Publications
HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects Ghent University
Epidermal nevus syndrome (ENS) comprises a heterogeneous group of neurocutaneous syndromes associated with the presence of epidermal nevi and variable extracutaneous manifestations. Postzygotic activating HRAS pathogenic variants were previously identified in nevus sebaceous (NS), keratinocytic epidermal nevus (KEN), and different ENS, including Schimmelpenning-Feuerstein-Mims and cutaneous-skeletal-hypophosphatasia syndrome (CSHS). Skeletal ...
The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization Ghent University
The activation of JAK/STAT3 signaling and the complement system modulate inflammation in the primary human dermal fibroblasts of PXE patients Ghent University
Previous studies revealed a link between inflammation and overactivation of the Janus kinase (JAK)/signal transducer and activator of transcription (STAT) signaling in syndromes associated with aging. Pseudoxanthoma elasticum (PXE), a rare autosomal-recessive disorder, arises from mutations in ATP-binding cassette subfamily C member 6 (ABCC6). On a molecular level, PXE shares similarities with Hutchinson-Gilford progeria syndrome, such as ...
Significance of premature vertebral mineralization in zebrafish models in mechanistic and pharmaceutical research on hereditary multisystem diseases Ghent University
Zebrafish are increasingly becoming an important model organism for studying the pathophysiological mechanisms of human diseases and investigating how these mechanisms can be effectively targeted using compounds that may open avenues to novel treatments for patients. The zebrafish skeleton has been particularly instrumental in modeling bone diseases as-contrary to other model organisms-the lower load on the skeleton of an aquatic animal enables ...
Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum Ghent University
Minocycline counteracts ectopic calcification in a murine model of pseudoxanthoma elasticum : a proof-of-concept study Ghent University
Minocycline counteracts ectopic calcification in a murine model of pseudoxanthoma elasticum Ghent University
Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study Ghent University
Minocycline attenuates excessive DNA damage response and reduces ectopic calcification in pseudoxanthoma elasticum Ghent University
Pseudoxanthoma elasticum (PXE) is a hereditary ectopic calcification disorder affecting the skin, eyes, and blood vessels. Recently, the DNA damage response (DDR), in particular PARP1, was shown to be involved in aberrant mineralization, raising the hypothesis that excessive DDR/PARP1 signaling also contributes to PXE pathogenesis. Using dermal fibroblasts of patients with PXE and healthy controls, (lesional) skin tissue, and abcc6a‒/‒ ...