A5102773198- RNA Research and Splicing
- MicroRNA in disease regulation
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Genetics and Neurodevelopmental Disorders
- Stress Responses and Cortisol
- Genomics and Rare Diseases
- Tryptophan and brain disorders
- RNA and protein synthesis mechanisms
- Cancer, Hypoxia, and Metabolism
- Cancer Genomics and Diagnostics
- Neonatal Respiratory Health Research
- Microtubule and mitosis dynamics
- Pluripotent Stem Cells Research
- Genetic Associations and Epidemiology
- Pregnancy and preeclampsia studies
- Epigenetics and DNA Methylation
- Ubiquitin and proteasome pathways
- Congenital heart defects research
- Genomics and Chromatin Dynamics
- Circular RNAs in diseases
- Retinal Development and Disorders
- Birth, Development, and Health
- Blood groups and transfusion
- Genomic variations and chromosomal abnormalities
Johannes Gutenberg University Mainz
2015-2025
University Medical Center of the Johannes Gutenberg University Mainz
2013-2024
Pace University
2024
Leibniz Institute for Resilience Research
2020-2023
Focus (Germany)
2016-2021
University Medical Center
2020-2021
Institute of Human Genetics
2020
University of Toronto
2000-2019
Princess Margaret Cancer Centre
2019
University Health Network
2019
During early pregnancy, placentation occurs in a relatively hypoxic environment that is essential for appropriate embryonic development. Intervillous blood flow increases around 10 to 12 weeks of gestation and results exposure trophoblast cells increased oxygen tension. Before this time, low appears prevent differentiation toward an invasive phenotype. Using human villous explants 5–8 weeks’ gestation, we found tension triggered proliferation, fibronectin synthesis, α5 integrin expression,...
Common variation in the gene encoding neuron-specific RNA splicing factor Binding Fox-1 Homolog 1 (RBFOX1) has been identified as a risk for several psychiatric conditions, and rare genetic variants have found causal autism spectrum disorder (ASD). Here, we explored landscape of RBFOX1 more deeply, integrating evidence from existing new human studies well Rbfox1 knockout mice. Mining data large-scale common variants, confirmed gene-based genome-wide association with tolerance, major...
The human placenta is a unique organ in terms of oxygenation as it undergoes transition from low to more oxygenated environment. This physiological switch oxygen tension prerequisite for proper placental development and involves the hypoxia inducible factor (HIF). HIF stable initiates gene transcription under hypoxia, whereas normoxia, interaction with von Hippel-Lindau tumor suppressor protein (VHL) leads rapid degradation HIF1A subunit. requires formation multiprotein complex (VHLCBC)...
In response to traumatic brain injury (TBI) microglia/macrophages and astrocytes release inflammatory mediators with dual effects on secondary damage progression. The neurotrophic anti-inflammatory glycoprotein progranulin (PGRN) attenuates neuronal microglia/macrophage activation in but mechanisms are still elusive. Here, we studied histopathology, neurology gene expression of markers PGRN-deficient mice (Grn−/−) 24 h 5 days after experimental TBI. Grn−/− displayed increased perilesional...
Purpose Loneliness screening is recommended as best practice in primary care for older adults, yet it not widely implemented. The purpose of the current study was to assess feasibility a loneliness and referral program (SOCIAL Rx) practice. Method assessed using 3-item UCLA Scale curated referrals were provided those who screened positive. Outcome measures organized RE-AIM framework domains reach, effectiveness, adoption. Qualitative interviews conducted explore feasibility/acceptability...
Cortical neurogenesis depends on the balance between self-renewal and differentiation of apical progenitors (APs). Here, we study epigenetic control AP's division mode by focusing enzymatic activity histone methyltransferase DOT1L. Combining lineage tracing with single-cell RNA sequencing clonally related cells, show at cellular level that DOT1L inhibition increases driven a shift APs from asymmetric self-renewing to symmetric neurogenic consumptive divisions. At molecular level, prevents AP...
Abstract Chronic stress has become a predominant factor associated with variety of psychiatric disorders, such as depression and anxiety, in both human animal models. Although multiple studies have looked at transcriptional changes after social defeat stress, these primarily focus on bulk tissues, which might dilute important molecular signatures interaction activated cells. In this study, we employed the Arc-GFP mouse model conjunction chronic (CSD) to selectively isolate nuclei (AN)...
Hintergrund: Mitochondriale Kardiomyopathien beruhen auf einem muskulären Energiemangel, der durch Atmungskettendefekte verursacht ist. Ursächliche Veränderungen können sowohl in nukleären als auch mitochondrialen Genen zu finden sein. Das nukleär kodierte MALSU1 Protein spielt eine Rolle bei Bildung und Aufrechterhaltung großen Untereinheit mitochondrialer Ribosomen, die für Proteinbiosynthese verantwortlich sind.
Opitz BBB/G syndrome (OS) is a heterogenous malformation mainly characterised by hypertelorism and hypospadias. In addition, patients may present with several other defects of the ventral midline such as cleft lip palate congenital heart defects. The syndrome-causing gene encodes X-linked E3 ubiquitin ligase MID1 that mediates ubiquitin-specific modification degradation catalytic subunit translation regulator protein phosphatase 2A (PP2A). Here, we show also associates elongation factor 1α...
The hippocampal cell line HT22 is an excellent model for studying the consequences of endogenous oxidative stress. Extracellular glutamate depletes cellular glutathione by blocking glutamate/cystine antiporter system xc-. Glutathione depletion induces a well-defined programme death characterized increase in reactive oxygen species and mitochondrial dysfunction.We compared shape, abundance complexes respiration cells, selected based on their resistance to glutamate, with those...
Abstract Opitz syndrome (OS; MIM 145410 and 300000) is a congenital midline malformation characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, cardiac defects. The X‐linked form (XLOS) caused mutations in the MID1 gene, which encodes microtubule‐associated RBCC protein. In this study, phenotypic manifestations of patients with without were compared to determine genotype‐phenotype correlations. We...
Eph receptors are the largest family of receptor tyrosine kinases. Together with their ligands, ephrins, they fulfill multiple biological functions. Aberrant expression Ephs/ephrins leading to increased ephrin ligand ratios is a critical factor in tumorigenesis, indicating that tight regulation and essential for normal cell behavior. The 3'-untranslated regions (3'UTRs) transcripts play an important yet widely underappreciated role control protein expression. Based on assumption paralogues...
MicroRNAs of the miR-302 cluster are involved in early embryonic development and somatic cell reprogramming. Expression gene is regulated by binding pluripotency factors Oct4, Sox2 Nanog to promoter. The specific expression pattern suggested that additional transcription might be its regulation. Here, we show promoter a direct target Wnt/β-catenin signaling pathway. We found contains three different functional Tcf/Lef sites. Two sites were located within Oct4/Sox2/Nanog essential for...
Abstract Mutations in the actively expressed, maternal allele of imprinted KCNK9 gene cause Birk-Barel intellectual disability syndrome (BBIDS). Using a BBIDS mouse model, we identify here partial rescue BBIDS-like behavioral and neuronal phenotypes mediated via residual expression from paternal Kcnk9 ( pat ) allele. We further demonstrate that second-generation HDAC inhibitor CI-994 induces enhanced paternally silenced leads to full phenotype suggesting as promising molecule for therapy....
The MID1 ubiquitin ligase activates mTOR signaling and regulates mRNA translation. Misregulation of expression is associated with various diseases including midline malformation syndromes, cancer neurodegenerative diseases. While this indicates that must be tightly regulated to prevent disease states specific mechanisms involved have not been identified. We examined miRNAs determine regulate expression. MicroRNAs (miRNA) are small non-coding RNAs recognize sequences in their target mRNAs....
Increasing numbers of studies seek to characterize the different cellular sub-populations present in mammalian tissues. The techniques "Isolation Nuclei Tagged Specific Cell Types" (INTACT) or "Fluorescence-Activated Sorting" (FANS) are frequently used for isolating nuclei specific subtypes. These then molecular characterization sub-populations. Despite increasing popularity both techniques, little is known about their isolation efficiency, advantages, and disadvantages downstream effects....