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

Dysregulation of Spliceosomes Complex Induces Retinitis Pigmentosa-Like Characteristics in sf3b4-Depleted Zebrafish.

The American journal of pathology - 1 Sept 2023

Ulhaq Zulvikar Syambani, Okamoto Keigo, Ogino Yukiko, Tse William Ka Fai

Abstract excerpt

The SF3B4 gene encodes a highly conserved protein that plays a critical role in mRNA splicing. Mutations in this gene are known to cause Nager syndrome, a rare craniofacial disorder. Although SF3B4 expression is detected in the optic vesicle before it is detected in the limb and somite, the role of SF3B4 in the eye is not well understood. This study investigated the function of sf3b4 in the retina by performing...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Retinitis Pigmentosa

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RNA Splicing Factors

Share to Spliceosomes

Share to Tretinoin

Share to Zebrafish

Source

Identifiers

PMID: 37263342
DOI: 10.1016/j.ajpath.2023.05.008

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

Dysregulation of Spliceosomes Complex Induces Retinitis Pigmentosa-Like Characteristics in sf3b4-Depleted Zebrafish.PMID 37263342Read ↗

Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse.Semantic proximity Read ↗

Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish.Semantic proximity Read ↗

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and BeyondSemantic proximity Read ↗

The role of splicing factors in retinitis pigmentosa: links to cilia.Semantic proximity Read ↗

Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish.Semantic proximity Read ↗

The zebrafish sf3b1b460 mutant reveals differential requirements for the sf3b1 pre-mRNA processing gene during neural crest development.Semantic proximity Read ↗

Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.Semantic proximity Read ↗

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.Semantic proximity Read ↗

Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome.Semantic proximity Read ↗

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

Spliceosomopathies: Diseases and mechanisms.Semantic proximity Read ↗

Etiology of Craniofacial and Cardiac Malformations in a Mouse Model of SF3B4-Related SyndromesSemantic proximity Read ↗

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