4.5 Article

In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events

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Summary: Cleft lip and/or palate (CL/P) are common anomalies occurring in 1/800 live-births. Pathogenic SPECC1L variants have been identified in patients with CL/P, signifying a primary role for SPECC1L in craniofacial development. The study reveals that SPECC1L deficiency affects cellular movement and remodeling during palatal shelf elevation, and highlights a novel role for SPECC1L in collective movement through modulation of PI3K-AKT signaling.

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