ArticleScientific reports2018
Reversible mislocalization of a disease-associated MRE11 splice variant product.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Differential expression of a disease-associated MRE11 variant reveals distinct phenotypic outcomes.Human molecular genetics · 2025Article
- Differential expression of a disease-associatedbioRxiv : the preprint server for biology · 2025Article
- Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.Human molecular genetics · 2024Article
- O-GlcNAc transferase couples MRE11 to transcriptionally active chromatin to suppress DNA damage.Journal of biomedical science · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Ataxia-telangiectasia (AT) and related disorders feature cancer predisposition, neurodegeneration, and immunodeficiency resulting from failure to respond to DNA damage. Hypomorphic mutations in MRE11 cause an AT-like disorder (ATLD) with variable clinical presentation. We have sought to understand how diverse MRE11 mutations may provide unique therapeutic opportunities, and potentially correlate with clinical variability. Here we have undertaken studies of an MRE11 splice site mutation that was found in two ATLD siblings that died of pulmonary adenocarcinoma at the young ages of 9 and 16. The mutation, termed MRE11 alternative splice mutation (MRE11
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Registered trials
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