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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

http://www.wikidata.org/entity/Q57628958

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Glutathione S-Transferase Omega 1 variation does not influence age at onset of Huntington's disease Huntington's disease genetics Genetics and neuropathology of Huntington's disease Variation within the Huntington's disease gene influences normal brain structure CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.A series of N-terminal epitope tagged Hdh knock-in alleles expressing normal and mutant huntingtin: their application to understanding the effect of increasing the length of normal Huntingtin's polyglutamine stretch on CAG140 mouse model pathogenesi 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.Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.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.Neuroimaging in Huntington's disease.Genetic analysis of the GRIK2 modifier effect in Huntington's disease.DNA instability in replicating Huntington's disease lymphoblasts Genetic analysis of age at onset variation in spinocerebellar ataxia type 2.Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.Drosophila Models of Huntington's Disease exhibit sleep abnormalities What is the impact of education on Huntington's disease?The role of apolipoprotein E as a risk factor for an earlier age at onset for Machado-Joseph disease is doubtful.Huntington's disease accelerates epigenetic aging of human brain and disrupts DNA methylation levels.CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches.The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.miR-10b-5p expression in Huntington's disease brain relates to age of onset and the extent of striatal involvement Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene.Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease.A critical window of CAG repeat-length correlates with phenotype severity in the R6/2 mouse model of Huntington's disease.The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease Pizotifen Activates ERK and Provides Neuroprotection in vitro and in vivo in Models of Huntington's Disease Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype Verbal episodic memory declines prior to diagnosis in Huntington's disease.Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds.Huntington's disease: progress and potential in the field.The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.Mechanism of cis-inhibition of polyQ fibrillation by polyP: PPII oligomers and the hydrophobic effect.β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease.Cytotoxicity of mutant huntingtin fragment in yeast can be modulated by the expression level of wild type huntingtin fragment.

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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

http://www.wikidata.org/entity/Q57628958

description

im Juni 2003 veröffentlichter wissenschaftlicher Artikel

@de

scientific article published on 01 June 2003

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована у квітні 2003

@uk

name

Interaction of normal and expa ...... at onset of Huntington disease

@en

Interaction of normal and expa ...... at onset of Huntington disease

@nl

type

label

Interaction of normal and expa ...... at onset of Huntington disease

@en

Interaction of normal and expa ...... at onset of Huntington disease

@nl

prefLabel

Interaction of normal and expa ...... at onset of Huntington disease

@en

Interaction of normal and expa ...... at onset of Huntington disease

@nl

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American Journal of Medical Genetics

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Interaction of normal and expa ...... at onset of Huntington disease

@en

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Abramson R

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Almqvist EW

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Brinkman R

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Djoussé L

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Dode C

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Durr A

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Frontali M

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Gómez-Tortosa E

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Harrison M

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Jones R

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P2860

Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin

Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells

A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

Increased rate of suicide among patients with Huntington's disease.

Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo

A polymorphic DNA marker genetically linked to Huntington's disease.

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

Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.

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279-282

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scholarly article

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10.1002/AJMG.A.20190

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3

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119A

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James F. Gusella

L. Adrienne Cupples

Richard H Myers

Michael R. Hayden

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2003-06-01T00:00:00Z

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12784292

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P921

Huntington disease