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Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report Ghent University
Stated Preferences on Shared Automated Vehicles in the Context of Mode Choice Model Estimation for Different Trip Purposes: A Case Study for Flanders, Belgium KU Leuven
Vehicle automation and shared and on-demand mobility are recognized as a technology and concept that, combined, can bring significant opportunities for our mobility system. However, when deployed improperly, they could entail risks as well. Regulation will be necessary to steer the deployment of this technology into a sustainable direction. Therefore, it is necessary to gain knowledge of potential user-profiles and insights into mode choice ...
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features KU Leuven
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related accumulation of lipofuscin can be challenging. Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid ...
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes University of Antwerp Flanders Institute for Biotechnology
Transmembrane protein 106B (TMEM106B) is a tightly regulated glycoprotein predominantly localized to endosomes and lysosomes. Genetic studies have implicated TMEM106B haplotypes in the development of multiple neurodegenerative diseases with the strongest effect in frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP), especially in progranulin (GRN) mutation carriers. Recently, cryo-electron microscopy (cryo-EM) studies showed that ...
Cyclin-dependent kinase 12 increases 3' end processing of growth factor-induced c-FOS transcripts Institute of Tropical Medicine
Transcriptional cyclin-dependent kinases (CDKs) regulate RNA polymerase II initiation and elongation as well as cotranscriptional mRNA processing. In this report, we describe an important role for CDK12 in the epidermal growth factor (EGF)-induced c-FOS proto-oncogene expression in mammalian cells. This kinase was found in the exon junction complexes (EJC) together with SR proteins and was thus recruited to RNA polymerase II. In cells ...
Modeling and analysis of spatial genome organization Hasselt University
Development of chromosome conformation capture (3C) and its derivative techniques such as Hi-C and ChIA-PET allow to capture the details of the genome organization on multiple scales and led to many new insights into the mechanisms of genome functioning. It is already well established that genome organization is closely linked to genomic processes such as gene expression regulation, cell development and cell differentiation. Moreover, a number ...
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders University of Antwerp KU Leuven
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric ...
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum KU Leuven
PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. ...
Cell-free DNA from cerebrospinal fluid can be used to detect the EGFR mutation status of lung adenocarcinoma patients with central nervous system metastasis University of Antwerp
Background: EGFR tyrosine kinase inhibitors (TKIs) have revolutionized the therapeutic approach for EGFR mutated patients. However, acquired resistance to EGFR-TKI therapy is unavoidable. Repeat biopsy cannot be used, and peripheral blood detection shows a low positive rate in cases of brain-only disease progression. Methods: Droplet digital polymerase chain reaction (PCR) (ddPCR) was performed on the plasma and cerebrospinal fluid (CSF) samples ...