Article
Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.
JCI insight - 23 Mar 2017
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
Abstract excerpt
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 point mutation murine model, akin to its human counterpart disease-generating mutation. Our model fully reproduces the...
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