Literature DB >> 8594566

The androgen receptor gene mutations database.

B Gottlieb1, M Trifiro, R Lumbroso, D M Vasiliou, L Pinsky.   

Abstract

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. The database is available from EML (ftp://www.ebi.ac.uk/pub/databases/androgen) or as a Macintosh Filemaker file (MC33@musica.mcgill.ca).

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Year:  1996        PMID: 8594566      PMCID: PMC145582          DOI: 10.1093/nar/24.1.151

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  18 in total

1.  Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.

Authors:  M J McPhaul; M Marcelli; S Zoppi; C M Wilson; J E Griffin; J D Wilson
Journal:  J Clin Invest       Date:  1992-11       Impact factor: 14.808

2.  Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Authors:  A R La Spada; E M Wilson; D B Lubahn; A E Harding; K H Fischbeck
Journal:  Nature       Date:  1991-07-04       Impact factor: 49.962

3.  Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

Authors:  H Klocker; F Kaspar; J Eberle; S Uberreiter; C Radmayr; G Bartsch
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

Review 4.  Androgen receptor defects: historical, clinical, and molecular perspectives.

Authors:  C A Quigley; A De Bellis; K B Marschke; M K el-Awady; E M Wilson; F S French
Journal:  Endocr Rev       Date:  1995-06       Impact factor: 19.871

5.  Related individuals with different androgen receptor gene deletions.

Authors:  H E MacLean; S Chu; G L Warne; J D Zajac
Journal:  J Clin Invest       Date:  1993-03       Impact factor: 14.808

6.  Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.

Authors:  S Zoppi; C M Wilson; M D Harbison; J E Griffin; J D Wilson; M J McPhaul; M Marcelli
Journal:  J Clin Invest       Date:  1993-03       Impact factor: 14.808

Review 7.  Androgen resistance due to mutation of the androgen receptor.

Authors:  L Pinsky; M Trifiro; M Kaufman; L K Beitel; A Mhatre; P Kazemi-Esfarjani; N Sabbaghian; R Lumbroso; C Alvarado; M Vasiliou
Journal:  Clin Invest Med       Date:  1992-10       Impact factor: 0.825

8.  A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.

Authors:  R Wooster; J Mangion; R Eeles; S Smith; M Dowsett; D Averill; P Barrett-Lee; D F Easton; B A Ponder; M R Stratton
Journal:  Nat Genet       Date:  1992-10       Impact factor: 38.330

9.  The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate.

Authors:  D B Lubahn; D R Joseph; M Sar; J Tan; H N Higgs; R E Larson; F S French; E M Wilson
Journal:  Mol Endocrinol       Date:  1988-12

Review 10.  Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance.

Authors:  M J McPhaul; M Marcelli; S Zoppi; J E Griffin; J D Wilson
Journal:  J Clin Endocrinol Metab       Date:  1993-01       Impact factor: 5.958

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  5 in total

1.  Androgen insensitivity with mental retardation: a contiguous gene syndrome?

Authors:  H R Davies; I A Hughes; M O Savage; C A Quigley; M Trifiro; L Pinsky; T R Brown; M N Patterson
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

2.  Isolation and characterization of the androgen receptor mutants with divergent transcriptional activity in response to hydroxyflutamide.

Authors:  C Wang; W J Young; C Chang
Journal:  Endocrine       Date:  2000-02       Impact factor: 3.633

Review 3.  Phenotypic diversity in siblings with partial androgen insensitivity syndrome.

Authors:  B A Evans; I A Hughes; C L Bevan; M N Patterson; J W Gregory
Journal:  Arch Dis Child       Date:  1997-06       Impact factor: 3.791

4.  The Androgen Receptor Gene Mutations Database.

Authors:  B Gottlieb; H Lehvaslaiho; L K Beitel; R Lumbroso; L Pinsky; M Trifiro
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

5.  Genome-wide analysis of androgen receptor binding and transcriptomic analysis in mesenchymal subsets during prostate development.

Authors:  Claire Nash; Nadia Boufaied; Dunarel Badescu; Yu Chang Wang; Miltiadis Paliouras; Mark Trifiro; Ioannis Ragoussis; Axel A Thomson
Journal:  Dis Model Mech       Date:  2019-07-25       Impact factor: 5.758

  5 in total

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