A5088065799- Genomics and Chromatin Dynamics
- Acute Myeloid Leukemia Research
- Epigenetics and DNA Methylation
- Cancer-related molecular mechanisms research
- Zebrafish Biomedical Research Applications
- RNA Research and Splicing
- Cancer-related gene regulation
- Atherosclerosis and Cardiovascular Diseases
- Nuclear Receptors and Signaling
- RNA regulation and disease
- Chromosomal and Genetic Variations
- Systemic Lupus Erythematosus Research
- Diagnosis and Treatment of Venous Diseases
- Electrospun Nanofibers in Biomedical Applications
- 3D Printing in Biomedical Research
- Drug-Induced Ocular Toxicity
- Genetic Associations and Epidemiology
- Viral Infections and Vectors
- Adipokines, Inflammation, and Metabolic Diseases
- Genomic variations and chromosomal abnormalities
- Entomological Studies and Ecology
- Microtubule and mitosis dynamics
- Infectious Diseases and Tuberculosis
- Tissue Engineering and Regenerative Medicine
- Hematological disorders and diagnostics
University Medical Center Utrecht
2021-2025
Utrecht University
2025
University of Otago
2012-2020
Maurice Wilkins Centre
2019
University of Auckland
2019
Hypothermic oxygenated perfusion (HOPE) is a promising method for donor heart preservation, but the hypothermic conditions reduce metabolic activity, making cardiac evaluation challenging, and necessitating prognostic biomarkers to monitor graft quality. This study aims identify during HOPE that predict function. Seven porcine slaughterhouse hearts underwent 4 hours of followed by normothermic machine (NMP) with continuous functional assessment, including measurements output (CO), index...
Genetic variation in the genomic regulatory landscape likely plays a crucial role pathology of disease. Non-coding variants associated with disease can influence expression long intergenic non-coding RNAs (lincRNAs), which turn function control protein-coding gene expression. Here, we investigate two independent serum urate-associated signals (SUA1 and SUA2) close proximity to lincRNAs an enhancer that reside ~60 kb ~300 upstream MAF, respectively. Variants within SUA1 are quantitative trait...
Abstract Cyclin-dependent kinase 1 (Cdk1) is absolutely essential for cell division. Complete ablation of Cdk1 precludes the entry G2 phase cells into mitosis and early embryonic lethal in mice. Dampening activation, by reducing gene expression or upon treatment with cell-permeable inhibitors, also detrimental proliferating cells, but has been associated defects mitotic progression formation aneuploid daughter cells. Here, we used a large-scale RNAi screen to identify human genes that...
Abdominal aortic aneurysm (AAA) is a major cause of sudden death in the elderly. While AAA has some overlapping genetic and environmental risk factors with atherosclerosis, there are substantial differences, AAA-specific medication lacking. A recent meta-analysis genome-wide association studies identified four novel single-nucleotide polymorphisms (SNPs) specifically associated AAA. Here, we investigated gene regulatory function for one non-coding SNPs AAA, rs2836411, which located an intron...
Changes in whole blood DNA methylation levels at several CpG sites have been associated with circulating lipids, specifically high-density lipoprotein and triglycerides. This study performs a discovery validation epigenome-wide association (EWAS) for lipoprotein(a) [Lp(a)], an independent risk factor cardiovascular diseases. Whole-blood profiles were assessed cohort of 1020 elderly individuals using the Illumina EPIC array 359 males 450 k array. Plasma Lp(a) was measured...
Abstract Recent reports have suggested a reproducible association between the rs11121615 SNP, located within an intron of castor zinc finger 1 ( CASZ1) gene, and varicose veins. This study aimed to determine if this variant is also differentially associated with various clinical classifications chronic venous disease (CVD). The SNP was genotyped in two independent cohorts from New Zealand (n = 1876 controls /1606 CVD cases) Netherlands 1626/2966). Participants were clinically assessed using...
In cardiac fibrosis, in response to stress or injury, fibroblasts deposit excessive amounts of collagens which contribute the development heart failure. The biochemical stimuli this process have been extensively studied, but influence cyclic deformation on fibrogenic behavior ever-beating is not fully understood. fact, most investigated mechanotransduction pathways seem ultimately profibrotic effects, leaves an important question fibrosis research unanswered: how do stay quiescent human...
The transcription factor Runx1 is essential for definitive haematopoiesis, and the RUNX1 gene frequently translocated or mutated in leukaemia. transcribed from two promoters, P1 P2, to give rise different protein isoforms. Although expression of must be tightly regulated normal blood development, mechanisms that regulate isoform during haematopoiesis remain poorly understood. Gene regulatory elements located non-coding DNA are likely important transcription. Here we use circular chromosome...
The RUNX1/AML1 gene encodes a developmental transcription factor that is an important regulator of haematopoiesis in vertebrates. Genetic disruptions to the RUNX1 are frequently associated with acute myeloid leukaemia. Gene regulatory elements (REs), such as enhancers located non-coding DNA, likely be for Runx1 transcription. Non-coding modulate expression have been investigated over several decades, but how and when these REs function remains poorly understood. Here we used bioinformatic...
Abstract Funding Acknowledgements Type of funding sources: Foundation. Main source(s): The Dutch Heart foundation Recent transcriptomic-based clustering human atherosclerotic plaques revealed that have a diversity and complexity cannot be accurately described by classical concepts. Previous plaque RNA sequencing we performed in 654 lesions identified five major types reflect different mechanisms progression disease. These include the following subtypes: 0. Fibro-collagenous, 1. Intermediate,...
Abstract Single nucleotide polymorphisms within the genomic region immediately upstream of ESR1, a gene on 6q25.1 encoding estrogen receptor α (ER), have been found to be associated with increased risk breast cancer1,2. Three genes this region, CCDC170, RMND1 and ARMT1 are co-expressed ESR1 in ER+ve cancers CCDC170 expression is inversely proliferation recurrence free survival tamoxifen-treated patient cohort3. In addition, fusions between aggressive endocrine-resistant luminal B tumours4....
Abstract Background Recent transcriptomic-based clustering of human atherosclerotic plaques revealed that have a diversity and complexity cannot be accurately described by classical concepts. Previous plaque RNA sequencing we performed identified five major types reflect the severity disease. These include following subtypes: 0. Fibro-collagenous, 1. Intermediate, 2. Lipo-necrotic, 3. Fibro-inflammatory, 4. Fibro-cellular. We hypothesised identifying these different could explain...
Abstract The transcription factor Runx1 is essential for definitive hematopoiesis, and the RUNX1 gene frequently translocated or mutated in leukemia. transcribed from two promoters, P1 P2, to give rise different protein isoforms. Although expression of must be tightly regulated normal blood development, mechanisms that regulate isoform during hematopoiesis remain poorly understood. Gene regulatory elements located non-coding DNA are likely important transcription. Here we use circular...