Publications
Chosen filters:
Chosen filters:
Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management Ghent University
AIMS: one of the most incapacitating symptoms of pseudoxanthoma elasticum (PXE) - a connective tissue disease with remarkable variability in clinical severity - is subretinal (choroidal) neovascularization and subsequent blindness, due to increased VEGFA activity. We aim to validate single nucleotide polymorphisms (SNPs) in the VEGFA gene as prognostic biomarkers for the PXE retinopathy which could be used for ocular risk stratification and ...
Efficiency of exome sequencing for the molecular diagnosis and modifier gene identification in pseudoxanthoma elasticum Ghent University
The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive ectopic mineralization disorder, has become more complex as mutations in multiple genes - ABCC6, ENPP1 and GGCX - can cause similar phenotypes. Further, PXE shows important clinical variability, with growing importance of modifier genes. Thus, often multiple genes need to be screened in a patient. Next Generation Sequencing, including whole exome sequencing (WES), ...
Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach Ghent University
Soft tissue mineralization (STM) results from the perturbation of a delicate balance between calcification mediators, leading to ST destruction with important morbidity and mortality. The mechanisms underlying STM are however poorly understood, limiting precision medicine in and treatment of patients. Pseudoxanthoma elasticum (PXE), characterized by elastic fiber mineralization due to ABCC6 mutations, is considered a paradigm STM disorder. ...