A5044579579- Protist diversity and phylogeny
- Environmental DNA in Biodiversity Studies
- Microbial Community Ecology and Physiology
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
- Clinical practice guidelines implementation
- Plant Pathogens and Fungal Diseases
- Genetic factors in colorectal cancer
- Plant Pathogens and Resistance
- Health Systems, Economic Evaluations, Quality of Life
- Mycorrhizal Fungi and Plant Interactions
- Infectious Diseases and Mycology
- Antimicrobial Peptides and Activities
- Cancer-related molecular mechanisms research
- Lepidoptera: Biology and Taxonomy
- Neurobiology and Insect Physiology Research
- RNA modifications and cancer
- Translation Studies and Practices
- Genetic diversity and population structure
- Diptera species taxonomy and behavior
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Genomics and Phylogenetic Studies
Leipzig University
2017-2025
University Medical Center
2024
University Hospital Leipzig
2022-2024
Abstract N-methyl- d -aspartate receptors (NMDARs) are members of the glutamate receptor family and participate in excitatory postsynaptic transmission throughout central nervous system. Genetic variants GRIN genes encoding NMDAR subunits associated with a spectrum neurological disorders. The M3 transmembrane helices couple directly to agonist-binding domains form helical bundle crossing closed that occludes pore. functions as transduction element whose conformational change couples ligand...
Background: PTEN hamartoma tumor syndrome (PHTS) has evolved into an umbrella term for a range of syndromes, characterized by loss-of-function variants in the phosphatase and tensin homolog (PTEN) suppressor gene on chromosome 10q23.31. This can result lifelong predisposition patients. Often, is diagnosed early childhood because macrocephaly, dermatological findings, or development delay. Since correlation between phenotype genotype weak, penetrance age-dependent, this poses question...
Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome. describe features, electroencephalography, magnetic resonance imaging (MRI) findings, antiseizure treatment response, neurodevelopment 15 biallelic variants. All...
We report the first integrated proteomic and transcriptomic investigation of a crustacean venom. Remipede crustaceans are venomous sister group hexapods, venom glands remipede Xibalbanus tulumensis express considerably more complex cocktail proteins peptides than previously thought. identified 32 protein families, including 13 novel peptide families that we name xibalbins, four which lack similarities to any known structural class. Our data confirm presence in 19 families. The most highly...
Abstract GRID1 and GRID2 encode the enigmatic GluD1 GluD2 proteins, which form tetrameric receptors that play important roles in synapse organization development of central nervous system. Variation these genes has been implicated neurodevelopmental phenotypes. We evaluated human variants from literature, ClinVar, clinical laboratories found many reside intolerant domains, including amino terminal domain both GRID2. Other conserved regions, such as M3 transmembrane domain, show different...
Abstract Purpose With exome sequencing now standard, diagnostic labs are in need of a, principle, to-the-day-accurate list genes associated with rare diseases. Manual curation efforts slow and often disease specific, while relying on single sources too inaccurate may result false-positive or false-negative genes. Methods We established the MorbidGenes panel based a publicly available databases: OMIM, PanelApp, SysNDD, ClinVar, HGMD GenCC. A simple logic allows inclusion that supported by at...
Tree canopies are colonized by billions of highly specialized microorganisms that well adapted to the variable microclimatic conditions, caused diurnal fluctuations and seasonal changes. In this study, we investigated seasonality patterns protists in tree a temperate floodplain forest via high-throughput sequencing with group-specific primers for phyla Cercozoa Endomyxa. We observed consistent seasonality, identified divergent spring autumn taxa. crowns were characterized dominance...
Tree canopies provide habitats for diverse and until now, still poorly characterized communities of microbial eukaryotes. One the most general patterns in community ecology is increase species richness with increasing habitat diversity. Thus, environmental heterogeneity tree should be an important factor governing structure diversity this subsystem forest ecosystems. Nevertheless, it unknown if similar are reflected at scale within unicellular eukaryotes (protists). In study, high-throughput...
Routine diagnostics is biased towards genes and variants with satisfactory evidence, but rare disorders only little confirmation of their pathogenicity might be missed. Many these can, however, considered relevant, although they may have less evidence because lack OMIM entries or comprise a small number publicly available from one few studies. Here, we present 89 individuals harbouring in 77 for which amount public on clinical significance still found to relevant enough reported routine...
Cercozoa and Oomycota contain a huge biodiversity important pathogens of forest trees other vegetation. We analyzed air dispersal these protistan phyla with an sampler near-ground (~2 m) in tree crowns (~25 three species (oak, linden ash) temperate floodplain March (before leafing) May (after leaf unfolding) 2019 cultivation-independent high-throughput metabarcoding approach. found high diversity samples 122 81 OTUs, respectively. Especially oomycetes showed significant difference community...
Oomycetes (Stramenopiles, protists) are among the most severe plant pathogens, comprising species with a high economic and ecologic impact on forest ecosystems. Their diversity community structures well studied in terrestrial habitats, but tree canopies as huge diverse habitats have been widely neglected. A recent study highlighted distinct oomycete communities canopy stratum compared to ground region of three temperate deciduous trees ( Quercus robur, Tilia cordata, Fraxinus excelsior )....
Abstract Earthworms are considered ecosystem engineers due to their fundamental impact on soil structure, processes and other biota. An invasion of non-native earthworm species has altered soils North America since European settlement, a process currently expanding into still earthworm-free forest ecosystems continuous spread increasing temperatures owing climate change. Although earthworms known modify microbial diversity activity, it is as yet unclear how eukaryote consumers in food webs...
Introduction: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive disease with homozygous or compound-heterozygous mutation in the SLC19A2 gene characterized by anemia, diabetes mellitus (DM), and sensorineural hearing loss onset childhood. Folic acid vitamin B12 serum are normal dysplastic erythropoiesis bone marrow often mimicking myelodysplastic neoplasms (MDS) as potential differential diagnosis. Thiamine substitution leads to normalization of without...
Abstract Purpose: With exome sequencing now standard, diagnostic labs are in need of a, principle, to-the-day-accurate list genes associated with rare diseases. Manual curation efforts slow and often disease specific, while relying on single sources too inaccurate may result false-positive or false-negative genes. Methods: We established the MorbidGenes panel based a publicly available databases: OMIM, PanelApp, SysNDD, ClinVar, HGMD GenCC. A simple logic allows inclusion that supported by...
Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases described small or general studies. The aim of our work was to consolidate understanding NTRK2-related disorders and delineate the clinical presentation METHODS: We report extended cohort 44 affected individuals, whom 19 are from literature 25 were previously unreported.
Abstract We analyzed air dispersal of the protistan phyla Cercozoa and Oomycota with an sampler near ground (~2 m) in tree crowns (~25 three species (oak, linden ash) a temperate floodplain forest March (before leafing) May (after leaf unfolding) cultivation-independent high throughput metabarcoding approach. Both, Oomycota, contain important pathogens trees other vegetation. found diversity samples 122 81 OTUs, respectively. Especially oomycetes showed temporal variation beta between both...
Abstract Tree canopies are colonized by billions of highly specialized microorganisms that well adapted to the extreme microclimatic conditions, caused diurnal fluctuations and seasonal changes. In this study we investigated seasonality patterns protists in tree a temperate floodplain forest via high-throughput sequencing with group-specific primers for phyla Cercozoa Endomyxa. We observed consistent identified divergent spring autumn taxa. crowns were characterized dominance bacterivores...
In order to elucidate mitochondrial evolution and resolve the phylogeny of widely distributed European green lizards (Lacerta viridis complex), we determined 16 genomes from a representative sampling four previously identified major clades corresponding L. bilineata (western distribution range), (most eastern unnamed Adriatic (or West Balkan) Turkish + south-eastern clades. The mitogenomes were on average 17,162 bp long with canonical vertebrate gene inventory 13 protein-coding genes, 22...
Abstract Oomycetes (Stramenopiles, Protista) are among the most severe plant pathogens, comprising species with a high economic and ecologic impact on forest ecosystems. Their diversity community structures well studied in terrestrial habitats, but tree canopies as huge diverse habitats have been widely neglected. A recent study highlighted distinct oomycete communities canopy region compared to soils when taking abundances into account, contrast homogeneity at incidence level. It remains...
The complete mitochondrial genome of Dasypogon diadema (Insecta: Diptera) was sequenced using the Illumina MiSeq` platform. Its mt-genome spans over 16,947 bp with a GC content 26.6% containing 13 protein-coding genes, 22 tRNA and 2 rRNA genes. phylogenetic relationship 11 other dipteran species reconstructed position confirmed.