ReviewInternational journal of clinical and experimental pathology2013
The missing puzzle piece: splicing mutations.
Review in International journal of clinical and experimental pathology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 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
48 citing papers in PubMed, 67 citations in OpenAlex.
- Pre-mRNA Splicing Modulation by Antisense Oligonucleotides.Methods in molecular biology (Clifton, N.J.) · 2025Article
- MSI expresso: a software for determining MSI status and detecting MSI-related transcription events from RNA sequencing data.Frontiers in genetics · 2025Article
- Association of Single-Nucleotide Variants in ACE2 with the Persistence of Positive qPCR Test for SARS-CoV-2 in Healthcare Professionals During the First Wave of the COVID-19 Pandemic.Microorganisms · 2024Article
- A Splice Site Variant inAnimals : an open access journal from MDPI · 2024Article
- Mechanisms of Action of the US Food and Drug Administration-Approved Antisense Oligonucleotide Drugs.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.Translational neurodegeneration · 2024Review
- Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.BMC genomics · 2024Article
- Tumor Antigens beyond the Human Exome.International journal of molecular sciences · 2024Review
- Molecular Basis of Unequal Alternative Splicing of Human SCD5 and Its Alteration by Natural Genetic Variations.International journal of molecular sciences · 2023Article
- Case report: identification of one frameshift variant and twoFrontiers in genetics · 2023Article
- Mutation in the Endo-β-1,4-glucanase (KORRIGAN) Is Responsible for Thick Leaf Phenotype in Sorghum.Plants (Basel, Switzerland) · 2022Article
- SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.Human mutation · 2022Article
- Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease.Animals : an open access journal from MDPI · 2022Article
- Exon Skipping Through Chimeric AntisenseNucleic acid therapeutics · 2022Article
- RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance (Annals of laboratory medicine · 2022Article
- A NovelMolecular syndromology · 2022Article
- Antisense RNA Therapeutics: A Brief Overview.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Article
- Disrupted minor intron splicing is prevalent in Mendelian disorders.Molecular genetics & genomic medicine · 2020Article
- Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.Clinical and experimental nephrology · 2020Article
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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Proper gene splicing is highly dependent on the correct recognition of exons. Among the elements allowing this process are the "cis" (conserved sequences) and "trans" (snRNP, splicing factors) elements. Splicing mutations are related with a number of genetic disorders and usually induce exon skipping, form new exon/intron boundaries or activate new cryptic exons as a result of alterations at donor/acceptor sites. They constitute more than 9% of the currently published mutations, but this value is highly underestimated as many of the potential mutations are located in the "cis" elements and should be confirmed experimentally. The most commonly detected splicing mutations are located at donor (5') and acceptor (3') sites. Mutations at the branch point are rare (only over a dozen are known to date), and are mostly searched and detected when no alteration has been detected in the sequenced exons and UTRs. Polypyrimidine tract mutations are equally rare. High throughput technologies, as well as traditional Sanger sequencing, allow detection of many changes in intronic sequences and intron/exon boundaries. However, the assessment whether a mutation affects exon recognition and results in a genetic disorder has to be conducted using molecular biology methods: in vitro transcription of the sequence of interest cloned into a plasmid, with and without alterations, or mutation analysis via a hybrid minigene system. Even though microarrays and new generation sequencing methods pose difficulties in detecting novel branch point mutations, these tools seem appropriate to expand the mutation detection panel especially for diagnostic purposes.
Indexed as
Identifiers
24294354PMC3843248W181035399What 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.