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

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.87.11.4411d ◽

1990 ◽

Vol 87 (11) ◽

pp. 4411-4411

Keyword(s):

Androgen Receptor ◽

Point Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Coding Region ◽

Androgen Insensitivity ◽

Exon Junctions ◽

The expansion of the CAG repeat in exon 1 of the human androgen receptor gene is associated with uterine endometrial carcinoma

Molecular Carcinogenesis ◽

10.1002/(sici)1098-2744(200003)27:3<237::aid-mc11>3.0.co;2-0 ◽

2000 ◽

Vol 27 (3) ◽

pp. 237-244 ◽

Cited By ~ 24

Author(s):

Masahiro Sasaki ◽

Rajvir Dahiya ◽

Seiichiro Fujimoto ◽

Mutuo Ishikawa ◽

Mitsuo Oshimura

Keyword(s):

Androgen Receptor ◽

Endometrial Carcinoma ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Cag Repeat ◽

Exon 1 ◽

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.86.23.9534 ◽

1989 ◽

Vol 86 (23) ◽

pp. 9534-9538 ◽

Cited By ~ 233

Author(s):

D. B. Lubahn ◽

T. R. Brown ◽

J. A. Simental ◽

H. N. Higgs ◽

C. J. Migeon ◽

...

Keyword(s):

Androgen Receptor ◽

Point Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Coding Region ◽

Androgen Insensitivity ◽

Exon Junctions ◽

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

The Journal of Steroid Biochemistry and Molecular Biology ◽

10.1016/j.jsbmb.2017.07.020 ◽

2017 ◽

Vol 174 ◽

pp. 14-16 ◽

Cited By ~ 13

Author(s):

Rafael Loch Batista ◽

Andresa di Santi Rodrigues ◽

Mirian Yumie Nishi ◽

Nathalia Lisboa Gomes ◽

José Antonio Diniz Faria ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

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 ◽

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 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 ◽

417: The Human Androgen Receptor Gene is a Primary Target of the WNT Signaling Pathway

The Journal of Urology ◽

10.1016/s0022-5347(18)32673-9 ◽

2006 ◽

Vol 175 (4S) ◽

pp. 136-136

Author(s):

Ralph Buttyan ◽

Xuezhen Yang ◽

Min-Wei Chen ◽

Debra L. Bemis ◽

Mitchell C. Benson ◽

...

Keyword(s):

Androgen Receptor ◽

Wnt Signaling ◽

Signaling Pathway ◽

Receptor Gene ◽

Wnt Signaling Pathway ◽

Androgen Receptor Gene ◽

Primary Target ◽

Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene

Nature Genetics ◽

10.1038/ng0894-531 ◽

1994 ◽

Vol 7 (4) ◽

pp. 531-535 ◽

Cited By ~ 59

Author(s):

Lin Zhang ◽

Esther P. Leeflang ◽

Jian Yu ◽

Norman Arnheim

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Trinucleotide Repeats ◽

Cag Trinucleotide Repeats ◽

Sperm Typing ◽

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