A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation

BACKGROUND: Heterozygous human mutations of NKX2-5 are highly penetrant and associated with varied congenital heart defects. The heterozygous knockout of murine Nkx2-5, in contrast, manifests less profound cardiac malformations, with low disease penetrance. We sought to study this apparent discrepan...

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Detalhes bibliográficos
Main Authors: Ashraf, Hassan, Pradhan, Lagnajeet, Chang, Eileen I., Terada, Ryota, Ryan, Nicole J., Briggs, Laura E., Chowdhury, Rajib, Zárate, Miguel A., Sugi, Yukiko, Nam, Hyun-Joo, Benson, D. Woodrow, Anderson, Robert H., Kasahara, Hideko
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4140955/
https://ncbi.nlm.nih.gov/pubmed/25028484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.113.000281
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