Literature DB >> 7937057

The androgen receptor gene mutations database.

M N Patterson1, I A Hughes, B Gottlieb, L Pinsky.   

Abstract

The androgen receptor gene mutations database is a comprehensive listing of mutations published in journals and meetings proceedings. The majority of mutations are point mutations identified in patients with androgen insensitivity syndrome. Information is included regarding the phenotype, the nature and location of the mutations, as well as the effects of the mutations on the androgen binding activity of the receptor. The current version of the database contains 149 entries, of which 114 are unique mutations. The database is available from EMBL (NetServ@EMBL-Heidelberg.DE) or as a Macintosh Filemaker file (mc33001@musica.mcgill.ca).

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Year:  1994        PMID: 7937057      PMCID: PMC308319     

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


  32 in total

1.  Molecular cloning of human and rat complementary DNA encoding androgen receptors.

Authors:  C S Chang; J Kokontis; S T Liao
Journal:  Science       Date:  1988-04-15       Impact factor: 47.728

2.  Cloning, structure and expression of a cDNA encoding the human androgen receptor.

Authors:  J Trapman; P Klaassen; G G Kuiper; J A van der Korput; P W Faber; H C van Rooij; A Geurts van Kessel; M M Voorhorst; E Mulder; A O Brinkmann
Journal:  Biochem Biophys Res Commun       Date:  1988-05-31       Impact factor: 3.575

3.  Cloning of human androgen receptor complementary DNA and localization to the X chromosome.

Authors:  D B Lubahn; D R Joseph; P M Sullivan; H F Willard; F S French; E M Wilson
Journal:  Science       Date:  1988-04-15       Impact factor: 47.728

4.  Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.

Authors:  O Hiort; Q Huang; G H Sinnecker; A Sadeghi-Nejad; K Kruse; H J Wolfe; D W Yandell
Journal:  J Clin Endocrinol Metab       Date:  1993-07       Impact factor: 5.958

5.  Characterization of two point mutations in the androgen receptor gene of patients with perineoscrotal hypospadia.

Authors:  F Kaspar; A C Cato; A Denninger; J Eberle; C Radmayr; J Glatzl; G Bartsch; H Klocker
Journal:  J Steroid Biochem Mol Biol       Date:  1993-12       Impact factor: 4.292

6.  Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome.

Authors:  T R Brown; D B Lubahn; E M Wilson; D R Joseph; F S French; C J Migeon
Journal:  Proc Natl Acad Sci U S A       Date:  1988-11       Impact factor: 11.205

7.  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

8.  Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

Authors:  J A Batch; D M Williams; H R Davies; B D Brown; B A Evans; I A Hughes; M N Patterson
Journal:  Hum Mol Genet       Date:  1992-10       Impact factor: 6.150

9.  Androgen receptor gene mutation in male breast cancer.

Authors:  J M Lobaccaro; S Lumbroso; C Belon; F Galtier-Dereure; J Bringer; T Lesimple; M Namer; B F Cutuli; H Pujol; C Sultan
Journal:  Hum Mol Genet       Date:  1993-11       Impact factor: 6.150

10.  Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene.

Authors:  H F Sleddens; B A Oostra; A O Brinkmann; J Trapman
Journal:  Hum Mol Genet       Date:  1993-04       Impact factor: 6.150

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  7 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.  The EMBL Nucleotide Sequence Database.

Authors:  G Stoesser; P Sterk; M A Tuli; P J Stoehr; G N Cameron
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

Review 3.  Human gene mutations causing infertility.

Authors:  L C Layman
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

4.  A mutant form of ERα associated with estrogen insensitivity affects the coupling between ligand binding and coactivator recruitment.

Authors:  Yin Li; Laurel A Coons; René Houtman; Kathryn E Carlson; Teresa A Martin; Christopher G Mayne; Diana Melchers; Tanner B Jefferson; J Tyler Ramsey; John A Katzenellenbogen; Kenneth S Korach
Journal:  Sci Signal       Date:  2020-09-22       Impact factor: 8.192

5.  The androgen receptor gene mutations database.

Authors:  B Gottlieb; M Trifiro; R Lumbroso; D M Vasiliou; L Pinsky
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

6.  Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant.

Authors:  Samuel D Quaynor; Earl W Stradtman; Hyung-Goo Kim; Yiping Shen; Lynn P Chorich; Derek A Schreihofer; Lawrence C Layman
Journal:  N Engl J Med       Date:  2013-07-11       Impact factor: 91.245

7.  Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene.

Authors:  Maria Santa Rocca; Margherita Ferrarini; Aichi Msaki; Cinzia Vinanzi; Marco Ghezzi; Maurizio De Rocco Ponce; Carlo Foresta; Alberto Ferlin
Journal:  Mol Genet Genomic Med       Date:  2020-03-25       Impact factor: 2.183

  7 in total

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