Dystonia 6, torsion (disorder)
|
0.980 |
Biomarker
|
disease |
BEFREE |
Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are lacking.
|
31817799 |
2019 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Dystonia 6 (DYT6) is an autosomal dominant dystonia caused by loss-of-function mutations in the zinc finger transcription factor THAP1.
|
30590536 |
2019 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
|
28299530 |
2017 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6).
|
26610312 |
2016 |
Dystonia 6, torsion (disorder)
|
0.980 |
Biomarker
|
disease |
MGD |
Like other genetic primary dystonias, DYT6 patients have no characteristic neuropathology, and mechanisms by which mutations in THAP1 cause dystonia are unknown.
|
26376866 |
2015 |
Dystonia 6, torsion (disorder)
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Persistent chorea in DYT6, due to anticholinergic therapy.
|
26275586 |
2015 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.
|
26486352 |
2015 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.
|
25385508 |
2015 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
|
24976531 |
2014 |
Dystonia 6, torsion (disorder)
|
0.980 |
Biomarker
|
disease |
BEFREE |
Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
|
25155315 |
2014 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Here we report a novel mutation in the THAP1 gene identified in a Polish family with DYT6 phenotype - the c.15C>G substitution in exon 1 introducing the missense mutation p.Cys5Trp within the N-terminal THAP domain.
|
25168324 |
2014 |
Dystonia 6, torsion (disorder)
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
|
24976531 |
2014 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
|
21800139 |
2012 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Mutations in THAP1 have been associated with dystonia 6 (DYT6).
|
21847143 |
2012 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in THAP1 have been associated with dystonia 6 (DYT6).
|
21847143 |
2012 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
|
22377579 |
2012 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in THAP1 have been associated with dystonia 6 (DYT6).
|
21847143 |
2012 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
|
21839475 |
2011 |
Dystonia 6, torsion (disorder)
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
|
21793105 |
2011 |
Dystonia 6, torsion (disorder)
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations in THAP1 define the nuclear localization signal.
|
21495072 |
2011 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
|
21425341 |
2011 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
|
20825472 |
2011 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
|
21520283 |
2011 |
Dystonia 6, torsion (disorder)
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.
|
21793105 |
2011 |
Dystonia 6, torsion (disorder)
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6.
|
21425335 |
2011 |