.
    • (1989) N Engl J Med , vol.321 , pp. 989-995
    • Amselem, S.1    Duquesnoy, P.2    Attree, O.3
  • 19
    • 0028294901 scopus 로고
    • A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization
    • Duquesnoy P, Sobrier M-L, Duriez B, et al. 1994 A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBO J. 13:1386-1395.
    • (1994) EMBO J , vol.13 , pp. 1386-1395
    • Duquesnoy, P.1    Sobrier, M.-L.2    Duriez, B.3
  • 20
    • 0029879642 scopus 로고    scopus 로고
    • A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein
    • Woods KA, Fraser NC, Postel-Vinay MC, et al. 1996 A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab. 81:1686-1690.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1686-1690
    • Woods, K.A.1    Fraser, N.C.2    Postel-Vinay, M.C.3
  • 21
    • 0027024834 scopus 로고
    • Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome
    • Berg MA, Guevara-Aguirre J, Rosenbloom AL, et al. 1992 Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome. Hum Mutat. 1:24-34.
    • (1992) Hum Mutat , vol.1 , pp. 24-34
    • Berg, M.A.1    Guevara-Aguirre, J.2    Rosenbloom, A.L.3
  • 22
    • 0025222960 scopus 로고
    • The little women of Loja-growth hormone receptor deficiency in an inbred population of southern Ecuador
    • Rosenbloom AL, Guevara-Aguirre JG, Rosenfeld RG, Fielder PJ. 1990 The little women of Loja-growth hormone receptor deficiency in an inbred population of southern Ecuador. N Engl J Med. 323:1367-1374.
    • (1990) N Engl J Med , vol.323 , pp. 1367-1374
    • Rosenbloom, A.L.1    Guevara-Aguirre, J.G.2    Rosenfeld, R.G.3    Fielder, P.J.4
  • 23
    • 0028260333 scopus 로고
    • Growth hormone (GH) insensitivity due to primary GH receptor deficiency
    • Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. 1994 Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev. 15:369-390.
    • (1994) Endocr Rev , vol.15 , pp. 369-390
    • Rosenfeld, R.G.1    Rosenbloom, A.L.2    Guevara-Aguirre, J.3
  • 24
    • 0025723443 scopus 로고
    • Ligand-mediated immunofunctional assay (LIFA) for quantitation of growth hormone-binding protein in human blood
    • Carlsson LMS, Rowland AM, Clark RG, et al. 1991 Ligand-mediated immunofunctional assay (LIFA) for quantitation of growth hormone-binding protein in human blood. J Clin Endocrinol Metab. 73:1216-1223.
    • (1991) J Clin Endocrinol Metab , vol.73 , pp. 1216-1223
    • Carlsson, L.M.S.1    Rowland, A.M.2    Clark, R.G.3
  • 25
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 26
    • 0016700864 scopus 로고
    • Detection of specific sequences among DNA fragments separated by gel electrophoresis
    • Southern EM. 1975 Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 98:503-517.
    • (1975) J Mol Biol , vol.98 , pp. 503-517
    • Southern, E.M.1
  • 27
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, et al. 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 86:2766-2770.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3
  • 28
    • 0026538578 scopus 로고
    • An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy
    • Sharp NJH, Kornegay JN, Van Camp SD, et al. 1992 An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics. 13:115-121.
    • (1992) Genomics , vol.13 , pp. 115-121
    • Sharp, N.J.H.1    Kornegay, J.N.2    Van Camp, S.D.3
  • 29
    • 8044262208 scopus 로고
    • The colonization of the Bahamas
    • Miller WH. 1945 The colonization of the Bahamas. William Mary Q. 00:1647-70.
    • (1945) William Mary Q , pp. 1647-1670
    • Miller, W.H.1
  • 32
    • 0026794668 scopus 로고
    • The mutational spectrum of single base pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak M, Reiss J, Cooper DN. 1992 The mutational spectrum of single base pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 90:41-54.
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 34
    • 0023651307 scopus 로고
    • RNA Splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro MB, Senapathy P. 1987 RNA Splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression Nucleic Acids Res. 15:7155-7174.
    • (1987) Nucleic Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 35
    • 0003399365 scopus 로고
    • Nassau, Bahamas: Commonwealth of the Bahamas
    • Commonwealth of the Bahamas. 1991 Census of Population, and Housing. Nassau, Bahamas: Commonwealth of the Bahamas.
    • (1991) Census of Population, and Housing
  • 36
    • 0027462456 scopus 로고
    • Lack of hormone binding in Cos-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism
    • Edery M, Rozakis-Adcock M, Goujon L, et al. 1993 Lack of hormone binding in Cos-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. J Clin Invest. 91:838-844.
    • (1993) J Clin Invest , vol.91 , pp. 838-844
    • Edery, M.1    Rozakis-Adcock, M.2    Goujon, L.3
  • 37
    • 0028898944 scopus 로고
    • Amino acids of the human growth hormone receptor that are required for proliferation and Jak-STAT signaling
    • Wang YD, Wood WI. 1995 Amino acids of the human growth hormone receptor that are required for proliferation and Jak-STAT signaling. Mol Endocrinol. 9:303-311.
    • (1995) Mol Endocrinol , vol.9 , pp. 303-311
    • Wang, Y.D.1    Wood, W.I.2
  • 38
    • 0025787596 scopus 로고
    • Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome
    • Duquesnoy P, Sobrier ML, Amselem S, Goosens M. 1991 Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Proc Natl Acad Sci USA. 88:10272-10276.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10272-10276
    • Duquesnoy, P.1    Sobrier, M.L.2    Amselem, S.3    Goosens, M.4
  • 39
    • 0026669062 scopus 로고
    • Stimulation of structural growth by recombinant insulin-like growth factor I in a child with grwoth hormone insensitivity syndrome (Laron type)
    • Walker JL, Van Wyk JJ, Underwood LE. 1992 Stimulation of structural growth by recombinant insulin-like growth factor I in a child with grwoth hormone insensitivity syndrome (Laron type). J Pediatr. 121:641-646.
    • (1992) J Pediatr , vol.121 , pp. 641-646
    • Walker, J.L.1    Van Wyk, J.J.2    Underwood, L.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.