Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders | Zendy

Terence Prendiville | Zendy; Patrick Y. Jay | Zendy; William T. Pu | Zendy

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Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders

Author(s) -

Terence Prendiville,

Patrick Y. Jay,

William T. Pu

Publication year - 2014

Publication title -

cold spring harbor perspectives in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.853

H-Index - 105

eISSN - 2472-5412

pISSN - 2157-1422

DOI - 10.1101/cshperspect.a013946

Subject(s) - penetrance , heart disease , heart development , genetics , gene , gata4 , pathogenesis , biology , transcription factor , disease , mutation , bioinformatics , medicine , phenotype , immunology , embryonic stem cell

Study of monogenic congenital heart disease (CHD) has provided entry points to gain new understanding of heart development and the molecular pathogenesis of CHD. In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4. Detailed investigation of these genes in mice and humans has expanded our understanding of heart development, shedding light on the complex genetic and environmental factors that influence expression and penetrance of CHD gene mutations.

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