National Repository of Grey Literature 30 records found  previous11 - 20next  jump to record: Search took 0.00 seconds. 
Maternal and fetal microchimerism.
Hynková, Marie ; Tlapáková, Tereza (advisor) ; Pačes, Jan (referee)
Microchimerism is defined as the presence of small amount of genetically distinct cells in one individual. It most often arises during pregnancy and breastfeeding. It can also arise from blood transfusion or organ transplantation. During pregnancy there occurs a bidirectional migration of cells through the placenta between the mother and the fetus. Cells which are transferred during pregnancy and breastfeeding can persist in the offspring until adulthood. During breastfeeding, a big number of immune cells is transferred to the offspring via mother's milk. These cells protect the offspring against pathogens and are involved in modulation of its immune system. Fetal cells persist in mother organism even decades after giving birth and can have long-lasting effect on mother's health condition. These fetal cells can help to regenerate mother's damaged tissues, but they can also contribute to the development of serious autoimmune diseases.
Current methods of genome analysis and their use in identification of genetic determinants of human diseases
Stránecký, Viktor ; Kmoch, Stanislav (advisor) ; Kleibl, Zdeněk (referee) ; Pačes, Jan (referee)
The study of rare genetic diseases presents unique opportunity to uncover the genetic and molecular basis of human traits and greatly helped to the identification of genes, to the elucidation of their function and to the characterization of metabolic pathways and cellular processes. Over the past decades, linkage analysis has been appropriate approach to search for the genes causing Mendelian diseases and contributed to the identification of many genes, but the genetic cause of many diseases remains unknown. New methods of studying the human genome, microarray technology and massively parallel sequencing (next generation sequencing), represent a way to efficiently identify the cause of genetically determined diseases, based on direct observation of mutations in the genome of affected individuals. These techniques replaced the traditional method of disease gene identification represented by linkage analysis and sequencing of candidate genes and have become the standard approach to elucidate the molecular basis of diseases. In this work, i describe the the results achieved by using these methods - identification of the genes underlying mucopolysacharidosis type IIIC, isolated defect of ATP synthase, Rotor syndrome, autosomal dominat ANCL and GAPO syndrome.
Cellular and molecular mechanisms of naive T-cell priming
Kramářová, Ilona ; Musil, Jan (advisor) ; Pačes, Jan (referee)
T cell priming is a complicated signalling process involving several levels of molecular and spatiotemporal regulation. Whether TCR signalling is initiated depends on the TCR signalling threshold which is thought to be set during the T cell development in thymus by CD5 and CD6. TCR intrinsic downstream signalling ("Signal 1") involves several pathways which result in the production of the main proinflammatory transcription factors, namely NF-κB, NFAT and AP-1. Those transcription factors participate in the transcription of proinflammatory cytokines such as IL-2. The molecular interface of T cell priming involves signalling from several types of costimulatory receptors, namely CD28, CD27 and HVEM, which are allocated to the immunological synapse. A significant overlap is present between the downstream signalling networks of TCR and costimulatory molecules which amplifies the transcription of proinflammatory genes. Shortly after T cell priming, coinhibitory molecules, namely CTLA-4 and PD-1, are upregulated to deliver negative signals to tune the stimulatory signalling. The interplay between costimulatory and coinhibitory molecules represents "Signal 2" that is responsible for further progression of T cell signalling. Key words T cell priming, TCR signalling, T cell costimulation, T cell...
Genome analysis techniques and their applications in elucidation of molecular underpinnings of rare genetic diseases.
Přistoupilová, Anna ; Kmoch, Stanislav (advisor) ; Sedláček, Zdeněk (referee) ; Pačes, Jan (referee)
Rare diseases represent a heterogeneous group of more than ~7000 different diseases, affecting 3,5-5,9% of the global population. Most rare diseases are genetic, but causal genes are known only in some of them. Many patients with rare diseases remain without a diagnosis, which is crucial for genetic counseling, prevention, and treatment. With the development of new methods of genome analysis, decreasing cost of sequencing, and increasing knowledge of the human genome, a new concept for identifying disease-causing genes was established. It is based on comparing the patient's genetic variability with the genetic variability of the general population. This dissertation describes next-generation sequencing technologies (NGS), bioinformatic analysis of acquired data and their applications in the elucidation of molecular underpinnings of rare genetic diseases. These procedures have led to the identification and characterization of causal genes and gene mutations in autosomal dominant tubulointerstitial kidney disease (SEC61A1, MUC1), autosomal dominant neuronal ceroid lipofuscinosis (CLN6, DNAJC5), neurodegenerative disease of unknown etiology (VPS15), Acadian variant of Fanconi syndrome (NDUFAF6) and spinal muscular atrophy (SMN1). The application of novel genome analysis techniques increased the...
NK cells and KIR receptors: their importance in haematopoietic stem cell transplantations in leukemia
Ledvinková, Anna ; Vraná, Milena (advisor) ; Pačes, Jan (referee)
NK cells and KIR receptors: their importance in haematopoietic stem cell transplantations in leukemia Abstract This bachelor thesis discusses the importance of NK (natural-killer) cells in leukemias. It focuses on the structure and reactivity of NK cells, and especially on transmembrane KIR receptors (killer cell immunoglobulin-like receptors) of NK cells, that play an important role in the elimination of leukemic cells (graft-versus leukemia reaction, GvL) and thus in the overall prognosis of the disease. Activation and inhibitory receptors of KIR, by their cooperation, control the cytotoxic activity of NK cells. Thus, the typing of KIR receptor genes in hematopoietic stem cell donors can predict treatment success. KIR genes examination is mainly used in patients diagnosed with acute myeloid leukemia. Keywords: KIR receptor, NK cells, haematopoietic stem cell transplantation, HSCT, leukemia, donor, recipient
The role of the cellular prion protein in the cells of the immune system
Havlík, Martin ; Holada, Karel (advisor) ; Pačes, Jan (referee) ; Pačes, Jan (referee)
Prion protein (PrPC) is connected with the origin of transmissive spongiform encephalopathies (TSEs), fatal diseases that are on the molecular level based on the conversion of the cellular form of prion protein, PrPC, into the infectious form, PrPTSE. This isoform, exhibiting increased resistance against proteases and common decontamination methods, accumulates in tissues and causes degenerative damages of the central nervous system. Potential physiological function of PrPC in cells remains unclear, though many efforts have been focused on this research area in past years. Expression of PrPC was detected especially in neurons, high levels of PrPC are also present in different types of cells of immune system. Whereas some immunocompetent cells were widely examined, the relationship of PrPC with the function of others was not studied. PrPC probably plays a role in differentiation and activation of some immune cells, participates in regulation of cytokine production and other immune processes, affects grow of CD4+ T-cell population and also takes a part in formation of secondary lymphatic organs. This bachelor thesis is focused on summarization of existing knowledge describing the role of the cellular prion protein in cells of immune system, which is important also from the point of view of diagnosis...
Gene order in eukaryotic genomes: an analysis using sequence-based gene expression data
Divina, Petr ; Forejt, Jiří (advisor) ; Pačes, Jan (referee) ; Mokrejš, Martin (referee)
ZÁVĚRY 61 6. ZÁVĚRY 6.1. Analýza genů exprimovaných v myším varleti a jejich uspořádání v genomu Pomocí expresního profilování metodou SAGE (sériová analýza genové exprese) byl vytvořen katalog genů exprimovaných ve varleti dospělých myší. Byly identifikovány poziční klastry genů na chromosomech obsahující geny s preferenční expresí ve varleti. Tyto klastry obsahovaly signifikantně vyšší počet genů než v náhodně vygenerovaných genomech. Geny specificky exprimované v somatických buňkách myšího varlete byly signifikantně obohacené na chromosomu X, což podporuje teorii o hromadění genů preferenčně exprimovaných v samčích tkáních na chromosomu X. Geny exprimované z chromosomu X byly ochuzené v transkriptomu celého myšího varlete, což je v souladu s představou o inaktivaci chromosomu X během prvního meiotického dělení. Byla vytvořena veřejně přístupná internetová databáze Mouse SAGE Site, která shromažďuje expresní data z myších tkání a buněčných liniích vytvořená pomocí metody SAGE. 6.2. Genový obsah chromosomu Z kura domácího Chromosom Z kura domácího byl signifikantně obohacený o geny preferenčně exprimované v samčím mozku. ZÁVĚRY 62 Geny s preferenční expresí v samičím mozku vykazovaly náznak ochuzení na chromosomu Z. Podobně, geny specificky exprimované ve vaječnících byly na chromosomu Z...
Metagenomic profiling of microbial consortia
Rídl, Jakub ; Pačes, Jan (advisor) ; Krásný, Libor (referee) ; Novák, Petr (referee)
Methods of molecular biology enable studies on microbial diversity based on analysis of genes encoding processes and biochemical pathways of individual microorganisms and also complete microbial consortia. For this a crucial step was elaboration of new technologies of high-throughput DNA sequencing. These methods made it possible to advance studies of diversity from analysis of genomes of model microorganisms easily cultivated in laboratories to simple communities living in extreme environments and further to complex microbial consortia. This experimental approach is based on metagenomic analyses. Important are studies on ecosystems negatively affected by human activity where microorganisms not only survive but they can convert their metabolism to degrade compounds toxic for higher organisms. An example is bacterium Achromobacter xylosoxidans A8 isolated form soils contaminated by toxic chlorobenzoates. Sequencing and analysis of Achromobacter xylosoxidans A8 genome made it possible to study genes coding for enzymes that are involved in chlorobenzoates degradation in the context of the complete genetic background. An interesting microbial biofilm - gelatinous stalactites - was discovered in an extremely acidic environment of the abandoned mine in Zlaté Hory (the Czech Republic). It is formed by a simple...
Characterization of the distribution and dynamics of the antigen-presenting cells using MHC II-EGFP knock-in mouse model
Pačes, Jan ; Černý, Jan (advisor) ; Tlaskalová - Hogenová, Helena (referee)
Results of recent studies indicate that dendritic cells are capable of transporting commensal intestinal bacteria into the mammary glands, which ultimately leads to their occurrence in breast milk. We have therefore decided to evaluate the phenotype of immunologically relevant antigen presenting cells (APCs) present in the mammary glands and the small intestine, respectively and perform a comparison study. We also studied plasticity of these populations during lactation. In situ immunodetection and flow cytometry methods were used to determine phenotype. We succeeded in optimising the methods for preparation of samples for flow cytometry and microscopy. We thoroughly tested protocols for 3D visualisation of APC populations and quantitative image analysis for correlation with flow cytometry, further optimization is nevertheless needed. We found out that during lactation large numbers of MHC II+ cells cluster around the alveoli and milk ducts. These cells are of a distinctly dendritic shape and their phenotype does not correspond to the APCs in the surrounding tissue. A pronounced increase of APC cells in the mammary glands between the fourth and sixth days of lactation was observed, with the majority of these cells expressing the CD103 antigen typical for cell populations of immune cells of the...

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