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Article

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

Developmental biology - 1 Dec 2025

Kocere Agnese, Chiavacci Elena, Soneson Charlotte, Jacobson Seth T, Harrison Emma N, Méndez-Acevedo Kevin Manuel, MacGowan Jacalyn S, Wells Harrison H, Hiltabidle Max S, Raghunath Azhwar, Shavit Jordan A, Panáková Daniela, Williams Margot L K, Robinson Mark D, Mosimann Christian, Burger Alexa

Abstract excerpt

Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital condition with reduced platelets, forelimb anomalies, and variable heart and kidney defects. TAR syndrome is caused by mutations in RBM8A/Y14, a component of the exon junction complex. How perturbing a general mRNA-processing factor causes the selective TAR Syndrome phenotypes remains unknown. Here, we connect zebrafish rbm8a perturbation to early...

Topics

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Cell Polarity
Hematopoiesis
Mesoderm
Radius
Thrombocytopenia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Wnt Signaling Pathway

Zebrafish Proteins

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Identifiers

PMID: 40907933
DOI: 10.1016/j.ydbio.2025.08.021
PMCID: PMC12863336

Genes

RBM8A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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