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- W1967573721 abstract "Background Congenital heart disease (CHD) is the most common congenital defect, affecting 1% of all livebirths. Initial cardiac development and the subsequent maturation of the heart are temporally and spatially regulated by several Bone Morphogenetic Proteins (BMPs). BMP signaling plays an important role in the specification and patterning of the early embryo. Animal model studies have established a strong link between BMPs and cardiac development. At least 6 BMPs (BMP2, BMP4, BMP5, BMP6, BMP7 & BMP10) are expressed in the heart where they have both independent and redundant functions. BMP2, 4 & 7 are expressed in the AtrioVentricular cushion and Out Flow Tract (OFT) and helps in their formation. However due to functional redundancy of BMP ligands, relatively little is known about the role of individual BMPs. The association of BMPs with CHD has not been studied so far in human subjects. Here we report the genetic variants in BMP2 (NM_001200.2), BMP4 (NM_001202.3) and BMP7 (NM_001719.2) in individuals with CHD." @default.
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- W1967573721 date "2014-01-01" @default.
- W1967573721 modified "2023-10-15" @default.
- W1967573721 title "Identification of mutations in bone morphogenetic protein 2, 4 and 7 in congenital heart disease patients from Indian population" @default.
- W1967573721 doi "https://doi.org/10.1186/1755-8166-7-s1-p32" @default.
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