A5043795252- Retinal Development and Disorders
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Retinal Diseases and Treatments
- Sexual Differentiation and Disorders
- Carcinogens and Genotoxicity Assessment
- Congenital Anomalies and Fetal Surgery
- Photoreceptor and optogenetics research
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Urological Disorders and Treatments
- Virus-based gene therapy research
- Retinal and Macular Surgery
- Retinal Imaging and Analysis
- Pediatric Urology and Nephrology Studies
- Cellular transport and secretion
- Liver Disease Diagnosis and Treatment
- DNA and Nucleic Acid Chemistry
- Cancer therapeutics and mechanisms
- Metabolism and Genetic Disorders
- DNA Repair Mechanisms
- Diet, Metabolism, and Disease
- Genomics and Rare Diseases
University of Regensburg
2011-2022
Universitätsklinikum Würzburg
2019
Klinik Schillerhöhe
2011
Freie Universität Berlin
2006
Helios Klinikum Erfurt
2000-2006
Aarhus University
1978-2005
Schön Klinik Roseneck
2004
Charité - Universitätsmedizin Berlin
2004
University of Würzburg
1986-2000
Justus-Liebig-Universität Gießen
1997
Patient prognosis in lung cancer largely depends on early diagnosis. The exhaled breath of patients may represent the ideal specimen for future screening. However, clinical applicability current diagnostic sensor technologies based signal pattern analysis remains incalculable due to their inability identify a clear target. To test robustness presence so far unknown volatile organic compound with cancer, sniffer dogs were applied. Exhalation samples 220 volunteers (healthy individuals,...
Electroinjection of membrane-impermeable xenomolecules into freely suspended mammalian cells (so-called electroporation) and cell-to-cell electrofusion are powerful tools for manipulation the genom cytosol cells. Both field pulse techniques based on temporary increase membrane permeability due to reversible electrical breakdown plasma upon application external high-intensity pulses very short duration. Membrane charging permabilization caused by preceded accompanied transient...
The effects of mutagens on three genetic markers--resistance to ouabain, 6-thioguanine, and dibutyryl cyclic AMP (Bt2cAMP), were investigated in a mouse lymphoma cell line, S49. Nitrosoguanidine, ethyl methanesulfonate, ICR 191, x-rays used. Mutagen-specific responses seen. Ouabain resistance was induced by nitrosoguanidine, but not 191. 191 6-thioguanine more efficiently than did nitrosoguanidine; the converse true Bt2cAMP. relative frequency biochemically distinguishable subtypes mutants...
Fifteen variants in 10q26 are strong linkage disequilibrium and associated with an increased risk for age-related macular degeneration (AMD), a frequent cause of blindness developed countries. These tag single-risk haplotype encompassing the genes ARMS2 (age-related maculopathy susceptibility 2) part HTRA1 (HtrA serine peptidase 1). To define true AMD gene 10q26, several studies have focused on influence alleles expression and/or HTRA1, but results been inconsistent. By heterologous genomic...
In a chromosome study on leucocyte cultures made in 13 patients treated with chlorpromazine, 15 perphenazine, and nine lysergide, significantly higher frequency of gaps, breaks, hypodiploid cells the perphenazine lysergide occurred compared 41 controls studied. It is concluded that if some drugs can induce major abnormalities, less toxic alternatives are available, latter should be used preference.
High-temperature requirement A1 (HTRA1) is a secreted serine protease reported to play role in the development of several cancers and neurodegenerative diseases. Still, mechanism underlying disease processes largely remains undetermined. In age-related macular degeneration (AMD), common cause vision impairment blindness industrialized societies, two synonymous polymorphisms (rs1049331:C>T, rs2293870:G>T) exon 1 HTRA1 gene were associated with high risk develop disease. Here, we show that...
Mutations in the RS1 gene that encodes discoidin domain containing retinoschisin cause X-linked juvenile retinoschisis (XLRS), a common macular degeneration males. Disorganization of retinal layers and electroretinogram abnormalities are hallmarks disease also found mice deficient for orthologous murine protein, indicating is important maintenance cell integrity. Upon secretion, associates with plasma membranes photoreceptor bipolar cells, although components by which protein linked to vivo...
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...
Vitronectin, a cell adhesion and spreading factor, is suspected to play role in the pathogenesis of age-related macular degeneration (AMD), as it major component AMD-specific extracellular deposits (e.g., soft drusen, subretinal drusenoid deposits). The present study addressed impact AMD-associated non-synonymous variant rs704 vitronectin-encoding gene VTN on vitronectin functionality.Effects expression processing were analyzed by semi-quantitative sequencing transcripts from retinal pigment...
Mutations in the RS1 gene cause X-linked juvenile retinoschisis (XLRS), a hereditary retinal dystrophy. We recently showed that retinoschisin, protein encoded by RS1, regulates ERK signaling and apoptosis cells. In this study, we explored an influence of retinoschisin on functionality Na/K-ATPase, its interaction partner at plasma membranes. show binding requires β2-subunit whereas α-subunit is exchangeable. Our investigations revealed no effect Na/K-ATPase-mediated ATP hydrolysis ion...
Abstract X‐linked juvenile retinoschisis ( XLRS ) is a hereditary retinal dystrophy in young males, caused by mutations the RS 1 gene. The function of encoded protein, termed retinoschisin, and molecular mechanisms underlying pathogenesis are still unresolved, although direct interaction partner secreted Na/K‐ ATP ase, was recently identified. Earlier gene expression studies retinoschisin‐deficient Rs1h −/Y mice provided first indication pathological up‐regulation mitogen‐activated protein...
The pathogenesis of age-related macular degeneration (AMD), a frequent disorder the central retina, is incompletely understood. Genome-wide association studies (GWAS) suggest strong contribution genomic variation in AMD susceptibility. Nevertheless, little known about biological mechanisms disease. We reported previously that AMD-associated polymorphism rs704C > T vitronectin (VTN) gene influences protein expression and functional aspects encoded vitronectin, human blood extracellular matrix...
BR NAm
Summary Menkes' disease is a rare, genetically determined disturbance of copper metabolism which transmitted as an X‐linked recessive character. By comparative gene mapping it can be suggested that the most likely localization for on long arm human X chromosome close to band q l3. This regional assignment supported by present analysis genetic relationship between Menkes locus, Xg and centromere in five Danish families. The evidence suggests linkage locus centromere. value recombination...
X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy, caused by mutations in the RS1 gene which encodes secreted protein retinoschisin. In recent years, several molecules have been proposed to interact with retinoschisin, including Na/K-ATPase, L-voltage gated Ca2+ channels, and specific sugars. We recently showed that Na/K-ATPase consisting of subunits ATP1A3 ATP1B2 essential for anchoring retinoschisin plasma membranes identified glycosylated subunit as direct...