Complete Androgen Insensitivity Syndrome Caused by a Novel Mutation in the Ligand-Binding Domain of the Androgen Receptor: Functional Characterization

Binding Domain ◽

Ligand Binding Domain ◽

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 ◽

Binding Domain ◽

Ligand Binding Domain ◽

Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome

Asian Journal of Andrology ◽

10.1111/j.1745-7262.2008.00376.x ◽

2008 ◽

Vol 10 (4) ◽

pp. 687-691 ◽

Cited By ~ 8

Author(s):

Florina Raicu ◽

Rossella Giuliani ◽

Valentina Gatta ◽

Chiara Palka ◽

Paolo Guanciali Franchi ◽

...

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Binding Domain ◽

Ligand Binding Domain ◽

Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome

Human Genetics ◽

10.1007/s004390050864 ◽

1998 ◽

Vol 103 (4) ◽

pp. 529-431 ◽

Cited By ~ 11

Author(s):

Yvonne Lundberg Giwercman ◽

Andrej Nikoshkov ◽

Kristina Lindsten ◽

Birgitta Byström ◽

Å. Pousette ◽

...

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Binding Domain ◽

Ligand Binding Domain ◽

Androgen Insensitivity ◽

Functional Characterisation

Systematic and functional characterization of novel androgen receptor variants arising from alternative splicing in the ligand-binding domain

Oncogene ◽

10.1038/onc.2016.313 ◽

2016 ◽

Vol 36 (10) ◽

pp. 1440-1450 ◽

Cited By ~ 2

Author(s):

T Uo ◽

H Dvinge ◽

C C Sprenger ◽

R K Bradley ◽

P S Nelson ◽

...

Keyword(s):

Androgen Receptor ◽

Alternative Splicing ◽

Ligand Binding ◽

Functional Characterization ◽

Binding Domain ◽

Ligand Binding Domain ◽

Androgen Receptor Variants

Premature Termination Mutation (772Glu.RAR.Stop) in the Hormone-Binding Domain of the Androgen Receptor in a Patient with the Receptor-Negative Form of Complete Androgen Insensitivity Syndrome.

Endocrine Journal ◽

10.1507/endocrj.42.643 ◽

1995 ◽

Vol 42 (5) ◽

pp. 643-648 ◽

Cited By ~ 3

Author(s):

KYOSUKE IMASAKI ◽

TAIJIRO OKABE ◽

HIROSHI MURAKAMI ◽

KEINOSUKE FUJITA ◽

RYOICHI TAKAYANAGI ◽

...

Keyword(s):

Androgen Receptor ◽

Premature Termination ◽

Binding Domain ◽

Hormone Binding ◽

Androgen Insensitivity ◽

Hormone Binding Domain ◽

Negative Form

A novel mutation in the ligand-binding domain of the androgen receptor gene associated with scrotal hypospadias

American Journal of Biotechnology and Medical Research ◽

10.5455/ajbmr.20160426120757 ◽

2016 ◽

Vol 1 (1) ◽

pp. 16

Author(s):

Vikas Sharma ◽

Kumarasamy Thangaraj ◽

Akka Jyothy

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Binding Domain ◽

Ligand Binding Domain

A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia

Fertility and Sterility ◽

10.1016/j.fertnstert.2010.08.015 ◽

2011 ◽

Vol 95 (2) ◽

pp. 804.e19-804.e21 ◽

Cited By ~ 7

Author(s):

Vikas Sharma ◽

Rajender Singh ◽

Kumarasamy Thangaraj ◽

Akka Jyothy

Keyword(s):

Inguinal Hernia ◽

Androgen Receptor ◽

Dna Binding ◽

Binding Domain ◽

Dna Binding Domain ◽

Bilateral Inguinal Hernia ◽

A substitutional mutation in the DNA binding domain of the androgen receptor causes complete androgen insensitivity syndrome

Gynecological Endocrinology ◽

10.3109/09513599909167575 ◽

1999 ◽

Vol 13 (5) ◽

pp. 327-332 ◽

Cited By ~ 1

Author(s):

S. Komori ◽

K. Sakata ◽

H. Kasumi ◽

Y. Tsuji ◽

K. Hamada ◽

...

Keyword(s):

Androgen Receptor ◽

Dna Binding ◽

Binding Domain ◽

Dna Binding Domain ◽

A Novel Mutation in the CAG Triplet Region of Exon 1 of Androgen Receptor Gene Causes Complete Androgen Insensitivity Syndrome in a Large Kindred

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.84.5.1590 ◽

1999 ◽

Vol 84 (5) ◽

pp. 1590-1594 ◽

Cited By ~ 8

Author(s):

Y.-S. Zhu

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Exon 1

Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain

Molecular and Cellular Endocrinology ◽

10.1016/s0303-7207(97)00229-3 ◽

1998 ◽

Vol 137 (1) ◽

pp. 41-50 ◽

Cited By ~ 18

Author(s):

E Yong

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Three Dimensional ◽

Binding Domain ◽

Ligand Binding Domain ◽

Dimensional Structure ◽

Receptor Ligand ◽

Androgen Insensitivity ◽

Three Dimensional Structure