Social Network with Elements of Semantic Web

Tato práce se zabývá internetovými sociálními sítěmi a trendy v aktuálním vývoji sémantického webu. Popisuje vývoj webové aplikace - komunitního portálu, vystavěného na PHP. Aplikace obsahuje moduly pro prezentaci organizací a událostí strojově čitelným způsobem, s napojením na mapovací systém Google Maps.This thesis concerns Internet social network and trends in evolution of Semantic Web. It describes development of a web application - community portal, built on PHP. Application contains modules providing machine readable presentation of organizations profiles and events and is connected to Google Maps web mapping service.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Autosomal-dominant tubulo-interstitial kidney disease (ADTKD) encompasses a group of disorders characterized by renal tubular and interstitial abnormalities, leading to slow progressive loss of kidney function requiring dialysis and kidney transplantation. Mutations in UMOD, MUC1, and REN are responsible for many, but not all, cases of ADTKD. We report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Ultrasound and kidney biopsy revealed small dysplastic kidneys with cysts and tubular atrophy with secondary glomerular sclerosis, respectively. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1—c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly)—both affecting functionally important and conserved residues in SEC61. Both transiently expressed SEC6A1A variants are delocalized to the Golgi, a finding confirmed in a renal biopsy from an affected individual. Suppression or CRISPR-mediated deletions of sec61al2 in zebrafish embryos induced convolution defects of the pronephric tubules but not the pronephric ducts, consistent with the tubular atrophy observed in the affected individuals. Human mRNA encoding either of the two pathogenic alleles failed to rescue this phenotype as opposed to a complete rescue by human wild-type mRNA. Taken together, these findings provide a mechanism by which mutations in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease. We highlight protein translocation defects across the endoplasmic reticulum membrane, the principal role of the SEC61 complex, as a contributory pathogenic mechanism for ADTKD

Developmental disorders of the lens and anterior segment of the eye

The anterior segment of the eye includes the eyelids, eyelashes, tear film, cornea, conjunctiva, iris, pupil, ciliary body, chamber angle, and lens. Cataracts and anterior segment dysgenesis are a highly heterogeneous group of diseases exhibiting all types of Mendelian inheritance. The aim of this thesis was molecular genetic analysis of 51 patients from 23 families with congenital and early onset cataracts and/or anterior segment dysgenesis, using a modern as well as conventional methods, such as next-generation sequencing, direct sequencing, bioinformatic and functional analyses including the use of artificial splicing vectors. We identified 24 causal variants in the coding, non-coding and regulatory regions of the PAX6, FTL, FOXC1, PITX2, FOXE3, and CHRDL1 genes. We confirmed the role of the n.37C>T variant in MIR204 in the development of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma. Splicing assay confirmed pathogenic effect of two mutations on pre-mRNA splicing of the PAX6 gene. Establishing molecular genetics diagnosis improves patient counselling and their relatives in terms of the prognosis and risk of developing secondary glaucoma Key words: molecular-genetic diagnosis, anterior segment dysgenesis, next-generation sequencing,..

Využití tradičních přírodních materiálů ve výuce polytechnického vzdělávání na 1. stupni ZŠ

This final work deals with the topic of the use of traditional natural materials in the teaching of polytechnic education at the 1st stage of primary school. The introduction defines the goals and tasks of the final work. Its main goal is to create a set of ideas for teachers of the subject Practical Activities for the first stage of primary school, which will contribute to the development of pupils' creativity. The theoretical part is devoted to polytechnic education and creativity. It deals with technical literacy, technical thinking and defines creativity from the point of view of experts. Describes the educational area Man and the world of work. Individual components that are necessary for teaching planning, organizational forms of teaching, methods, principles and principles that are closely related. It also characterizes natural material and its division. In the practical part, eight didactic topics for working with natural materials for the subject Practical Activities are proposed. They are designed to develop the creativity and imagination of students and at the same time connect skills and knowledge from other subjects

Mucic in the castle in Jaroměřice nad Rokytnou in the time of Jan Adam Questenberk

Diplomová práce pojednává o době nebývalého kulturníhio rozkvětu na zámku v Karoměřicích nad Rokytnou a jednom z ranných období původní, české hudební tvorby v rámci Rakouské monarchie v první polovině 18.století.Mapuje tak život majitele panství, díky němuž se na Moravském venkově na nějaký čas usadil duch Vídeňského uměleckého života a vše, co k tomu z jeho strany bylo nutno podniknout. Práce se dále věnuje životu a tvorbě Františka Václava Míči autora první doložené čerské opery " O původu Jaroměřič". K tomu se také váže téma o roli a uplatnění českého jazyka na Jaroměřickém panství v této předobrozenecké době

Mucic in the castle in Jaroměřice nad Rokytnou in the time of Jan Adam Questenberk

This thesis takes a closer look at the prime time of original Czech music at the chateau in Jaroměřice, a small town situated in the south of Moravia region, the Czech Republic, in the first half of 18 century within the Habsburg monarchy. The thesis attempts to map the life of the Jaroměřice landlord to whom we are indebted for establishing the spirit of the Viennese eoayl court in this Moravian province. The thesis is also devoted to the life and works of františek Václav Míča who was the author of the first substantiated Czech opera About the origin of jaroměřice and it also touches the relevant theme of the role and assertion of the Czech lanquage in this place at the time preceding the revival era of the Czech celture

Synthesis and study of solvolytic reactions of substituted benzyl esters of N-phenylcarbamic acid

Byla připravena série substituovaných N-fenyl-O-benzylkarbamátu adicí substituovaných benzylalkoholů na odpovídající substituované fenylisokyanáty nebo reakcí benzylchloroformiátu a odpovídajícího anilinu. Spektrofotometricky byla studována solvolýza těchto látek za podmínek pseudoprvého řádu v roztocích hydroxidu a methanolu sodného. Bylo ověřeno složení produktů solvolýzy a byla provedena interpretace výsledků kinetických měření z hlediska možných mechanismů solvolýz.Katedra organické chemieDokončená práce s úspěšnou obhajobo

Customer tools ordering process concept

The master ‘s thesis focuses on the description and analysis of the ordering customer tools process in the company Mubea. The theoretical part is focused on processes, their improvement, description, and analysis. The practical part specifies the steps of the process and its shortcomings. The output is a process improvement proposal and evaluation of the benefits of the proposed changes