A5036238142- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Insect Resistance and Genetics
- Neurobiology and Insect Physiology Research
- RNA and protein synthesis mechanisms
- Viral Infectious Diseases and Gene Expression in Insects
- Cannabis and Cannabinoid Research
- Congenital heart defects research
- Genomics and Rare Diseases
- Protein Degradation and Inhibitors
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- Polyamine Metabolism and Applications
- Insect Pest Control Strategies
- Autophagy in Disease and Therapy
- Cancer-related gene regulation
- Chromatin Remodeling and Cancer
- Viral Infections and Immunology Research
Radboud University Nijmegen
2011-2021
Radboud University Medical Center
2011-2021
University Medical Center
2017-2021
Radboud Institute for Molecular Life Sciences
2011-2017
Netherlands Institute for Neuroscience
2017
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, KMT2C), single individuals with characteristics overlapping syndrome. Here, we present a novel cohort five patients loss function...
Many insights into the molecular mechanisms underlying learning and memory have been elucidated through use of simple behavioral assays in model organisms such as fruit fly, Drosophila melanogaster. is useful for understanding basic neurobiology cognitive deficits resulting from mutations genes associated with human disorders, intellectual disability (ID) autism. This work describes a methodology testing using classic paradigm known courtship conditioning. Male flies court females distinct...
Abstract Kabuki syndrome (KS) is a rare multisystem disorder, characterized by intellectual disability, growth delay, and distinctive craniofacial features. It mostly caused de novo mutations of KMT2D , which responsible for histone H3lysine 4 mono-methylation (H3K4me1) that marks active poised enhancers. We assessed the impact on chromatin transcriptional regulation in cohort multiple KS1 tissues, including primary patient samples disease-relevant lineages, namely cortical neurons (iN),...
The aminoacyl-tRNA synthetases are ubiquitously expressed enzymes that catalyze the esterification of amino acids to their cognate tRNAs. Autoantibodies against several found in autoimmune polymyositis and dermatomyositis patients. Because necrosis is often skeletal muscle biopsies these patients, we hypothesized cell-death-induced protein modifications may help breaking immunological tolerance. Since cell death associated with oxidative stress, effect stress on main myositis-specific...
Many insights into the molecular mechanisms underlying learning and memory have been elucidated through use of simple behavioral assays in model organisms such as fruit fly, Drosophila melanogaster. is useful for understanding basic neurobiology cognitive deficits resulting from mutations genes associated with human disorders, intellectual disability (ID) autism. This work describes a methodology testing using classic paradigm known courtship conditioning. Male flies court females distinct...