A5043441685- dental development and anomalies
- Evolution and Paleontology Studies
- Cancer-related gene regulation
- Inflammasome and immune disorders
- Bone and Dental Protein Studies
- Connective tissue disorders research
- Adipose Tissue and Metabolism
- Biomedical Text Mining and Ontologies
- Bioinformatics and Genomic Networks
- Bat Biology and Ecology Studies
- Autophagy in Disease and Therapy
- RNA modifications and cancer
- Marine animal studies overview
- Osteomyelitis and Bone Disorders Research
- Wildlife Ecology and Conservation
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Fibroblast Growth Factor Research
- Oral and Maxillofacial Pathology
- Protein Tyrosine Phosphatases
- Paleontology and Evolutionary Biology
- Dermatological and Skeletal Disorders
- Mercury impact and mitigation studies
- Corneal Surgery and Treatments
- Animal Ecology and Behavior Studies
- Advanced Biosensing Techniques and Applications
Czech Academy of Sciences, Institute of Molecular Genetics
2015-2024
Czech Academy of Sciences
2013-2023
Institute of Molecular Genetics
2022-2023
Charles University
2023
Czech Academy of Sciences, Institute of Experimental Medicine
2013-2016
Toronto Centre for Phenogenomics
2016
Sewanee: The University of the South
2010
Significance Formation of the hardest mineralized tissue in vertebrates, tooth enamel, relies on a unique set enamel matrix proteins (EMPs). These EMPs assemble into 3D extracellular organic that directs deposition calcium and phosphate ions hydroxyapatite crystallites. However, molecular basis EMP assembly remains poorly understood. This study shows self-assembly key EMPs, ameloblastin amelogenin, involves short linear amino acid motif is evolutionarily conserved from first tetrapods to...
The use of thiazolidinediones (TZDs) as insulin sensitizers has been shown to have side effects including increased accumulation bone marrow adipocytes (BMAds) associated with a higher fracture risk and loss. A novel TZD analog MSDC-0602K low affinity PPARγ developed reduce adverse therapy. However, the effect on phenotype mesenchymal stem cells (BM-MSCs) in relation obesity not intensively studied yet.Here, we investigated whether 8-week treatment less detrimental loss BM-MSC properties...
Obesity adversely affects bone and fat metabolism in mice humans. Omega-3 polyunsaturated fatty acids (omega-3 PUFAs) have been shown to improve glucose homeostasis obesity. However, the impact of omega-3 PUFAs on marrow adipose tissue (BMAT) stromal cell (BMSC) has not intensively studied yet. In present study we demonstrated that PUFA supplementation high diet (HFD + F) improved parameters, mechanical properties along with decreased BMAT obese when compared HFD group. Primary BMSCs...
The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that frequently altered range pathologies, including osteoporosis. A total 200 genes were found to significantly affect BMD. This pool BMD comprised 141 previously unknown functions biology and was complementary pools derived recent human studies. Nineteen the also caused skeletal...
Family of Sequence Similarity 83H (FAM83H/ SACK1H) is primarily expressed in epithelial cells, where it interacts with casein kinase 1 (CK1) and keratins to regulate cytoskeletal organization, cell proliferation, vesicular trafficking. Mutations FAM83H are known cause amelogenesis imperfecta, highlighting its critical role enamel formation. We generated Fam83h-deficient mice (Fam83hem2(IMPC)Ccpcz, Fam83h-/-) lacking a part the N-terminal CK1-binding domain (Fam83h∆87/∆87). Consistent other...
LST1 is a small adaptor protein expressed in leukocytes of myeloid lineage. Due to the binding tyrosine phosphatases SHP1 and SHP2 it was thought have negative regulatory function leukocyte signaling. It also shown be involved cytoskeleton regulation generation tunneling nanotubes. gene located MHCIII locus close many immunologically relevant genes. In addition, its expression increases under inflammatory conditions such as viral infection, rheumatoid arthritis bowel disease deficiency...
ABSTRACT In mice, a toothless diastema separates the single incisor from three molars in each dental quadrant. prospective of embryo, small rudimentary buds are found that presumed to be rudiments suppressed teeth. A supernumerary tooth occurs adult mice carrying mutations either Spry2 or Spry4 . case mutants, origin involves revitalization bud (called R2), whereas its mutants is not known. addition R2, another primordium MS) arises more anteriorly diastema. We investigated participation...
Introduction The aim of the study was to analyse genetic architecture RA by utilizing multiparametric statistical methods such as linear discriminant analysis (LDA) and redundancy (RDA). Methods A total 1393 volunteers, 499 patients with 894 healthy controls were included in study. presence shared epitope (SE) HLA-DRB1 11 SNPs (PTPN22 C/T (rs2476601), STAT4 G/T (rs7574865), CTLA4 A/G (rs3087243), TRAF1/C5 (rs3761847), IRF5 T/C (rs10488631), TNFAIP3 (rs5029937), AFF3 A/T (rs11676922), PADI4...
The patterning of repeated structures is a major theme in developmental biology, and the inter-relationship between spacing size such an unresolved issue. Fungiform papillae are epithelial that house taste buds on anterior tongue. Here, we report FGF signaling crucial regulator fungiform development. We found mesenchymal FGF10 controls papillary area, while overall remains unchanged. Our results show negatively affects extent canonical Wnt signaling, which main activation pathway during...
The Tasmanian tiger or thylacine ( Thylacinus cynocephalus ) was an iconic Australian marsupial predator that hunted to extinction in the early 1900s. Despite sharing striking similarities with canids, they failed evolve many of specialized anatomical features characterize carnivorous placental mammals. These evolutionary limitations are thought arise from functional constraints associated mode reproduction, which otherwise highly altricial young use their well-developed forelimbs climb...
Abstract Type 2 diabetes mellitus represents a major health problem with increasing prevalence worldwide. Limited efficacy of current therapies has prompted search for novel therapeutic options. Here we show that treatment pre-diabetic mice mitochondrially targeted tamoxifen, potential anti-cancer agent senolytic activity, improves glucose tolerance and reduces body weight most pronounced reduction visceral adipose tissue due to reduced food intake, suppressed adipogenesis elimination...
The tribosphenic molar is a dental apomorphy of mammals and the type from which all derived types originated. Its enamel coat expected to be ancestral: thin, evenly distributed layer radial prismatic enamel. In bat Myotis myotis, we reinvestigated 3D architecture using serial sectioning combined with scanning electron microscopy analyses, biometrics prisms crystallites, X-ray diffraction. We found distinct heterotopies in thickness (thick on convex sides crests, thin concave ones),...
A number of human autoinflammatory diseases manifest with severe inflammatory bone destruction. Mouse models these represent valuable tools that help us to understand molecular mechanisms triggering this autoinflammation. The Pstpip2cmo mouse strain is among the best characterized these; it harbors a mutation resulting in loss adaptor protein PSTPIP2 and development osteomyelitis. In mice, overproduction interleukin-1β (IL-1β) reactive oxygen species by neutrophil granulocytes leads...
Abstract The skeletal system mirrors several processes in the vertebrate body that impact developmental malfunctions, hormonal disbalance, malfunction of calcium metabolism and turn over, inflammation such as arthrosis. X‐ray micro computed tomography is a useful tool for 3D situ evaluation time‐related manner, but results depend highly on resolution. Here, we provide methodological background graduated from whole‐body analysis morphology mineralization to high‐resolution femoral vertebral...
Introduction Fibroblast growth factor 20 (Fgf20), a member of the Fgf9 subfamily, was identified as an important regulator bone differentiation and homeostasis processes. However, role Fgf20 in physiology has not been approached yet. Here we present comprehensive phenotype analysis mice with functional ablation Fgf20. Methods The study conducts extensive knockout compared to controls, incorporating microCT scanning, volumetric analysis, subfamily expression stimulation experiment...
Abstract Achondroplasia is the most common form of human dwarfism caused by mutations in FGFR3 receptor tyrosine kinase. Current therapy begins at two years age and improves longitudinal growth but does not address cranial malformations including midface hypoplasia foramen magnum stenosis, which lead to significant otolaryngeal neurologic compromise. A recent clinical trial found partial restoration defects with starting 3 months age, results are still inconclusive. The benefits...
Abstract Autoinflammatory diseases are characterized by dysregulation of the innate immune system, leading to spontaneous inflammation. Pstpip2cmo mouse strain is a well-characterized model this class disorders. Because mutation lack adaptor protein PSTPIP2, these animals suffer from autoinflammatory chronic multifocal osteomyelitis similar several human syndromes. Current evidence suggests that it driven hyperproduction IL-1β neutrophil granulocytes. In study, we show in addition IL-1β,...
Abstract Several rodent genera radiated in Ethiopian highlands during Pleistocene, giving rise to species specialized different elevation zones. The zonation is accompanied by vegetation change from savannahs or forests lower elevations, through the mid-elevation belt of ericaceous shrublands Afroalpine moorlands on mountain tops. Such evolution gradient expected promote phenotypic adaptations and several are known include highly distinctive high-elevation specialists. In this study, we...
The knowledge about the contribution of innate immune system to health and disease is expanding. However, obtain reliable results, it critical select appropriate mouse models for in vivo studies. Data on genetic phenotypic changes associated with different strains can assist this task. Such data also facilitate our understanding how specific polymorphisms alterations affect gene function, phenotypes, outcomes. Extensive information available all major strains. comparatively little known...
Pathogenic variants in the highly conserved OVOL2 promoter region cause posterior polymorphous corneal dystrophy (PPCD) 1 by inducing an ectopic expression of endothelial mRNA. Here we produced allelic series Ovol2 mutations mouse model including heterozygous c.-307T>C variant (RefSeq NM_021220.4) causing PPCD1 humans. Despite high evolutionary conservation promoter, only some alterations its sequence had phenotypic consequences mice. Four independent distal part no significant effect on...