Article
Loss of RNA expression and allele-specific expression associated with congenital heart disease.
Nature communications - 27 Sept 2016
McKean David M, Homsy Jason, Wakimoto Hiroko, Patel Neil, Gorham Joshua, DePalma Steven R, Ware James S, Zaidi Samir, Ma Wenji, Patel Nihir, Lifton Richard P, Chung Wendy K, Kim Richard, Shen Yufeng, Brueckner Martina, Goldmuntz Elizabeth, Sharp Andrew J, Seidman Christine E, Gelb Bruce D, Seidman J G
Abstract excerpt
Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression...
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