Publications by authors named "Eileen Dalessandro"
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.
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- Orofacial cleft (OFC) is a common birth defect linked to disruptions in specific RNA splicing regulators that affect craniofacial development.
- Using mutant zebrafish and mouse cell models, researchers found that many gene variants thought to cause OFC were actually harmless, emphasizing the need for thorough testing of these variants.
- The study identified 13 genetic variants from OFC patients, confirming the critical role of a specific gene in human OFC and showing that its proper functioning is essential for healthy embryonic oral development.
is a key genetic determinant of syndromic and non-syndromic cleft lip and palate. The ability to interrogate post-embryonic requirements of has been hindered, as global ablation in the mouse causes neonatal lethality. Prior work analyzing in mouse models defined its role in the embryonic surface epithelium and periderm where it is required to regulate cell proliferation and differentiation.
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