Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p - Wikidata - wikimedia - TriplyDB

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

http://www.wikidata.org/entity/Q28250966

about

Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7 Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function A human HAP1 homologue. Cloning, expression, and interaction with huntingtin Functional architecture of atrophins Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10 Simple tandem DNA repeats and human genetic disease Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2 Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 The localization and interactions of huntingtin Molecular pathology of dentatorubral-pallidoluysian atrophy Mouse models of polyglutamine diseases: review and data table. Part I Isolation and characterization of novel CAG repeat containing genes expressed in human brain Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.CAG-encoded polyglutamine length polymorphism in the human genome HAP1 can sequester a subset of TBP in cytoplasmic inclusions via specific interaction with the conserved TBP(CORE).Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia Meiotic instability associated with the CAGR1 trinucleotide repeat at 13q13.Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease Familial psychiatric presentation of Huntington's disease The relationship between (CAG)n repeat number and age of onset in a family with dentatorubral-pallidoluysian atrophy (DRPLA): diagnostic implications of confirmatory and predictive testing Diagnosis of inherited metabolic disorders affecting the nervous system Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation Oligonucleotide-based strategies to combat polyglutamine diseases.Structure based molecular inhibition of Caspase-8 for treatment of multi-neurodegenerative diseases using known natural compounds.Histone deacetylase inhibitors reduce polyglutamine toxicity Hereditary dentatorubral-pallidoluysian atrophy.The human δ2 glutamate receptor gene is not mutated in patients with spinocerebellar ataxia.High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level.Interaction of expanded polyglutamine stretches with nuclear transcription factors leads to aberrant transcriptional regulation in polyglutamine diseases.Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome

P2860

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P2860

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

http://www.wikidata.org/entity/Q28250966

description

1994 nî lūn-bûn

@nan

1994 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի հունվարին հրատարակված գիտական հոդված

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1994年の論文

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1994年学术文章

@wuu

1994年学术文章

@zh-cn

1994年学术文章

@zh-hans

1994年学术文章

@zh-my

1994年学术文章

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1994年學術文章

@yue

name

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@ast

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@en

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@nl

type

label

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@ast

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@en

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@nl

prefLabel

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@ast

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@en

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@nl

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P2860

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P1433

Nature Genetics

P1476

Dentatorubral and pallidoluysi ...... rinucleotide on chromosome 12p

@en

P2093

E Ohsaki

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I Kondo

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P2860

Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Sequence identification of 2,375 human brain genes

A transcriptional analysis of the gene encoding mouse U7 small nuclear RNA

Human genes containing polymorphic trinucleotide repeats.

Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.

P2888

P304

14-8

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scholarly article

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10.1038/NG0194-14

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P433

1

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P478

6

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P577

1994-01-01T00:00:00Z

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8136826

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