Research Explorer

Project

Anlaysis of the genetic defect in melorheostosis and the study of the molecular and biological effects of LEMD3 haploinsufficiency
Code
3E007807
Duration
01 October 2007 → 30 September 2010
Funding
Regional and community funding: Special Research Fund, Research Foundation - Flanders (FWO)
Research disciplines
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
Keywords
genetics melorheostosis LEMD3 bone density
 
Project description
 

In 2004, we demonstrated that loss-of-function mutations in LEMD3 can lead to osteopoikilosis, the Buschke-Ollendorff syndrome (BOS) and non-sporadic melorheostosis. This project aims 1) to identify the causal genetic defect in sporadic melorheostosis though a candidate gene approach, and 2) to study the biological effects of LEMD3 haploinsufficiency and the pathways that lead to the hyperostotic lesions in these skeletal dysplasias.