De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis

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/E...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2017
Fag:
PNAS Plus
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5584457/
https://ncbi.nlm.nih.gov/pubmed/28808027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1709255114
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