ReviewGenome biology2014
Exon identity crisis: disease-causing mutations that disrupt the splicing code.
Review in Genome biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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
72 citing papers in PubMed, 128 citations in OpenAlex.
- Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.Clinical and experimental nephrology · 2026Article
- STAT3-mediated transactivation of NOVA2 promotes lung adenocarcinoma metastasis by splicing SMAD4.Oncogene · 2026Article
- Human messenger RNA harbors widespread noncoding splice isoforms.Briefings in bioinformatics · 2026Article
- Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulation.bioRxiv : the preprint server for biology · 2025Article
- A basic framework to explain splice-site choice in eukaryotes.Nature communications · 2025Article
- Deep indel mutagenesis reveals the regulatory and modulatory architecture of alternative exon splicing.Nature communications · 2025Article
- OpenASO: RNA Rescue-designing splice-modulating antisense oligonucleotides through community science.RNA (New York, N.Y.) · 2025Article
- Rescue of a panel of Hemophilia A-causing 5'ss splicing mutations by unique Exon-specific U1snRNA variants.Molecular medicine (Cambridge, Mass.) · 2025Article
- Single-cell long-read targeted sequencing reveals transcriptional variation in ovarian cancer.Nature communications · 2024Article
- ClusTrast: a short read de novo transcript isoform assembler guided by clustered contigs.BMC bioinformatics · 2024Article
- Review of Computational Methods and Database Sources for Predicting the Effects of Coding Frameshift Small Insertion and Deletion Variations.ACS omega · 2024Review
- An intronic RNA element modulates Factor VIII exon-16 splicing.Nucleic acids research · 2024Article
- Discovering cryptic splice mutations in cancers via a deep neural network framework.NAR cancer · 2023Article
- Article
- Identification of disease-related aberrantly spliced transcripts in myeloma and strategies to target these alterations by RNA-based therapeutics.Blood cancer journal · 2023Article
- Genetic analysis of human RNA binding motif protein 48 (RBM48) reveals an essential role in U12-type intron splicing.Genetics · 2022Article
- Genome-wide identification of exon extension/shrinkage events induced by splice-site-creating mutations.RNA biology · 2022Article
- A novel lncRNA derived from an ultraconserved region: lnc-RNA biology · 2021Article
- What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.Methods and protocols · 2021Review
- Intermixing theGenes · 2021Review
12 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 2 institutions in 2 countries.
Funding
Abstract
Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.
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.