Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type

Vyšetření genů DNM2, GARS, MORC2, TRPV4 a SOD1 u českých pacientů s dědičnou neuropatií axonálního typu V dizertační práci jsem se zaměřila na diagnostiku axonální formy dědičné neuropatie, protože v té době byla u pacientů s axonální formou CMT výrazně nižší objasnitelnost metodami klasické molekulární genetiky než u pacientů s demyelinizačními typy CMT. Pro další vyšetření u pacientů bez objasněné příčiny axonální formy CMT byly zvoleny geny DNM2, GARS a TRPV4. Cílem bylo zjistit spektrum a frekvenci mutací v těchto genech jako příčiny CMT2 u českých pacientů. Dále jsme v průběhu řešení projektu přidali vyšetření genů MORC2 a SOD1. Kauzální varianty v těchto dvou genech byly prokázány u našich pacientů pomocí celoexomového sekvenování. Proto jsme následně vyšetřili i větší skupinu pacientů na přítomnost variant v těchto dvou genech, s cílem zjistit, jak časté jsou tyto varianty v české populaci. Klasickým Sangerovým sekvenováním jsem vyšetřila reprezentativní soubor pacientů s CMT2 na přítomnost variant v genech: DNM2 (37 pacientů), GARS (10 pacientů), TRPV4 (24 pacientů) a SOD1 (43 pacientů). Metodou RFLP jsem vyšetřila 161 pacientů na přítomnost varianty p.Arg190Trp v genu MORC2. Soubor pacientů s CMT2 (50 pacientů) jsme podrobili také analýze metodou MLPA pomocí kitu na detekci duplikací a delecí pro...Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type For my PhD thesis I chose to work with patients with axonal form of CMT, because at that time axonal forms were less likely to be clarified by classical methods of molecular genetics. For further examination in patients with unclear cause of the axonal CMT, the genes DNM2, GARS and TRPV4 were selected. The aim was to determine the significance of pathogenic mutations in these genes as the cause of CMT2 in Czech patients. In the course, we identified causal variants in the genes MORC2 and SOD1 with WES. Therefore, we have tested additional CMT2 patients for the presence of these variants. Using Sanger sequencing, I examined a representative set of patients for the DNM2 (37), GARS (10) and TRPV4 (24) genes without finding a causal mutation, then we investigated genes SOD1 (43 patients) and MORC2 (161 patients). The cohort (50 patients) was also subjected to MLPA analysis using a P406-A1 CMT2 duplication and deletion detection kit for genes RAB7A, GARS, HSPB1, HSBP8 and SPTLC1 (kit P406-A1 CMT2). At that time, massively parallel sequencing (MPS) was becoming important. We compared the cost of classical sequencing versus MPS, and accordingly, we decided that the genes DNM2, GARS, MORC2, TRPV4...Klinika dětské neurologieDepartment of Paediatric Neurology2. lékařská fakultaSecond Faculty of Medicin

Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type

Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type For my PhD thesis I chose to work with patients with axonal form of CMT, because at that time axonal forms were less likely to be clarified by classical methods of molecular genetics. For further examination in patients with unclear cause of the axonal CMT, the genes DNM2, GARS and TRPV4 were selected. The aim was to determine the significance of pathogenic mutations in these genes as the cause of CMT2 in Czech patients. In the course, we identified causal variants in the genes MORC2 and SOD1 with WES. Therefore, we have tested additional CMT2 patients for the presence of these variants. Using Sanger sequencing, I examined a representative set of patients for the DNM2 (37), GARS (10) and TRPV4 (24) genes without finding a causal mutation, then we investigated genes SOD1 (43 patients) and MORC2 (161 patients). The cohort (50 patients) was also subjected to MLPA analysis using a P406-A1 CMT2 duplication and deletion detection kit for genes RAB7A, GARS, HSPB1, HSBP8 and SPTLC1 (kit P406-A1 CMT2). At that time, massively parallel sequencing (MPS) was becoming important. We compared the cost of classical sequencing versus MPS, and accordingly, we decided that the genes DNM2, GARS, MORC2, TRPV4..

Swedish foreign Policy in the Sandinista Nicaragua

Katedra politologieDepartment of Political ScienceFaculty of Social SciencesFakulta sociálních vě

Swedish foreign Policy in the Sandinista Nicaragua

Katedra politologieDepartment of Political ScienceFaculty of Social SciencesFakulta sociálních vě

Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type

Examination of the genes DNM2, GARS, MORC2, TRPV4 and SOD1 among Czech patients with hereditary neuropathy axonal type For my PhD thesis I chose to work with patients with axonal form of CMT, because at that time axonal forms were less likely to be clarified by classical methods of molecular genetics. For further examination in patients with unclear cause of the axonal CMT, the genes DNM2, GARS and TRPV4 were selected. The aim was to determine the significance of pathogenic mutations in these genes as the cause of CMT2 in Czech patients. In the course, we identified causal variants in the genes MORC2 and SOD1 with WES. Therefore, we have tested additional CMT2 patients for the presence of these variants. Using Sanger sequencing, I examined a representative set of patients for the DNM2 (37), GARS (10) and TRPV4 (24) genes without finding a causal mutation, then we investigated genes SOD1 (43 patients) and MORC2 (161 patients). The cohort (50 patients) was also subjected to MLPA analysis using a P406-A1 CMT2 duplication and deletion detection kit for genes RAB7A, GARS, HSPB1, HSBP8 and SPTLC1 (kit P406-A1 CMT2). At that time, massively parallel sequencing (MPS) was becoming important. We compared the cost of classical sequencing versus MPS, and accordingly, we decided that the genes DNM2, GARS, MORC2, TRPV4..

The relationship of Judaism and Christianity in the Middle Ages

Ve své diplomové práci se věnuji vztahu judaismu a křesťanství ve středověku. Křesťané pronásledovali Židy, diskriminovali je ve všech směrech a pořádali proti nim pogromy. Cílem diplomové práce je analýza příčin ovlivňujících vztahy mezi judaismem a křesťanstvím v průběhu středověku.Katedra filozofieObhájenoThis master thesis deals with the relationship between Judaism and Christianity in the Middle Ages. Christians persecuted Jews, discriminating them in all kinds of ways and organizing pogroms against them. The goal of this thesis is to analyze the causes influencing the relations between Judaism and Christianity during the Middle Ages

Additional file 1: of Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Part I Age distribution among patients, first box plot is age of seizure onset, second age of inclusion into study. Part II List off all genes included in panel. Part III Process of CNV analysis. Part IV List of variants of uncertain significance or likely benign found in our cohort. Part V. Part VI Advantages of the gene panel testing. (DOCX 150 kb