Journal
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE
Volume 4, Issue 10, Pages -Publisher
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
DOI: 10.1101/cshperspect.a013946
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Funding
- Boston Children's Hospital Translational Research Program
- American Heart Association award
- National Heart, Lung, and Blood Institute [R01 HL095712]
- Irish Cardiac Society Brian McGovern
- American Heart Association, the Children's Heart Foundation
- Washington University School of Medicine
- St. Louis Children's Hospital Children's Discovery Institute
- National Institutes of Health [R01 HL105857]
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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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