×
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
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
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
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
GeneticVariation
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
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
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
UNIPROT
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
19345147
2009
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
20211909
2010
×
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
BEFREE
Further, we report that wild type THAP1 represses the expression of TOR1A, whereas dystonia 6 -associated mutant THAP1 results in decreased repression of TOR1A.
20976771
2010
×
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
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
19182804
2009
×
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
UNIPROT
Novel THAP1 sequence variants in primary dystonia.
20083799
2010
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
19908320
2009
×
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
Mutations in THAP1 have been associated with dystonia 6 (DYT6 ).
21847143
2012
×
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
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
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
20687191
2010
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
20669277
2010
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
UNIPROT
Mutation screening of the DYT6/THAP1 gene in Italy.
19908325
2009
×
Entrez Id:
55145
Gene Symbol:
THAP1
THAP1
0.980
GeneticVariation
disease
BEFREE
Blood samples from twelve individuals of three German families with DYT6 positive index cases were obtained to test for THAP1 mutations.Eight THAP1 MutC were identified.
20687193
2010
×
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