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

Development and Use of Cellular Systems to Assess and Correct Splicing Defects.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2022

Suárez-Herrera Nuria, Tomkiewicz Tomasz Z, Garanto Alejandro, Collin Rob W J

Abstract excerpt

A significant proportion of mutations underlying genetic disorders affect pre-mRNA splicing, generally causing partial or total skipping of exons, and/or inclusion of pseudoexons. These changes often lead to the formation of aberrant transcripts that can induce nonsense-mediated decay, and a subsequent lack of functional protein. For some genetic disorders, including inherited retinal diseases (IRDs), reproducing...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Exons
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oligonucleotides, Antisense

Share to Reproducibility of Results

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 35213015
DOI: 10.1007/978-1-0716-2010-6_9
PMCID: PMC9703848

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Development and Use of Cellular Systems to Assess and Correct Splicing Defects.PMID 35213015Read ↗

Allele-specific antisense oligonucleotides for the treatment of BEST1-related dominantly inherited retinal diseases: An in vitro model.Semantic proximity Read ↗

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Semantic proximity Read ↗

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.Semantic proximity Read ↗

Splicing mutations in inherited retinal diseases.Semantic proximity Read ↗

Dynamic changes in mRNA isoform usage during human retinal organoid developmentSemantic proximity Read ↗

Genetic therapies for RNA mis-splicing diseases.Semantic proximity Read ↗

Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the ArtSemantic proximity Read ↗

Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.Semantic proximity Read ↗

PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.Semantic proximity Read ↗

Exon skipping via chimeric antisense U1 snRNAs to correct Retinitis Pigmentosa GTPase-Regulator (RPGR) splice defectSemantic proximity Read ↗

PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.Semantic proximity Read ↗

Exon Skipping Through Chimeric Antisense U1 snRNAs to Correct Retinitis Pigmentosa GTPase-Regulator (RPGR) Splice Defect.Semantic proximity Read ↗

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