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Project
Study of the molecular background and pathophysiology of monogenic disorders with structural cardiovasuclar anomalies
The development and homeostasis of the cardiovascular system is studied in 3 subprojects:
1) Creation and etiopathogenetic study of slc2a10 and gulo double knockout mice and slc2a10 knockout zebrafish as models for arterial tortuosity syndrome.
2) Exome sequencing in rare elastinopathies without known genetic defect
3) Evaluation of somatic mozaicism and de novo mutations underlying congenital cardiopathies using exome sequencing.
Date:1 Oct 2014 → Today
Keywords:arterial tortuosity, Cardiovascular development
Disciplines:Molecular and cell biology, Cardiac and vascular medicine, Laboratory medicine, Medical systems biology, Genetics, Systems biology