Fbrsl1 is required for cranial neural crest development and reflects a conserved function of the human disease-associated protein.

Abstract excerpt

We recently identified a rare complex syndrome with craniofacial malformations caused by truncating variants in fibrosin-like 1 (FBRSL1). To investigate the function of Fbrsl1 in craniofacial development, we used the Xenopus laevis model to study the cranial neural crest (NC). While Fbrsl1 was largely dispensable for NC induction and early migration, its loss of function impaired NC differentiation and cartilage...

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• Cartilage
• Caspase 3
• Neural Crest
• Proto-Oncogene Proteins c-mdm2
• RNA Splicing Factors