In vitro functional characterization of androgen receptor gene mutations at arginine p.856 of the ligand-binding-domain associated with androgen insensitivity syndrome

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 ◽

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 ◽

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

Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations

Clinica Chimica Acta ◽

10.1016/j.cca.2015.12.012 ◽

2016 ◽

Vol 453 ◽

pp. 123-130 ◽

Cited By ~ 3

Author(s):

Abilash V.G. ◽

Radha S. ◽

Marimuthu K.M. ◽

Thangaraj K. ◽

Arun S. ◽

...

Keyword(s):

Androgen Receptor ◽

Molecular Analysis ◽

In Silico ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

South Indian ◽

In Silico Characterization

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 ◽

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 ◽

Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients

Journal of Genetics ◽

10.1007/s12041-016-0716-0 ◽

2016 ◽

Vol 95 (4) ◽

pp. 911-921 ◽

Cited By ~ 2

Author(s):

BALACHANDRAN SARANYA ◽

GUNASEKARAN BHAVANI ◽

BRINDHA ARUMUGAM ◽

MEENA JAYASHANKAR ◽

SATHIYAVEDU THYAGARAJAN SANTHIYA

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Female Patients ◽

Xy Female

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 ◽

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

Journal of Molecular Medicine ◽

10.1007/s00109-005-0704-y ◽

2005 ◽

Vol 83 (12) ◽

pp. 1005-1013 ◽

Cited By ~ 24

Author(s):

P. M. Holterhus ◽

R. Werner ◽

U. Hoppe ◽

J. Bassler ◽

E. Korsch ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Clinical Phenotypes ◽

Molecular Features

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

Human Molecular Genetics ◽

10.1093/hmg/1.7.497 ◽

1992 ◽

Vol 1 (7) ◽

pp. 497-503 ◽

Cited By ~ 75

Author(s):

J. A. Batch ◽

D. M. Williams ◽

H. R. Davies ◽

B. D. Brown ◽

B. A. J. Evans ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Gene Mutations ◽

Androgen Receptor Gene ◽