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    Human Heart Function tagged posts

    1 Gene Mutation, 2 Diseases, many insights into Human Heart Function

    December 16, 2016, Categories  Biology/Biotechnology, Health/Medical

    Highlights •Systems-level approach reveals GATA4 roles in human cardiac development and function •Heterozygous GATA4 missense mutation impairs cardiac gene program •GATA4 G296S mutation disrupts TBX5 genome occupancy at cardiac super-enhancers •PI3K signaling is a key “hub” in the GATA4 gene regulatory network

    Highlights •Systems-level approach reveals GATA4 roles in human cardiac development and function •Heterozygous GATA4 missense mutation impairs cardiac gene program •GATA4 G296S mutation disrupts TBX5 genome occupancy at cardiac super-enhancers •PI3K signaling is a key “hub” in the GATA4 gene regulatory network

    Scientists linked a single gene mutation to 2 types of heart disease: one causes a hole in the heart of infants, and the other causes heart failure. Using cells donated by a family with the mutation, the researchers gained insight into congenital heart disease, heart development, and healthy heart function...

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