SMAD1 Loss-of-Function Variant Responsible for Congenital Heart Disease

Figure 3

Nullified synergistic transactivation between SMAD1 and MYOCD by the variation. Biological measurements of the synergistic transcriptional activation of the NKX2.5 promoter in cultivated COS7 cells by SMAD1; MYOCD was abrogated by the Tyr88 variation. Three cellular transfection experiments were repeated in triplicate for every expression plasmid. All values are given as the deviation of the results from three independent reporter gene analyses. Both and indicate that , in comparison with their corresponding wild-type counterparts.