A5083483121- Parathyroid Disorders and Treatments
- Connexins and lens biology
- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
- Retinal Development and Disorders
- Alkaline Phosphatase Research Studies
- Genetic Syndromes and Imprinting
- Biochemical and Molecular Research
- Gastrointestinal Tumor Research and Treatment
- thermodynamics and calorimetric analyses
- Retinal and Macular Surgery
- DNA Repair Mechanisms
- Hormonal Regulation and Hypertension
- Genomics and Rare Diseases
- Metastasis and carcinoma case studies
- Ocular Disorders and Treatments
- Fibroblast Growth Factor Research
- Bone health and treatments
- Animal testing and alternatives
- Intraocular Surgery and Lenses
- Magnesium in Health and Disease
- Genetics and Neurodevelopmental Disorders
- Diet, Metabolism, and Disease
- Developmental Biology and Gene Regulation
- Aldose Reductase and Taurine
Helmholtz Zentrum München
2013-2024
RELX Group (United States)
2018
German Center for Diabetes Research
2014-2016
Heinrich Heine University Düsseldorf
2016
Deutsches Diabetes-Zentrum e.V.
2016
Center for Environmental Health
2012-2014
Ludwig-Maximilians-Universität München
2012
Mutations in Peroxidasin (PXDN) cause severe inherited eye disorders humans, such as congenital cataract, corneal opacity and developmental glaucoma. The role of peroxidasin during development is poorly understood. Here, we describe the first Pxdn mouse mutant which was induced by ENU (N-ethyl-N-nitrosourea) led to a recessive phenotype. Sequence analysis cDNA revealed T3816A mutation resulting premature stop codon (Cys1272X) peroxidase domain. This causes anterior segment dysgenesis...
Metabolic bone disorders arise as primary diseases or may be secondary due to a multitude of organ malfunctions. Animal models are required understand the molecular mechanisms responsible for imbalances metabolism in disturbed mineralization diseases. Here we present isolation mutant mouse metabolic by phenotyping blood parameters that target turnover within large-scale genome-wide Munich ENU Mutagenesis Project. A screening panel three clinical parameters, also commonly used biochemical...
Cataracts are the major eye disorder and have been associated mainly with mutations in lens-specific genes, but cataracts also frequently complex syndromes. In a large-scale high-throughput ENU mutagenesis screen we analyzed offspring of paternally treated C3HeB/FeJ mice for obvious dysmorphologies. We identified mutant suffering from rough coat small eyes only homozygotes; homozygous females turned out to be sterile. The mutation was mapped chromosome 7 between markers 116J6.1 D7Mit294;4...
The fatty acid receptor 1 (FFAR1/GPR40) mediates acid-dependent augmentation of glucose-induced insulin secretion (GIIS) in pancreatic β-cells. Genetically engineered Ffar1-knockout/congenic mice univocally displayed impaired acid-mediated secretion, but vivo experiments delivered controversial results regarding the function FFAR1 glucose homeostasis and liver steatosis. This study presents a new coisogenic mouse model carrying point mutation Ffar1 with functional consequence. These reflect...
Fibroblast growth factor 23 (FGF23) is a main regulator of mineral homeostasis. Low and high circulating FGF23 levels are associated with bone, renal, cardiovascular diseases, increased mortality. Understanding the factors signaling pathways affecting crucial for management these diseases their complications. Here, we show that activation Jak1/Stat3 pathway leads to inflammation in liver an increase hepatic synthesis, key hormone metabolism. This synthesis massive C-terminal levels, inactive...
POU3F4 is a POU domain transcription factor that required for hearing. In the ear, essential mesenchymal remodeling of bony labyrinth and causative gene DFNX2 human nonsyndromic deafness. Ear abnormalities underlie this form deafness, characterized previously in multiple spontaneous, radiation-induced transgenic mouse mutants. Here, we report three novel mutations result profound hearing loss both humans mice. A p.Gln79* mutation was identified child from an Israeli family, revealed by...
Precise knowledge of the health status experimental fish is crucial to obtain high scientific and ethical standards in biomedical research. In addition use sentinel fish, examination diseased a fundamental part all monitoring concepts. PCR assays offer excellent sensitivity ability test broad variety pathogenic agents different sample types. Recently, it was shown that analysis environmental samples such as water, sludge or detritus from static tanks can complement actually more reliable for...
Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models kidney diseases on the genetic background C3H inbred mice in phenotype-driven Munich ENU mutagenesis project. The phenotypically recessive mutant line HST011 was established and further analyzed. causative mutation detected POU domain, class 3 transcription factor (Pou3f3) gene, which leads to amino acid exchange Pou3f3L423P thereby affecting conserved homeobox domain protein. Pou3f3...
The clinical phenotype of retinal gliosis occurs in different forms; here, we characterize one novel genetic feature, (i.e., signaling via BMP-receptor 1b).
The vertebrate Scube (Signal peptide, CUB, and EGF-like domain-containing protein) family consists of three independent members, Scube1-3, which encode secreted cell surface-associated membrane glycoproteins. Limited information about the general function this gene is available, their roles during adulthood. Here, we present first Scube3 mutant mouse line (Scube3N294K/N294K), clearly shows phenotypic alterations by carrying a missense mutation in exon 8, thus contributes to our understanding...
Arterial hypertension represents one of the most common diseases in developed countries and rennin–angiotensin–aldosterone system is among major factors regulation blood pressure sodium balance. With exception rare monogenetic diseases, however, inheritance aldosterone secretion widely unknown. In this study, we investigated levels male female mice two inbred strains, C3HeB/FeJ C57BL/6J, as well their offspring F1 F2 generation. all cases, animals displayed lower than males. Furthermore,...
Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models kidney diseases on the genetic background C3H inbred mice in phenotype-driven Munich ENU mutagenesis project. The phenotypically dominant mutant line HST014 was established and further analyzed.Analysis causative mutation well standardized, systemic analysis carried out.The detected potassium channel tetramerization domain containing 1 (Kctd1) gene which leads to amino acid exchange...
Protein disulfide isomerases (PDIs) are oxidoreductases that involved in catalyzing the formation and rearrangement of bonds during protein folding. One PDI members is PDI-associated 6 (PDIA6) protein, which has been shown to play a vital role β-cell dysfunction diabetes. However, very little known about function this β-cells vivo. This study aimed describe consequences point mutation Pdia6 on development function.We generated an ENU mouse model carrying missense (Phe175Ser) second...
Animal models resembling human mutations are valuable tools to research the features of complex craniofacial syndromes. This is first report on a viable dominant mouse model carrying non-synonymous sequence variation within endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease causing in three individuals with mandibulofacial dysostosis alopecia (MFDA, OMIM 616367) syndrome....
In an attempt to define novel genetic loci involved in the pathophysiology of primary aldosteronism, a mutagenesis screen after treatment with alkylating agent N -ethyl- -nitrosourea was established for parameter aldosterone. One generated mouse lines hyperaldosteronism phenotypically and genetically characterized. This line had high aldosterone levels but normal creatinine urea values. The steroidogenic enzyme expression adrenal gland did not differ significantly among affected unaffected...
We analyzed two mutant mouse lines, ATE 1 and 2, that carry point mutations in the enamelin gene which result premature stop codons exon 8 7, respectively. Both lines show amelogenesis imperfecta. To establish effect of within on different organs, we performed a systematic, standardized phenotypic analysis both G erman M ouse C linic. In addition to initially characterized tooth phenotype is present detected effects bone energy metabolism, as well clinical chemical hematological parameters....
During an ENU (N-ethyl-N-nitrosourea) mutagenesis screen, we observed a dominant small-eye mutant mouse with viable homozygotes. A corresponding line was established and referred to as Aey69 (abnormality of the eye #69). Comprehensive phenotyping homozygous mutants in German Mouse Clinic revealed only subset statistically significant alterations between wild types mutants. The mutation causes microphthalmia without lens but retinal hyperproliferation. Linkage demonstrated chromosome 3...
Consumption of phosphate-rich diets causes an adaptive response the body leading to urinary excretion phosphate. The underlying mechanisms are still poorly understood. Here, we examined role calcium-sensing receptor (CaSR) that senses both calcium and We confirmed increases secretion parathyroid hormone involved in stimulating phosphate excretion. However, did not find any evidence for a beyond this function.
Teleost fish such as