Article

Identification and copy number variant analysis of enhancer regions of genes causing spinocerebellar ataxia

2023-09-01

Abstract excerpt

Currently, routine diagnostics for spinocerebellar ataxia (SCA) consist of analyses that look for polyQ repeat expansions and conventional variations affecting the proteins encoded by known SCA genes. Despite all the effort, ∼40% of the patients still remain without a genetic diagnosis after routine tests. Increasing evidence suggests that variations in the enhancer regions of genes involved in neurodegenerative d...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9b78de66-4ac6-5bc7-8977-bc22a8922cc2
DOI: 10.1101/2023.08.31.555719

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification and copy number variant analysis of enhancer regions of genes causing spinocerebellar ataxiaDOI 10.1101/2023.08.31.555719Read

Bridging between mouse and human enhancer-promoter long-range interactions in neural stem cells, to understand enhancer function in neurodevelopmental diseaseSemantic proximity Read

SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.Semantic proximity Read

Genetic Spectrum and Clinical Features in a Cohort of Chinese Patients with Autosomal Recessive Cerebellar AtaxiasSemantic proximity Read

Validation of Enhancer Regions in Primary Human Neural Progenitor Cells using Capture STARR-seqSemantic proximity Read

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxiasSemantic proximity Read

Functional regulatory variants implicate distinct transcriptional networks in dementiaSemantic proximity Read

Genomic and epigenomic insights into purkinje and granule neurons in Alzheimer’s disease and related dementia using single-nucleus multiome analysisSemantic proximity Read

Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.Semantic proximity Read

Functional regulatory variants implicate distinct transcriptional networks in dementia.Semantic proximity Read

Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37.Semantic proximity Read

CRISPR tiling deletion screens reveal functional enhancers of neuropsychiatric risk genes and allelic compensation effects (ACE) on transcriptionSemantic proximity Read

Enhancer variants associated with Alzheimer’s disease affect gene expression via chromatin loopingSemantic proximity Read