Article
Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.
Communications biology - 23 Aug 2024
Caetano da Silva Caroline, Macias Trevino Claudio, Mitchell Jason, Murali Hemma, Tsimbal Casey, Dalessandro Eileen, Carroll Shannon H, Kochhar Simren, Curtis Sarah W, Cheng Ching Hsun Eric, Wang Feng, Kutschera Eric, Carstens Russ P, Xing Yi, Wang Kai, Leslie Elizabeth J, Liao Eric C
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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