The androgen receptor gene mutations database

被引:32
|
作者
Gottlieb, B
Trifiro, M
Lumbroso, R
Vasiliou, DM
Pinsky, L
机构
[1] MCGILL UNIV, DEPT MED, MONTREAL, PQ H3T 1E2, CANADA
[2] MCGILL UNIV, DEPT BIOL, MONTREAL, PQ H3T 1E2, CANADA
[3] MCGILL UNIV, DEPT HUMAN GENET, MONTREAL, PQ H3T 1E2, CANADA
[4] JOHN ABBOTT COLL, DEPT BIOL, BELLVUE, PQ H9X 3L9, CANADA
关键词
D O I
10.1093/nar/24.1.151
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The current version of the androgen receptor (AR) gene mutations database is described. We have added (if available) data on the androgen binding phenotype of the mutant AR, the clinical phenotype of the affected persons, the family history and whether the pathogenicity of a mutation has been proven. Exonic mutations are now listed in 5'-->3' sequence regardless of type and single base pair changes are presented in codon context, Splice site and intronic mutations are listed separately The database has allowed us to substantiate and amplify the observation of mutational hot spots within exons encoding the AR androgen binding domain.
引用
收藏
页码:151 / 154
页数:4
相关论文
共 50 条
  • [21] ANDROGEN RECEPTOR MUTATIONS
    BRINKMANN, AO
    JENSTER, G
    RISSTALPERS, C
    VANDERKORPUT, JAGM
    BRUGGENWIRTH, HT
    BOEHMER, ALM
    TRAPMAN, J
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1995, 53 (1-6): : 443 - 448
  • [22] MUTATIONS IN THE ANDROGEN RECEPTOR
    TRAPMAN, J
    BRINKMANN, AO
    ANNALS OF THE NEW YORK ACADEMY OF SCIENCES-SERIES, 1993, 684 : 85 - 93
  • [23] Androgen receptor mutations and androgen insensitivity
    McPhaul, MJ
    MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2002, 198 (1-2) : 61 - 67
  • [24] Significance of mutations in the androgen receptor gene in males with idiopathic infertility
    Hiort, O
    Holterhus, PM
    Horter, T
    Schulze, W
    Kremke, B
    Bals-Pratsch, M
    Sinnecker, GHG
    Kruse, K
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (08): : 2810 - 2815
  • [25] KENNEDY DISEASE - A CLINICOPATHOLOGICAL CORRELATION WITH MUTATIONS IN THE ANDROGEN RECEPTOR GENE
    AMATO, AA
    PRIOR, TW
    BAROHN, RJ
    SNYDER, P
    PAPP, A
    MENDELL, JR
    NEUROLOGY, 1993, 43 (04) : 791 - 794
  • [26] The role of androgen receptor gene mutations in male breast carcinoma
    Hiort, O
    Naber, SP
    Lehners, A
    MulettaFeurer, S
    Sinnecker, GHG
    Zollner, A
    Komminoth, P
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (09): : 3404 - 3407
  • [27] Preliminary investigations on androgen receptor gene mutations in infertile men
    Tincello, DG
    Saunders, PTK
    Hargreave, TB
    MOLECULAR HUMAN REPRODUCTION, 1997, 3 (11) : 941 - 943
  • [28] Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
    Cabral, DF
    Maciel-Guerra, AT
    Hackel, C
    BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH, 1998, 31 (06) : 775 - 778
  • [29] Androgen receptor gene mutations do not occur in ovarian cancer
    Engehausen, DG
    Tong, XW
    Oehler, MK
    Freund, CT
    Schrott, KM
    Kieback, DG
    ANTICANCER RESEARCH, 2000, 20 (2A) : 815 - 819
  • [30] Androgen receptor gene mutations: Possible involvement in prostate adenocarcinoma
    Mowszowicz, I
    Mestayer, C
    BULLETIN DU CANCER, 1997, 84 (02) : 183 - 188