ReviewThe Journal of pathology2010
The pathobiology of splicing.
Review in The Journal of pathology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 212 papers, 1 of them a synthesis 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
212 citing papers in PubMed, 1 synthesis or guideline pooled it, 416 citations in OpenAlex.
- Pooled it
- Highly restricted specificity of aberrant exons in a saturated background of differentially expressed exons.Genes & diseases · 2027Article
- Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome.The Journal of pathology · 2026Article
- Geroprotective applications of oleuropein and hydroxytyrosol through the hallmarks of ageing.GeroScience · 2026Review
- saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval.Genome biology · 2026Article
- Article
- Functional Characterization ofInternational journal of molecular sciences · 2025Article
- Uncovering functional INDELs responsible for splice sites in sheep with different immune profiles naturally exposed to gastrointestinal nematode infection.Scientific reports · 2025Article
- RNA dysfunction in age-related macular degeneration: the role of U1 snRNP complex and neurodegenerative diseases.International journal of retina and vitreous · 2025Review
- Parvovirus RNA Processing: Compact Genomic Organization and Unique Alternative mRNA Processing Mechanisms.Viruses · 2025Review
- Genotype-Based Molecular Mechanisms in Alport Syndrome.Journal of the American Society of Nephrology : JASN · 2025Review
- Data-driven insights to inform splice-altering variant assessment.American journal of human genetics · 2025Article
- Detection of mRNA Transcript Variants.Genes · 2025Review
- mRNA Transcript Variants Expressed in Mammalian Cells.International journal of molecular sciences · 2025Review
- A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.Frontiers in genetics · 2025Article
- ClC-Kb pore mutation disrupts glycosylation and triggers distal tubular remodeling.JCI insight · 2024Article
- Understanding isoform expression by pairing long-read sequencing with single-cell and spatial transcriptomics.Genome research · 2024Review
- Segregation of theGenes · 2024Article
- SpliceVarDB: A comprehensive database of experimentally validated human splicing variants.American journal of human genetics · 2024Article
- Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.BMC medical genomics · 2024Article
152 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
Ninety-four percent of human genes are discontinuous, such that segments expressed as mRNA are contained within exons and separated by intervening segments, called introns. Following transcription, genes are expressed as precursor mRNAs (pre-mRNAs), which are spliced co-transcriptionally, and the flanking exons are joined together to form a continuous mRNA. One advantage of this architecture is that it allows alternative splicing by differential use of exons to generate multiple mRNAs from individual genes. Regulatory elements located within introns and exons guide the splicing complex, the spliceosome, and auxiliary RNA binding proteins to the correct sites for intron removal and exon joining. Misregulation of splicing and alternative splicing can result from mutations in cis-regulatory elements within the affected gene or from mutations that affect the activities of trans-acting factors that are components of the splicing machinery. Mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease. An understanding of the role of splicing in disease expands potential opportunities for therapeutic intervention by either directly addressing the cause or by providing novel approaches to circumvent disease processes.
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.