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Article

Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development

18 Apr 2019

Abstract excerpt

The neural crest (NC) gives rise to a multitude of fetal tissues, and its misregulation is implicated in congenital malformations. Here, we investigated molecular mechanisms pertaining to NC-related symptoms in Bohring-Opitz syndrome (BOS), a developmental disorder linked to mutations in the Polycomb group factor Additional sex combs-like 1 (ASXL1). Genetically edited human pluripotent stem cell lines that were...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 31006630
DOI: 10.1016/j.stemcr.2019.03.006

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