Back to search

Article

Mapping genetic variants for nonsense-mediated mRNA decay regulation across human tissues

2022-10-20

Abstract excerpt

<h4>Background</h4> Nonsense-mediated mRNA decay (NMD) was originally conceived as an mRNA surveillance mechanism to prevent the production of potentially deleterious truncated proteins. Recent research shows NMD is an important post-transcriptional gene regulation mechanism selectively targeting many non-aberrant mRNAs. However, how natural genetic variants affect NMD and modulate gene expressions remains elusiv...

Topics

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

Identifiers and source

Literature Corpus work
8a32ae77-0c7f-5581-bd1b-ade0e6840ac3
DOI
10.1101/2022.10.19.512888
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.
Mapping genetic variants for nonsense-mediated mRNA decay regulation across human tissuesDOI 10.1101/2022.10.19.512888
Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disordersSemantic proximity
Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individualsSemantic proximity
Clinical significance of mRNA nonstop decay in rare disease diagnosis and recommendations for its application in variant classificationSemantic proximity
Nonsense-mediated decay is highly stable across individuals and tissues.Semantic proximity
Distribution and effects of nonsense polymorphisms in human genes.Semantic proximity
Quantitative prediction of nonsense-mediated mRNA decay across human genes by genomic language model and large-scale mutational scanningSemantic proximity
Regional nonsense constraint offers biological and clinical insights into genetic disease.Semantic proximity
NMDtxDB: Data-driven identification and annotation of human NMD target transcriptsSemantic proximity
Regional nonsense constraint offers clinical and biological insights into rare genetic disordersSemantic proximity
Poison exon splicing in the human brain: a new paradigm for understanding and targeting neurological disordersSemantic proximity
A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint.Semantic proximity
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.Semantic proximity
Select a neighboring publication to make it the new centre.