Article
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Proceedings of the National Academy of Sciences of the United States of America - 29 Aug 2017
Timberlake Andrew T, Furey Charuta G, Choi Jungmin, Nelson-Williams Carol, Loring Erin, Galm Amy, Kahle Kristopher T, Steinbacher Derek M, Larysz Dawid, Persing John A, Lifton Richard P
Abstract excerpt
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is...
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