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Moleculair-genetische oorzaken van de zieke van Paget en aanverwante ziektebeelden Universiteit Antwerpen
Ontrafelen van het genetisch landschap van aandoeningen met hoge botmassa en de ziekte van Paget: Van variant identificatie en validatie tot zebravismodellen Universiteit Antwerpen
The heterogeneous landscape of genetic skeletal disorders is a major burden on the healthcare system worldwide. The latest version of the Nosology of genetic skeletal disorders (2023) includes 771 disease entities associated with 552 different causal genes. These numbers reflect the progress made in molecular research over the past years. However, there remain still a number of unsolved cases. Therefore, we aimed to further elucidate the ...
Valkuil in de stagering van prostaatcarcinoom Universiteit Gent
Toegenomen traceropname op botscintigrafie bij de stagering van prostaatcarcinoom doet metastasen vermoeden, maar kan ook het gevolg zijn van de ziekte van Paget. Botscintigrafie heeft een hoge sensitiviteit voor het aantonen van verhoogde botombouw. Nadeel is de lage specificiteit van de aangetoonde letsels. De signaalintensiteiten van pagetletsels op magnetische-resonantiebeeldvorming (MRI) verschillen naargelang het ziektestadium en kunnen ...
Three VCP Mutations in Patients with Frontotemporal Dementia Universiteit Antwerpen
Valosin-containing protein (VCP) is involved in multiple cellular activities. Mutations in VCP lead to heterogeneous clinical presentations including inclusion body myopathy with Paget's disease of the bone, frontotemporal dementia and amyotrophic lateral sclerosis, even in patients carrying the same mutation. We screened a cohort of 48 patients with familial frontotemporal dementia (FTD) negative for MAPT, GRN, and C9orf72 mutations for other ...
Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide ($G_{4}C_{2}$) repeat expansion in C9orf72 gene Universiteit Antwerpen
The C9orf72 expansion is considered a major genetic cause of familial frontotemporal dementia (FTD) in several patients' cohorts. Interestingly, C9orf72 expansion carriers, present also abundant neuronal p62-positive inclusions. Although p62/SQSTM1 mutations were initially associated with Paget disease of bone (PDB), they have been also identified in FTD. We describe an FTD-PDB family in which the proband presented with behavioral FTD phenotype ...
A panel-based sequencing analysis of patients with Paget's disease of bone suggests enrichment of rare genetic variation in regulators of NF-κB signaling and supports the importance of the 7q33 locus Universiteit Antwerpen
Paget's disease of bone (PDB) is a common bone disorder characterized by focal lesions caused by increased bone turnover. Monogenic forms of PDB and PDB-related phenotypes as well as genome-wide association studies strongly support the involvement of genetic variation in components of the NF-kappa B signaling pathway in the pathogenesis of PDB. In this study, we performed a panel-based mutation screening of 52 genes. Single variant association ...
Familial Paget's disease of bone Universiteit Antwerpen
Objective: Familial Paget's disease of bone is inherited as an autosomal-dominant trait and mutations in the sequestosome 1 (SQSTM1) gene have been reported with variable frequency in patients with familial disease. The natural history, however, of the disease in family members with or without SQSTM1 mutations is unknown. Methods: To address this question, we investigated members of families with Paget's disease identified and genotyped in 2000 ...