Article
Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.
PloS one - 26 May 2010
Stevens Kristen N, Hakonarson Hakon, Kim Cecilia E, Doevendans Pieter A, Koeleman Bobby P C, Mital Seema, Raue Jennifer, Glessner Joseph T, Coles John G, Moreno Victor, Granger Anne, Gruber Stephen B, Gruber Peter J
Abstract excerpt
Congenital heart disease (CHD) is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1) is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital...
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