A5064129668- Animal Genetics and Reproduction
- Birth, Development, and Health
- CRISPR and Genetic Engineering
- Diet and metabolism studies
- Biomedical Text Mining and Ontologies
- Genetic diversity and population structure
- DNA Repair Mechanisms
- Pancreatic function and diabetes
- Carcinogens and Genotoxicity Assessment
- Ubiquitin and proteasome pathways
- Cancer-related Molecular Pathways
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- Reproductive Biology and Fertility
- Bioinformatics and Genomic Networks
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Cancer, Hypoxia, and Metabolism
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Molecular Biology Techniques and Applications
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Wnt/β-catenin signaling in development and cancer
- Gene expression and cancer classification
RIKEN BioResource Research Center
2015-2024
Foundation for Biomedical Research and Innovation
2018-2024
Indiana University
2024
University of Wisconsin–Madison
2024
Indiana University School of Medicine
2024
Institute for Biomedical Research and Innovation
2018-2020
Helmholtz Zentrum München
2017
German Center for Neurodegenerative Diseases
2017
Technical University of Munich
2017
Munich Cluster for Systems Neurology
2017
The germline mutation rate is an important parameter that affects the amount of genetic variation and evolution. However, neither mutations in laboratory mice nor biological significance mammalian populations clear. Here we studied genome-wide rates long-term effects accumulation on phenotype more than 20 generations wild-type C57BL/6 mutator mice, which have high DNA replication error rates. We estimated base-substitution to be 5.4 × 10(-9) (95% confidence interval = 4.6 10(-9)-6.5 10(-9))...
The paternal duplication of mouse distal chromosome 12 leads to late embryonal/neonatal lethality and growth promotion, whereas maternal embryonal retardation. Human or uniparental disomies 14q that are syntenic have also been reported show some imprinting effects on growth, mental activity musculoskeletal morphology. For the isolation imprinted genes in this region, a systematic screen maternally expressed (Megs) was carried out by our subtraction-hybridization method using androgenetic...
The cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that highly conserved among eukaryotes. It was recently reported subjects harboring mutations the NGLY1 gene exhibited severe systemic symptoms (NGLY1-deficiency). While obviously has critical role mammals, its precise function remains unclear. In this study, we analyzed Ngly1-deficient mice and found they are embryonic lethal C57BL/6 background. Surprisingly, additional deletion of encoding...
Abstract Pogo transposable element derived with ZNF domain ( POGZ ) has been identified as one of the most recurrently de novo mutated genes in patients neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, neurobiological basis behind these remains unknown. Here, we show that regulates neuronal development ASD-related mutations impair developing mouse brain induced pluripotent cell lines from an ASD...
The non-obese diabetic (NOD) mouse is an excellent animal model of autoimmune diabetes associated with insulitis. progression insulitis causes the destruction pancreatic beta cells, resulting in development hyperglycemia. Although it has been well documented that T cells are required for and NOD mice, importance B remains unclear. To clarify role pathogenesis we therefore generated cell-deficient (B-NOD) mice. Surprisingly, none (of 13) B-NOD mice developed by 40 weeks age, while control...
In this study, we investigated the carcinogenic response of transgenic mice carrying human prototype c-Ha-ras gene, namely Tg rasH2/CB6F1 mice, to various genotoxic carcinogens and compared it with that control non-transgenic CB6F1 (non-Tg mice). The present studies were conducted as first step in evaluation mouse a model for rapid carcinogenicity testing system. Short-term (≤6 months) tests carcinogens, 4-nitroquinoline-1-oxide, cyclophosphamide, N, N-diethyl-nitrosamine,...
The Animal Research: Reporting of In Vivo Experiments (ARRIVE) guidelines were developed to address the lack reproducibility in biomedical animal studies and improve communication research findings. While intended guide preparation peer-reviewed manuscripts, principles transparent reporting are also fundamental for vivo databases. Here, we describe benefits challenges applying International Mouse Phenotyping Consortium (IMPC), whose goal is produce phenotype 20,000 knockout mouse strains a...
Sirh7/Ldoc1 [sushi-ichi retrotransposon homolog 7/leucine zipper, downregulated in cancer 1, also called mammalian retrotransposon-derived 7 (Mart7)] is one of the newly acquired genes from LTR retrotransposons eutherian mammals. Interestingly, knockout (KO) mice exhibited abnormal placental cell differentiation/maturation, leading to an overproduction progesterone (P4) and lactogen 1 (PL1) trophoblast giant cells (TGCs). The placenta organ that essential for viviparity plays a major...
Amelogenesis imperfecta (AI) is a group of commonly inherited defects dental enamel formation, which exhibits marked genetic and clinical heterogeneity. The basis this heterogeneity still poorly understood. Enamelin, the affected gene product in one form AI (AIH2), an extracellular matrix protein that components enamel. We isolated three ENU-induced dominant mouse mutations, M100395, M100514 M100521, caused AI-like phenotypes incisors molars individuals. Linkage analyses mapped each...
Excessive accumulation of bone marrow adipocytes observed in senile osteoporosis or age-related osteopenia is caused by the unbalanced differentiation MSCs into osteoblasts. Several transcription factors are known to regulate balance between adipocyte and osteoblast differentiation. However, molecular mechanisms that have yet be elucidated. To identify candidate genes associated with osteoporosis, we performed genome-wide expression analyses differentiating osteoblasts adipocytes. Among were...
Lung surfactant is a complex mixture of lipids and proteins, which secreted from the alveolar type II epithelial cell coats surface alveoli as thin layer. It plays crucial role in prevention collapse through its ability to reduce tension. Under normal conditions, homeostasis maintained by balancing release uptake for recycling internalization macrophages degradation. Little known about how pool monitored regulated. Here we show, an analysis gene-targeted mice exhibiting massive accumulation...
Skin homeostasis is maintained by the continuous proliferation and differentiation of epidermal cells. The skin forms a strong but flexible barrier against microorganisms as well physical chemical insults; however, physiological mechanisms that maintain this are not fully understood. Here, we have described mutant mouse spontaneously develops pruritic dermatitis result an initial defect in followed induction Th2-biased immune response. These mice harbor mutation results single aa...
Growth and differentiation factor 5 (GDF5) has been implicated in chondrogenesis joint formation, an association of GDF5 osteoarthritis (OA) reported recently. However, the vivo function remains mostly unclarified. Although various human mutations their phenotypic consequences have described, only loss-of-function that cause brachypodism (shortening ankylosis digits) mice. Here, we report a new Gdf5 allele derived from large-scale N -ethyl- -nitrosourea mutagenesis screen. This carries amino...
During the course of inflammation and its resolution, macrophages are exposed to various cytotoxic materials, including reactive oxygen species. Thus, require a protective machinery against oxidative stress survive at inflammatory site. Here, we showed that xCT, component transport system x c − , was significantly up-regulated in activated infiltrating cells, neutrophils System mediates uptake extracellular L-cystine is consequently responsible for maintenance intracellular glutathione...
A critical step during intrathymic T-cell development is the transition of CD4؉ CD8 ؉ double-positive (DP) cells to major histocompatibility complex class I (MHC-I)-restricted CD4 ؊ and MHC-II-restricted single-positive (SP) cell stage.Here, we identify a novel gene that essential for this process.Through phenotype-based screening N-ethyl-N-nitrosourea (ENU)-induced mutant mice, established mouse line in which numbers SP thymocytes as well peripheral T were dramatically reduced.Using linkage...