Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism - Wikidata - awgldk - TriplyDB

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

http://www.wikidata.org/entity/Q35677795

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An Alu element-associated hypermethylation variant of the POMC gene is associated with childhood obesity The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias Roles for retrotransposon insertions in human disease Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders Meige syndrome: What's in a name?X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease SeqHBase: a big data toolset for family based sequencing data analysis Role of Gα(olf) in familial and sporadic adult-onset primary dystonia The anatomical basis of dystonia: current view using neuroimaging.Brain expressed microRNAs implicated in schizophrenia etiology.X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.Understanding XDP through imaging, pathology, and genetics.SVA retrotransposons: Evolution and genetic instability Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystonia Retrotransposition of marked SVA elements by human L1s in cultured cells.Basal Ganglia disorders associated with imbalances in the striatal striosome and matrix compartments.Mutations in CIZ1 cause adult onset primary cervical dystonia.New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.Alu elements and human common diseases like obesity.Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins Non-Parkinson movement disorders: Five new things Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.The genetics of dystonias.Recent advances in the genetics of dystonia.Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.Inverted low-copy repeats and genome instability--a genome-wide analysis Exon-trapping mediated by the human retrotransposon SVA.5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome The promise of deep brain stimulation in X-linked dystonia parkinsonism.Milestones in dystonia.Review: genetics and neuropathology of primary pure dystonia.The genetics of dystonia: new twists in an old tale.Emerging common molecular pathways for primary dystonia.Crafting the brain - role of histone acetyltransferases in neural development and disease.

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P2860

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

http://www.wikidata.org/entity/Q35677795

description

2007 nî lūn-bûn

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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2007年论文

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2007年论文

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name

Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism

@ast

Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism

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type

label

Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism

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Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism

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prefLabel

Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism

@ast

Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism

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American Journal of Human Genetics

P1476

Reduced neuron-specific expres ...... X-linked dystonia-parkinsonism

@en

P2093

Elma Maranon

http://www.w3.org/2001/XMLSchema#string

Gen Tamiya

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Hiroyasu Akatsu

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Kazumasa Ogasawara

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Lillian V Lee

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Maiko Tomizawa

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Maria Daisy Tabuena

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Marita Dantes

http://www.w3.org/2001/XMLSchema#string

Masataka Nishimura

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Ryuji Kaji

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P2860

Cloning and expression of human TAFII250: a TBP-associated factor implicated in cell-cycle regulation

Molecular mechanisms of autosomal recessive hypercholesterolemia

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

TAF(II)250: a transcription toolbox

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides

Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene dupli

Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP)

Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease.

P304

393-406

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scholarly article

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10.1086/512129

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P433

3

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80

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Katsuhito Yasuno

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2007-01-23T00:00:00Z

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6530619

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17273961

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P921

Parkinson's disease

P932

1821114

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