A5014005532- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Genetics and Neurodevelopmental Disorders
- Avian ecology and behavior
- Chromosomal and Genetic Variations
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Carcinogens and Genotoxicity Assessment
- Prenatal Screening and Diagnostics
- Telomeres, Telomerase, and Senescence
- Animal Behavior and Reproduction
- Nuclear Structure and Function
- Mitochondrial Function and Pathology
- Marine and fisheries research
- DNA and Nucleic Acid Chemistry
- Cancer therapeutics and mechanisms
- Drug Transport and Resistance Mechanisms
- Sulfur Compounds in Biology
- Ecology and Vegetation Dynamics Studies
- RNA regulation and disease
- Environmental Conservation and Management
- Advanced biosensing and bioanalysis techniques
- Wildlife Ecology and Conservation
University of Würzburg
1997-2024
Bureau Waardenburg (Netherlands)
2010-2024
Wageningen University & Research
2024
Centrum voor Landbouw en Milieu
2022-2023
Centraal Bureau voor de Statistiek
2016-2019
University Medical Center Utrecht
2007-2016
Royal Netherlands Institute for Sea Research
1998-2014
Utrecht University
2005-2013
University of Oxford
2013
Ghent University Hospital
2011
Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances technologies detect these changes allow for routine identification of submicroscopic imbalances large numbers patients.
A fluorescent nucleic acid stain that does not penetrate living cells was used to assess the integrity of plasma membranes bacteria. SYTOX Green is an unsymmetrical cyanine dye with three positive charges completely excluded from live eukaryotic and prokaryotic cells. Binding acids resulted in a > 500-fold enhancement fluorescence emission (absorption maxima at 502 523 nm, respectively), rendering bacteria compromised brightly green fluorescent. readily excited by 488-nm line argon ion...
Investigation of mitochondrial morphology and function has been hampered because photostable, mitochondrion-specific stains that are retained in fixed, permeabilized cells have not available. We found live cell preparations, the CMXRos H2-CMXRos dyes were more photostable than rhodamine 123. In addition, fluorescence mitochondria stained with CMXRos-H2 preserved even after formaldehyde fixation acetone permeabilization. Using epifluorescence microscopy, we showed dye fully co-localized...
Abstract Background Chloromethyl‐X‐rosamine (CMXRos) and MitoTracker Green (MTG) have proved to be useful dyes with which measure mitochondrial function. CMXRos is a lipophilic cationic fluorescent dye that concentrated inside mitochondria by their negative membrane potential (MMP). MTG fluorescence has been used as of mass independent MMP. The ratio the two relative MMP mass. Because was recently reported sensitive MMP, we reevaluated effects loss on fluorescence, using both flow cytometry...
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental with complex inheritance pattern. While many rare variants in synaptic proteins have been identified patients ASD, little is known about their effects at the synapse and interactions other genetic variations. Here, following discovery two de novo SHANK2 deletions by Genome Project, we novel 421 kb deletion patient autism. We then sequenced 455 ASD 431 controls integrated these results those reported Berkel et al....
A variety of mutational mechanisms shape the dynamic architecture human genomes and occasionally result in congenital defects disease. Here, we used genome-wide long mate-pair sequencing to systematically screen for inherited de novo structural variation a trio including child with severe abnormalities. We identified 4321 variants 17 rearrangements. characterized changes base-pair level revealing complex series balanced inter- intra-chromosomal rearrangements consisting 12 breakpoints...
The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis the (WS) for past decade. present communication summarizes, from among 99 WS subjects, spectrum 50 distinct mutations discovered by our group and others since WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 these have not previously published. All reported thus far resulted elimination nuclear localization signal at C-terminus protein, precluding functional...
In combination with other factors, hyperglycemia may cause the accelerated progression of atherosclerosis in people diabetes. Arterial smooth muscle cell (SMC) proliferation and accumulation contribute to formation advanced atherosclerotic lesions. Therefore, we investigated effects on SMC vivo isolated arteries SMCs by taking advantage a new porcine model diabetes-accelerated atherosclerosis, which diabetic animals are hyperglycemic without receiving exogenous insulin. We show that fed...
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze genomes ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements more than two breakpoints. The displayed unanticipated complexity resembling chromothripsis. We find that eight them contain hallmarks multiple clustered double-stranded DNA breaks (DSBs) on one or chromosomes. In addition, nucleotide resolution analysis 98...
The recent identification of copy-number variation in the human genome has opened up new avenues for discovery positional candidate genes underlying complex genetic disorders, especially field psychiatric disease. One major challenge that remains is pinpointing susceptibility multitude disease-associated loci. This may be tackled by reconstruction functional gene-networks from residing these We applied this approach to autism spectrum disorder (ASD), and identified changes DNA 105 ASD...
Water depth requirements, diet, feeding styles and diurnal activity patterns are described for waterbirds using two brackish water lagoon systems in coastal Ghana, the Songor Keta Lagoons. We project habitat data on a guild structure defined basis of individual style sensory mechanism used to detect food. A total 3199 flocks containing 118,648 individuals 36 different waterbird species were examined during October‐November 1994. Feeding habitats varied from dry mudflats wet mud shallow not...
Abstract To study the putative role of de novo synthesis glutathione (GSH) in regulation cell cycle, we exposed NIH‐3T3 cells to buthionine sulfoximine (BSO) and analysed cycle kinetics with continuous bromodeoxyuridine (BrdU) labeling bivariate Hoechst 33258/ethidium bromide flow cytometry. Treating quiescent cells, which themselves had a low GSH content, BSO did not affect subsequent entry into progression through cycle. Adding during serum stimulation, however, provoked dose‐dependent...
SPECIFIC AIMSTo define the type of chromatin lesion(s) that require Werner syndrome (WRN) helicase/exonuclease activity to prevent cytotoxicity and S phase prolongation/arrest, we exposed lymph...
High resolution genomic copy-number analysis has shown that inherited and de novo variations contribute significantly to autism pathology, identification of small chromosomal aberrations related will expedite the discovery risk genes involved. Here, we report a microduplication chromosome 15q11.2, spanning only four genes, co-segregating with in Dutch pedigree, identified by SNP microarray analysis, independently confirmed FISH MLPA analysis. Quantitative RT-PCR revealed over 70% increase...