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  • 1
    Online Resource
    Online Resource
    Cham :Springer International Publishing :
    Keywords: Medical genetics. ; Medicine Research. ; Biology Research. ; Pharmacology. ; Medical Genetics. ; Medical Genetics. ; Biomedical Research. ; Pharmacology.
    Description / Table of Contents: 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.
    Abstract: 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.
    Type of Medium: Online Resource
    Pages: XI, 491 p. 52 illus., 30 illus. in color. , online resource.
    Edition: 1st ed. 2021.
    ISBN: 9783030744489
    DDC: 616.042
    Language: English
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  • 2
    Online Resource
    Online Resource
    Cham :Springer International Publishing :
    Keywords: Medical genetics. ; Diagnosis. ; Bioethics. ; Medical Genetics. ; Diagnosis. ; Bioethics.
    Description / Table of Contents: Genetic Testing, Some Themes and Some Basics -- Autosomal Dominant Inheriance and Huntington Disease -- Autosomal Recessive Inheritance and Cystic Fibrosis -- X-linked Inheritance: a Question of Gender -- Genetics Testing in Cancer -- DNA Testing, Genes and Identity -- Out of Sequence: Genome-Scale Testing -- DNA Testing: Pulling the Strands Together.
    Abstract: Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
    Type of Medium: Online Resource
    Pages: XXII, 131 p. 17 illus., 13 illus. in color. , online resource.
    Edition: 1st ed. 2022.
    ISBN: 9783030855109
    DDC: 616.042
    Language: English
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  • 3
    Keywords: Medical genetics. ; Cancer. ; Medicine Research. ; Biology Research. ; Proteins . ; Proteins. ; Medical Genetics. ; Cancer Biology. ; Biomedical Research. ; Protein Biochemistry. ; Proteins.
    Description / Table of Contents: 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.
    Abstract: 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.
    Type of Medium: Online Resource
    Pages: VIII, 182 p. 31 illus., 26 illus. in color. , online resource.
    Edition: 1st ed. 2020.
    ISBN: 9783030402044
    Series Statement: Advances in Experimental Medicine and Biology, 1243
    DDC: 616.042
    Language: English
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