A5101398182- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Neuroscience and Neuropharmacology Research
- Retinal Imaging and Analysis
- RNA and protein synthesis mechanisms
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- interferon and immune responses
- Genetics and Neurodevelopmental Disorders
- Advanced biosensing and bioanalysis techniques
- Retinoids in leukemia and cellular processes
- Neurobiology and Insect Physiology Research
- Plant Pathogens and Fungal Diseases
- Plant Surface Properties and Treatments
- Plant and Fungal Interactions Research
- Nail Diseases and Treatments
- Asthma and respiratory diseases
- Early Childhood Education and Development
- Yeasts and Rust Fungi Studies
- Receptor Mechanisms and Signaling
- RNA regulation and disease
- Cerebrovascular and genetic disorders
- Nicotinic Acetylcholine Receptors Study
- Plant Reproductive Biology
- Dermatology and Skin Diseases
Praxis für Humangenetik Tübingen
2024
Bernstein Center for Computational Neuroscience Tübingen
2023
Helmholtz Zentrum München
2009-2021
German Center for Lung Research
2021
University of Regensburg
2009-2020
University of Würzburg
2000-2005
Département Génétique Animale
2004
Deutsche Gesellschaft für Holzforschung
1985-1991
Photoreceptor ribbon synapses release glutamate in response to graded changes membrane potential evoked by vast, logarithmically scalable light intensities. Neurotransmitter is modulated intracellular calcium levels. Large Ca 2+ -dependent chloride currents are important regulators of synaptic transmission from photoreceptors second-order neurons; the molecular basis underlying these unclear. We cloned human and mouse TMEM16B , a member TMEM16 family transmembrane proteins, show that it...
Purpose: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish mutational spectrum and to assess effects of selected deep intronic common genetic variants on disease, we performed a comprehensive sequence analysis large cohort German STGD1 patients. Methods: DNA samples 335 patients were analyzed for ABCA4 its 50 coding exons adjacent sequences resequencing array technology or...
Abstract Background Genome‐wide association studies (GWAS) have identified many risk loci for asthma, but effect sizes are small, and in most cases, the biological mechanisms unclear. Targeted metabolite quantification that provides information about a whole range of pathways intermediary metabolism can help to identify biomarkers investigate disease mechanisms. Combining genetic metabolic aid characterizing signals with high resolution. This work aimed interrelation current candidate asthma...
Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods. We aimed develop a cost-effective sequencing method for ABCA4 exons and regions carrying known causal deep-intronic variants. Methods Fifty 12 containing 14 variants of were sequenced using double-tiled single molecule Molecular Inversion Probe (smMIP)-based next-generation sequencing. DNAs 16 STGD1 cases 29 alleles four healthy...
Age-related macular degeneration (AMD) is the leading cause of blindness among white caucasians over age 50 years with a prevalence rate expected to increase markedly an anticipated in life span world population. To further expand our knowledge genetic architecture disease, we pursued candidate gene approach assessing 25 genes and total 109 variants. Of these, synonymous single nucleotide polymorphism (SNP) rs17810398 located death-associated protein-like 1 (DAPL1) was found be associated...
A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen cohort 106 BEST1/PRPH2-negative two encoding secreted interphotoreceptor matrix proteoglycans-1 and -2 (IMPG1 IMPG2). identified novel IMPG1 simplex cases disease onset their early childhood, heterozygous p.(Leu238Pro) missense mutation homozygous c.807 + 5G > splice site mutation. The latter...
Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the recessive bestrophinopathy (ARB), together known as bestrophinopathies, are caused by mutations in bestrophin-1 (BEST1) gene affecting anion transport through plasma membrane of retinal pigment epithelium (RPE). To date, while no treatment exists a better understanding BEST1-related pathogenesis may help to define therapeutic targets. Here, we systematically characterize functional...
Background The human skin offers diverse ecosystems for microbial symbionts. However, the factors shaping skin–microbiome interactions are still insufficiently characterized. This contrasts with broader knowledge about influencing gut microbiota. Objectives We aimed to investigate major patterns of association host traits, lifestyle and environmental bacteria in two German populations. Methods is a cross-sectional study 647 participants from population-based cohorts, PopGen (n = 294) KORA...
Age-related macular degeneration (AMD) is a multifactorial disorder affecting the visual system with high prevalence among elderly population but no effective therapy available at present. To better understand pathogenesis of this disorder, identification genetic factors and determination their contribution to AMD needed. Towards goal, we are pursuing strategy that makes use EST data processed in UniGene database aims generation comprehensive catalogue genes preferentially active human...
The non-imprinted in Prader-Willi/Angelman syndrome (NIPA) proteins are highly conserved receptors or transporters. Translocation of <i>NIPA</i> genes were found patients with Prader-Willi syndrome, and loss-of-function the <i>NIPA1</i> gene was identified hereditary spastic paraplegia. family NIPA-like domain containing (NPAL) is closely related to NIPA proteins, but date nothing known about their function. Here, we could demonstrate that both human <i>NPAL3...
Retina and retinal pigment epithelium (RPE) cells are of neuroectodermal origin with highly specialized functions in light perception. Identification characterization genes differentially expressed these will greatly aid our understanding their functional roles biology. As a source enriched for gene transcripts from the retina/RPE, we generated human retina bovine RPE cDNA library applying PCR-based technique suppression subtractive hybridization (SSH). Sequencing 1,080 2,350 SSH clones...
ABSTRACT The Houge type of X‐linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum neurodevelopmental disorders characterized by disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2 , gene located at Xp22.12. CNKSR2, also known as CNK2 MAGUIN, functions synaptic scaffolding molecule within the neuronal postsynaptic density (PSD)...