Literature DB >> 10425033

Update of the androgen receptor gene mutations database.

B Gottlieb1, L K Beitel, R Lumbroso, L Pinsky, M Trifiro.   

Abstract

The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 309 to 374 during the past year. We have expanded the database by adding information on AR-interacting proteins; and we have improved the database by identifying those mutation entries that have been updated. Mutations of unknown significance have now been reported in both the 5' and 3' untranslated regions of the AR gene, and in individuals who are somatic mosaics constitutionally. In addition, single nucleotide polymorphisms, including silent mutations, have been discovered in normal individuals and in individuals with male infertility. A mutation hotspot associated with prostatic cancer has been identified in exon 5. The database is available on the internet (http://www.mcgill.ca/androgendb/), from EMBL-European Bioinformatics Institute (ftp.ebi.ac.uk/pub/databases/androgen), or as a Macintosh FilemakerPro or Word file (MC33@musica.mcgill.ca). Copyright 1999 Wiley-Liss, Inc.

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Year:  1999        PMID: 10425033     DOI: 10.1002/(SICI)1098-1004(1999)14:2<103::AID-HUMU2>3.0.CO;2-A

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  7 in total

1.  Marker-assisted congenic screening (MACS): a database tool for the efficient production and characterization of congenic lines.

Authors:  Stephan C Collins; Robert H Wallis; Karin Wallace; Marie Thérèse Bihoreau; Dominique Gauguier
Journal:  Mamm Genome       Date:  2003-05       Impact factor: 2.957

2.  Crystallographic structures of the ligand-binding domains of the androgen receptor and its T877A mutant complexed with the natural agonist dihydrotestosterone.

Authors:  J S Sack; K F Kish; C Wang; R M Attar; S E Kiefer; Y An; G Y Wu; J E Scheffler; M E Salvati; S R Krystek; R Weinmann; H M Einspahr
Journal:  Proc Natl Acad Sci U S A       Date:  2001-04-24       Impact factor: 11.205

3.  Proteomic analyses to identify novel therapeutic targets for the treatment of advanced prostate cancer.

Authors:  Barbara Comuzzi; Marianne D Sadar
Journal:  Cellscience       Date:  2006-07-27

4.  Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?

Authors:  Umberto Valente; Cinzia Vinanzi; Savina Dipresa; Riccardo Selice; Massimo Menegazzo; Massimo Iafrate; Carlo Foresta; Andrea Garolla
Journal:  Sci Rep       Date:  2017-06-13       Impact factor: 4.379

5.  Mutational analysis of the human FATE gene in 144 infertile men.

Authors:  Christian Olesen; Joachim Silber; Hans Eiberg; Erik Ernst; Karsten Petersen; Svend Lindenberg; Niels Tommerup
Journal:  Hum Genet       Date:  2003-06-14       Impact factor: 4.132

6.  Testicular cancer in androgen insensitivity syndrome in a Mexican population.

Authors:  José Aguilar-Ponce; Fátima Chilaca Rosas; Carlos Molina Calzada; Martín Granados García; Miguel Angel Jiménez Ríos; Jaime De la Garza Salazar
Journal:  Clin Transl Oncol       Date:  2008-12       Impact factor: 3.405

7.  Pathogenesis of prostate cancer and hormone refractory prostate cancer.

Authors:  J S Girling; H C Whitaker; I G Mills; D E Neal
Journal:  Indian J Urol       Date:  2007-01
  7 in total

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