|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.
|
1307250 |
1992 |
|
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 |
Biomarker
|
disease |
BEFREE |
Filter retardation assays indicated that aggregation of ARs following dihydrotestosterone treatment in neurons derived from SBMA-iPSCs increases significantly compared with neurological control iPSCs, easily recapitulating the pathological feature of mutant ARs in SBMA-iPSCs.
|
23364790 |
2013 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.
|
20011049 |
2009 |
|
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 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy is unique among the polyglutamine diseases in that the toxicity of the mutant protein, the androgen receptor, is ligand-dependent.
|
22668795 |
2012 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The clinical and molecular spectrum of androgen insensitivity syndromes.
|
8723113 |
1996 |
|
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 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA or Kennedy's disease) is a fatal neurodegenerative disease characterized by the selective loss of motor neurons in the bulbar region of the brain and in the anterior horns of the spinal cord.
|
20621188 |
2010 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
9856504 |
1998 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
There is increasing evidence that the ligand of AR and molecular chaperones play a crucial role in the pathogenesis of SBMA.
|
17359355 |
2007 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity.
|
16365032 |
2006 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
|
9039340 |
1996 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Huntingtin-associated protein 1 (HAP1) is a neuronal interactor with causatively polyglutamine (polyQ)-expanded huntingtin in Huntington's disease and also associated with pathologically polyQ-expanded androgen receptor (AR) in spinobulbar muscular atrophy (SBMA), being considered as a protective factor against neurodegenerative apoptosis.
|
27984179 |
2017 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
|
19463997 |
2010 |