메뉴 건너뛰기




Volumn 81, Issue 8, 1996, Pages 2994-2998

Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; MESSENGER RNA; METHIONINE; STEROID 5ALPHA REDUCTASE;

EID: 0029809798     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.8.2994     Document Type: Article
Times cited : (84)

References (29)
  • 1
    • 0026544312 scopus 로고
    • Androgen resistance. The clinical and molecular spectrum
    • Griffin JE. 1992 Androgen resistance. The clinical and molecular spectrum. N Engl J Med. 362:611-618.
    • (1992) N Engl J Med , vol.362 , pp. 611-618
    • Griffin, J.E.1
  • 3
    • 0024306555 scopus 로고
    • Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity
    • Lubahn DB, Brown TR, Simental JA, et al. 1989 Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA. 86:9534-9538.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9534-9538
    • Lubahn, D.B.1    Brown, T.R.2    Simental, J.A.3
  • 4
    • 0029069878 scopus 로고
    • Androgen receptor defects: Historical, clinical, and molecular perspectives
    • Quigley CA, De Bellis A, Marschke KB, et al. 1995 Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 16:271-321.
    • (1995) Endocr Rev , vol.16 , pp. 271-321
    • Quigley, C.A.1    De Bellis, A.2    Marschke, K.B.3
  • 5
    • 0028347740 scopus 로고
    • What are the indications for prenatal diagnosis in the androgen insensitivity syndrome-facing clinical heterogeneity of phenotypes for the same genotype
    • Morel Y, Mebarki F, Forest M. 1994 What are the indications for prenatal diagnosis in the androgen insensitivity syndrome-facing clinical heterogeneity of phenotypes for the same genotype. Eur J Endocrinol. 130:325-326.
    • (1994) Eur J Endocrinol , vol.130 , pp. 325-326
    • Morel, Y.1    Mebarki, F.2    Forest, M.3
  • 6
    • 0024581106 scopus 로고
    • Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy
    • Grino PB, Isidro-Gutierrez RF, Griffin JE, Wilson JD. 1989 Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J Clin Endocrinol Metab. 68:578-584.
    • (1989) J Clin Endocrinol Metab , vol.68 , pp. 578-584
    • Grino, P.B.1    Isidro-Gutierrez, R.F.2    Griffin, J.E.3    Wilson, J.D.4
  • 7
    • 0025858749 scopus 로고
    • Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy
    • McPhaul MJ, Marcelli M, Tilley WD, et al. 1991 Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J Clin Endocrinol Metab. 87:1413-1421.
    • (1991) J Clin Endocrinol Metab , vol.87 , pp. 1413-1421
    • McPhaul, M.J.1    Marcelli, M.2    Tilley, W.D.3
  • 8
    • 0022526564 scopus 로고
    • Comparative effects of cyproterone acetate or a long-acting gonadotropin-releasing hormone agonist in polycystic ovarian disease
    • Couzinet B, Le Strat N, Brailly S, Schaison G. 1986 Comparative effects of cyproterone acetate or a long-acting gonadotropin-releasing hormone agonist in polycystic ovarian disease. J Clin Endocrinol Metab. 63:1031-1035.
    • (1986) J Clin Endocrinol Metab , vol.63 , pp. 1031-1035
    • Couzinet, B.1    Le Strat, N.2    Brailly, S.3    Schaison, G.4
  • 9
    • 0026588737 scopus 로고
    • Progesterone stimulates luteinizing hormone secretion by acting directly on the pituitary
    • Couzinet B, Brailly S, Bouchard P, Schaison G. 1992 Progesterone stimulates luteinizing hormone secretion by acting directly on the pituitary. J Clin Endocrinol Metab. 74:374-378.
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 374-378
    • Couzinet, B.1    Brailly, S.2    Bouchard, P.3    Schaison, G.4
  • 11
    • 0027166172 scopus 로고
    • A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene couses complete androgen insensitivity in two siblings with receptor-positive androgen resistance
    • Mowszowicz I, Lee HJ, Chen HT, et al. 1993 A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene couses complete androgen insensitivity in two siblings with receptor-positive androgen resistance. Mol Endocrinol. 7:861-869.
    • (1993) Mol Endocrinol , vol.7 , pp. 861-869
    • Mowszowicz, I.1    Lee, H.J.2    Chen, H.T.3
  • 13
    • 10144228764 scopus 로고
    • Complete direct sequencing of the entire AR gone in 45 unrelated patients with androgen insensitivity syndrome: Identification of 34 mutations (18 are novel) and no mutation detected in 11 subjects (25% of the cases)
    • Mebarki F, Forest M, Josso N, Chatelein P, David M, Morel Y. 1994 Complete direct sequencing of the entire AR gone in 45 unrelated patients with androgen insensitivity syndrome: identification of 34 mutations (18 are novel) and no mutation detected in 11 subjects (25% of the cases). Am J Hum Genet. [Suppl]41:A178.
    • (1994) Am J Hum Genet , vol.41 , Issue.SUPPL.
    • Mebarki, F.1    Forest, M.2    Josso, N.3    Chatelein, P.4    David, M.5    Morel, Y.6
  • 14
    • 0343356754 scopus 로고
    • De novo mutation of the androgen receptor gene is not a rare event in androgen insensitivity syndrome as suggested by segregation of the trinucleotide repeat in the exon 1 and sequencing
    • Las Vegas NV, (Abstract)
    • Mebarki F, Forest M, Bertrand AM, et al. De novo mutation of the androgen receptor gene is not a rare event in androgen insensitivity syndrome as suggested by segregation of the trinucleotide repeat in the exon 1 and sequencing. Program of the 75th Annual Meeting of The Endocrine Society, Las Vegas NV, 1993, (Abstract) p 602.
    • (1993) Program of the 75th Annual Meeting of the Endocrine Society , pp. 602
    • Mebarki, F.1    Forest, M.2    Bertrand, A.M.3
  • 15
  • 16
    • 0027521663 scopus 로고
    • A mutation in CFTR produces different phenotypes depending on chromosomal background
    • Kiesewetter S, Macek Jr M, Davis C, et al. 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 5:274-278.
    • (1993) Nat Genet , vol.5 , pp. 274-278
    • Kiesewetter, S.1    Macek Jr., M.2    Davis, C.3
  • 17
    • 0027241002 scopus 로고
    • The syndrome of resistance to thyroid hormone
    • Refetoff S, Weiss RE, Usala SJ. 1993 The syndrome of resistance to thyroid hormone. Endocr Rev. 14:348-399.
    • (1993) Endocr Rev , vol.14 , pp. 348-399
    • Refetoff, S.1    Weiss, R.E.2    Usala, S.J.3
  • 18
    • 0027193565 scopus 로고
    • Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome
    • Batch JA, Davies HR, Evans BAJ, Hughes IA, Patterson MN. 1993 Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Arch Dis Child. 68:453-457.
    • (1993) Arch Dis Child , vol.68 , pp. 453-457
    • Batch, J.A.1    Davies, H.R.2    Evans, B.A.J.3    Hughes, I.A.4    Patterson, M.N.5
  • 19
    • 0026939531 scopus 로고
    • Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome
    • Batch JA, Williams DM, Davies HR, et al. 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet. 1:497-503.
    • (1992) Hum Mol Genet , vol.1 , pp. 497-503
    • Batch, J.A.1    Williams, D.M.2    Davies, H.R.3
  • 20
    • 0028275415 scopus 로고
    • A practical approach to the detection of the androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity
    • Ris-Stalpers C, Hoogenboezem T, Sleddens HFBM, et al. 1994 A practical approach to the detection of the androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity. Pediatr Res. 36:227-234.
    • (1994) Pediatr Res , vol.36 , pp. 227-234
    • Ris-Stalpers, C.1    Hoogenboezem, T.2    Sleddens, H.F.B.M.3
  • 21
    • 0027085771 scopus 로고
    • Androgen resistance due to mutation of the androgen receptor
    • Pinsky L, Trifiro M, Kaufman M, et al. 1992 Androgen resistance due to mutation of the androgen receptor. Clin Invest Med. 15:456-472.
    • (1992) Clin Invest Med , vol.15 , pp. 456-472
    • Pinsky, L.1    Trifiro, M.2    Kaufman, M.3
  • 22
    • 0026483082 scopus 로고
    • Mutations in the ligand-binding domain of the androgen receptor cluster in two regions of the gene
    • McPhaul MJ, Marcelli M, Zoppi S, et al. 1992 Mutations in the ligand-binding domain of the androgen receptor cluster in two regions of the gene. J Clin Invest. 90:2097-2101.
    • (1992) J Clin Invest , vol.90 , pp. 2097-2101
    • McPhaul, M.J.1    Marcelli, M.2    Zoppi, S.3
  • 23
    • 0027967064 scopus 로고
    • Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex
    • Marcelli M, Zoppi S, Wilson CM, Griffin JE, McPhaul MJ. 1994 Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. J Clin Invest. 94:1642-1650.
    • (1994) J Clin Invest , vol.94 , pp. 1642-1650
    • Marcelli, M.1    Zoppi, S.2    Wilson, C.M.3    Griffin, J.E.4    McPhaul, M.J.5
  • 24
    • 0028062887 scopus 로고
    • Induction of translation by the 5′-untranslated region of human androgen receptor mRNA
    • Mikozami A, Chang C. 1994 Induction of translation by the 5′-untranslated region of human androgen receptor mRNA. J Biol Chem. 269:25655-25659.
    • (1994) J Biol Chem , vol.269 , pp. 25655-25659
    • Mikozami, A.1    Chang, C.2
  • 25
    • 0027468178 scopus 로고
    • Related individuals with different androgen receptor deletions
    • MacLean HE, Chu S, Warne GE, Zajac JD. 1993 Related individuals with different androgen receptor deletions. J Clin Invest. 91:1123-1128.
    • (1993) J Clin Invest , vol.91 , pp. 1123-1128
    • MacLean, H.E.1    Chu, S.2    Warne, G.E.3    Zajac, J.D.4
  • 26
    • 0027267497 scopus 로고
    • Receptor accessory factor enhances specific DNA binding of androgen and glucocorticoid receptors
    • Kupfer SR, Marschke KB, Wilson EM, French FS. 1993 Receptor accessory factor enhances specific DNA binding of androgen and glucocorticoid receptors, J Biol Chem. 268:17519-17527.
    • (1993) J Biol Chem , vol.268 , pp. 17519-17527
    • Kupfer, S.R.1    Marschke, K.B.2    Wilson, E.M.3    French, F.S.4
  • 27
    • 0027994209 scopus 로고
    • Stimulation of androgen-regulated transactivation by modulators of protein phosphorylation
    • Ikonen T, Palvimo JJ, Kallio PJ, Reinikainen P, Jänne O. 1994 Stimulation of androgen-regulated transactivation by modulators of protein phosphorylation. Endocrinology. 135:1359-1366.
    • (1994) Endocrinology , vol.135 , pp. 1359-1366
    • Ikonen, T.1    Palvimo, J.J.2    Kallio, P.J.3    Reinikainen, P.4    Jänne, O.5
  • 28
    • 0027394555 scopus 로고
    • Mineralocorticoid and glucocorticoid receptor activities distinguished by nonreceptor factors at a composite response element
    • Pearce D, Yamamoto KR. 1993 Mineralocorticoid and glucocorticoid receptor activities distinguished by nonreceptor factors at a composite response element. Science. 259:1161-1165.
    • (1993) Science , vol.259 , pp. 1161-1165
    • Pearce, D.1    Yamamoto, K.R.2
  • 29
    • 0027495704 scopus 로고
    • The adenovirus-mediated delivery of a reporter gene permits the assessment of androgen receptor function in genital skin fibroblast cultures
    • McPhaul MJ, Deslypere JP, Allmam DL, Gerard RD. 1993 The adenovirus-mediated delivery of a reporter gene permits the assessment of androgen receptor function in genital skin fibroblast cultures. J Biol Chem. 35:26063-26066.
    • (1993) J Biol Chem , vol.35 , pp. 26063-26066
    • McPhaul, M.J.1    Deslypere, J.P.2    Allmam, D.L.3    Gerard, R.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.