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  • Medical genetics  (92)
  • Analytical Chemistry and Spectroscopy
  • Biochemistry and Biotechnology
  • Geophysics
  • Humans
  • IntechOpen  (96)
  • Woods Hole Oceanographic Institution  (27)
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  • 1
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    Gene Therapy (2021)
    IntechOpen | IntechOpen
    Details
    Publication Date: 2024-03-31
    Description: The aim of this book is to cover key aspects of existing problems in the field of development and future perspectives in gene therapy. Contributions consist of basic and translational research, as well as clinical experiences, and they outline functional mechanisms, predictive approaches, patient-related studies and upcoming challenges in this stimulating but also controversial field of gene therapy research. This source will make our doctors become comfortable with the common problems of gene therapy and inspire others to delve a bit more deeply into a topic of interest.
    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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    Mutations in Human Genetic Disease (2021)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.
    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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    Flow Cytometry (2021)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: "Flow Cytometry - Recent Perspectives" is a compendium of comprehensive reviews and original scientific papers. The contents illustrate the constantly evolving application of flow cytometry to a multitude of scientific fields and technologies as well as its broad use as demonstrated by the international composition of the contributing author group. The book focuses on the utilization of the technology in basic sciences and covers such diverse areas as marine and plant biology, microbiology, immunology, and biotechnology. It is hoped that it will give novices a valuable introduction to the field, but will also provide experienced flow cytometrists with novel insights and a better understanding of the subject.
    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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    Chromosomal Abnormalities (2021)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: Chromosomes are vital components of genetic material, and, as such, distruption or changes to the structure of chromosomes can result in different health problems and deficits. This book explains chromosomal abnomalities and their effects on living organisms, including humans and plants. Classical and molecular cytogenetics techniques have a considerable number of potential applications, especially in clinical trials and biomedical diagnosis, making them a strong and insightful complement to other molecular and genomic approaches. Chapters cover topics including Down syndrome, fetal ultrasounds, acute myeloid leukemia, and Phelan-McDermid syndrome, among others.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 5
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    Point Mutation (2021)
    IntechOpen | IntechOpen
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    Publication Date: 2024-03-31
    Description: This book concerns the signatures left behind in chromosomes by the forces that drive DNA code evolution in the form of DNA nucleotide substitutions. Since the genetic code predetermines the molecular basis of life, it could have been about any aspect of biology. As it happens, it is largely about recent adaptation of pathogens and their human host. Nine chapters are medically oriented, two are bioinformatics-oriented and one is technological, describing the state of the art in synthetic point mutagenesis. What stands out in this book is the increasing rate at which DNA data has been amassed in the course of the past decade and how knowledge in this vibrant research field is currently being translated in the medical world.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 6
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    Mutagenesis and Mitochondrial-Associated Pathologies (2022)
    IntechOpen | IntechOpen
    Details
    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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  • 7
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    Reviews on Selected Topics of Telomere Biology (2021)
    IntechOpen | IntechOpen
    Details
    Publication Date: 2024-03-31
    Description: Telomeres, located at the ends of linear chromosomes, are essential for genome stability and integrity. Advances in telomere researches have linked telomere dysfunction with cellular aging and a number of age-related human diseases. Recent studies further expanded our knowledge of telomere functions - telomeres are shown to be important for microbial pathogen virulence and telomere proteins have important non-telomeric cellular functions. This book includes current opinions on selected aspects of telomere research and their implication, in hope to help us focus better on future studies and enhance our research progress.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 8
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    Molecular Mechanisms of the Aging Process and Rejuvenation (2021)
    IntechOpen | IntechOpen
    Details
    Publication Date: 2024-03-31
    Description: Numerous studies had been performed to elucidate the mechanisms of aging and to achieve rejuvenation, with some success reported in recent years. However, at present, the findings from those studies are not sufficient to resolve the issue of aging. This book presents an overview of recent topics on cellular aging and rejuvenation. In the early chapters, the molecular mechanisms of aging via the activities of clock and ion channel proteins, in addition to overall aspects, are discussed. In the latter part, the aging of the skin, immune system, and brain is discussed. This book will prove useful for those studying or developing new drugs to counter the aging process and will encourage the development of novel ideas for rejuvenation.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 9
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    Viral Gene Therapy (2021)
    IntechOpen | IntechOpen
    Details
    Publication Date: 2024-03-31
    Description: The development of technologies that allow targeting of specific cells has progressed substantially in recent years for several types of vectors, particularly viral vectors, which have been used in 70% of gene therapy clinical trials. Particular viruses have been selected as gene delivery vehicles because of their capacities to carry foreign genes and their ability to efficiently deliver these genes associated with efficient gene expression. This book is designed to present the most recent advances in viral gene therapy
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 10
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    Antisense Therapy (2021)
    IntechOpen | IntechOpen
    Details
    Publication Date: 2024-03-31
    Description: Antisense Therapy offers a comprehensive, state-of-the art perspective on the role of antisense therapy in the treatment of human disease, with a special focus on cancer. Use of antisense oligonucleotides is a growing field of pharmaceutical and biotech companies and research programs for treatment of several diseases. This book summarizes and presents the best updates, therapeutic principles, methods, and applications in the field and offers meaningful information to move treatment discovery forward.
    Keywords: Medical genetics ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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