Back to search

Article

Radiogenomics of <i>C9orf72</i> expansion carriers reveals global transposable element de-repression and enables prediction of thalamic atrophy and clinical impairment

2022-07-31

Abstract excerpt

Hexanucleotide repeat expansion (HRE) within C9orf72 is the most common genetic cause of frontotemporal dementia (FTD). Thalamic atrophy occurs in both sporadic and familial FTD but is thought to distinctly affect HRE carriers. Separately, emerging evidence suggests widespread de-repression of transposable elements (TEs) in the brain in several neurodegenerative diseases, including C9orf72 HRE-mediated FTD (C9-F...

Topics

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

Identifiers and source

Literature Corpus work
09bc56f4-2ba9-568f-b917-527d3537d54c
DOI
10.1101/2022.07.28.501897
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Radiogenomics of <i>C9orf72</i> expansion carriers reveals global transposable element de-repression and enables prediction of thalamic atrophy and clinical impairmentDOI 10.1101/2022.07.28.501897
Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical ImpairmentSemantic proximity
Divergent impacts of <i>C9orf72</i> repeat expansion on neurons and glia in ALS and FTDSemantic proximity
Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brainSemantic proximity
Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation.Semantic proximity
<i>C9orf72</i> gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell typesSemantic proximity
Multimodal spatial transcriptomics determines repeat expansion, huntingtin aggregation, and selective cortical neuron loss in Huntington’s DiseaseSemantic proximity
Transposable element small and long RNAs in aging brains and implications in Huntington’s and Parkinson’s diseaseSemantic proximity
Widespread transposable element dysregulation in human aging brains with Alzheimer's diseaseSemantic proximity
Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer’s disease-specific <i>cis</i> regulatory elementsSemantic proximity
Human herpesvirus‐associated transposable element activation in human aging brains with Alzheimer's diseaseSemantic proximity
Cellular and genetic drivers of RNA editing variation in the human brainSemantic proximity
Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysisSemantic proximity
Select a neighboring publication to make it the new centre.