Project

The molecular pathogenesis of Cutis Laxa syndromes

Code
01T02608
Duration
01 May 2009 → 31 August 2010
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Natural sciences
    • Genetics
    • Systems biology
  • Medical and health sciences
    • Dermatology
    • Molecular and cell biology
    • Orthopaedics
    • Dermatology
    • Orthopaedics
    • Dermatology
    • Molecular and cell biology
    • Orthopaedics
Keywords
TGF-beta signaling Cutis Laxa fibulin elastin
 
Project description

The molecular basis of autosomal dominant and recessive forms of Cutis Laxa will be studied and genotype-phenotype correlations will be formulated. The functional consequences of mutations in elastin and fibulin will be investigated for their effect on TGF-beta signaling and by studying cardiovascular and other phenotypic consequences in a zebrafish model.