Article

Functional analysis of <i>ESRP1/2</i> gene variants and <i>CTNND1</i> isoforms in orofacial cleft pathogenesis

2024-07-02

Abstract excerpt

Orofacial cleft (OFC) is a common human congenital anomaly. Epithelial-specific RNA splicing regulators ESRP1 and ESRP2 regulate craniofacial morphogenesis and their disruption result in OFC in zebrafish, mouse and humans. Using esrp1/2 mutant zebrafish and murine Py2T cell line models, we functionally tested the pathogenicity of human ESRP1/2 gene variants. We found that many variants predicted by in silico...

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Literature Corpus work: 10308137-b465-5a92-98a7-b49f507fa9cb
DOI: 10.1101/2024.07.02.601574

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