Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias

Figures & data

Figure 1. Schematic of the mechanisms by which TRPV4 mutations may lead to skeletal dysplasias. Ca²⁺ enters through the mutant channel, causing phosphorylation of CREB, which binds CRE and causes FST transcription. FST inhibits BMP activity, which prevents chondrocytes from undergoing hypertrophy and forming bone, thus leading to skeletal dysplasia.