Trinucleotide repeat length instability and age of onset in Huntington's disease. - Wikidata - wikimedia - TriplyDB

Trinucleotide repeat length instability and age of onset in Huntington's disease.

Trinucleotide repeat length instability and age of onset in Huntington's disease.

http://www.wikidata.org/entity/Q34357407

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Factors affecting levels of genetic diversity in natural populations Huntington's disease genetics Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase The high spontaneous mutation rate: is it a health risk?DNA slip-outs cause RNA polymerase II arrest in vitro: potential implications for genetic instability Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS Molecular pathology of dentatorubral-pallidoluysian atrophy Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1 Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease Integrative annotation of 21,037 human genes validated by full-length cDNA clones Epigenetics and Triplet-Repeat Neurological Diseases Iron dysregulation in Huntington's disease Transgenic animal models for study of the pathogenesis of Huntington's disease and therapy Mutant huntingtin gene-dose impacts on aggregate deposition, DARPP32 expression and neuroinflammation in HdhQ150 mice Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease Novel polyglutamine model uncouples proteotoxicity from aging Continuous and periodic expansion of CAG repeats in Huntington's disease R6/1 mice The struggle by Caenorhabditis elegans to maintain proteostasis during aging and disease Huntingtin-associated protein 1 interacts with hepatocyte growth factor-regulated tyrosine kinase substrate and functions in endosomal trafficking CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p Molecular basis of genetic instability of triplet repeats Role of oxidative DNA damage in mitochondrial dysfunction and Huntington's disease pathogenesis A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study.Onset and progression of behavioral and molecular phenotypes in a novel congenic R6/2 line exhibiting intergenerational CAG repeat stability.Molecular Imaging Markers to Track Huntington’s Disease Pathology The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans Disruption of response inhibition circuits in prodromal Huntington disease.Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset.Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.Genetic background modulates behavioral impairments in R6/2 mice and suggests a role for dominant genetic modifiers in Huntington’s disease pathogenesis.Family and molecular data for a fine analysis of age at onset in Huntington disease.Huntington disease expansion mutations in humans can occur before meiosis is completed.

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P2860

Trinucleotide repeat length instability and age of onset in Huntington's disease.

http://www.wikidata.org/entity/Q34357407

description

1993 nî lūn-bûn

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1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1993 թվականի օգոստոսին հրատարակված գիտական հոդված

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1993年の論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年論文

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1993年论文

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name

Trinucleotide repeat length instability and age of onset in Huntington's disease.

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Trinucleotide repeat length instability and age of onset in Huntington's disease.

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Trinucleotide repeat length instability and age of onset in Huntington's disease.

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type

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Trinucleotide repeat length instability and age of onset in Huntington's disease.

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Trinucleotide repeat length instability and age of onset in Huntington's disease.

@en

Trinucleotide repeat length instability and age of onset in Huntington's disease.

@nl

prefLabel

Trinucleotide repeat length instability and age of onset in Huntington's disease.

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Trinucleotide repeat length instability and age of onset in Huntington's disease.

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Trinucleotide repeat length instability and age of onset in Huntington's disease.

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Nature Genetics

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Trinucleotide repeat length instability and age of onset in Huntington's disease.

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P2093

Abbott M

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Ambrose C

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Duyao M

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Folstein S

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Franz M

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Frontali M

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Myers R

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Persichetti F

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Ross C

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P2860

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

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.

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Homozygotes for Huntington's disease.

Huntington's disease. Pathogenesis and management.

Recombination events suggest potential sites for the Huntington's disease gene.

Predictive testing for Huntington's disease with use of a linked DNA marker.

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387-392

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scholarly article

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10.1038/NG0893-387

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4

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4

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Andrea Novelletto

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1993-08-01T00:00:00Z

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1048577444

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8401587

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Huntington disease