×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.
16595706
2006
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Structural basis for accommodation of nonsteroidal ligands in the androgen receptor.
16129672
2005
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
14756668
2004
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
We also outline other recently described mutations of the androgen receptor gene (Xq11-12 ) which have been associated with AIS .
11744994
2002
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome .
11587068
2001
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome .
10690872
2000
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively.
10022458
1999
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.
10221770
1999
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome .
10458483
1999
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Eleven mutations in exon 1 of the androgen receptor gene (AR) have been identified in 15 individuals with Androgen Insensitivity syndrome (AIS ).
10571951
1999
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
We suggest regular molecular genetic analysis of the AR gene in 46,XY females with germ cell tumour and androgen insensitivity syndrome to detect differences in the specific regions of AR gene involved in early progression toward oncogenesis of the dysgenetic gonads.
10221692
1999
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation.
10404311
1999
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.
10590024
1999
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.
9610419
1998
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome .
9856504
1998
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Androgen insensitivity syndromes are due to defects in the androgen receptor gene.
9544375
1998
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.
9698822
1998
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Inherited and de novo androgen receptor gene mutations: investigation of single-case families.
9627582
1998
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation.
9851768
1998
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Several mutations have been described in the human androgen receptor gene including constitutional mutations in androgen insensitivity syndrome , somatic mutations in prostate cancer and triplet expansions in Kennedy's disease (Gottlieb et al.1997).
9554754
1998
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.
9106550
1997
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group.
9007482
1997
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
8990010
1997
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Seven patients with androgen insensitivity syndrome (AIS ) were subjected to molecular analysis of AR exons B-H by a similar protocol, except for the use of denaturing gradient gel electrophoresis (DGGE) for screening point mutations.
9160185
1997
×
Entrez Id:
367
Gene Symbol:
AR
AR
1.000
GeneticVariation
disease
UNIPROT
Androgen insensitivity syndrome (AIS ) is a disorder of male sexual differentiation caused by mutations in the androgen receptor (AR ) gene.
9328206
1997