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National Repository of Grey Literature 3 records found  Search took 0.01 seconds. 
Significance of somatic mutations in chronic lymphocytic leukemia
 Tauchmanová, Petra ; Savvulidi Vargová, Karina (advisor) ; Javorková, Eliška (referee)
Chronic lymphocytic leukemia (CLL) represents the most prevalent leukemia in Europe and USA. CLL affects predominatly elderly people (median age, 70y). This lymphoproliferative disorder is characterised by an accumulation of mature B-cells in the peripheral blood, bone marrow and lymph nodes. The lifespan of CLL cells is longer than normal healthy B-cells due to impaired cell cycle and apoptosis. CLL cells dysplay several chromosomal aberations and genetic abnormalities. The next generation sequencing revealed many somatic mutations in CLL cells. Analysis of these somatic mutations in CLL facilitates detail understanding at the disease molecular basis and opens new possibilities to the personalised therapy. The main aim of this thesis is brief description of CLL as disease and to summarise the recent knowledge in the field of next generation sequencing with attention to CLL.
Detailed record
Significance of somatic mutations in chronic lymphocytic leukemia
 Tauchmanová, Petra ; Savvulidi Vargová, Karina (advisor) ; Javorková, Eliška (referee)
Chronic lymphocytic leukemia (CLL) represents the most prevalent leukemia in Europe and USA. CLL affects predominatly elderly people (median age, 70y). This lymphoproliferative disorder is characterised by an accumulation of mature B-cells in the peripheral blood, bone marrow and lymph nodes. The lifespan of CLL cells is longer than normal healthy B-cells due to impaired cell cycle and apoptosis. CLL cells dysplay several chromosomal aberations and genetic abnormalities. The next generation sequencing revealed many somatic mutations in CLL cells. Analysis of these somatic mutations in CLL facilitates detail understanding at the disease molecular basis and opens new possibilities to the personalised therapy. The main aim of this thesis is brief description of CLL as disease and to summarise the recent knowledge in the field of next generation sequencing with attention to CLL.
Detailed record
The establishment of genomic resources to study of heavy metal tolerance in the genus Silene
 Nevrtalová, Eva
The aim of the thesis is the establishment of genomic resources for genus Silene with an emphasis to study heavy metal tolerance. The genus Silene has been widely used as a model system for addressing ecological and evolutionary questions in plants, but available genomic resources within Silene remain limited and thus broad utilisation of this genus is still capped. Next generation sequencing (NGS) has proven to be a rapid and cost-effective and it serves for quick whole genome characterization non-model organisms. In this study, the unique transcriptome databases are reported for two populations of Silene vulgaris with different tolerance to copper. Due to these databases, we were able to identify putative genes that could be responsible for heavy metal tolerance. We provide closer characterisation of two genes acting on the different levels in a detoxification pathway. Expression of these genes is influenced by copper stress conditions and functional analysis in yeast confirmed the function in copper tolerance. We supposed that these genes participated in heavy metal detoxification and serve as epistatic modificators of heavy metal tolerance in S. vulgaris. Silene latifolia is the most studied species within genus Silene presenting an ideal candidate with a similar role as Arabidopsis thaliana plays in Brassicacea. Therefore we have established haploid and dihaploid S. latifolia plants for further forward and reverse genetic studies in this and related species including S. vulgaris. Taken together, our genomic resources can serve for evolutionary and ecological studies and they are freely available to broad scientific community.
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