- Glioma Diagnosis and Treatment
- Scientific Computing and Data Management
- Biomedical Text Mining and Ontologies
- RNA Interference and Gene Delivery
- Research Data Management Practices
- Ethics in Clinical Research
- DNA and Nucleic Acid Chemistry
- Viral Infectious Diseases and Gene Expression in Insects
- Dermatology and Skin Diseases
- Cancer Genomics and Diagnostics
- IL-33, ST2, and ILC Pathways
- Insect Resistance and Genetics
- Cancer Cells and Metastasis
- Bioinformatics and Genomic Networks
- Genetics, Bioinformatics, and Biomedical Research
- Asthma and respiratory diseases
- Gene expression and cancer classification
- CAR-T cell therapy research
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Cancer, Hypoxia, and Metabolism
- Ferroptosis and cancer prognosis
- Virus-based gene therapy research
- Cancer Research and Treatments
- Entomopathogenic Microorganisms in Pest Control
Arbed (Luxembourg)
2018-2024
Erasmus MC Cancer Institute
2013-2019
Erasmus MC
2011-2018
The Francis Crick Institute
2017
Erasmus University Rotterdam
2012-2016
Siemens (Austria)
2014-2016
Elisabeth-TweeSteden Ziekenhuis
2013
Siena Biotech (Italy)
2005-2009
University of Edinburgh
2008
GlaxoSmithKline (United Kingdom)
2002-2003
Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution all clinically relevant disease DCM phenotypes in larger cohorts. We utilized next-generation sequencing overcome these and screened a large cohort. In this multi-centre, multi-national study, we enrolled 639 patients with sporadic or familial DCM. To samples, applied standardized protocol for ultra-high coverage 84 genes, leading 99.1%...
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing high-resolution imaging technologies key drivers of this rapid crucial transformation. Technological innovation combined with automation miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How we going to deal exponential increase production? The potential "big data" for improving health is enormous but, at the same time, face a wide range challenges overcome...
Lymphodepletion (LD) or conditioning is an essential step in the application of currently used autologous and allogeneic chimeric antigen receptor T-cell (CAR-T) therapies as it maximizes engraftment, efficacy long-term survival CAR-T. Its main modes action are depletion modulation endogenous lymphocytes, microenvironment for improved CAR-T expansion persistence, reduction tumor load. However, most LD regimens provide a broad fairly unspecific suppression T-cells well other hematopoietic...
A mis-sense point mutation in the human VAPB gene is associated with a familial form of motor neuron disease that has been classified as Amyotrophic Lateral Sclerosis type VIII. Affected individuals suffer from spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) or an atypical slowly progressing ALS. Mammals have two homologous VAP genes, vapA and vapB. VAPA share 76% similar identical amino acid residues; both are COOH-terminally anchored membrane proteins enriched on...
Adult stem cell niches are often co-inhabited by cycling and quiescent cells. In the intestine, lineage tracing has identified Lgr5(+) cells as frequently cells, whereas Bmi1(+), mTert(+), Hopx(+) Lrig1(+) appear to be more quiescent. Here, we have applied a non-mutagenic cycle independent approach isolate characterize small intestinal label-retaining (LRCs) persisting in lower third of crypt Lieberkühn for up 100 days. LRCs do not express markers proliferation enterocyte, goblet or...
Abstract Objective: A high percentage of grade II and III gliomas have mutations in the gene encoding isocitrate dehydrogenase ( IDH1 ). This mutation is always a heterozygous point that affects amino acid arginine at position 132 results loss its native enzymatic activity gain alternative (producing D‐2‐hydroxyglutarate). The objective this study was to investigate cellular effects R132H . Methods: Functional consequences were examined among others using fluorescence‐activated cell sorting,...
Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both processing and transcription regulation. Importantly, its human development disease so far largely unexplored. Here, we provide evidence biallelic Complex Subunit 1 (INTS1) 8 (INTS8) gene mutations are associated with rare recessive neurodevelopmental syndromes. Three unrelated individuals of Dutch ancestry showed the same homozygous truncating INTS1 mutation. siblings...
New precision medicine therapies are urgently required for glioblastoma (GBM). However, to date, efforts subtype patients based on molecular profiles have failed direct treatment strategies. We hypothesised that interrogation of the GBM tumour microenvironment (TME) and identification novel TME-specific subtypes could inform new immunotherapy strategies.A refined validated cell population (MCP) counter method was applied >800 patient tumours (GBM-MCP-counter). Specifically, partition around...
To date, seven different human histone deacetylases (HDACs) have been identified, which fall into two distinct classes. We isolated and characterized a cDNA encoding novel HDAC, we name HDAC8. HDAC8 shows high degree of sequence similarity to HDAC1 HDAC2 thus belongs the class I HDACs. is expressed in variety tissues. Human cells overexpressing localize protein sub-nuclear compartments whereas an even nuclear distribution. In addition, gene localized on X chromosome at position q13, close...
<ns3:p>Objective The European Health Data Space (EHDS) shapes the digital transformation of healthcare in Europe. EHDS regulation will also accelerate use health data for research, innovation, policy-making, and regulatory activities secondary (known as EHDS2). Integration heterogeneous Evidence towards Regulatory HTA Acceptance (IDERHA) project builds one first pan-European spaces alignment with EHDS2 requirements, addressing lung cancer a pilot. Methods In this study, we conducted...
Novel reduced sugar gemini amphiphiles linked through their tertiary amino head groups via alkyl spacers of 4 or 6 carbons, and with varying (unsaturated) tail lengths 12–18, have been synthesized tested for transfection in vitro an adherent Chinese hamster ovary cell line (CHO‐K1). Transfection efficiencies peaked at 2.7 times that the commercial standard Lipofectamine Plus/2000 pure solutions compound bearing unsaturated (oleyl) tails. For those compounds saturated tails, efficiency a...
Recent molecular characterization studies have identified clinically relevant subtypes to coexist within the same histological entities of glioma. Comparative between serum-supplemented and serum-free (SF) culture conditions demonstrated that SF select for glioma stem-like cells, which superiorly conserve genomic alterations. However, neither representation assays nor distinctions successful nonsuccessful attempts been elucidated. A cohort 261 samples from varying grades was documented...
Abstract Background Patient-derived glioma stem-like cells (GSCs) have become the gold-standard in neuro-oncological research; however, it remains to be established whether loss of situ microenvironment affects clinically-predictive value this model. We implemented a GSC monolayer system investigate - vitro molecular correspondence and relationship between patient response temozolomide (TMZ). Methods DNA/RNA-sequencing was performed on 56 glioblastoma tissues 19 derived cultures. Sensitivity...
The molecular pathways involved in neovascularization of regenerating tissues and tumor angiogenesis resemble each other. However, the regulatory mechanisms under neoplastic circumstances are unbalanced leading to abnormal protein expression patterns resulting formation defective often abortive vessels. Because gliomas among most vascularized tumors, we compared profiles proliferating vessels glioblastoma with those which physiological takes place. By using a combination laser...
Background Chimeric Antigen Receptor (CAR) T-cell therapy has emerged as a revolutionary approach to cancer treatment. Given the rapid expansion of new indications addressed by newly developed CAR products, it is essential standardize analytical methods for characterization/monitoring apheresis materials, drug and post-infusion patient samples. Methods The T2Evolve Consortium, part European Union's Innovative Medicines Initiative (IMI), conducted an extensive anonymous online survey between...
Nascent embryonic joints, interzones, contain a distinct cohort of progenitor cells responsible for the formation majority articular tissues. However, to date interzone has largely been studied using in situ analysis candidate genes context embryo rather than an unbiased genome-wide expression on isolated cells, leaving significant controversy regarding exact role intermediate and outer layers joint formation. Therefore, this study, laser capture microdissection (three biological...
Electronic Health Record (EHR) systems are digital platforms in clinical practice used to collect patients' information related their health status and represents a useful storage of real-world data. EHRs have potential role research studies, particular, platform trials. Platform trials innovative trial designs including multiple arms (conducted simultaneously and/or sequentially) on different treatments under single master protocol. However, the use comes with important challenges such as...
Adopting universal data standards such as OMOP and SNOMED is crucial for ensuring the integrity, interoperability, utility of in global health research, setting foundation more effective studies.
Two types of spermine-based gemini surfactants have been synthesised; structure–activity studies shown one type to be far superior in gene transection than the other.
Abstract We describe a family that segregated an autosomal dominant form of craniosynostosis characterized by variable expression and limited extra‐cranial features. Linkage analysis genome sequencing were performed to identify the underlying genetic mutation. A c.443C>T missense mutation in MSX2 , which predicts p.Pro148Leu was identified with disease all affected members. One other (Boston type) has been reported have . These data confirm mutations altering proline at codon 148 cause...
Open and practical exchange, dissemination, reuse of specimens data have become a fundamental requirement for life sciences research. The quality the obtained thus findings knowledge derived is significantly influenced by samples, experimental methods, analysis. Therefore, comprehensive precise documentation pre-analytical conditions, analytical procedures, processing are essential to be able assess validity research results. With increasing importance reuse, sharing procedures required that...
As a conceptual model of disease mechanisms, map integrates available knowledge and is applied for data interpretation, predictions hypothesis generation. It possible to mechanisms on different levels granularity adjust the approach goals particular project. This rich environment together with requirements high-quality network reconstruction makes it challenging new curators groups be quickly introduced development methods. In this review, we offer step-by-step guide developing within its...