Article

Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development

2024-02-02

Abstract excerpt

Nager syndrome is a rare craniofacial and limb disorder characterized by midface retrusion, micrognathia, absent thumbs, and radial hypoplasia. This disorder results from haploinsufficiency of SF3B4 (splicing factor 3b, subunit 4) a component of the pre-mRNA spliceosomal machinery. The spliceosome is a complex of RNA and proteins that function together to remove introns and join exons from transcribed pre-mRNA. Wh...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a1402cef-8368-5469-b9d3-b9635520bc52
DOI: 10.1101/2024.01.31.578190

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest developmentDOI 10.1101/2024.01.31.578190Read

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

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

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.Semantic proximity Read

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

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.Semantic proximity Read

Spliceosomopathies and neurocristopathies: Two sides of the same coin?Semantic proximity Read

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.Semantic proximity Read

Haploinsufficiency of SF3B2 causes craniofacial microsomia.Semantic proximity Read

CRISPR editing of sftb-1 /SF3B1 in C. elegans allows the identification of synthetic interactions with cancer-related mutations and the chemical inhibition of splicingSemantic proximity Read

Wolf-Hirschhorn Syndrome-associated genes are enriched in motile neural crest and affect craniofacial development in Xenopus laevisSemantic proximity Read

PTBP3 Associated With 9q32 Locus Is a Candidate Gene for Nager Syndrome.Semantic proximity Read

Role of U11/U12 minor spliceosome gene ZCRB1 in Ciliogenesis and WNT SignalingSemantic proximity Read

<i>Sf3b4</i> mutation in <i>Xenopus tropicalis</i> causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development

Abstract excerpt

Topics

Identifiers and source

Related research