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Abstract: The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT signaling pathway appears to be straightforward. However, on closer examination, the factors influencing the JAK/STAT signaling activity, such as cytokine diversity, receptor profile, overlapping JAK and STAT specificity among non-redundant functions of the JAK/STAT complexes, positive regulators (e.g., cooperating transcription factors), and negative regulators (e.g., SOCS, PIAS, PTP), demonstrate the complexity of the pathway's architecture, which can be quickly disturbed by mutations. The JAK/STAT signaling pathway has been, and still is, subject of basic research and offers an enormous potential for the development of new methods of personalized medicine and thus the translation of basic molecular research into clinical practice beyond the use of JAK inhibitors. Gain-of-function and loss-of-function mutations in the three immunologically particularly relevant signal transducers STAT1, STAT3, and STAT6 as well as JAK1 and JAK3 present themselves through individual phenotypic clinical pictures. The established, traditional paradigm of loss-of-function mutations leading to immunodeficiency and gain-of-function mutation leading to autoimmunity breaks down and a more differentiated picture of disease patterns evolve. This review is intended to provide an overview of these specific syndromes from a clinical perspective and to summarize current findings on pathomechanism, symptoms, immunological features, and therapeutic options of STAT1, STAT3, STAT6, JAK1, and JAK3 loss-of-function and gain-of-function diseases
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This book is the first one written about the JAK/STAT pathway. The JAK (Janus Kinase) Protein tyrosine kinases are novel phosphotransferases absolutely required for cellular signalling downstream of non-catalytic cytokine receptors (amongst others). These molecules are components in pathways utilising the STAT (Signal Transducers and Activators of Transcription) transcription factors. The basic components of the JAK/STAT pathway are covered in detail, and the centre piece of the book is a guided tour of the pathway itself. An interesting addition to the book is the chapter on the use of Drosophila melanogaster as a genetic system to probe the pathway at the whole organism level. The book is targeted to researchers who have an interest in intracellular signalling.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys. Main causative genes of ADPKD are PKD1 and PKD2, encoding for polycystin-1 (PC1) and polycystin-2 (PC2) respectively. Those proteins are localized on primary cilia and function as mechanosensor in response to the fluid flow, translating mechanistic stimuli into calcium signaling. With mutations either of PKD1 or PKD2, hyper-activated renal tubular epithelial cell proliferation is observed, followed by disrupted calcium homeostasis and aberrant intracellular cyclic AMP (cAMP) accumulation. Increased cell proliferation with fluid secretion leads to the development of thousands of epithelial-lined, fluid-filled cysts in kidneys. It is also accompanied by interstitial inflammation, fibrosis, and finally reaching end-stage renal disease (ESRD). In human ADPKD, the age at which renal failure typically occurs is later in life, however no specific targeted medications are available to cure ADPKD. Recently, potential therapeutic targets or surrogate diagnostic biomarkers for ADPKD are proposed with the advances in the understanding of ADPKD pathogenesis, and some of them were attempted for clinical trials. Herein, we will summarize genetic and epi-genetic molecular mechanisms in ADPKD progression, and overview the currently available biomarkers or potential therapeutic reagents suggested.
Modern neuroscience research is inherently multidisciplinary, with a wide variety of cutting edge new techniques to explore multiple levels of investigation. This Third Edition of Guide to Research Techniques in Neuroscience provides a comprehensive overview of classical and cutting edge methods including their utility, limitations, and how data are presented in the literature. This book can be used as an introduction to neuroscience techniques for anyone new to the field or as a reference for any neuroscientist while reading papers or attending talks. - Nearly 200 updated full-color illustrations to clearly convey the theory and practice of neuroscience methods - Expands on techniques from previous editions and covers many new techniques including in vivo calcium imaging, fiber photometry, RNA-Seq, brain spheroids, CRISPR-Cas9 genome editing, and more - Clear, straightforward explanations of each technique for anyone new to the field - A broad scope of methods, from noninvasive brain imaging in human subjects, to electrophysiology in animal models, to recombinant DNA technology in test tubes, to transfection of neurons in cell culture - Detailed recommendations on where to find protocols and other resources for specific techniques - "Walk-through" boxes that guide readers through experiments step-by-step
Progress in Basic and Clinical Immunology is a result of the 14th European Immunology Meeting - EFIS 2000, held in Poznan, Poland, on 23-27 September 2000. EFIS 2000 gathered over 1400 immunologists from all over the world. It was an exceptionally memorable meeting for a number of reasons: 1) it was held in the last year of the century and the millennium, thus provoking conclusions of past achievements of immunology and projections for the future; 2) it was held in Poland, a country that is a symbol of struggle for freedom for a large number of scientists originating from the `Eastern Bloc' countries; and 3) EFIS celebrated its 25th anniversary at this occasion. This comprehensive volume contains 62 chapters grouped into 11 sections: T-cells, Immune Receptors, Antigen Presentation/Dendritic Cells, Cytokines, Immunodeficiencies, Autoimmunity, Allergy/Inflammation, Immunotherapy, Vaccines, Tumor Immunology, and Cancer Immunotherapy.
This monograph explores the relationships between cell signaling and the cytoplasmic cytoskeleton in fundamental cell processes, thus bridging the gap between two very active aspects of molecular cell biology. It covers the two main - and reciprocal - questions of these relationships: How are structure and function of the cytoskeleton affected by external signals which impinge on the cell? How does the cytoskeleton influence the cellular signaling processes which determine cell behavior?
"Fundamentals of Tissue Engineering and Regenerative Medicine" provides a complete overview of the state of the art in tissue engineering and regenerative medicine. Tissue engineering has grown tremendously during the past decade. Advances in genetic medicine and stem cell technology have significantly improved the potential to influence cell and tissue performance, and have recently expanded the field towards regenerative medicine. In recent years a number of approaches have been used routinely in daily clinical practice, others have been introduced in clinical studies, and multitudes are in the preclinical testing phase. Because of these developments, there is a need to provide comprehensive and detailed information for researchers and clinicians on this rapidly expanding field. This book offers, in a single volume, the prerequisites of a comprehensive understanding of tissue engineering and regenerative medicine. The book is conceptualized according to a didactic approach (general aspects: social, economic, and ethical considerations; basic biological aspects of regenerative medicine: stem cell medicine, biomolecules, genetic engineering; classic methods of tissue engineering: cell, tissue, organ culture; biotechnological issues: scaffolds; bioreactors, laboratory work; and an extended medical discipline oriented approach: review of clinical use in the various medical specialties). The content of the book, written in 68 chapters by the world’s leading research and clinical specialists in their discipline, represents therefore the recent intellect, experience, and state of this bio-medical field.
Now in four convenient volumes, Field’s Virology remains the most authoritative reference in this fast-changing field, providing definitive coverage of virology, including virus biology as well as replication and medical aspects of specific virus families. This volume of Field’s Virology: Emerging Viruses, 7th Edition covers recent changes in emerging viruses, providing new or extensively revised chapters that reflect these advances in this dynamic field.