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  • Bücher  (8)
  • Medicine Research.  (5)
  • Genetics.  (3)
  • DD1-905
  • Cham :Springer International Publishing :  (8)
  • De Gruyter
  • München : Beck
  • 616.042  (8)
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  • Bücher  (8)
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  • 1
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Genetics. ; Biotechnology. ; Medical Genetics. ; Genetics and Genomics. ; Chemical Bioengineering.
    Beschreibung / Inhaltsverzeichnis: Section I: The physiology of the gene/environment interaction -- Nutrition -- Physical Exercise -- Circadian Rhythm -- Toxicants: Smoke, Alcohol and Heavy Metals -- Hormones -- Section II: Gene-Environment Interaction and Disease Susceptibility -- Obesity and Metabolic Syndromes -- Cancer -- Neurological and Psychiatric Disorders -- Asthma and allergic disorders -- Lamarck Versus Darwin: The Concept of Aquired Epigenetic Inheritance -- Section III: Genome/Epigenome -- Genetic Contribution to Epigenetic Inheritance -- The Controversial Role of DNA Methylation in Epigenetic Inheritance -- Small Non-Coding RNAs -- Chromatin Modifiers -- Soma-to-Germline Information Transfer: Questions and Promises.
    Kurzfassung: The genotype/phenotype dichotomy is being slowly replaced by a more complex relationship whereby the majority of phenotypes arise from interactions between one’s genotype and the environment in which one lives. Interestingly, it seems that not only our lives, but also our ancestors’ lives, determine how we look. This newly recognized form of inheritance is known as (epi)genetic, as it involves an additional layer of information on top of the one encoded by the genes. Its discovery has constituted one of the biggest paradigm shifts in biology in recent years. Understanding epigenetic factors may help explain the pathogenesis of several complex human diseases (such as diabetes, obesity and cancer) and provide alternative paths for disease prevention, management and therapy. This book introduces the reader to the importance of the environment for our own health and the health of our descendants, sheds light on the current knowledge on epigenetic inheritance and opens a window to future developments in the field.
    Materialart: Online-Ressource
    Seiten: VIII, 266 p. 11 illus., 10 illus. in color. , online resource.
    Ausgabe: 1st ed. 2020.
    ISBN: 9783030352134
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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  • 2
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Human physiology. ; Cytology. ; Medicine Research. ; Biology Research. ; Medical Genetics. ; Human Physiology. ; Cell Biology. ; Biomedical Research.
    Beschreibung / Inhaltsverzeichnis: Preface -- Tissue-specific cell signaling: introduction -- Beyond the brain signaling -- Cell signaling within pituitary, the master gland of the endocrine system -- Cell signaling within endocrine glands: thyroid, parathyroids and adrenal glands -- Signaling pathways governing activation of innate immune cells -- Cell activation and signaling in lymphocytes -- Signaling pathways involved in kidney and urinary tract physiology and pathology -- More than androgens: hormonal and paracrine signaling in prostate development and homeostasis -- Testicular signaling: team work in sperm production -- Sperm signaling specificity: from sperm maturation until oocyte recognition -- Hormone signaling pathways in the postnatal mammary gland -- Oogenesis signaling: from development to environmental plasticity and aging -- Key signaling pathways in the cardiovascular system -- Growth factor signaling in the maintenance of adult lung homeostasis -- The signaling pathways involved in the regulation of skeletal muscle plasticity -- Adipocyte-specific signaling.
    Kurzfassung: Signal transduction comprises the intracellular biochemical signals which induce the appropriate cell response to an external stimulus. The players in signal transduction are diverse, from small molecules as first messengers, to proteins, receptors, transcription factors, among many others. The different signaling pathways and the crosstalk between them originates the unique signaling profile of every cell type in the human body. The cell signaling specificity depends on several aspects including protein composition, subcellular localization and complexes and gene promoters. This textbook provides a comprehensive overview of the specific signaling pathways on a variety of human tissues. This information can be of great value for health science researchers, professionals and students to understand key pathways for tissue-specific functions in the plethora of signals, signals receptors, transducers and effectors. Chapter 3 and 15 are available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
    Materialart: Online-Ressource
    Seiten: XVIII, 436 p. 51 illus., 50 illus. in color. , online resource.
    Ausgabe: 1st ed. 2020.
    ISBN: 9783030444365
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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  • 3
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Medicine Research. ; Biology Research. ; Pharmacology. ; Medical Genetics. ; Medical Genetics. ; Biomedical Research. ; Pharmacology.
    Beschreibung / Inhaltsverzeichnis: 1: Li-Fraumeni Syndrome -- 2: Pediatric Central Nervous System Cancer Predisposition -- 3: Rhabdoid Tumors -- 4: Neurofibromatosis -- 5: Pheochromocytoma and Paraganglioma syndromes -- 6: Wilms tumor -- 7: Hereditary Overgrowth Syndromes -- 8: Multiple Endocrine Neoplasias and Associated Non-Endocrine Conditions -- 9: DICER1 Syndrome -- 10: Cancer-prone Inherited Bone Marrow Failure, Myelodysplastic and Acute Myeloid Leukemia Syndromes -- 11: Inherited Risk for Childhood Leukemia -- 12: Inherited pediatric cancer in low and intermediate resource countries -- 13: Frontline Ethico-legal Issues in Childhood Cancer Genetics Research -- 14: Genetic counseling and testing -- 15: Psychosocial aspects of childhood cancer genetics -- 16: Recognition of cancer predisposition syndromes.
    Kurzfassung: This volume elaborates on the research and clinical implications of the hereditary and molecular basis of childhood cancers. The focus of the ‘disease-related’ chapters of the book is to integrate what is known about the molecular basis of that particular clinical entity (or group of related entities) with the clinical manifestations, to relate the relationship of the molecular oncologic pathways with relevant developmental or non-human species biology in order to better understand the complexity of these systems. The resulting clinical implications of understanding this biology are elaborated on. Chapters 13-16 discuss the broader psychosocial, ethical and genetic counseling issues that arise and that are so critical to translating the knowledge gained from advances in molecular genetics into the clinic. Chapter 12 in particular provides a unique perspective of the application of this knowledge in less-developed nations where ‘modern’ technologies may not be readily available, but where the clinical manifestations of these disorders are prevalent.
    Materialart: Online-Ressource
    Seiten: XI, 491 p. 52 illus., 30 illus. in color. , online resource.
    Ausgabe: 1st ed. 2021.
    ISBN: 9783030744489
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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  • 4
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Stem cells. ; Medicine Research. ; Biology Research. ; Biotechnology. ; Medical Genetics. ; Stem Cell Biology. ; Biomedical Research. ; Biotechnology.
    Beschreibung / Inhaltsverzeichnis: Chapter 1: Introduction: a decade teaching stem cell biology -- Chapter 2: Preimplantation development: from germ cells to blastocyst -- Chapter 3: Origins of pluripotency: from stem cells to germ cells -- Chapter 4: Human induced pluripotent stem (hiPS) cells: generation and applications -- Chapter 5: Cellular reprogramming and aging -- Chapter 6: Cloning -- Chapter 7: Stem cells in plant development -- Chapter 8: Axial stem cells and the formation of the vertebrate body -- Chapter 9: Skeletal muscle development - from stem cells to body movement -- Chapter 10: Cardiac regeneration and repair: from mechanisms to therapeutic strategies -- Chapter 11: Reproducing human brain development in vitro: generating cerebellar neurons for modelling cerebellar ataxias -- Chapter 12: Neurotoxicology and disease modelling -- Chapter 13: Mesenchymal stem cells for cutaneous wound healing.
    Kurzfassung: This textbook will support graduate students with learning materials rich in the basic concepts of stem cell biology, in its most widespread and updated perspective. The chapters are conceived in a way for students to understand the meaning of pluripotency, the definition of embryonic stem cells and the formation of multicellular structures such as organoids together with the underlying principles of their epigenetic. This textbook also discusses adult stem cells and the potential use of these cells, in particular neural, mesenchymal, and several types of muscular cells, in biomedical research and clinical applications. This textbook represents a vital complement to the text on Essential Current Concepts of Stem Cell Biology, also published in the Learning Materials in Biosciences textbook series.
    Materialart: Online-Ressource
    Seiten: XXII, 267 p. 85 illus., 79 illus. in color. , online resource.
    Ausgabe: 1st ed. 2020.
    ISBN: 9783030439392
    Serie: Learning Materials in Biosciences,
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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  • 5
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Cancer. ; Medicine Research. ; Biology Research. ; Proteins . ; Proteins. ; Medical Genetics. ; Cancer Biology. ; Biomedical Research. ; Protein Biochemistry. ; Proteins.
    Beschreibung / Inhaltsverzeichnis: Preface: Dedication to Susan Lindquist -- Part I: Structure -- Structural and Biochemical properties of Hsp40/Hsp70 chaperone system -- The TRiC/CCT chaperonin and its role in uncontrolled proliferation -- Regulation of Hsf1 and the heat shock response -- Part II: Function -- Challenging proteostasis: Role of the chaperone network to control aggregation-prone proteins in human disease -- The multifaceted role of HSF1 in tumorigenesis -- Chaperome networks – redundancy and implications for cancer treatment -- Chaperones in the tumor microenvironment -- The impact of the ER unfolded protein response on cancer initiation and progression: Therapeutic implications -- Part III: Therapies -- The right tool for the job: an overview of Hsp90 inhibitors -- Lessons learned from proteasome inhibitors, the paradigm for targeting protein homeostasis in cancer -- Reflections and outlook on targeting HSP90, HSP70 and HSF1 in cancer: A personal perspective.
    Kurzfassung: Protein homeostasis, or “Proteostasis”, lies at the heart of human health and disease. From the folding of single polypeptide chains into functional proteins, to the regulation of intracellular signaling pathways, to the secreted signals that coordinate cells in tissues and throughout the body, the proteostasis network operates to support cell health and physiological fitness. However, cancer cells also hijack the proteostasis network and many of these same processes to sustain the growth and spread of tumors. The chapters in this book are written by world experts in the many facets of the proteostasis network. They describe cutting-edge insights into the structure and function of the major chaperone and degradation systems in healthy cells and how these systems are co-opted in cancer cells and the cells of the tumor microenvironment. The chapters also cover therapeutic interventions such as the FDA-approved proteasome inhibitors Velcade and Krypolis as well as other therapies currently under clinical investigation to disarm the ability of the proteostasis network to support malignancy. This compendium is the first of its kind and aims to serve as a reference manual for active investigators and a primer for newcomers to the field. This book is dedicated to the memory of Susan Lindquist, a pioneer of the proteostasis field and a champion of the power of basic scientific inquiry to unlock the mechanisms of human disease. The chapter “Reflections and Outlook on Targeting HSP90, HSP70 and HSF1 in Cancer: A Personal Perspective” is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
    Materialart: Online-Ressource
    Seiten: VIII, 182 p. 31 illus., 26 illus. in color. , online resource.
    Ausgabe: 1st ed. 2020.
    ISBN: 9783030402044
    Serie: Advances in Experimental Medicine and Biology, 1243
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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  • 6
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Cytology. ; Biochemistry. ; Medicine Research. ; Biology Research. ; Cancer. ; Medical Genetics. ; Cell Biology. ; Biochemistry. ; Biomedical Research. ; Cancer Biology.
    Beschreibung / Inhaltsverzeichnis: Preface -- Kinetic Milestones of Damage Recognition by DNA Glycosylases of the Helix–Hairpin–Helix Structural Superfamily -- Protein Engineering of DNA-Dependent Enzymes -- A Multifunctional Protein PolDIP2 in DNA Translesion Synthesis -- Impact of PARP1, PARP2 and PARP3 on the Base Excision Repair of Nucleosomal DNA -- Base Excision Repair in Chromatin and the Requirement for Chromatin Remodelling -- DNA Repair and Mutagenesis in Vertebrate Mitochondria: Evidence for Asymmetric DNA Strand Inheritance -- Mystery of Expansion: DNA Metabolism and Unstable Repeats -- The Detection of 8-Oxo-7,8-Dihydro-2′-Deoxyguanosine in Circulating Cell-Free DNA: A Step Towards Longitudinal Monitoring of Health -- Biotransformation and Toxicities of Aristolochic Acids -- Mechanisms of Sugar Beet Response to Biotic and Abiotic Stresses -- Studying ALS: Current Approaches, Effect on Potential Treatment Strategy.
    Kurzfassung: This volume is about DNA damage and repair. It covers recent advances in several important research areas of this rapidly expanding field, and does so at several levels, from individual molecules to organisms. The topics include mechanisms of damage recognition by DNA repair enzymes, chromatin response to DNA damage, special ways of mutagenesis, biomarkers of genotoxicity, and the integrated organism response to genotoxic and other kinds of stress. The book starts with two chapters about structural and mechanistic features of protein–DNA interactions that ensure fast and reliable discrimination between targets – be it DNA modifications or specific sequences – and non-targets. Examples of particular proteins and their function in repair regulation, translesion synthesis and chromatin remodeling are discussed in the following three chapters. Next, more attention is given to the mutagenic consequences of failed or aberrant DNA repair, particularly in mitochondria and in runs of trinucleotide repeats. Moving to a human health-oriented view, the book presents data on two kinds of lesions, the widely found 8-oxoguanine and the dietary genotoxic adducts with aristolochic acids, as biomarkers of general oxidative stress and specific exposure, respectively. Two final chapters are devoted to the interplay of multiple factors, including genotoxic stress, in the complex phenotypes in humans (amyotrophic lateral sclerosis ) and plants (abiotic stress response). This volume will be of significant interest for scientists working in the field of DNA repair as well as for the general biochemistry and molecular biology audience.
    Materialart: Online-Ressource
    Seiten: XVI, 220 p. 30 illus., 20 illus. in color. , online resource.
    Ausgabe: 1st ed. 2020.
    ISBN: 9783030412838
    Serie: Advances in Experimental Medicine and Biology, 1241
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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  • 7
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Biology Technique. ; Genetics. ; Medical Genetics. ; Experimental Organisms. ; Genetics and Genomics.
    Beschreibung / Inhaltsverzeichnis: Early eye development: Specification and Determination -- Generation of third dimension: Axial patterning in the developing Drosophila eye -- Catching the Next Wave: Patterning of the Drosophila eye by the Morphogenetic Furrow -- Ghost in the Machine- the Peripodail Epithelium -- Cell Polarity in Drosophila Retina -- Negative regulation for neural patterning in the Drosophila eye -- Adhesion and the cytoskeleton in the Drosophila pupaleye -- Drosophila eye as a model to study regulation of growth control: The discovery of size control pathways -- Drosophila cancer modeling using the eye imaginal discs -- Recent contributions of the Drosophila eye to unraveling the basis of neurodegeneration -- Genetic regulation of early eye development in non-dipteran insects -- Eyes for an eye: A comparative account on compound eye of Drosophila melanogaster with vertebrate eye -- Index.
    Kurzfassung: Drosophila melanogaster (fruit fly) is a highly versatile model with a genetic legacy of more than a century. It provides powerful genetic, cellular, biochemical and molecular biology tools to address many questions extending from basic biology to human diseases. One of the most important questions in biology is how a multi-cellular organism develops from a single-celled embryo. The discovery of the genes responsible for pattern formation has helped refine this question and has led to other questions, such as the role of various genetic and cell biological pathways in regulating the process of pattern formation and growth during organogenesis. The Drosophila eye model has been extensively used to study molecular genetic mechanisms involved in patterning and growth. Since the genetic machinery involved in the Drosophila eye is similar to humans, it has been used to model human diseases and homology to eyes in other taxa. This updated second edition covers current progress in the study of molecular genetic mechanisms of pattern formation, mutations in axial patterning, genetic regulation of growth, and more using the Drosophila eye as a model.
    Materialart: Online-Ressource
    Seiten: XIV, 368 p. 81 illus., 73 illus. in color. , online resource.
    Ausgabe: 2nd ed. 2020.
    ISBN: 9783030422462
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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  • 8
    Online-Ressource
    Online-Ressource
    Cham :Springer International Publishing :
    Schlagwort(e): Medical genetics. ; Molecular genetics. ; Genetics. ; Medical Genetics. ; Clinical Genetics. ; Molecular Genetics. ; Genetics and Genomics.
    Beschreibung / Inhaltsverzeichnis: 1. Gene and Cell therapy overview -- 2. Gene and Cell therapy history -- 3. Delivery systems for gene therapy -- 4. Stem-cells and tissue regeneration theories -- 5. Gene therapy strategies -- 6. Gene and cell therapy applications -- 7. Gene therapy clinical trials -- 8. Research in gene therapy: celllular and animal models -- 9. Future challenges in gene and cell therapy.
    Kurzfassung: This is a reference handbook for young researchers exploring gene and cell therapy. Gene therapy could be defined as a set of strategies modifying gene expression or correcting mutant/defective genes through the administration of DNA (or RNA) to cells, in order to treat disease. Important advances like the discovery of RNA interference, the completion of the Human Genome project or the development of induced pluripotent stem cells (iPSc) and the basics of gene therapy are covered. This is a great book for students, teachers, biomedical researchers delving into gene/cell therapy or researchers borrowing skills from this scientific field.
    Materialart: Online-Ressource
    Seiten: XI, 188 p. 67 illus., 66 illus. in color. , online resource.
    Ausgabe: 1st ed. 2020.
    ISBN: 9783030413330
    DDC: 616.042
    Sprache: Englisch
    Standort Signatur Erwartet Verfügbarkeit
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