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

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele.

Genes - 23 Nov 2024

Maggi Jordi, Feil Silke, Gloggnitzer Jiradet, Maggi Kevin, Hanson James V M, Koller Samuel, Gerth-Kahlert Christina, Berger Wolfgang

Abstract excerpt

Background/Objectives: Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in ABCA4 that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Methods: Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1. Results: WES...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Mutation, Missense

Share to Pedigree

Share to RNA Splicing

Share to Stargardt Disease

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 39766771
DOI: 10.3390/genes15121503

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele.PMID 39766771Read ↗

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.Semantic proximity Read ↗

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.Semantic proximity Read ↗

Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomicsSemantic proximity Read ↗

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.Semantic proximity Read ↗

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.Semantic proximity Read ↗

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.Semantic proximity Read ↗

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.Semantic proximity Read ↗

ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder PhenotypeSemantic proximity Read ↗

Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4.Semantic proximity Read ↗

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsSemantic proximity Read ↗

Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease.Semantic proximity Read ↗

Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to reduce <i>ABCA4</i> splice variants in Stargardt diseaseSemantic proximity Read ↗

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