|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
At least three pathological situations are associated with abnormal androgen receptor structure and function: androgen insensitivity syndrome (AIS), spinal and bulbar muscular atrophy (SBMA) and prostate cancer.
|
7626493 |
1995 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The authors describe the novel occurrence of homozygosity for the CAG expansion in the androgen receptor gene causing Kennedy disease in two sisters (ages 34 and 42).
|
12221177 |
2002 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SBMA is caused by polyglutamine repeat expansions in the androgen receptor (AR).
|
15003169 |
2004 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The female heterozygote carried one expanded allele of the androgen receptor gene with CAG repeats numbering in the Kennedy's disease range (44 CAGs),with the normal allele numbering in the uppernormal range (28 CAGs).
|
14999487 |
2004 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal-bulbar muscle atrophy (SBMA) or also named Kennedy's Disease is caused by a polyglutamine expansion (PolyQ) of the coding region of the androgen receptor (AR).
|
26563449 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An expanded trinucleotide repeat (CAG > 37) in the androgen receptor gene (AR), encoding glutamine, is the mutation responsible for Kennedy's disease.
|
30006721 |
2019 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene.
|
9580659 |
1998 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of SBMA is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine (polyQ) tract, in the first exon of the androgen receptor (AR) gene.
|
14526186 |
2003 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Expansion of the trinucleotide repeat (CAG)n in the first exon of the androgen receptor gene is associated with a rare motor neuron disorder, X-linked spinal and bulbar muscular atrophy.
|
1303283 |
1992 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We review the genetic and clinical features of spinobulbar muscular atrophy (SBMA), a progressive neuromuscular disorder caused by a CAG/glutamine tract expansion in the androgen receptor.
|
24040817 |
2013 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic studied showed an expansion of CAG repeat in the first exon of the androgen receptor gene, which suggests diagnosis of X-SBMA.
|
12445917 |
2002 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Kennedy's disease is a degenerative disease of motor neurons in which the causative mutation is expansion of a CAG/polyglutamine tract near the 5' end of the androgen receptor gene.
|
12165558 |
2002 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal bulbar muscular atrophy (SBMA) (also known as Kennedy's disease) is a motor degenerative disease caused by an amplification of the polyglutamine stretch at the N-terminus of the human androgen receptor (AR).
|
25182772 |
2014 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy.
|
1461383 |
1992 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Expansion of the polyglutamine repeat region of the androgen receptor (AR) results in Kennedy's disease, a neurological disorder typified by degeneration of motor neurons in the brain stem and spinal cord.
|
14698481 |
2004 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A triplet instability in the X-linked androgen receptor gene causes spinal and bulbar muscular atrophy.
|
9437788 |
1998 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although the linkage of polyglutamine (poly-Q) repeat expansion in the androgen receptor (AR) to Kennedy's disease (X-linked spinal and bulbar muscular atrophy) was a major step forward, the detailed molecular mechanism of how the change in poly-Q length contributes to the disease remains unclear.
|
10400640 |
1999 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This fact suggests that the DNA diagnosis by analysis of the androgen receptor gene is very useful to distinguish Kennedy's disease from other forms of BSMA.
|
8187377 |
1994 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
During the 2 decades since the discovery of the AR gene mutation in SBMA, basic and clinical research have deepened our understanding of the disease phenotype and pathophysiology.
|
22158719 |
2012 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
|
2062380 |
1991 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that p62 provides two different therapeutic targets in SBMA pathogenesis: (1) autophagy-dependent degradation and (2) benevolent inclusion formation of the mutant AR.
|
23637164 |
2013 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nuclear inclusions of mutant androgen receptor protein are found in these model systems and in autopsy samples from patients with Kennedy's disease.
|
10434308 |
1999 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a polyglutamine disease caused by the expansion of a CAG repeat in the androgen receptor (AR) gene.
|
12372280 |
2002 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we used a transgenic mouse model for spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease caused by polyglutamine expansion in the androgen receptor (AR), to test gene silencing by a newly identified AR-targeting miRNA, miR-298.
|
30148479 |
2018 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that HSP70 overexpression ameliorates SBMA phenotypes in mice by reducing nuclear-localized mutant AR, probably caused by enhanced mutant AR degradation.
|
12657679 |
2003 |