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DNA is the most important biomolecule ever discovered. Indeed, this molecule bears genetic information from one generation to another. In this regard, DNA bases have a key role in transferring genetic information and data safely. However, there are cellular, genetic, and environmental factors that may damage the different parts of DNA molecules. These damages may result in mutations and cell death. As such, several DNA repair mechanisms have evolved. Over three sections, this book examines many of these mechanisms.

Medical genetics.

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Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.

Medical genetics.

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Treatment risk and response to therapy prediction can be forecasted through early diagnosis, which improves prognosis reliability and effectiveness of therapies. This book covers contemporary advances in molecular markers, disease-causing variants, retroelements, and the basis of distinct diseases.

Medical genetics. --- Molecular biology.

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Treatment risk and response to therapy prediction can be forecasted through early diagnosis, which improves prognosis reliability and effectiveness of therapies. This book covers contemporary advances in molecular markers, disease-causing variants, retroelements, and the basis of distinct diseases.

Medical genetics. --- Molecular biology.

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"The methodological book "Laboratory techniques in cellular and molecular medicine" is intended for students of bachelor, master, and doctoral study programmes at faculties of science, medicine, and veterinary medicine, as well as for laboratory technicians interested in methodological approaches of contemporary cellular and molecular medicine. The book does not aim to provide a comprehensive overview of the current state of the art in cellular and molecular medicine, that would be a superhuman task. The aim of the 56-member author team is to provide readers with an overview of the methods established and tested at the Institute of Molecular and Translational Medicine of the Faculty of Medicine of Palacký University Olomouc - to describe the methodological principles and their practical application. It focuses both on basic methods, whose principles are used by the most modern methods, and on special methods, reflecting the laboratory experience and specialisation of individual authors. The 52 chapters describe the work with cells and microorganisms, bioengineering manipulations of nucleic acids, the search for biomarkers, detection at the level of DNA, RNA, protein, organelle, and whole cell, and the use of fluorescent and radioactive labeling. To aid comprehension, the description of the methods is illustrated by figures and diagrams. Each chapter is followed by troubleshooting tips. The book promotes the best laboratory practice to increase the reproducibility of results in biomedicine."-- Provided by publisher.

Medical genetics --- Moral and ethical aspects.