(Q30514157)

11 August 2017

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases (English)

1 reference

11 August 2017

5

Zbigniew K Wszolek

1 reference

11 August 2017

Mark S LeDoux

1

1 reference

11 August 2017

Jianfeng Xiao

2

1 reference

11 August 2017

Monika Rudzińska

3

1 reference

11 August 2017

Robert W Bastian

4

1 reference

11 August 2017

Jay A Van Gerpen

6

1 reference

11 August 2017

Andreas Puschmann

7

1 reference

11 August 2017

Dragana Momčilović

8

1 reference

11 August 2017

Satya R Vemula

9

1 reference

11 August 2017

Yu Zhao

10

1 reference

11 August 2017

28 February 2012

1 reference

11 August 2017

12

1 reference

Parkinsonism and Related Disorders

inferred from page(s)

published in

1 reference

11 August 2017

18

1 reference

11 August 2017

5

1 reference

11 August 2017

414-425

1 reference

Identification and functional analysis of novel THAP1 mutations

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

An African-American family with dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Impaired sequence learning in dystonia mutation carriers: a genotypic effect

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Hereditary dystonia as a neurodevelopmental circuit disorder: Evidence from neuroimaging

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Late-gestational systemic hypoxia leads to a similar early gene response in mouse placenta and developing brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

MutationTaster evaluates disease-causing potential of sequence alterations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Adult-onset leg dystonia due to a missense mutation in THAP1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Europe the continent with the lowest fertility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

A method and server for predicting damaging missense mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Structural determinants of specific DNA-recognition by the THAP zinc finger

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Novel THAP1 sequence variants in primary dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Cerebellothalamocortical connectivity regulates penetrance in dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Meige syndrome: What's in a name?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

High-throughput mutational analysis of TOR1A in primary dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Genome-scale DNA methylation maps of pluripotent and differentiated cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Increased cerebellar activation during sequence learning in DYT1 carriers: an equiperformance study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Thalamic metabolism and symptom onset in preclinical Huntington's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Fertility and abortion rates in the United States, 1960-2002.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13--36.32 in an Italian family with cranial-cervical or upper limb onset

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The DYT1 phenotype and guidelines for diagnostic testing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Pallidal deep brain stimulation for DYT6 dystonia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Mutation screening of the DYT6/THAP1 gene in Italy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Regional metabolism in primary torsion dystonia: effects of penetrance and genotype

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358360

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

26 November 2018

1 reference

12 December 2020

Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China

1 reference

12 December 2020

DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS

1 reference

12 December 2020

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

1 reference

12 December 2020

Age at onset as a factor in determining the phenotype of primary torsion dystonia

1 reference

12 December 2020

Novel THAP1 gene mutations in patients with primary dystonia from southwest China

1 reference

12 December 2020

No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia

1 reference

12 December 2020

10.1016/J.PARKRELDIS.2012.02.001

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22377579

1 reference