National Repository of Grey Literature 34 records found  1 - 10nextend  jump to record: Search took 0.01 seconds. 
Marfan syndrome, the main genetic causes
Šinknerová, Eliška ; Rothová, Olga (advisor) ; Daňková, Pavlína (referee)
This thesis is a review with the topic of Marfan syndrome (MFS) that hasn't been sufficiently described in Czech scientific literature yet. The first chapters pursue general informations and history of research of MFS, which was first desribed in 1896 and following research continued. During 1990s the main interest was to describe manifestations of Marfan syndrome and to find main genetic causes. Research continues until today and it is focused on searching specific mutations causing this syndrome. The thesis furthermore describes clinical manifestations classical MFS and neonatal MFS, e. g. manifestations in many body systems as sketal, cardiovascular, pulmonar and other systems. Thesis is focused on process which enables to diagnose MFS. The main part of the thesis is a desctiption of molecular nature and genetic aspects of this syndrome. The thesis describes in detail gene FBN1 and different types of mutationon which are responsible for formation of MFS. Attention is paid to genotype/phenotype correlation. This thesis also includes suggestions for work with this topic (MFS) in teaching at high schools and grammar schools.
Formation of complex chromosomal rearrangements in cancer cells and significance of these events
Rochlová, Kristina ; Zemanová, Zuzana (advisor) ; Rothová, Olga (referee)
Chromoanagenesis is a catch-all term of recently described catastrophic events that generate complex karyotypes. These events are divided according to the characteristic features and are termed chromothripsis, chromoplexis and chromoanasynthesis. Chromothripsis represents a disintegration of chromosomes or their parts into hundreds of small fragments. Those chromosome fragments are then incorrectly reassembled. Chromoplexis rearrangements are not very different from chromothripsis rearrangements. The main difference is a lower number of breakpoints and the distribution of aberrations in the whole genome. The erroneous replication processes occur during chromoanasynthesis. There are several mechanisms responsible for breakdowns of a DNA molecule. In the case of chromothripsis, micronucleus formation is probably the most important mechanism. During chromoplexis, transcriptional stress plays a major role. Replication stress is associated with chromoanasynthesis rearrangements. The result of all these processes are highly rearranged chromosomes with numerous losses or gains of genetic material. This work summarizes the current knowledge of the mechanisms that are mentioned above and the genesis of complex aberrations. At the same time, it represents the connection between complex karyotype and clonal...
Response of primary photosynthetic processes in C3 and C4 monocotyledonous plants to steroids aplication
Frimlová, Klára ; Rothová, Olga (advisor) ; Mocová, Klára Anna (referee)
Brassinosteroids and ecdysteroid are naturally occuring chemical compounds in plants. The aim of this study was to show whether the application of exogenous steroids such as brassinosteroids (24-epibrassinolide, 28-homobrassinolide, 24-epicastasterone) and ecdysteroid (20-hydroxyecdysone) can affect the morphological parameters and primary photosyntetic processes of selected monocotyledons that was barley, wheat, maize and sorghum. Non-destructive method for measuring of fast kinetics of chlorophyll fluorescence in investigated plants was used. Analysis of primary photosynthetic processes was realized in five time periods from the application of exogenous steroids on the two different old leaves. The response to the treatment by exogenous steroid was different species by plant species. One week after the application of exogenous steroids plants showed differences in their morphological parameters but most of them were not signifficant. The most steroid-sensitive plant was wheat morphological parameters of were significantly different from untreated control plants. No change in maximum quantum yield of photosystem II to the application of exogenous steroid in plants of Sorghum bicolor L. was detected. In the other examined plant species changes in photosynthesis parameters were detected which...
X chromosome inactivation in human with abnormal gonosomal assembly
Chaloupková, Veronika ; Šolc, Roman (advisor) ; Rothová, Olga (referee)
X chromosome inactivation is the process of genetic regulation of mammals, which is designed to balance the genetic dose between male sex chromosomes (XY) and female sex chromosomes (XX). During embryonic development in females, one of the two X chromosome is inactivated and that it's detected in the cell as a Barr body. The other chromosome remains active. The whole process is controlled by genes from the X inactivation center. At the same time, we can see that some genes from the inactivated chromosome can escape and they continue in creating their products. That could be the cause of different phenotype of individuals with heterochromosome aneuploidy. This work summarized the current knowledge of the process and regulation of X chromosome inactivation in people with abnormal set of gonosomes and compates them to the inactivation process in healthy woman.
Honey bee (Apis mellifera) virome
Kadlečková, Dominika ; Tachezy, Ruth (advisor) ; Rothová, Olga (referee)
Microbiome is composed of all microorganism (fungi, bacteria, archea, protozoa, virus) sharing the same space at the same time. Virome which consists of viruses either of the host or viruses of other microorganisms and of genetic elements derived from viruses, is part of the microbiome. Microbiome plays a role in a number of processes which are vital for development and survival of the host. Virome can affect host either directly or indirectly by interaction with other parts of microbiome. This thesis is focused on virome of Apis mellifera, globally managed pollinator. Viral diseases are one of the factors responsible for high colony losses of this pollinator and therefore this work is mostly dedicated to those viruses which were confirmed as pathogens of Apis mellifera. Also, their interaction with other pathogens of Apis mellifera, which leads to great losses of these pollinators will be discussed. Key words: virome, honey bee, Apis mellifera, honey bee viruses, colony losses
Polyploidy with specific view to paleopolyploidy and its detection
Kotz, Matěj ; Král, Jiří (advisor) ; Rothová, Olga (referee)
Polyploidy is a significant phenomenon in the evolution of eucaryotic organisms. It has been a subject of interest of biologists for decades and it has been studied particularly largely in plants, where it most often occurs. This thesis handles occurrence of poylploidy in organims and a special emphasis is laid on old polyploidization events occurrence of polyploidy in animal taxa. Furthermore, the types of polyploidy and obstacles are discussed here, that a polyploid organism has to tackle to stabilize its genome. That also includes the need to ensure the correct chromosome segregation in a meiotic division. A special case of polyploidy is paleopolyploidy (sometimes refered to as "ancient polyploidy" in English), which is an evolutionary old polyploidization event, that is followed by the process of diploidization. This process is characterized besides others by a large number of structural changes in chromosomes and a loss of some DNA sequences and a gradual transition of the polyploid genome to the cytologically diploid state. Because of these changes, it is difficult to detect a paleopolyploidy and the main part of this thesis is dedicated to this problem, in which the main approaches that might lead to its detection are discussed. Key words: polyploidy, animal, plant, meiosis, paleopolyploidy,...
The role of small non-coding RNAs in the regulation of plant reproductive development
Hromadová, Michaela ; Honys, David (advisor) ; Rothová, Olga (referee)
Small RNAs (sRNA) are broadly defined as regulatory molecules of 21-24 nucleotides in length which belong to the class of noncoding RNAs. They usually originate in response to the presence of double-stranded RNA in the cells and facilitate transcriptional and posttranscriptional gene silencing of complementary sequences. Their role lies not only in defence against exogenous nucleic acids, but primarily in the regulation of endogenous genes. Typical target molecules of plant sRNA are transposable elements and genes encoding the transcription factors involved in the control of key developmental transitions like the initiation of the reproductive phase and the regulation of its progress. The aim of this thesis is a summary of functional roles of individual small RNA in plant reproductive development, with focus to the female and male gametophytes and in the protection against the transition of transposable elements to following generations. Both endogenous and exogenous sRNA are amply utilized in plants, because they provide an immediate and direct response of the organism to rapidly changing conditions, and thus undoubtedly belong to the key factors which contribute to their phenotypic plasticity.

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