Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The missing puzzle piece: splicing mutations.

International journal of clinical and experimental pathology - 1 Jan 2013

Lewandowska Marzena A

Abstract excerpt

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....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Exons
Share to Gene Expression Regulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Introns

Share to Mutation

Share to RNA Splice Sites

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 24294354
PMCID: PMC3843248

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The missing puzzle piece: splicing mutations.PMID 24294354Read ↗

Splicing mutations in human genetic disorders: examples, detection, and confirmation.Semantic proximity Read ↗

Bioinformatics and mutations leading to exon skipping.Semantic proximity Read ↗

Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?Semantic proximity Read ↗

RNA-Binding Proteins: Splicing Factors and Disease.Semantic proximity Read ↗

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options.Semantic proximity Read ↗

Splicing in action: assessing disease causing sequence changes.Semantic proximity Read ↗

Rules and tools to predict the splicing effects of exonic and intronic mutations.Semantic proximity Read ↗

Splicing in disease: disruption of the splicing code and the decoding machinery.Semantic proximity Read ↗

Aberrant RNA splicing as the molecular basis of some pathogenic variants.Semantic proximity Read ↗

RNA mis-splicing in disease.Semantic proximity Read ↗

In silico prediction of splice-affecting nucleotide variants.Semantic proximity Read ↗

[Mutation mechanisms and their consequences].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.