ReviewTrends in genetics : TIG2012
New connections between splicing and human disease.
Review in Trends in genetics : TIG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
108 citing papers in PubMed.
- CRYSPER and CUREIPES: two new molecular tools enabling analysis of RNA splicing and C-to-U RNA editing-inducible protein expression at single cell resolution.Nucleic acids research · 2026Article
- First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an IrishGenes · 2026Article
- Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Orphanet journal of rare diseases · 2026Article
- A novel heterozygous splicing variant in theFrontiers in cell and developmental biology · 2026Article
- The drug-elicitable alternative splicing module for tunable vector expression in the heart.Nature cardiovascular research · 2025Article
- RNA-binding protein Miso/CG44249 is crucial for minor splicing during oogenesis inRNA (New York, N.Y.) · 2025Article
- DecodingbioRxiv : the preprint server for biology · 2025Article
- Splicing accuracy varies across human introns, tissues, age and disease.Nature communications · 2025Article
- RNA binding by Periphilin plays an essential role in initiating silencing by the HUSH complex.Nucleic acids research · 2025Article
- A Splice Site Variant inAnimals : an open access journal from MDPI · 2024Article
- Minor Spliceosomal 65K/RNPC3 Interacts with ANKRD11 and Mediates HDAC3-Regulated Histone Deacetylation and Transcription.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Alternative splicing and related RNA binding proteins in human health and disease.Signal transduction and targeted therapy · 2024Review
- Deletions of singular U1 snRNA gene significantly interfere with transcription and 3'-end mRNA formation.PLoS genetics · 2023Article
- A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases.Journal of human genetics · 2023Review
- Genome-wide mapping of protein-DNA damage interaction by PADD-seq.Nucleic acids research · 2023Article
- Non-ubiquitous expression of core spliceosomal protein SmB/B' in chick and mouse embryos.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.Nucleic acids research · 2023Article
- The MSH2 c.793-1G>A variant disrupts normal splicing and is associated with Lynch syndrome.Frontiers in oncology · 2023Article
- The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant.PloS one · 2023Article
- Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene.Frontiers in genetics · 2023Article
48 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
The removal by splicing of introns from the primary transcripts of most mammalian genes is an essential step in gene expression. Splicing is performed by large, complex ribonucleoprotein particles termed spliceosomes. Mammals contain two types that splice out mutually exclusive types of introns. However, the role of the minor spliceosome has been poorly studied. Recent reports have now shown that mutations in one minor spliceosomal snRNA, U4atac, are linked to a rare autosomal recessive developmental defect. In addition, very exciting recent results of exome deep-sequencing have found that recurrent, somatic, heterozygous mutations of other splicing factors occur at high frequencies in particular cancers and pre-cancerous conditions, suggesting that alterations in the core splicing machinery can contribute to tumorigenesis. Mis-splicing of crucial genes may underlie the pathologies of all of these diseases. Identifying these genes and understanding the mechanisms involved in their mis-splicing may lead to advancements in diagnosis and treatment.
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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.