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 ...
Assisted oocyte activation does not overcome recurrent embryo developmental problems Ghent University
STUDY QUESTION Can recurrent embryo developmental problems after ICSI be overcome by assisted oocyte activation (AOA)? SUMMARY ANSWER AOA did not improve blastocyst formation in our patient cohort with recurrent embryo developmental problems after ICSI. WHAT IS KNOWN ALREADY The use of AOA to artificially induce calcium (Ca2+) rises by using Ca2+ ionophores (mainly calcimycin and ionomycin) has been reported as very effective in overcoming ...
Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos Ghent University
Human germline gene correction by targeted nucleases holds great promise for reducing mutation transmission. However, recent studies have reported concerning observations in CRISPR-Cas9-targeted human embryos, including mosaicism and loss of heterozygosity (LOH). The latter has been associated with either gene conversion or (partial) chromosome loss events. In this study, we aimed to correct a heterozygous basepair substitution in PLCZ1, related ...
Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for Osteogenesis Imperfecta Ghent University
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture Ghent University
3-4 cases per 100,000 persons per year are estimated to suffer from thoracic aortic dissection (TAD). Weakening of the vessel wall of the thoracic aorta increases the risk for TAD and rupture, which associates with a high mortality rate. Current treatment options in thoracic aortic dissections (TAAD) are limited to a pharmacological reduction of hemodynamic stress and surgical repair at a critical diameter. Despite the availability of different ...