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Volumn 61, Issue 5, 1997, Pages 1067-1077

Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: An unusual type of intronic mutation

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR;

EID: 0030728419     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301605     Document Type: Article
Times cited : (45)

References (39)
  • 1
    • 0030451142 scopus 로고    scopus 로고
    • Interaction of steroid hormone receptors with the transcription initiation complex
    • Beato M, Sánchez-Pacheco A (1996) Interaction of steroid hormone receptors with the transcription initiation complex. Endocrinol Rev 17:587-609
    • (1996) Endocrinol Rev , vol.17 , pp. 587-609
    • Beato, M.1    Sánchez-Pacheco, A.2
  • 2
    • 0026062392 scopus 로고
    • Does steric interference between splice sites block the splicing of a short c-src neuron-specific exon in non-neuronal cells?
    • Black DL (1991) Does steric interference between splice sites block the splicing of a short c-src neuron-specific exon in non-neuronal cells? Genes Dev 5:389-402
    • (1991) Genes Dev , vol.5 , pp. 389-402
    • Black, D.L.1
  • 6
    • 0023392945 scopus 로고
    • High efficiency transformation of mammalian cells by plasmid DNA
    • Chen C, Okayama H (1987) High efficiency transformation of mammalian cells by plasmid DNA. Mol Cell Biol 7: 2745-2752
    • (1987) Mol Cell Biol , vol.7 , pp. 2745-2752
    • Chen, C.1    Okayama, H.2
  • 7
    • 0025759019 scopus 로고
    • Interaction of the glucocorticoid receptor DNA-binding domain with DNA as a dimer is mediated by a short segment of five amino acids
    • Dahlman-Wright K, Wright A, Gustafsson J-A, Carlstedt-Duke J (1991) Interaction of the glucocorticoid receptor DNA-binding domain with DNA as a dimer is mediated by a short segment of five amino acids. J Biol Chem 266:3107-3112
    • (1991) J Biol Chem , vol.266 , pp. 3107-3112
    • Dahlman-Wright, K.1    Wright, A.2    Gustafsson, J.-A.3    Carlstedt-Duke, J.4
  • 9
    • 0029156683 scopus 로고
    • Cloning of a teleost fish glucocorticoid receptor shows that it contains a deoxyribonucleic acid-binding domain different from that of mammals
    • Ducouret B, Tujague M, Ashraf J, Mouchel N, Servel N, Valotaire Y, Thompson EB (1995) Cloning of a teleost fish glucocorticoid receptor shows that it contains a deoxyribonucleic acid-binding domain different from that of mammals. Endocrinology 136:3774-3783
    • (1995) Endocrinology , vol.136 , pp. 3774-3783
    • Ducouret, B.1    Tujague, M.2    Ashraf, J.3    Mouchel, N.4    Servel, N.5    Valotaire, Y.6    Thompson, E.B.7
  • 10
    • 0023913120 scopus 로고
    • The steroid and thyroid hormone receptor superfamily
    • Evans RM (1988) The steroid and thyroid hormone receptor superfamily. Science 240:889-895
    • (1988) Science , vol.240 , pp. 889-895
    • Evans, R.M.1
  • 12
    • 0023340612 scopus 로고
    • Cell type-specificity elements of the immunoglobulin heavy chain gene enhancer
    • Gerster T, Matthias P, Thali M, Jiricny J, Schaffner W (1987) Cell type-specificity elements of the immunoglobulin heavy chain gene enhancer. EMBO J 6:1323-1330
    • (1987) EMBO J , vol.6 , pp. 1323-1330
    • Gerster, T.1    Matthias, P.2    Thali, M.3    Jiricny, J.4    Schaffner, W.5
  • 16
    • 0028131754 scopus 로고
    • Changes in abundance of AR isotypes: Effects of ligand treatment, glutamine-stretch variation and mutation of putative phosphorylation sites
    • Jenster G, de Ruiter PE, van der Korput JAGM, Kuiper GGJM, Trapman J, Brinkmann AO (1994) Changes in abundance of AR isotypes: effects of ligand treatment, glutamine-stretch variation and mutation of putative phosphorylation sites. Biochemistry 33:14064-14072
    • (1994) Biochemistry , vol.33 , pp. 14064-14072
    • Jenster, G.1    De Ruiter, P.E.2    Van Der Korput, J.A.G.M.3    Kuiper, G.G.J.M.4    Trapman, J.5    Brinkmann, A.O.6
  • 18
    • 0028891989 scopus 로고
    • Ligand-induced conformational alterations of the androgen receptor analyzed by limited trypsinization - Studies on the mechanism of antiandrogen action
    • Kuil CW, Berrevoets CA, Mulder E (1995) Ligand-induced conformational alterations of the androgen receptor analyzed by limited trypsinization - studies on the mechanism of antiandrogen action. J Biol Chem 270:27569-27576
    • (1995) J Biol Chem , vol.270 , pp. 27569-27576
    • Kuil, C.W.1    Berrevoets, C.A.2    Mulder, E.3
  • 20
    • 0027436256 scopus 로고
    • In vitro translation of the androgen receptor cRNA results in an activated androgen receptor protein
    • Kuiper GGJM, de Ruiter PE, Trapman J, Jenster G, Brinkmann AO (1993) In vitro translation of the androgen receptor cRNA results in an activated androgen receptor protein. Biochem J 296:161-167
    • (1993) Biochem J , vol.296 , pp. 161-167
    • Kuiper, G.G.J.M.1    De Ruiter, P.E.2    Trapman, J.3    Jenster, G.4    Brinkmann, A.O.5
  • 21
    • 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, Higgs HN, Migeon CJ, Wilson EM, French FS (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    Higgs, H.N.4    Migeon, C.J.5    Wilson, E.M.6    French, F.S.7
  • 23
    • 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 MG (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.G.3
  • 24
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splice mutations of mammalian genes
    • Nakai K, Sakamoto H (1994) Construction of a novel database containing aberrant splice mutations of mammalian genes. Gene 141:171-177
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 25
    • 0023972246 scopus 로고
    • Splice site selection and ribonucleoprotein complex assembly during in vitro pre-mRNA splicing
    • Nelson KK, Green MR (1988) Splice site selection and ribonucleoprotein complex assembly during in vitro pre-mRNA splicing. Genes Dev 2:319-329
    • (1988) Genes Dev , vol.2 , pp. 319-329
    • Nelson, K.K.1    Green, M.R.2
  • 27
    • 0026643472 scopus 로고
    • Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo
    • Quigley CA, Evans BAJ, Simental JA, Marschke KB, Sar M, Lubahn DB, Davies P, et al (1992) Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo. Mol Endocrinol 6: 1103-1112
    • (1992) Mol Endocrinol , vol.6 , pp. 1103-1112
    • Quigley, C.A.1    Evans, B.A.J.2    Simental, J.A.3    Marschke, K.B.4    Sar, M.5    Lubahn, D.B.6    Davies, P.7
  • 28
    • 0029339936 scopus 로고
    • How neutral are synonymous codon mutations?
    • Richard I, Beckmann JS (1995) How neutral are synonymous codon mutations? Nat Genet 10:259
    • (1995) Nat Genet , vol.10 , pp. 259
    • Richard, I.1    Beckmann, J.S.2
  • 30
    • 0025996551 scopus 로고
    • Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics
    • Ris-Stalpers C, Trifiro MA, Kuiper GGJM, Jenster G, Romalo G, Sai T, van Rooij HCJ, et al (1991) Substitution of aspartic acid-686 by histidine or asparagine in the human androgen receptor leads to a functionally inactive protein with altered hormone-binding characteristics. Mol Endocrinol 5: 1562-1569
    • (1991) Mol Endocrinol , vol.5 , pp. 1562-1569
    • Ris-Stalpers, C.1    Trifiro, M.A.2    Kuiper, G.G.J.M.3    Jenster, G.4    Romalo, G.5    Sai, T.6    Van Rooij, H.C.J.7
  • 31
    • 0028270467 scopus 로고
    • Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site
    • Ris-Stalpers C, Verleun-Mooijman MCT, de Blaeij TJP, Degenhart HJ, Trapman J, Brinkmann AO (1994) Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site. Am J Hum Genet 54:609-617
    • (1994) Am J Hum Genet , vol.54 , pp. 609-617
    • Ris-Stalpers, C.1    Verleun-Mooijman, M.C.T.2    De Blaeij, T.J.P.3    Degenhart, H.J.4    Trapman, J.5    Brinkmann, A.O.6
  • 33
    • 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
  • 34
    • 0022131865 scopus 로고
    • On the origin of RNA splicing and introns
    • Sharp PA (1985) On the origin of RNA splicing and introns. Cell 42:397-400
    • (1985) Cell , vol.42 , pp. 397-400
    • Sharp, P.A.1
  • 36
    • 0027288912 scopus 로고
    • The role of exon sequences in splice site selection
    • Watakabe A, Tanaka K, Shimura Y (1993) The role of exon sequences in splice site selection. Genes Dev 7:407-418
    • (1993) Genes Dev , vol.7 , pp. 407-418
    • Watakabe, A.1    Tanaka, K.2    Shimura, Y.3
  • 37
    • 0030476832 scopus 로고    scopus 로고
    • Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene
    • Weidemann W, Linck B, Haupt H, Mentrup B, Romalo G, Stockklauser K, Brinkmann AO, et al (1996) Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene. Clin Endocrinol 45:733-739
    • (1996) Clin Endocrinol , vol.45 , pp. 733-739
    • Weidemann, W.1    Linck, B.2    Haupt, H.3    Mentrup, B.4    Romalo, G.5    Stockklauser, K.6    Brinkmann, A.O.7
  • 38
    • 0029822862 scopus 로고    scopus 로고
    • Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor α or β genes may be due to a defective co-factor
    • Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, Tunca H, Seo H, et al (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor α or β genes may be due to a defective co-factor. J Clin Endocrinol Metab 81:4196-4203
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4196-4203
    • Weiss, R.E.1    Hayashi, Y.2    Nagaya, T.3    Petty, K.J.4    Murata, Y.5    Tunca, H.6    Seo, H.7
  • 39
    • 0029951486 scopus 로고    scopus 로고
    • Cloning and characterization of a specific coactivator, ARA70, for the androgen receptor in human prostate cells
    • Yeh S, Chang C (1996) Cloning and characterization of a specific coactivator, ARA70, for the androgen receptor in human prostate cells. Proc Natl Acad Sci USA 93: 5517-5521
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 5517-5521
    • Yeh, S.1    Chang, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.