DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene (Q37906497)

25 August 2017

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title

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene (English)

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25 August 2017

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Christophe Béroud

7

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Mireille Claustres

6

object named as

Mireille Claustres

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25 August 2017

Gwenaëlle Collod-Béroud

8

object named as

Gwenaëlle Collod-Béroud

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25 August 2017

Arnaud Blanchard

1

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25 August 2017

Vuthy Ea

2

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25 August 2017

Agathe Roubertie

3

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25 August 2017

Mélanie Martin

4

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25 August 2017

Coline Coquart

5

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25 August 2017

publication date

15 September 2011

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25 August 2017

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25 August 2017

volume

32

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25 August 2017

issue

11

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25 August 2017

page(s)

1213-1224

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Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

25 August 2017

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21 January 2018

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

21 January 2018

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Monogenetic dystonia: revisiting the dopaminergic hypothesis

21 January 2018

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The pathophysiological basis of dystonias.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Software and database for the analysis of mutations in the human FBN1 gene

21 January 2018

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Do primary adult-onset focal dystonias share aetiological factors?

21 January 2018

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

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Cardiovascular manifestations in men and women carrying a FBN1 mutation

21 January 2018

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

21 January 2018

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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

21 January 2018

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Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

21 January 2018

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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

21 January 2018

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Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

21 January 2018

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Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

21 January 2018

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UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities.

21 January 2018

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Par-4 is a mediator of neuronal degeneration associated with the pathogenesis of Alzheimer disease

21 January 2018

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Amino acid substitution matrices from protein blocks

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

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

21 January 2018

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Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

21 January 2018

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Analysis of the DYSF mutational spectrum in a large cohort of patients

21 January 2018

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Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

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21 January 2018

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

21 January 2018

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SIFT: Predicting amino acid changes that affect protein function

21 January 2018

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Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

Par-4 links dopamine signaling and depression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

21 January 2018

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

21 January 2018

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Pathophysiology of dystonia.

21 January 2018

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The UMD-LDLR database: additions to the software and 490 new entries to the database.

21 January 2018

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Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

21 January 2018

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Novel THAP1 sequence variants in primary dystonia

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21564

Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

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7 January 2021

Prostate apoptosis response-4 production in synaptic compartments following apoptotic and excitotoxic insults: evidence for a pivotal role in mitochondrial dysfunction and neuronal degeneration

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https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

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https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

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https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

The UMD TP53 database and website: update and revisions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

The prostate apoptosis response-4 protein participates in motor neuron degeneration in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

Prevalence of THAP1 sequence variants in German patients with primary dystonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21564

7 January 2021

Identifiers

DOI

10.1002/HUMU.21564

1 reference

25 August 2017

1 reference