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  • 1
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    Mutagenesis and Mitochondrial-Associated Pathologies (2022)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: Reactive oxygen species (ROS) and DNA double-strand breaks can result from mitochondrial defects and external sources, such as ionizing radiation. If not repaired properly, pathogenic mutations are generated. Human diseases resulting from inherited mitochondrial defects manifest in organs that physiologically require a high level of ATP synthesis. These diseases are clinically challenging, but new experimental clinical therapies include gene editing and mitochondrial transplants. Pathogenic ROS-associated cellular damage includes DNA double-strand breaks, and mouse models are now available to study multiple repair pathways. This book discusses the clinical manifestations of mitochondrial diseases in both the eye and the kidney, and presents new insights into double-strand break repair pathways and developmental phenotypes of g-ray-associated ontogenic mutations of Drosophila melanogaste.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 2
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    Genetic Polymorphisms (2022)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: This book provides a glimpse into the dynamic process of genetic polymorphism by presenting studies carried out on different kinds of organisms at the DNA level or gene expression level. Chapters address such topics as genetic polymorphism in animals, gametocyte biomarkers, thrombotic disorders, prostate cancer, and more.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 3
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    Synthetic Genomics (2022)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: The current advances in sequencing, data mining, DNA synthesis, cloning, in silico modeling, and genome editing have opened a new field of research known as Synthetic Genomics. The main goal of this emerging area is to engineer entire synthetic genomes from scratch using pre-designed building blocks obtained by chemical synthesis and rational design. This has opened the possibility to further improve our understanding of genome fundamentals by considering the effect of the whole biological system on biological function. Moreover, the construction of non-natural biological systems has allowed us to explore novel biological functions so far not discovered in nature. This book summarizes the current state of Synthetic Genomics, providing relevant examples in this emerging field.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 4
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    Down Syndrome and Other Chromosome Abnormalities (2022)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: This book provides a concise yet comprehensive source of current information on Down syndrome and other chromosomal abnormalities. Research workers, scientists, medical graduates and paediatricians will find it an excellent source for reference and review. Key features of this book are as follows: • Mechanisms of aneuploidy. • Effect of sociodemographic factors on different congenital disorders. • Haematological malignancies and congenital heart disease in Down syndrome. • Prenatal screening, management and counselling to detect Down syndrome and other chromosomal abnormalities. While aimed primarily at research workers on Down syndrome and different types of chromosomal disorders, we hope that the appeal of this book will extend beyond the narrow confines of academic interest and be of interest to a wider audience, especially the parents and relatives of children suffering from Down syndrome and other chromosomal abnormality syndromes.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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