Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome

Jarmo Jääskeläinen; Nigel P. Mongan; Sharon Harland; Ieuan A. Hughes

doi:10.1002/humu.9405

Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome

Human Mutation ◽

10.1002/humu.9405 ◽

2006 ◽

Vol 27 (3) ◽

pp. 291-291 ◽

Cited By ~ 9

Author(s):

Jarmo Jääskeläinen ◽

Nigel P. Mongan ◽

Sharon Harland ◽

Ieuan A. Hughes

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome

Human Mutation ◽

10.1002/humu.9221 ◽

2004 ◽

Vol 23 (3) ◽

pp. 287-287 ◽

Cited By ~ 14

Author(s):

Helen E. MacLean ◽

Emma M.A. Ball ◽

Georgia Rekaris ◽

Garry L. Warne ◽

Jeffrey D. Zajac

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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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 Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Stop Codons ◽

Exon 1 ◽

International Collaborative ◽

New Mutations

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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 ◽

Androgen Insensitivity Syndrome ◽

Polypyrimidine Tract ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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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 ◽

Androgen Insensitivity Syndrome ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/j.jsbmb.2006.06.016 ◽

2006 ◽

Vol 101 (1) ◽

pp. 1-10 ◽

Cited By ~ 7

Author(s):

Ralf Werner ◽

Jenny Schütt ◽

Sabine Hannema ◽

Albrecht Röpke ◽

Peter Wieacker ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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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 Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Terminal Domain

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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 Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Xy Female

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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 Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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A Novel Mutation of the Androgen Receptor Gene Ligand-Binding Domain (V734P) Associated with the Complete Androgen Insensitivity Syndrome

Clinical Pediatric Endocrinology ◽

10.1297/cpe.4.149 ◽

1995 ◽

Vol 4 (2) ◽

pp. 149-154

Author(s):

Ryo Ogawa ◽

Hideki Yagi ◽

Tomohisa Nagashima ◽

Kazumichi Onigata ◽

Yoko Nomura ◽

...

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Binding Domain ◽

Ligand Binding Domain ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

World Journal of Clinical Cases ◽

10.12998/wjcc.v9.i35.11036 ◽

2021 ◽

Vol 9 (35) ◽

pp. 11036-11042

Author(s):

Ka-Na Wang ◽

Qing-Qing Chen ◽

Yi-Lin Zhu ◽

Chun-Lin Wang

Keyword(s):

Case Report ◽

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

Download Full-text

Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome

Novel androgen receptor gene mutations in Australian patients with complete 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

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

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

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs

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

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

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

A Novel Mutation of the Androgen Receptor Gene Ligand-Binding Domain (V734P) Associated with the Complete Androgen Insensitivity Syndrome

Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

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