Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling

Mutations in the Nkx2-5 gene are a main cause of congenital heart disease. Several studies have addressed the phenotypic consequences of disrupting the Nkx2-5 gene locus, although animal models to date failed to recapitulate the full spectrum of the human disease. Here, we describe a new Nkx2-5 poin...

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Publicado en:JCI Insight
Autores principales: Furtado, Milena B., Wilmanns, Julia C., Chandran, Anjana, Perera, Joelle, Hon, Olivia, Biben, Christine, Willow, Taylor J., Nim, Hieu T., Kaur, Gurpreet, Simonds, Stephanie, Wu, Qizhu, Willians, David, Salimova, Ekaterina, Plachta, Nicolas, Denegre, James M., Murray, Stephen A., Fatkin, Diane, Cowley, Michael, Pearson, James T., Kaye, David, Ramialison, Mirana, Harvey, Richard P., Rosenthal, Nadia A., Costa, Mauro W.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2017
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5358496/
https://ncbi.nlm.nih.gov/pubmed/28352650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.88271
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