ReviewTrends in molecular medicine2012
Pre-mRNA splicing in disease and therapeutics.
Review in Trends in molecular medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 261 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
261 citing papers in PubMed, 2 syntheses or guidelines pooled it, 449 citations in OpenAlex.
- Prosaposin variants in sporadic, familial, and early-onset Parkinson's disease: a Taiwanese case-control study and meta-analysis.Scientific reports · 2024Pooled it
- A systematic review of non-coding RNA genes with differential expression profiles associated with autism spectrum disorders.PloS one · 2023Pooled it
- Therapeutic Strategies Targeting the Molecular Pathogenesis of Myotonic Dystrophy Type 1: Current Status and Future Directions.Molecular diagnosis & therapy · 2026Review
- Modulation of splicing factors SF3B1 and SRSF1 by polypurine reverse Hoogsteen hairpins affects the splicing pattern of estrogen receptor α in breast cancer cells.Cancer cell international · 2026Article
- Article
- Comprehensive review and assessment of multi-species splicing variant prediction: task-specific deep learning models and genomic foundation models.Briefings in bioinformatics · 2026Review
- SRSF10 promotes cisplatin resistance in bladder cancer via BIN1 Exon 12 retention and ANXA1 activation.Oncogene · 2026Article
- Targeting RNA binding proteins with small-molecule inhibitors: Advances, challenges, and therapeutic opportunities.Acta pharmaceutica Sinica. B · 2026Review
- Dual Targeting of Mutant p53 and SNRPD2 via Engineered Exosomes Modulates Alternative Splicing to Suppress Ovarian Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Integrative Analysis of Alternative Splicing Regulation Reveals Genetic and RBP-Mediated Mechanisms in Endometriosis Pathogenesis.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Functional and structural characterization ofFrontiers in endocrinology · 2026Article
- Structure-Based Modeling of Environment-Dependent Protonation States Across LNP Formulations with Atomistic CpHMD.Molecular pharmaceutics · 2025Article
- The muscle specific MEF2Dα2 isoform promotes muscle ketolysis and running capacity in mice.EMBO reports · 2025Article
- Application of Antisense Oligonucleotides as an Alternative Approach for Gene Expression Control and Functional Studies.International journal of molecular sciences · 2025Review
- Joint analysis of sQTL and Hi-C reveals spatial proximity between sQTLs and target genes in cancer tissues.Scientific reports · 2025Article
- Alternative Splicing Regulation in Metabolic Disorders.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- hnRNP A1 induces aberrantLife science alliance · 2025Article
- Review
- OpenASO: RNA Rescue-designing splice-modulating antisense oligonucleotides through community science.RNA (New York, N.Y.) · 2025Article
- mRNA Transcript Variants Expressed in Mammalian Cells.International journal of molecular sciences · 2025Review
201 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
2 authors at 1 institution in 1 country.
Funding
Abstract
In metazoans, alternative splicing of genes is essential for regulating gene expression and contributing to functional complexity. Computational predictions, comparative genomics, and transcriptome profiling of normal and diseased tissues indicate that an unexpectedly high fraction of diseases are caused by mutations that alter splicing. Mutations in cis elements cause missplicing of genes that alter gene function and contribute to disease pathology. Mutations of core spliceosomal factors are associated with hematolymphoid neoplasias, retinitis pigmentosa, and microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Mutations in the trans regulatory factors that control alternative splicing are associated with autism spectrum disorder, amyotrophic lateral sclerosis (ALS), and various cancers. In addition to discussing the disorders caused by these mutations, this review summarizes therapeutic approaches that have emerged to correct splicing of individual genes or target the splicing machinery.
Indexed as
Identifiers
What OpenQuestion holds
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.