A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

Synonymous Mutation ◽

Androgen Insensitivity ◽

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.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.85.21.8151 ◽

1988 ◽

Vol 85 (21) ◽

pp. 8151-8155 ◽

Cited By ~ 110

Author(s):

T. R. Brown ◽

D. B. Lubahn ◽

E. M. Wilson ◽

D. R. Joseph ◽

F. S. French ◽

...

Keyword(s):

Androgen Receptor ◽

Genetic Heterogeneity ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Steroid Binding ◽

Complete Androgen Insensitivity Syndrome due to Mutations in the DNA-Binding Domain of the Human Androgen Receptor Gene

Sexual Development ◽

10.1159/000492261 ◽

2018 ◽

Cited By ~ 1

Author(s):

Pooja Chauhan ◽

Anjali Rani ◽

Surya K. Singh ◽

Amit K. Rai

Keyword(s):

Androgen Receptor ◽

Dna Binding ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Dna Binding Domain ◽

Androgen Insensitivity ◽

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.2637 ◽

2016 ◽

Vol 8 (2) ◽

pp. 232-235

Author(s):

Cemil Koçyiğit ◽

Serdar Sarıtaş ◽

Gönül Çatlı ◽

Hüseyin Onay ◽

Bumin Nuri Dündar

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Partial Androgen Insensitivity Syndrome ◽

Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations

Fertility and Sterility ◽

10.1016/j.fertnstert.2009.03.057 ◽

2010 ◽

Vol 94 (2) ◽

pp. 472-476 ◽

Cited By ~ 24

Author(s):

Pascal Philibert ◽

Françoise Audran ◽

Catherine Pienkowski ◽

Isabelle Morange ◽

Birgit Kohler ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Stop Codons ◽

Exon 1 ◽

International Collaborative ◽

New Mutations

A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

Asian Journal of Andrology ◽

10.4103/aja.aja_32_17 ◽

2018 ◽

Vol 20 (3) ◽

pp. 308 ◽

Cited By ~ 2

Author(s):

Yue-Qiu Tan ◽

Shi-Min Yuan ◽

Huan Huang ◽

Chao-Feng Tu ◽

Juan Du ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Polypyrimidine Tract ◽

Androgen Insensitivity

Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene

Steroids ◽

10.1016/j.steroids.2018.05.012 ◽

2018 ◽

Vol 137 ◽

pp. 64-69 ◽

Cited By ~ 4

Author(s):

Song Wang ◽

Peng Xia ◽

Nicholas A. Cacalano ◽

Haikun Xu ◽

Dejun Li

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Androgen Insensitivity

Complete Androgen Insensitivity Caused by a New Frameshift Deletion of Two Base Pairs in Exon 1 of the Human Androgen Receptor Gene

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.84.5.1751 ◽

1999 ◽

Vol 84 (5) ◽

pp. 1751-1753 ◽

Cited By ~ 3

Author(s):

B. Thiele

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Base Pairs ◽

Androgen Insensitivity ◽

Frameshift Deletion ◽

Exon 1 ◽

A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome

Journal of Obstetrics and Gynaecology ◽

10.3109/01443615.2012.698335 ◽

2012 ◽

Vol 32 (7) ◽

pp. 707-708

Author(s):

Z. Cai ◽

Z. S. Li ◽

X. Y. Liu

Keyword(s):

Androgen Receptor ◽

Nonsense Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Terminal Domain

An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome

Journal of Endocrinological Investigation ◽

10.1007/bf03344130 ◽

2006 ◽

Vol 29 (5) ◽

pp. 457-461

Author(s):

C. Moretti ◽

T. Odorisio ◽

R. Geremia ◽

P. Grimaldi

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Large Deletion ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Xy Female

Novel Androgen Receptor Gene Mutation in Patient With Complete Androgen Insensitivity Syndrome

Urology ◽

10.1016/j.urology.2012.03.028 ◽

2012 ◽

Vol 80 (1) ◽

pp. 216-218 ◽

Cited By ~ 2

Author(s):

Ye Ning ◽

Feng Zhang ◽

Yong Zhu ◽

Huixing Chen ◽

Jianqi Lu ◽

...

Keyword(s):

Androgen Receptor ◽

Gene Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity