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Brief Funct Genomics. 2014 Jan;13(1):15-27. doi: 10.1093/bfgp/elt036. Epub 2013 Oct 7.

Genetic and functional genomics approaches targeting the Notch pathway in cardiac development and congenital heart disease.

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  • 1Program of Cardiovascular Developmental Biology, Department of Cardiovascular Development and Repair, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain. Tel.: +34-620-936633; Fax: +34-91-4531304;


The Notch signalling pathway plays crucial roles in cardiac development and postnatal cardiac homoeostasis. Gain- and loss-of-function approaches indicate that Notch promotes or inhibits cardiogenesis in a stage-dependent manner. However, the molecular mechanisms are poorly defined because many downstream effectors remain to be identified. Genome-scale analyses are shedding light on the genes that are regulated by Notch signalling and the mechanisms underlying this regulation. We review the functional data that implicates Notch in cardiac morphogenetic processes and expression profiling studies that enlighten the regulatory networks behind them. A recurring theme is that Notch cross-talks reiteratively with other key signalling pathways including Wnt and Bmp to coordinate cell and tissue interactions during cardiogenesis.


Notch; cardiogenesis; chambers; congenital heart disease; profiling; valves

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