Knockout of the gene encoding the extracellular matrix protein SNED1 results in early neonatal lethality and craniofacial malformations.

Anna BarquéKyleen JanEmanuel De La FuenteChristina L NicholasRichard O HynesAlexandra Naba

Published in: Developmental dynamics : an official publication of the American Association of Anatomists (2020)

Our results demonstrate requisite roles for SNED1 during development and neonatal survival. Importantly, the deletion of 2q37.3 in humans, a region that includes the SNED1 locus, has been associated with facial dysmorphism and short stature.

Keyphrases

extracellular matrix
genome wide
copy number
soft tissue
binding protein
genome wide association study
small molecule
transcription factor