Figure 3
From: Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
BMPR1BK325N impacts receptor activity. Transfection of primary limb bud-derived mesenchymal cells was used to evaluate the impact of heterologous expression of either wildtype (BMPR1BWT), mutant (BMPR1BK325N), or control pKS on Sox-driven reporter activity (Col2-Luc). BMP4 (20 ng/ml) was added 24 h post transfection, and luciferase activity was assessed 48 h post transfection. P-values were calculated using one-way ANOVA with Tukey post-hoc test. Error bars represent 1 SD.
