|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia.
|
20888558 |
2011 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Complete androgen insensitivity syndrome (CAIS) is a rare androgen receptor function disorder where phenotypic female has a male genotype.
|
20602105 |
2010 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Over a 10-year period (1997 to 2007), we identified 78 AR gene mutations in 105 patients with CAIS; 21 of them were located in exon 1, and 13 of these were new mutations.
|
19463997 |
2010 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS).
|
20150575 |
2010 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype.
|
19732585 |
2009 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our study extends the spectrum of exon 1 mutations in the AR gene leading to CAIS.
|
17714709 |
2008 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators.
|
18097502 |
2008 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
MGD |
TSPY expression is variably altered in transgenic mice with testicular feminization.
|
18401008 |
2008 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have analyzed the androgen receptor missense mutations P723S, P904S, and H917R, clinically associated with CAIS, which were described to have a normal maximum androgen binding (Bmax) but elevated equilibrium dissociation constants (Kd's) and compared their properties with the F916X deletion mutant, leading to the loss of the last four amino acids of the AR.
|
18577874 |
2008 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A naturally occurring mutation in the human androgen receptor of a subject with complete androgen insensitivity confers binding and transactivation by estradiol.
|
17011702 |
2007 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The genetic basis for CAIS in this large family is the missense mutation, D732Y, in exon 5 of the androgen receptor ligand-binding domain.
|
17229664 |
2007 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
MGD |
Disruption of prostate epithelial androgen receptor impedes prostate lobe-specific growth and function.
|
17317769 |
2007 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel insertion of a cysteine residue in the first zinc finger of the AR DNA-binding domain (N2045_2047dupCTG) was found in CAIS patient P3.
|
17937062 |
2007 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present paper describes a new de novo non-sense mutation in exon 1 (K141Z) of the androgen receptor gene (AR) and the expression in CAIS testis of aromatase, estrogen receptors, as well as proliferation- and apoptosis-associated proteins.
|
17852420 |
2007 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We aimed to study the expression of the different forms of the AR in two CAIS patients in relation to the development of male internal genital structures.
|
17408421 |
2007 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
BEFREE |
To address this, we examined the role of normal AR function in SBMA by crossing a highly representative AR YAC transgenic mouse model with 100 glutamines (AR100) and a corresponding control (AR20) onto an AR null (testicular feminization; Tfm) background.
|
16772330 |
2006 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.
|
16449235 |
2006 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
|
16470553 |
2006 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata.
|
16950754 |
2006 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome.
|
16794370 |
2006 |
|
Testicular Feminization
|
0.600 |
Biomarker
|
disease |
BEFREE |
This review summarizes the most recent information on two pathologies linked to mutations of the androgen receptor, namely, the complete androgen insensitivity syndrome (CAIS) and the spinal and bulbar muscular atrophy (SBMA or Kennedy's disease).
|
16388114 |
2005 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The identification of an AR mutation in a girl with CAIS provides important information, because of the syndrome's genetic heterogeneity.
|
15813610 |
2005 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The N-terminus encoded by the first exon of the AR-gene usually harbors disruptive mutations associated with complete androgen insensitivity syndrome (CAIS) while missense mutations related with partial androgen insensitivity syndrome (PAIS) are seemingly rare.
|
16151980 |
2005 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our objective was to establish a transient transfection method for primary human fibroblasts enabling functional characterization of wild-type (wt) and mutant androgen receptor (AR) plasmid constructs, corresponding to partial and complete androgen insensitivity syndrome (PAIS/CAIS).
|
15812177 |
2005 |
|
Testicular Feminization
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The two sisters have complete androgen insensitivity (normal female appearance and an XY karyotype) due to a novel mutation, a C-to-G transversion in intron 2 of the androgen receptor gene, resulting in an aberrant splicing leading to an insertion of 66 nucleotides in the mRNA.
|
15941919 |
2005 |