Article
Novel and functional DNA sequence variants within the GATA6 gene promoter in ventricular septal defects.
International journal of molecular sciences - 17 Jul 2014
Li Chunyu, Li Xianke, Pang Shuchao, Chen Wei, Qin Xianyun, Huang Wenhui, Zeng Changqing, Yan Bo
Abstract excerpt
Congenital heart disease (CHD) is the most common birth defect in humans. Genetic causes and underlying molecular mechanisms for isolated CHD remain largely unknown. Studies have demonstrated that GATA transcription factor 6 (GATA6) plays an essential role in the heart development. Mutations in GATA6 gene have been associated with diverse types of CHD. As GATA6 functions in a dosage-dependent manner, we...
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