|
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 |
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 |
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
|
2062380 |
1991 |
|
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Androgen resistance due to mutation of the androgen receptor.
|
1458719 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Reduced transcriptional regulatory competence of the androgen receptor in X-linked spinal and bulbar muscular atrophy.
|
8252045 |
1993 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We confirmed a mutation of the androgen receptor gene as the cause for Kennedy's disease, also called "X-linked recessive spinal and bulbar muscular atrophy" or "bulbospinal neuronopathy."
|
8469342 |
1993 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The recent identification of a mutation of the androgen receptor gene in Kennedy's disease or X-linked bulbospinal neuronopathy, a rare form of progressive lower motor neurone degeneration, also associated with clinical signs of androgen insensitivity, raises the possibility that androgen function may be disturbed in other motor neurone disorders, including ALS.
|
8400860 |
1993 |
|
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 |
Biomarker
|
disease |
BEFREE |
Expansion of the CAG repeat in the androgen receptor (AR) has been correlated with the incidence and severity of X-linked spinal and bulbar muscular atrophy (Kennedy's disease).
|
8065934 |
1994 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, androgen receptor gene alterations have been recently described in two unrelated diseases: male breast cancer and spinal and bulbar muscular atrophy.
|
7920176 |
1994 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
His lead levels were not elevated, but an androgen receptor mutation identified on the X chromosome for both brothers confirmed the diagnosis of X-linked bulbospinomuscular atrophy (Kennedy's disease).
|
8170488 |
1994 |