Project

Identification of the genetic defect in sporadic melorheostosis by means of whole exome sequencing

Code
365K0109
Duration
01 January 2009 → 31 December 2009
Funding
Funding by bilateral agreement (private and foundations)
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Molecular and cell biology
    • Molecular and cell biology
Keywords
melorheostosis
 
Project description

This project aims to identify the genetic defect in sporadic melorheostosis. In addition we aim to gain more insights into the precise role of
LEMD3 in TGFbeta/BMP signaling and regulation of bone density. For this study we will use several approaches including yeast two hybrid
experiments, ChIP-seq, a transgenic mouse model and whole-exome sequencing.