ReviewTrends in genetics : TIG2017
Splicing Factor Mutations in Myelodysplasias: Insights from Spliceosome Structures.
Review in Trends in genetics : TIG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 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.
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Who cites it
40 citing papers in PubMed, 68 citations in OpenAlex.
- Biological consequences of Z-nucleic acid sensing by ZBP1 and ADAR1.RNA biology · 2026Review
- Role of alternative splicing in cancer progression.Irish journal of medical science · 2026Review
- Revealing the role of U2AF1 in splicing regulation and chimeric RNA dynamics.Scientific reports · 2025Article
- SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.PloS one · 2025Article
- Recurrent Neurodevelopmentally Associated Variants of the Pre-mRNA Splicing Factor U2AF2 Alter RNA Binding Affinities and Interactions.Biochemistry · 2024Article
- The role of alternative pre-mRNA splicing in cancer progression.Cancer cell international · 2023Review
- The Biological and Clinical Consequences of RNA Splicing Factor U2AF1 Mutation in Myeloid Malignancies.Cancers · 2022Review
- SF3B1 inhibition disrupts malignancy and prolongs survival in glioblastoma patients through BCL2L1 splicing and mTOR/ß-catenin pathways imbalances.Journal of experimental & clinical cancer research : CR · 2022Article
- A synthetic small molecule stalls pre-mRNA splicing by promoting an early-stage U2AF2-RNA complex.Cell chemical biology · 2021Article
- Review
- MDS-associated SF3B1 mutations enhance proinflammatory gene expression in patient blast cells.Journal of leukocyte biology · 2021Article
- Titration of SF3B1 Activity Reveals Distinct Effects on the Transcriptome and Cell Physiology.International journal of molecular sciences · 2020Article
- Representative cancer-associated U2AF2 mutations alter RNA interactions and splicing.The Journal of biological chemistry · 2020Article
- Elucidation of the aberrant 3' splice site selection by cancer-associated mutations on the U2AF1.Nature communications · 2020Article
- Single-cell transcriptomics in cancer: computational challenges and opportunities.Experimental & molecular medicine · 2020Review
- A splice site-sensing conformational switch in U2AF2 is modulated by U2AF1 and its recurrent myelodysplasia-associated mutation.Nucleic acids research · 2020Article
- Mutation severity spectrum of rare alleles in the human genome is predictive of disease type.PLoS computational biology · 2020Article
- Regulating Divergent Transcriptomes through mRNA Splicing and Its Modulation Using Various Small Compounds.International journal of molecular sciences · 2020Review
- Impact of cancer-associated mutations in Hsh155/SF3b1 HEAT repeats 9-12 on pre-mRNA splicing in Saccharomyces cerevisiae.PloS one · 2020Article
- mTOR-regulated U2af1 tandem exon splicing specifies transcriptome features for translational control.Nucleic acids research · 2019Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Somatic mutations of pre-mRNA splicing factors recur among patients with myelodysplastic syndrome (MDS) and related malignancies. Although these MDS-relevant mutations alter the splicing of a subset of transcripts, the mechanisms by which these single amino acid substitutions change gene expression remain controversial. New structures of spliceosome intermediates and associated protein complexes shed light on the molecular interactions mediated by 'hotspots' of the SF3B1 and U2AF1 pre-mRNA splicing factors. The frequently mutated SF3B1 residues contact the pre-mRNA splice site. Based on structural homology with other spliceosome subunits, and recent findings of altered RNA binding by mutant U2AF1 proteins, we suggest that affected U2AF1 residues also contact pre-mRNA. Altered pre-mRNA recognition emerges as a molecular theme among MDS-relevant mutations of pre-mRNA splicing factors.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.