Study on the envolvement of LEMD3 and neighbouring genes on 12q14 in the pathogenesis of conditions with elevated bone density and growth disordes

01 January 2007 → 30 December 2012
Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Molecular and cell biology
    • Orthopaedics
    • Orthopaedics
    • Molecular and cell biology
    • Orthopaedics
TGFbeta signaling pathway melorheostosis BMP signaling knockout mouse LEMD3 bone density
Project description

This project aims to identify the genetic defect that is responsible for sporadic melorheostosis. The possibility of a somatic LEMD3 mutation will be investigated. The role of LEMD3 is bone homeostasis and endochondral ossification will be studied in a transgenic mouse. The last objective is the identification of the gene responsible for the short stature in the 12q14 microdeletion syndrome.