|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation responsible for spino-bulbal muscular atrophy (SBMA or Kennedy disease).
|
1303195 |
1992 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.
|
1430233 |
1992 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
This finding provides direct evidence for abnormal androgen receptor function in some patients with SBMA.
|
1436532 |
1992 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Androgen resistance due to mutation of the androgen receptor.
|
1458719 |
1992 |
|
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 |
Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy.
|
1469423 |
1992 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
We were unable to find androgen receptor (AR) in the scrotal skin of three patients with SBMA, and propose that AR abnormality is the cause of the disease.
|
1513460 |
1992 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.
|
1598912 |
1992 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel primer extension method to detect the number of CAG repeats in the androgen receptor gene in families with X-linked spinal and bulbar muscular atrophy.
|
1734865 |
1992 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
|
2082179 |
1990 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities.
|
2222245 |
1990 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.
|
2332504 |
1990 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In more recent years, however, mutations in the AR gene have been described in a number of diverse clinical conditions, from male infertility to prostate and breast cancer through to a form of motor neurone disease (Kennedy's disease).
|
7489816 |
1995 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that structural alteration plus a reduced level of AR in the spinal cord are involved in the pathogenesis of SBMA, resulting in degeneration of motor neurons.
|
7515106 |
1994 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene.
|
7595622 |
1995 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Androgen receptor defects: historical, clinical, and molecular perspectives.
|
7671849 |
1995 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have performed AR gene molecular analysis in several members of a large family with KD as well as in 25 sporadic patients suffering from heterogeneous motoneuron disease (MND).
|
7702080 |
1995 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using a modified sperm typing protocol, the mutation frequency of the CAG repeat region at the androgen receptor locus has been measured using a rare semen sample from an individual with spinal and bulbar muscular atrophy (SBMA).
|
7757084 |
1995 |