Research Explorer

Project

Study of the molecular pathogenesis of forkhead transcription factors in human developmental disorders.
Code
01SB1409
Duration
01 January 2009 → 31 October 2011
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Molecular and cell biology
    • Molecular and cell biology
Keywords
forkhead transcription factor human developmental disease FOXL2 BPES
 
Project description
 

A first aim is the development of a functional assay for intragenic FOXL2 mutations, for predictive testing for ovarian dysfunction in BPES. A second aim is the identification of the genetic defect in BPES patients without an intragenic mutation, gene deletion or large long-range genetic defect, and functional studies of potential regulators of FOXL2 transcription.