Flóra Szeri

The paper identifies conserved transcription factors regulating PPi homeostasis genes in mice and humans, showing co-expression and functional links to mineralization factors.

This study identifies ABCC6 and ANK as regulators of extracellular pyrophosphate and citrate, showing their roles in mineral deposition and bone health, with ANK also preventing soft tissue calcification.

The paper investigates incomplete penetrance of the p.R391G ABCC6 variant in pseudoxanthoma elasticum, suggesting the need for an interacting partner for disease development.

This study identifies ANKH's role in extracellular citrate and pyrophosphate homeostasis and its impact on bone mechanical properties.