Article

TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signaling

2026-05-05

Abstract excerpt

<title>Abstract</title> <p> RNA-Binding Motif Protein 8A (RBM8A) is a core component of the exon junction complex (EJC), which plays a fundamental role in post-transcriptional RNA regulation. Mutations in the <italic>RBM8A</italic> gene cause thrombocytopenia-absent radius (TAR) syndrome, characterized by reduced platelet number and radial defects. However, how its function contributes to bone development rema...

Topics

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

Identifiers and source

Literature Corpus work: 73d814ee-c7a7-540e-b500-1c64c9f423a7
DOI: 10.21203/rs.3.rs-9543669/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signalingDOI 10.21203/rs.3.rs-9543669/v1Read

TAR syndrome causal gene <i>RBM8A</i> is critical for embryonic bone development and proper Hedgehog signalingSemantic proximity Read

Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling.Semantic proximity Read

Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signalingSemantic proximity Read

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8ASemantic proximity Read

The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development.Semantic proximity Read

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.Semantic proximity Read

The Exon Junction Complex Factor RBM8A in Glial Fibrillary Acid Protein-Expressing Astrocytes Modulates Locomotion BehaviorsSemantic proximity Read

Arhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal AbnormalitiesSemantic proximity Read

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.Semantic proximity Read

Microarray analysis on Runx2-deficient mouse embryos reveals novel Runx2 functions and target genes during intramembranous and endochondral bone formation.Semantic proximity Read

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.Semantic proximity Read

Base editing derived models of human <i>WDR34</i> and <i>WDR60</i> disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportSemantic proximity Read