Acronym
FWO13-FKM-002
Code
3L000213
Duration
01 October 2013 → 30 September 2028
Funding
Research Foundation - Flanders (FWO)
Promotor
Research disciplines
-
Natural sciences
- Genetics
- Systems biology
-
Medical and health sciences
- Cardiac and vascular medicine
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Physiology
- Cardiac and vascular medicine
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Physiology
- Cardiac and vascular medicine
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Physiology
Keywords
genodermatosis
cellular pathwaysn clinical study
pseudoxanthoma elasticum
modifier gene identification
ectopic mineralization
Project description
Pseudoxanthoma elasticum (PXE) is characterized by skin, ocular and cardiovascular manifestations, based on mineralization of elastic fibres. This project aims i) to gain insight in the cellular mechanisms leading to ectopic mineralization, ii) a comprehensive study of the cardiovascular phenotype of patients and their family and iii) to identify of modifier genes to optimize the follow-up of patients.