The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. - Wikidata - awgldk - TriplyDB

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

http://www.wikidata.org/entity/Q40415783

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Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.Opening up the DNA methylome of dementia Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders.Intermediate C9orf72 alleles in neurological disorders: does size really matter?Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.RNA Misprocessing in C9orf72-Linked Neurodegeneration.The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration.Calpain-dependent disruption of nucleo-cytoplasmic transport in ALS motor neurons.The Enigmatic Role of C9ORF72 in Autophagy Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.Detection of long repeat expansions from PCR-free whole-genome sequence data.Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS.Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations.Epigenetic Mechanisms of Gene Regulation in Amyotrophic Lateral Sclerosis.Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.Design and Synthesis of Cyclic Mismatch-Binding Ligands (CMBLs) with Variable Linkers by Ring-Closing Metathesis and their Photophysical and DNA Repeat Binding Properties.A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers Intrafamilial Phenotypic Variability in the Gene Expansion: 2 Case Studies The multistep hypothesis of ALS revisited: The role of genetic mutations

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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

http://www.wikidata.org/entity/Q40415783

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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2015年學術文章

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2015年學術文章

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The C9orf72 repeat size correl ...... ownregulation of the promoter.

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The C9orf72 repeat size correl ...... ownregulation of the promoter.

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The C9orf72 repeat size correl ...... ownregulation of the promoter.

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Molecular Psychiatry

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The C9orf72 repeat size correl ...... ownregulation of the promoter.

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P2860

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

Classification of primary progressive aphasia and its variants

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

Distinct DNA methylation changes highly correlated with chronological age in the human brain

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

A harmonized classification system for FTLD-TDP pathology

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

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