Publicaties
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Marfan syndrome Universiteit Gent
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries, the pericondrium and structures in the eye. Up to 25% of individuals with MFS have de novo ...
Synchrotron imaging based computational models of blood flow dynamics in the ventral aorta of adult zebrafish Universiteit Gent
The ESC clinical practice guidelines for the management of adult congenital heart disease 2020 Universiteit Gent
MEK1/2 inhibition in murine heart and aorta after oral administration of refametinib supplemented drinking water Universiteit Gent
Upregulation of the RAS-RAF-MEK-ERK-MAPK pathway is involved in the development of several human tumors, aortic aneurysms, atherosclerosis, and cardiomyopathy. Refametinib, a highly selective MEK-inhibitor, has already shown antineoplastic activity in phase II trials. Furthermore, it showed potency to attenuate aortic root growth in murine models. Current formulations of this drug however necessitate oral gavage as a delivery method for ...
Corrosion casting of the cardiovascular structure in adult zebrafish for analysis by scanning electron microscopy and X‐ray microtomography Universiteit Gent
Zebrafish have come to the forefront as a flexible, relevant animal model to study human disease, including cardiovascular disorders. Zebrafish are optically transparent during early developmental stages, enabling unparalleled imaging modalities to examine cardiovascular structure and function in vivo and ex vivo. At later stages however, the options for systematic cardiovascular phenotyping are more limited. To visualize the complete vascular ...
Spontaneous right ventricular pseudoaneurysms and increased arrhythmogenicity in a mouse model of Marfan syndrome Universiteit Gent
Patients with Marfan syndrome (MFS), a connective tissue disorder caused by pathogenic variants in the gene encoding the extracellular matrix protein fibrillin-1, have an increased prevalence of primary cardiomyopathy, arrhythmias, and sudden cardiac death. We have performed an in-depth in vivo and ex vivo study of the cardiac phenotype of Fbn1mgR/mgR mice, an established mouse model of MFS with a severely reduced expression of fibrillin-1. ...
Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome Universiteit Gent
Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Myocardial dysfunction has been demonstrated in MFS patients and mouse models, but little is known about the intrinsic effect on the cardiomyocytes (CMs). In this study, both induced pluripotent stem cells derived from a MFS-patient and the line with the corrected FBN1 mutation were differentiated to CMs. Several ...