|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].
|
28186600 |
2017 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Overexpression of REGγ in a PC12 cell model of SBMA increased polyQ-expanded AR aggregation and contributed to polyQ-expanded AR toxicity in the presence of dihydrotestosterone (DHT).
|
28596723 |
2017 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
|
28117338 |
2017 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons.
|
28087734 |
2017 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SBMA is triggered by the binding of mutant AR to its natural ligands, testosterone and dihydrotestosterone (DHT).
|
28511915 |
2017 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of CAG repeats in the Androgen Receptor gene (AR).
|
28395737 |
2017 |
|
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 |
We used solution NMR to study at single-residue resolution a 156-residue proteolytic fragment of the androgen receptor that contains a polyQ tract associated with the disease spinobulbar muscular atrophy, also known as Kennedy disease.
|
27276254 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR).
|
26971100 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.
|
26980296 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked disease associated with the expansion of the CAG triplet repeat present in exon 1 of the androgen receptor (AR) gene.
|
26572535 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a late-onset neuromuscular disease caused by a polyglutamine expansion in the androgen receptor gene which results in progressive spinal and bulbar motor neuron degeneration, and muscle atrophy.
|
26576772 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
|
27899157 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SBMA is caused by expansions of a CAG trinucleotide repeat in the gene encoding the androgen receptor (AR).
|
26614347 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
From a list of predicted miRNAs that target human AR, we selected microRNA-298 (miR-298) for its ability to downregulate AR mRNA and protein levels when transfected in cells overexpressing wild-type and mutant AR and in SBMA patient-derived fibroblasts.
|
26755334 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypospadias is also a feature of undermasculinization with an underdeveloped urethra and penis; it has not been described as part of the SBMA phenotype but has been suggested to be associated with a prolonged CAG repeat in the AR gene.
|
26872663 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
|
27267075 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
The negative results of our study prompt to continue the search for potential disease modifiers in SBMA outside the AR gene.
|
27141859 |
2016 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
|
26778393 |
2015 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Synergic prodegradative activity of Bicalutamide and trehalose on the mutant androgen receptor responsible for spinal and bulbar muscular atrophy.
|
25122660 |
2015 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The enhanced interaction of PRMT6 and mutant AR leads to neurodegeneration in cell and fly models of SBMA.
|
25569348 |
2015 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.
|
25613104 |
2015 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates, thereby perturbing the protein quality control (PQC) system.
|
26490709 |
2015 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In spinal and bulbar muscular atrophy (SBMA), polyglutamine expansion within the androgen receptor (AR) causes progressive debilitating muscular atrophy and lower motor neuron loss in males.
|
26453288 |
2015 |
|
Bulbo-Spinal Atrophy, X-Linked
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by the expansion of a CAG repeat in the androgen receptor (AR) gene.
|
25168383 |
2015 |