Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Structural basis for accommodation of nonsteroidal ligands in the androgen receptor.
|
16129672 |
2005 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
11587068 |
2001 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
|
10690872 |
2000 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A case of complete testicular feminization: laparoscopic orchiectomy and analysis of androgen receptor gene mutation.
|
10404311 |
1999 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.
|
10590024 |
1999 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Androgen insensitivity syndromes are due to defects in the androgen receptor gene.
|
9544375 |
1998 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.
|
9698822 |
1998 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Inherited and de novo androgen receptor gene mutations: investigation of single-case families.
|
9627582 |
1998 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.
|
9106550 |
1997 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
|
8990010 |
1997 |
Androgen-Insensitivity Syndrome
|
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 |
Androgen-Insensitivity Syndrome
|
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 |