×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
28299530
2017
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
CausalMutation
disease
CLINVAR
Persistent chorea in DYT6, due to anticholinergic therapy.
26275586
2015
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.
25385508
2015
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
CLINVAR
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
24976531
2014
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
CausalMutation
disease
CLINVAR
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
24976531
2014
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
BEFREE
Mutations in THAP1 have been associated with dystonia 6 (DYT6 ).
21847143
2012
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
CLINVAR
Mutations in THAP1 have been associated with dystonia 6 (DYT6 ).
21847143
2012
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.
22377579
2012
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
Mutations in THAP1 have been associated with dystonia 6 (DYT6 ).
21847143
2012
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
Novel THAP1 gene mutations in patients with primary dystonia from southwest China.
21839475
2011
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
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
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
CausalMutation
disease
CLINVAR
Truncating mutations in THAP1 define the nuclear localization signal.
21495072
2011
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.
21425341
2011
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
20825472
2011
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
CLINVAR
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
21520283
2011
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
This revealed 2 candidate regions including the THAP1 gene, where heterozygous mutations cause dystonia 6 .
21425335
2011
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
CausalMutation
disease
CLINVAR
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
21110056
2011