메뉴 건너뛰기




Volumn 131, Issue 1 II SUPPL., 1997, Pages

The spectrum of growth-hormone insensitivity

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; MESSENGER RNA;

EID: 0030659548     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0022-3476(97)70011-8     Document Type: Conference Paper
Times cited : (13)

References (20)
  • 1
    • 0013890168 scopus 로고
    • Genetic pituitary dwarfism with high serum concentration of growth hormone: a new inborn error of metabolism?
    • Z Laron A Pertzelan S Mannheimer Genetic pituitary dwarfism with high serum concentration of growth hormone: a new inborn error of metabolism? Isr J Med Sci 2 1966 152 155
    • (1966) Isr J Med Sci , vol.2 , pp. 152-155
    • Laron, Z1    Pertzelan, A2    Mannheimer, S3
  • 2
    • 0021349498 scopus 로고
    • Defects of human growth hormone in the liver of two patients with Laron type dwarfism
    • R Eshet Z Laron A Pertzelan M Dintzman Defects of human growth hormone in the liver of two patients with Laron type dwarfism Isr J Med Sci 20 1984 8 11
    • (1984) Isr J Med Sci , vol.20 , pp. 8-11
    • Eshet, R1    Laron, Z2    Pertzelan, A3    Dintzman, M4
  • 3
    • 0021876594 scopus 로고
    • Evidence for the specific binding of growth hormone to a receptor-like protein in rabbit serum
    • SI Ymer AC Herrington Evidence for the specific binding of growth hormone to a receptor-like protein in rabbit serum Mol Cell Endocrinol 41 1985 153 161
    • (1985) Mol Cell Endocrinol , vol.41 , pp. 153-161
    • Ymer, SI1    Herrington, AC2
  • 4
    • 2342488722 scopus 로고
    • Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)
    • WH Daughaday B Trivedi Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism) Proc Natl Acad Sci U S A 84 1987 4636 4640
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 4636-4640
    • Daughaday, WH1    Trivedi, B2
  • 5
    • 0023627925 scopus 로고
    • Absence of the plasma growth hormone-binding protein in Laron type dwarfism
    • G Baumann MA Shaw RJ Winter Absence of the plasma growth hormone-binding protein in Laron type dwarfism J Clin Endocrinol Metab 65 1987 814 816
    • (1987) J Clin Endocrinol Metab , vol.65 , pp. 814-816
    • Baumann, G1    Shaw, MA2    Winter, RJ3
  • 6
    • 0023635603 scopus 로고
    • Growth hormone receptor and serum binding protein: purification, cloning and expression
    • DW Leung SA Spencer G Cachianes Growth hormone receptor and serum binding protein: purification, cloning and expression Nature 330 1987 537 543
    • (1987) Nature , vol.330 , pp. 537-543
    • Leung, DW1    Spencer, SA2    Cachianes, G3
  • 7
    • 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
    • PJ Godowski DW Leung LR Meacham 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 U S A 86 1989 8083 8087
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 8083-8087
    • Godowski, PJ1    Leung, DW2    Meacham, LR3
  • 8
    • 0024456661 scopus 로고
    • Laron dwarfism and mutations for the growth hormone-receptor gene
    • S Amselem P Duquesnoy O Attree Laron dwarfism and mutations for the growth hormone-receptor gene New Engl J Med 321 1989 989 995
    • (1989) New Engl J Med , vol.321 , pp. 989-995
    • Amselem, S1    Duquesnoy, P2    Attree, O3
  • 9
    • 0027024834 scopus 로고
    • Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome
    • MA Berg J Guevara-Aguirre AL Rosenbloom Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome Hum Mutat 1 1992 24 34
    • (1992) Hum Mutat , vol.1 , pp. 24-34
    • Berg, MA1    Guevara-Aguirre, J2    Rosenbloom, AL3
  • 10
    • 0027346824 scopus 로고
    • The molecular basis for growth hormone-receptor interactions
    • JA Wells BC Cunningham G Fuh The molecular basis for growth hormone-receptor interactions Recent Prog Horm Res 48 1993 253 275
    • (1993) Recent Prog Horm Res , vol.48 , pp. 253-275
    • Wells, JA1    Cunningham, BC2    Fuh, G3
  • 11
    • 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
    • P Duquesnoy M-L Sobrier B Duriez 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 1994 1386 1395
    • (1994) EMBO J , vol.13 , pp. 1386-1395
    • Duquesnoy, P1    Sobrier, M-L2    Duriez, B3
  • 12
    • 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
    • KA Woods NC Fraser MC Postel-Vinay 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 1996 1686 1690
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1686-1690
    • Woods, KA1    Fraser, NC2    Postel-Vinay, MC3
  • 13
    • 0014303924 scopus 로고
    • Pituitary dwarfism with high serum levels of growth hormone
    • Z Laron A Pertzelan M Karp Pituitary dwarfism with high serum levels of growth hormone Isr J Med Sci 4 1968 883 894
    • (1968) Isr J Med Sci , vol.4 , pp. 883-894
    • Laron, Z1    Pertzelan, A2    Karp, M3
  • 14
    • 0028260333 scopus 로고
    • Growth hormone (GH) insensitivity due to primary GH receptor deficiency
    • RG Rosenfeld AL Rosenbloom J Guevara-Aguirre Growth hormone (GH) insensitivity due to primary GH receptor deficiency Endocr Rev 15 1994 369 390
    • (1994) Endocr Rev , vol.15 , pp. 369-390
    • Rosenfeld, RG1    Rosenbloom, AL2    Guevara-Aguirre, J3
  • 15
    • 85119465548 scopus 로고
    • Deletion of exon three of the growth hormone receptor gene in Laron syndrome families [abstract]
    • E Faase MR Brown LR Meacham Deletion of exon three of the growth hormone receptor gene in Laron syndrome families [abstract] The Endocrine Society 1636 1994
    • (1994) The Endocrine Society , vol.1636
    • Faase, E1    Brown, MR2    Meacham, LR3
  • 16
    • 0027437270 scopus 로고
    • Diverse growth hormone receptor gene mutations in Laron syndrome
    • MA Berg J Arjente S Chernausek Diverse growth hormone receptor gene mutations in Laron syndrome Am J Hum Genet 52 1993 998 1005
    • (1993) Am J Hum Genet , vol.52 , pp. 998-1005
    • Berg, MA1    Arjente, J2    Chernausek, S3
  • 17
    • 0028863809 scopus 로고
    • Mutations of the growth hormone receptor in children with idiopathic short stature
    • AD Goddard R Covello S-H Luoh Mutations of the growth hormone receptor in children with idiopathic short stature New Engl J Med 333 1994 1093 1098
    • (1994) New Engl J Med , vol.333 , pp. 1093-1098
    • Goddard, AD1    Covello, R2    Luoh, S-H3
  • 18
    • 0025787596 scopus 로고
    • Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome
    • P Duquesnoy ML Sobrier S Amselem M Goosens Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome Proc Natl Acad Sci U S A 88 1991 10272 10276
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 10272-10276
    • Duquesnoy, P1    Sobrier, ML2    Amselem, S3    Goosens, M4
  • 19
    • 85119465589 scopus 로고    scopus 로고
    • Baumbach L, Schiavi A, Bartlett R, et al. Clinical, biochemical and molecular investigations of a Bahamian genetic isolate of Laron syndrome. J Clin Endocrinol Metab (in press).
  • 20
    • 0027176051 scopus 로고
    • Growth curves for Laron syndrome
    • Z Laron P Lilos B Klinger Growth curves for Laron syndrome Arch Dis Child 68 1993 768 770
    • (1993) Arch Dis Child , vol.68 , pp. 768-770
    • Laron, Z1    Lilos, P2    Klinger, B3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.