TY - JOUR
T1 - Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders
AU - Prendiville, Terence
AU - Jay, Patrick Y.
AU - Pu, William T.
N1 - Publisher Copyright:
© 2014 Cold Spring Harbor Laboratory Press; All rights reserved.
PY - 2014
Y1 - 2014
N2 - 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 andGATA4. 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.
AB - 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 andGATA4. 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.
UR - http://www.scopus.com/inward/record.url?scp=84923804091&partnerID=8YFLogxK
U2 - 10.1101/cshperspect.a013946
DO - 10.1101/cshperspect.a013946
M3 - Article
C2 - 25274754
AN - SCOPUS:84923804091
SN - 2157-1422
VL - 4
JO - Cold Spring Harbor perspectives in medicine
JF - Cold Spring Harbor perspectives in medicine
IS - 10
ER -