Progeroid malformation syndrome caused by SLC25A24 mutations

An international group of researchers have revealed de novo mutations in SLC25A24 as the genetic cause of Gorlin-Chaudry-Moss syndrome (GCMS) in five affected children. This congenital disease [...]

Gene of the Month – October: PRKCE

The PRKCE gene encodes protein kinase C-epsilon, a member of a large protein kinase family of enzymes that activate important proteins and are involved in cellular functions as for example [...]