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  • Books  (7)
  • Medical genetics.  (7)
  • Cham :Springer International Publishing :  (7)
  • 610.72  (7)
  • 1
    Online Resource
    Online Resource
    Cham :Springer International Publishing :
    Keywords: Medicine Research. ; Biology Research. ; Pharmacology. ; Medical genetics. ; Cancer. ; Lipids. ; Biomedical Research. ; Pharmacology. ; Medical Genetics. ; Cancer Biology. ; Lipidology.
    Description / Table of Contents: Preface -- Introduction of Druggable Lipid Signaling Pathway -- Biosynthetic Enzymes of Membrane Glycerophospholipid Diversity as Therapeutic Targets for Drug Development -- Druggable Prostanoid Pathway -- Targeting Leukotrienes as a Therapeutic Strategy to Prevent Comorbidities Associated with Metabolic Stress -- Epoxy Fatty Acids are Promising Targets for Treatment of Pain, Cardiovascular Disease and Other Indications Characterized by Mitochondrial Dysfunction, Endoplasmic Stress and Inflammation -- Druggable Sphingolipid Pathway -- Druggable Lysophospholipid Pathway -- Druggable targets in endocannabinoid signaling -- Drugging the phosphoinositide 3-kinase (PI3K) and phosphatidylinositol 4-kinase (PI4K) family of enzymes for treatment of cancer, immune disorders, and viral/parasitic infections -- Druggable Lipid GPCRs: Past, Present, and Prospects. .
    Abstract: This edited work presents a series of reviews focusing on Druggable Lipid Signaling Pathways. It enables researchers in both academic institutions and industry as well as physicians to understand historical aspects of lipid signaling and future directions of drug discovery targeting lipid signaling pathways. This book provides 9 pathways including acyltransferases, prostanoids, leukotrienes, epoxy fatty acids, sphingolipids, lysophospholipids, endocannabinoids, phosphoinositides, and lipid GPCRs. Readers will discover the importance of each lipid signaling pathway that contributes to broad range of diseases including neurological and neuropsychiatric diseases, pain, metabolic syndromes, cardiovascular diseases, cancer, dermatological diseases, fibrosis, inflammation, etc. Also, readers will recognize that many drugs targeting lipid signaling have been clinically used. Drugs currently under development are also discussed in each chapter, which includes some information about clinical trials and strategic drug designs. .
    Type of Medium: Online Resource
    Pages: VI, 260 p. 33 illus., 21 illus. in color. , online resource.
    Edition: 1st ed. 2020.
    ISBN: 9783030506216
    Series Statement: Advances in Experimental Medicine and Biology, 1274
    DDC: 610.72
    Language: English
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  • 2
    Online Resource
    Online Resource
    Cham :Springer International Publishing :
    Keywords: Medicine Research. ; Biology Research. ; Medical genetics. ; Physiology. ; Internal medicine. ; Biomedical Research. ; Medical Genetics. ; Physiology. ; Internal Medicine.
    Description / Table of Contents: Basic structure, physiology and biochemistry of connective tissues and extracellular matrix collagens -- Tendon Extracellular Matrix Assembly, Maintenance and Dysregulation Throughout Life -- Basic Components of Connective Tissues and Extracellular Matrix: Fibronectin, Fibrinogen, Laminin, Elastin, Fibrillins, Fibulins, Matrilins, Tenascins and Thrombospondins -- Proteoglycans and Diseases of Soft Tissues -- Growth Factor Roles in Soft Tissue Physiology and Pathophysiology -- Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling -- The Pathophysiology and Pathogenesis of Marfan Syndrome -- Ehlers-Danlos syndromes, joint hypermobility and hypermobility spectrum disorders -- Ehlers–Danlos Syndrome Associated with Glycosaminoglycan Abnormalities -- Loeys-Dietz Syndrome -- Meester-Loeys syndrome -- Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis -- Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy -- Connective Tissue Disorders in Domestic Animals.
    Abstract: This volume represents a substantially revised and updated 2nd edition of a reference handbook on major structural components of soft connective tissues and a whole slew of heritable diseases of soft connective tissues. The number of clearly identifiable and distinct disorders has grown somewhat since the 1st edition in 2014, e.g., Ehlers-Danlos syndrome has now 13 entities. A brand new syndrome, Meester Loeys syndrome carrying the name of Bart Loeys was added as a companion to Loeys-Dietz syndrome. Numerous variations of cutis laxa and joint mobility disorders have been discovered taking advantage of recent advancements in genetic analysis. We have acquired better understanding of pathogenesis and biochemical changes in some other, more established entities, such as Marfan and collagen VI myopathies where better management and possible treatment are on the horizon. Even in the case of connective tissue diseases in domestic animals some progress has been made. All these updates were contributed by a group of distinguished and preeminent physicians and scientists, all of them not just working in the field but making new discoveries described by them. Readers will notice that seemingly there is an overlap among many of these disorders. And indeed, many of them, if not most are interconnected because of the prominent roles of TGFβ, of fibrillin microfibrils and collagen fibril assembly (and other molecules) playing in connective tissues physiology, and by extension in pathogenesis of many disorders described in the book. What I found particularly helpful that author(s) of each chapter bring their own perspective even when described closely related mechanism of the disease. These observations should help with diagnosis and management of such cases. The first chapters are more general, concentrating more on the physiology, structure and biochemistry of normal soft tissues. That should help in better understanding of the pathophysiology. Last but not least, the chapters are very readable, more like detective stories than dry description of genetic/biochemical defects. I do hope that basic scientists and clinicians with similar and diverse interests alike will appreciate this volume and will be inspired by it to develop their research in the field.
    Type of Medium: Online Resource
    Pages: IX, 343 p. 1 illus. , online resource.
    Edition: 2nd ed. 2021.
    ISBN: 9783030806149
    Series Statement: Advances in Experimental Medicine and Biology, 1348
    DDC: 610.72
    Language: English
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  • 3
    Online Resource
    Online Resource
    Cham :Springer International Publishing :
    Keywords: Medicine Research. ; Biology Research. ; Medical genetics. ; Cytology. ; Lipids. ; Biomedical Research. ; Medical Genetics. ; Cell Biology. ; Cell Biology. ; Lipidology.
    Description / Table of Contents: Foreword -- Ferroptosis: Concepts and Definitions -- Overcoming Therapeutic Challenges for Pancreatic Ductal Adenocarcinoma with xCT inhibitors -- Iron Homeostasis and Metabolism: Two Sides of a Coin -- The Role of NCOA4-mediated Ferritinophagy in Ferroptosis -- Emerging Role for Ferroptosis in Infectious Diseases -- Small Molecule Regulators of Ferroptosis -- Necroptosis, The other main Caspase-Independent Cell Death.
    Abstract: This book focuses on the emerging role of ferroptosis in human diseases. It gives a detailed perspective on how to induce or suppress ferroptosis to treat challenging conditions such as infectious diseases, including COVID-19, tuberculosis, parasitic diseases and cancer. The book serves as a practical guide by providing a valuable collection of all currently known activators or inhibitors of ferroptosis. It will enable readers to choose molecules for experimental design for in vitro and in vivo studies of ferroptosis. Furthermore, this volume highlights the aspects of iron metabolism and its connection to ferritinophagy, a ferritin selective autophagy, with profound implications in neurodegenerative diseases such as Alzheimer, Parkinson, Huntington and ALS. Lastly, it describes necroptosis, another important form of cell death, along with its connections to human disorders and potential crosstalk with ferroptosis. While covering basic concepts, the book delves into mechanisms and modulation of ferroptosis for treating a wide variety of human diseases thus offering a valuable and informative resource for both, scientists and clinical researchers.
    Type of Medium: Online Resource
    Pages: IX, 140 p. 37 illus., 33 illus. in color. , online resource.
    Edition: 1st ed. 2021.
    ISBN: 9783030620264
    Series Statement: Advances in Experimental Medicine and Biology, 1301
    DDC: 610.72
    Language: English
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  • 4
    Online Resource
    Online Resource
    Cham :Springer International Publishing :
    Keywords: Medicine Research. ; Biology Research. ; Medical genetics. ; Immunology. ; Dermatology. ; Biomedical Research. ; Medical Genetics. ; Immunology. ; Biomedical Research. ; Dermatology.
    Description / Table of Contents: Genetics control of immune responses -- Non-melanoma skin cancer -- Melanoma -- Psoriasis -- Atopic dermatitis -- Contact dermatitis -- Lichen planus -- Pemphigus and pemphigoids -- Morphea and Lichen Sclerosus -- Granuloma annulare and Necrobiosis lipoidica -- Alopecia areata -- Vitiligo -- Acne Vulgaris and Rosacea -- Urticaria and Angioedema -- Cutaneous drug reaction -- Photodermatologic disorders -- Infantile Haemangioma and other vascular malformations.
    Abstract: This book intends to investigate the broad spectrum of genetic changes in immunological processes involved in cutaneous diseases. One of the main goals of immunogenetic studies is finding susceptibility genes for complex diseases. This can provide an insight into the pathogenesis of the condition in a way that is not easily achievable through other kinds of studies. Thus they are a rational initial step for generating hypotheses about disease pathogenesis. This may especially benefit dermatology, a field notorious for having too many diseases with unknown etiologies. Immunogenetic investigations have made targeted treatment strategies possible for diseases such as psoriasis and pemphigus. Even though these strategies have revolutionized the management of chronic dermatological conditions such as psoriasis, still there are a lot of unanswered questions. For instance, psoriasis patients respond very differently to each of the commercially available biological agents. This diversity could be partially explained by the differences in the sets of genes responsible for disease induction in each individual. Thus whole genome sequencing strategies, if feasible at individual levels, might help in tailoring these targeted treatments based on specific genetic backgrounds. Our intention in preparing this book was to explore the broad spectrum of the genetic aspects of immunological processes involved in cutaneous diseases. We have tried to cover most areas of dermatology where enough studies were available to gather a chapter. Still, there is a substantial lack of knowledge on the immunogenetics of many dermatological conditions. We hope that this book would encourage the investigators to fill these gaps of knowledge.
    Type of Medium: Online Resource
    Pages: XXI, 450 p. 64 illus., 62 illus. in color. , online resource.
    Edition: 1st ed. 2022.
    ISBN: 9783030926168
    Series Statement: Advances in Experimental Medicine and Biology, 1367
    DDC: 610.72
    Language: English
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  • 5
    Keywords: Medicine Research. ; Biology Research. ; Biochemistry. ; Internal medicine. ; Lipids. ; Bioinformatics. ; Medical genetics. ; Biomedical Research. ; Chemical Biology. ; Internal Medicine. ; Lipidology. ; Computational and Systems Biology. ; Medical Genetics.
    Description / Table of Contents: Sterols from the post-lanosterol part of cholesterol synthesis – novel signaling players -- Genetic variability in cholesterol metabolism -- Side-chain oxidized oxysterols in health and disease -- Bile acids and TGR5 (Gpbar1) signaling -- Bile acids as regulatory signalling molecules -- Oxysterols and bile acid act as signaling molecules that regulate cholesterol homeostasis: nuclear receptors LXR, FXR, and fibroblast growth factor 15/19 -- Cytochrome P450 Metabolism Leads to Novel Biological Sterols and Other Steroids.
    Abstract: This book provides a comprehensive description of sterols and their novel biological roles in mammalian signaling, the book covers their biosynthesis and structure, describes sterol receptor -mediated actions, their tissue distribution and their role in disease. It offers insight into new research findings, focusing specifically on novel discoveries in bile acid and oxysterol signaling, including the lanosterol-to-cholesterol intermediates. Special attention is paid on the sex distribution of these sterols (male or female) and their sexually dimorphic roles in mammalian species, such as human, rat and mouse. Since sterols and drugs (xenobiotics) use many identical receptor-mediated signaling pathways, the book will be interesting for researchers working on the cross-road of endogenous and xenobiotic metabolism, it is intended for advanced students and scientists in molecular biology and biochemistry as well as medical doctors in hepatology.
    Type of Medium: Online Resource
    Pages: V, 171 p. 57 illus., 14 illus. in color. , online resource.
    Edition: 1st ed. 2020.
    ISBN: 9783030396848
    DDC: 610.72
    Language: English
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  • 6
    Keywords: Medicine Research. ; Biology Research. ; Medical genetics. ; Biomedical Research. ; Biomedical Research. ; Biomedical Research. ; Medical Genetics.
    Description / Table of Contents: Chaptre 1. Brain and Spinal Cord Tumors Among the Life-Threatening Health Problems: An Introduction -- Chaptre 2. Epidemiology of Brain and Spinal Cord Tumors -- Chaptre 3. The Role of Neuro-inflammation and Innate Immunity in Pathophysiology of Brain and Spinal Cord Tumors -- Chaptre 4. The Role of Cellular Immunity and Adaptive Immunity in Pathophysiology of Brain and Spinal Cord Tumors -- Chaptre 5. Immunotherapy as a New Therapeutic Approach for Brain and Spinal Cord Tumors -- Chaptre 6. Cell of Origin of Brain and Spinal Cord Tumors -- Chaptre 7. The Role of Bioinformatics and Imaging Models in Tumorigenesis and Treatment Response of Brain and Spinal Cord Neoplasms -- Chaptre 8. The Role of Epigenetics in Brain and Spinal Cord Tumors -- Chaptre 9. Stem Cells and Targeted Gene Therapy in Brain and Spinal Cord Tumors -- Chaptre 10. Nutrition and Diet: A Double-Edged Sword in Development and Treatment of Brain Tumors -- Chaptre 11. The Role of Nanotechnology in Brain Tumors -- Chaptre 12. The Role of Nanotechnology in Spinal Cord Tumors -- Chaptre 13. The Economic Burden of Malignant Brain Tumors.
    Abstract: Brain tumors comprise about 5–9% of all human neoplasms; and interestingly the central nervous system (CNS) neoplasms are ranked among the most prevalent neoplasms of childhood as well. Besides to the morphologic and histopathologic characteristics, and as each pathologic states first starts with molecular alterations, each tumor may have its own story in the matter of activating tumorigenesis pathways and having specific molecular characteristics. Importantly, the molecular classification of tumors has been highly considered in the past few decades for taking the most appropriate therapeutic approach. On the other hand, the tumors shall have tumor-scape mechanisms preventing the immunologic system to eliminate its invasion. The failure of innate and acquired immune system to defeat tumorigenesis mechanisms would consequently result in tumor development. Interestingly, the neuro-immunologic mechanism plays a role in development of psychiatric manifestations of brain tumors as well. Taking all these to account, the different arms of innate immunity, acquired immunity, and genetics have been approached to defeat development and/or progression of such tumors. Accordingly, the activation immunotherapeutic approaches focus on activating or strengthening the anti-tumor immunologic pathways in order to assist the weakened immune system to defeat the tumor (such as Dendritic cell vaccination, DNA vaccines, peptide vaccines, viral vector-based vaccines, monoclonal antibodies, and CAR T-cell therapy). In addition to immunologic components of brain and spinal cord tumors, numerous genes and genetic pathways have been recognized to take part in tumorigenesis. Taking these non-immune genetic pathways to account, some other therapeutic approaches such as stem cell therapy and gene therapy have been developed in the new era of cancer treatment. Moreover, and besides the biologic and medical aspects of these tumors, different physical/mathematical models have been proposed to either explain or predict tumor behavior. Such models would be advantageous in developing new therapeutic modalities in pre-clinical stages and enter new eras in cancer treatment. The first book of Human Brain and Spinal Cord Tumors, Neuro-immunology and Neuro-genetics, will mainly discuss the neuro-immunology and neurogenetic pathways associated with development of brain and spinal cord tumor. After a short introduction chapter, this book will focus on the role of innate and acquired immunity on development of these tumors and then the immunotherapeutic approaches to defeat these tumorigenesis mechanisms. This book will then focus on genetic aspects of brain and spinal cord tumors and bioinformatics models to describe the behavioral patterns of these tumors, as well as associated therapeutic approaches such as stem cell therapy and gene therapy. This volume of book could be useful for experts in basic sciences, mainly geneticists and immunologists, and also physicians of different specialties, mainly neurosurgeons, neurologists, neuropathologists and neuroradiologists.
    Type of Medium: Online Resource
    Pages: XX, 231 p. 30 illus., 16 illus. in color. , online resource.
    Edition: 1st ed. 2023.
    ISBN: 9783031147326
    Series Statement: Advances in Experimental Medicine and Biology, 1394
    DDC: 610.72
    Language: English
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  • 7
    Online Resource
    Online Resource
    Cham :Springer International Publishing :
    Keywords: Medicine Research. ; Biology Research. ; Medical genetics. ; Medical microbiology. ; Biomedical Research. ; Biomedical Research. ; Medical Genetics. ; Medical Microbiology.
    Description / Table of Contents: 1. Epithelial-mesenchymal transition and cancer stem cells -- 2. The transcription factors Zeb1 and Snail induce cell malignancy and can-cer stem cell phenotype in prostate cells, increasing androgen synthesis ca-pacity and therapy resistance -- 3. ERBB signaling pathway in cancer stem cells -- 4. Functional and molecular characters of cancer stem cells through devel-opment to establishment -- 5. Microenvironment in cancer stem cells -- 6. Cancer stem cells contribute to drug resistance in multiple different ways -- 7. Abnormal glycosylation in cancer cells and cancer stem cells as a thera-peutic target.
    Abstract: This book entitled “Cancer Stem Cell Markers and Related Network Path-ways” is about cancer stem cell (CSC) markers and the molecular network pathways. CSCs play an important role in the cancer drug resistance, metastasis and recurrence. Epithelial-mesenchymal transition (EMT) is closely related to CSC phenotype. This book covers various aspects of the molecular networks related to CSCs including the important phenotypic change such as EMT. Readers will discover the importance of the identification of CSC markers and EMT-related molecules in CSC network pathways. The CSC signaling pathways and EMT molecular network pathways attract researchers in the field to define the cancer therapeutic targets. Cancer environment is important in the acquisition of CSC phenotype in cells. The revealing of this CSC mystery is across 7 chapters. The topic of this book is particularly relevant to research in the field of cancer and stem cells, as well as the network pathways. We hope that this book helps the readers to be interested in understanding why the CSC concept is important and attractive.
    Type of Medium: Online Resource
    Pages: XIV, 156 p. 23 illus., 21 illus. in color. , online resource.
    Edition: 1st ed. 2022.
    ISBN: 9783031129742
    Series Statement: Advances in Experimental Medicine and Biology, 1393
    DDC: 610.72
    Language: English
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