A5036015001- Dermatological and Skeletal Disorders
- Skin and Cellular Biology Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Autoimmune Bullous Skin Diseases
- Heterotopic Ossification and Related Conditions
- Inflammatory Myopathies and Dermatomyositis
- Cellular Mechanics and Interactions
- Parathyroid Disorders and Treatments
- Transcranial Magnetic Stimulation Studies
- Hypertrophic osteoarthropathy and related conditions
- EEG and Brain-Computer Interfaces
- Neurological disorders and treatments
- Connective tissue disorders research
Ghent University Hospital
2017-2023
Ghent University
2020-2023
Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification disorder affecting soft connective tissues that caused by biallelic ABCC6 mutations. While the underlying pathomechanisms are incompletely understood, reduced circulatory levels of inorganic pyrophosphate (PPi)—a potent mineralization inhibitor—have been reported in PXE patients and were suggested to be useful as disease biomarker. In this study, we explored relation between PPi, genotype phenotype. For this, optimized validated...
Pseudoxanthoma elasticum (PXE) is a currently intractable genetic disorder characterized by progressive ectopic calcification in the skin, eyes and arteries. Therapeutic trials PXE are severely hampered lack of reliable biomarkers. Serum propensity T50 blood test measuring functional anticalcifying buffer capacity serum. Here, we evaluated patients aiming to investigate its determinants suitability as potential biomarker for disease severity. Fifty-seven were included this cross-sectional...
Background Biallelic pathogenic variants in the ATP-binding cassette subfamily C member 6 ( ABCC6 ) gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous are associated with an increased risk of cardiovascular and cerebrovascular disease. As prevalence general population is estimated at ~1%, identifying additional -related (sub)clinical manifestations carriers utmost importance to reduce this burden Here, we present large Belgian cohort...
Pseudoxanthoma elasticum (PXE) is an intractable Mendelian disease characterized by ectopic calcification in skin, eyes and blood vessels. Recently, increased activation of the DNA damage response (DDR) was shown to be involved PXE pathogenesis, while DDR/PARP1 inhibitor minocycline found attenuate aberrant mineralization cells zebrafish. In this proof-of-concept study, we evaluated anticalcifying properties Abcc6−/− mice, established mammalian model. mice received oral supplementation (40...
Ectopic mineralization is a pathologic process resulting in inappropriate biomineralization of soft tissues such as the skin and blood vessels. It can be found frequent western disorders chronic kidney disease diabetes mellitus, though it also part spectrum primary genetic pseudoxanthoma elasticum (PXE). These heritable are associated with significant morbidity mortality due to extensive ectopic variety tissues. Early diagnosis multidisciplinary treatment follow-up reference center uttermost...
Primary ectopic mineralization disorders: from (vascular) calcification to syndrome Ectopic is a pathologic process resulting in inappropriate biomineralization of soft tissues such as the skin and blood vessels. It can be found frequent western disorders chronic kidney disease diabetes mellitus, though it also part spectrum primary genetic pseudoxanthoma elasticum (PXE). These heritable are associated with significant morbidity mortality due extensive variety tissues. Early diagnosis...