Literature DB >> 7981695

A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis.

T Tajima1, J Nakae, N Shinohara, K Fujieda.   

Abstract

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Year:  1994        PMID： 7981695     DOI： 10.1093/hmg/3.7.1187

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  9 in total

Review 1.  SRY protein function in sex determination: thinking outside the box.

Authors:  Liang Zhao; Peter Koopman
Journal:  Chromosome Res       Date:  2012-01       Impact factor: 5.239

2.  A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.

Authors:  J R Bilbao; L Loridan; L Castaño
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Authors:  M Schmitt-Ney; H Thiele; P Kaltwasser; B Bardoni; M Cisternino; G Scherer
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

Review 4.  The molecular genetics of human sex determination.

Authors:  U Wolf
Journal:  J Mol Med (Berl)       Date:  1995-07       Impact factor: 4.599

5.  Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

Authors:  C Kwok; C Tyler-Smith; B B Mendonca; I Hughes; G D Berkovitz; P N Goodfellow; J R Hawkins
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

6.  Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.

Authors:  Joseph D Racca; Yen-Shan Chen; Yanwu Yang; Nelson B Phillips; Michael A Weiss
Journal:  J Biol Chem       Date:  2016-08-30       Impact factor: 5.157

7.  A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.

Authors:  Mohammad Shahid; Varinderpal S Dhillon; Hesham Saleh Khalil; Shameemul Haque; Swaraj Batra; Syed Akhtar Husain; L H J Looijenga
Journal:  BMC Med Genet       Date:  2010-09-19       Impact factor: 2.103

8.  Human SRY inhibits beta-catenin-mediated transcription.

Authors:  Pascal Bernard; Helena Sim; Kevin Knower; Eric Vilain; Vincent Harley
Journal:  Int J Biochem Cell Biol       Date:  2008-06-28       Impact factor: 5.085

9.  A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.

Authors:  Wufang Fan; Bei Wang; Shanshan He; Tengfei Zhang; Chenxing Yin; Yunping Chen; Shuqi Zheng; Jixia Zhang; Lin Li
Journal:  PLoS One       Date:  2016-12-28       Impact factor: 3.240
  9 in total

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