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Molecular Mechanisms Of Cilia Related Diseases
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Book Synopsis Molecular Mechanisms of Cilia Related Diseases by : Joao Goncalves
Download or read book Molecular Mechanisms of Cilia Related Diseases written by Joao Goncalves and published by Frontiers Media SA. This book was released on 2024-05-29 with total page 175 pages. Available in PDF, EPUB and Kindle. Book excerpt: Eukaryotic cilia are evolutionarily conserved microtubule-based structures that protrude from the cell surface. In vertebrates, multiple motile and primary (immotile) cilia fulfill sensory and motility functions that are critical for embryonic development and the homeostasis of adult tissues. Cilia malfunction has been shown to cause a growing number of diseases presenting phenotypes such as brain and skeletal developmental problems, intellectual disability, blindness, infertility, obesity, and kidney cysts. Despite their clinical relevance, we are still far from fully understanding the basic biology of these multiple cilia types. For example, we do not know the molecular compositions of all types of cilia nor how cilia structural and functional diversity is generated. Also, we are still identifying the genetic causes of ciliopathies and the impact of mutations on ciliary protein function, cilia biogenesis/maintenance, ciliary functions, and disease development. Understanding all these aspects concerning vertebrate cilia will greatly contribute to the design of innovative therapeutic approaches for cilia-related disorders. Understanding the basic biology of vertebrate cilia is critical for the understanding of cilia-related disorders. However, there are still many open questions about these organelles. For example, we do not know the proteomes and protein-protein interaction networks specific of each cilium type. Also, the function of ciliary proteins is often studied mostly in vitro and in the context of primary cilia. This limits our possibility to answer questions like “why does a certain disease mutation affect only certain types of cilia in specific tissues?”. Therefore, this Research Topic aims to address these issues and focus on the latest findings on the basic biology of vertebrate cilia such as their molecular composition and biogenesis pathways, and also on advances on our understanding of the molecular mechanisms of ciliopathies. The goal of this Research Topic is to cover novel research focused on furthering our understanding on the molecular mechanisms underlying the development of cilia-associated diseases. Areas to be covered in this Research Topic may include, but are not limited to: - Identification of novel cilia-related diseases - Genetic causes of ciliopathies - Molecular mechanisms of disease and development of therapeutic approaches - Molecular composition of vertebrate cilia - Molecular mechanisms of vertebrate cilia biogenesis and multiple functions Original research articles as well as review articles are welcomed.
Download or read book Primary Cilia written by and published by Academic Press. This book was released on 2009-11-30 with total page 423 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, the role of cilia in the study of health, development and disease has been increasingly clear, and new discoveries have made this an exciting and important field of research. This comprehensive volume, a complement to the new three-volume treatment of cilia and flagella by King and Pazour, presents easy-to-follow protocols and detailed background information for researchers working with cilia and flagella. - Covers protocols for primary cilia across several systems and species - Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time - Relevant to clinicians and scientists working in a wide range of fields
Download or read book Cilia and Flagella written by and published by Academic Press. This book was released on 1995-08-31 with total page 643 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cilia and Flagella presents protocols accessible to all individuals working with eukaryotic cilia and flagella. These recipes delineate laboratory methods and reagents, as well as critical steps and pitfalls of the procedures. The volume covers the roles of cilia and flagella in cell assembly and motility, the cell cycle, cell-cell recognition and other sensory functions, as well as human diseases and disorders. Students, researchers, professors, and clinicians should find the book's combination of "classic" and innovative techniques essential to the study of cilia and flagella.Key Features* A complete guide containing more than 80 concise technical chapters friendly to both the novice and experienced researcher* Covers protocols for cilia and flagella across systems and species from Chlamydomonas and Euglena to mammals* Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time, including microscopy, electrophoresis, and PCR* Relevant to clinicians interested in respiratory disease, male infertility, and other syndromes, who need to learn biochemical, molecular, and genetic approaches to studying cilia, flagella, and related structures
Download or read book Genes and Evolution written by and published by Academic Press. This book was released on 2016-06-06 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genes and Evolution, the latest volume in the Current Topics in Developmental Biology series, covers genes and evolution, with contributions from an international board of authors. The chapters provide a comprehensive set of reviews covering such topics as genes and plant domestication, gene networks, phenotypic loss in vertebrates, reproducible evolutionary changes, and epithelial tissue. - Covers the area of genes and evolution - Contains invaluable contributions from an international board of authors - Provides a comprehensive set of reviews covering such topics as genes and plant domestication, gene networks, phenotypic loss in vertebrates, reproducible evolutionary changes and epithelial tissue
Download or read book Cystogenesis written by Jong Hoon Park and published by Springer. This book was released on 2016-10-12 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Mechanobiology by : Simon C. F. Rawlinson
Download or read book Mechanobiology written by Simon C. F. Rawlinson and published by John Wiley & Sons. This book was released on 2017-01-31 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: An emerging field at the interface of biology and engineering, mechanobiology explores the mechanisms by which cells sense and respond to mechanical signals—and holds great promise in one day unravelling the mysteries of cellular and extracellular matrix mechanics to cure a broad range of diseases. Mechanobiology: Exploitation for Medical Benefit presents a comprehensive overview of principles of mechanobiology, highlighting the extent to which biological tissues are exposed to the mechanical environment, demonstrating the importance of the mechanical environment in living systems, and critically reviewing the latest experimental procedures in this emerging field. Featuring contributions from several top experts in the field, chapters begin with an introduction to fundamental mechanobiological principles; and then proceed to explore the relationship of this extensive force in nature to tissues of musculoskeletal systems, heart and lung vasculature, the kidney glomerulus, and cutaneous tissues. Examples of some current experimental models are presented conveying relevant aspects of mechanobiology, highlighting emerging trends and promising avenues of research in the development of innovative therapies. Timely and important, Mechanobiology: Exploitation for Medical Benefit offers illuminating insights into an emerging field that has the potential to revolutionise our comprehension of appropriate cell biology and the future of biomedical research.
Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Molecular Mechanisms of Retinal Cell Degeneration and Regeneration by : Glenn Prazere Lobo
Download or read book Molecular Mechanisms of Retinal Cell Degeneration and Regeneration written by Glenn Prazere Lobo and published by Frontiers Media SA. This book was released on 2021-04-21 with total page 162 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Handbook of Clinical Adult Genetics and Genomics by : Shweta Dhar
Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. - Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders - Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics - Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
Author :United States. Public Health Service. Office of the Surgeon General Publisher : ISBN 13 : Total Pages :728 pages Book Rating :4.:/5 (318 download)
Book Synopsis How Tobacco Smoke Causes Disease by : United States. Public Health Service. Office of the Surgeon General
Download or read book How Tobacco Smoke Causes Disease written by United States. Public Health Service. Office of the Surgeon General and published by . This book was released on 2010 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: This report considers the biological and behavioral mechanisms that may underlie the pathogenicity of tobacco smoke. Many Surgeon General's reports have considered research findings on mechanisms in assessing the biological plausibility of associations observed in epidemiologic studies. Mechanisms of disease are important because they may provide plausibility, which is one of the guideline criteria for assessing evidence on causation. This report specifically reviews the evidence on the potential mechanisms by which smoking causes diseases and considers whether a mechanism is likely to be operative in the production of human disease by tobacco smoke. This evidence is relevant to understanding how smoking causes disease, to identifying those who may be particularly susceptible, and to assessing the potential risks of tobacco products.
Download or read book Ciliopathies written by Thomas D. Kenny and published by OUP Oxford. This book was released on 2013-08-15 with total page 371 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders. Ciliopathies: a reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, and ophthalmology, and non-clinical researchers interested in cilia biology.
Book Synopsis ARF Family GTPases by : Richard A. Kahn
Download or read book ARF Family GTPases written by Richard A. Kahn and published by Springer Science & Business Media. This book was released on 2006-04-11 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: For the first time experts in the area of signalling research with a focus on the ARF family have contributed to the production of a title devoted to ARF biology. A comprehensive phylogenetic analysis of the ARF family, tables of the ARF GEFs and ARF GAPs, and more than a dozen chapters describing them in detail are provided. The impact of the ARF proteins on widely diverse aspects of cell biology and cell signalling can be clearly seen from the activities described; including membrane traffic, lipid metabolism, receptor desensitization, mouse development, microtubule dynamics, and bacterial pathogenesis. Anyone interested in understanding the complexities of cell signalling and the integration of signalling networks will benefit from this volume.
Book Synopsis TRP Ion Channel Function in Sensory Transduction and Cellular Signaling Cascades by : Wolfgang B. Liedtke, MD, PH.D.
Download or read book TRP Ion Channel Function in Sensory Transduction and Cellular Signaling Cascades written by Wolfgang B. Liedtke, MD, PH.D. and published by CRC Press. This book was released on 2006-09-29 with total page 502 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the first TRP ion channel was discovered in Drosophila melanogaster in 1989, the progress made in this area of signaling research has yielded findings that offer the potential to dramatically impact human health and wellness. Involved in gateway activity for all five of our senses, TRP channels have been shown to respond to a wide range of st
Book Synopsis Principles of Developmental Genetics by : Sally A. Moody
Download or read book Principles of Developmental Genetics written by Sally A. Moody and published by Elsevier. This book was released on 2007-07-19 with total page 1094 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unlike anything currently available in the market, Dr. Sally A. Moody and a team of world-renowned experts provide a groundbreaking view of developmental genetics that will influence scientific approaches in embryology, comparative biology, as well as the newly emerging fields of stem cell biology and regenerative medicine. Principles of Developmental Genetics highlights the intersection of developmental biology with new revolutionary genomic technologies, and details how these advances have accelerated our understanding of the molecular genetic processes that regulates development. This definitive resource provides researchers with the opportunity to gain important insights into the clinical applicability of emerging new technologies and animal model data. This book is a must-have for all researchers in genetics, developmental biology, regenerative medicine, and stem cell biology.• Includes new research not previously published in any other book on the molecular geneticprocesses that regulates development• Chapters present a broad understanding on the application of animal model systems, allowingresearchers to better treat clinical disorders and comprehend human development• Relates the application of new technologies to the manipulation of stem cells, causes ofhuman birth defects, and several human disease conditions• Each chapter includes a bulleted summary highlighting clinical aspects of animal models
Download or read book Cilia written by Wallace F. Marshall and published by . This book was released on 2016-11-30 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nearly every cell in the human body has one or more protrusive structures called cilia or flagella. These power cell movement and fluid flow, sense the extracellular environment, coordinate cell signaling, and establish left-right asymmetry during development. Mutations in genes that encode cilia can lead to disorders known as ciliopathies. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Biology examines key aspects of ciliary biology-from the molecular to the organismal level-in normal physiology and disease. The contributors dissect the complex structures of motile and nonmotile (primary) cilia, discuss how the intraflagellar transport machinery moves cargo across the central axoneme, and review how the ciliary gate controls the composition of cilia and flagella. The roles of cilia in coordinating cellular responses to environmental stimuli via cell signaling pathways (e.g., Hedgehog) are also covered, as are physiological functions in processes such as fertilization, mucociliary clearance, and vision. The authors also survey the wide spectrum of ciliopathies, describing their genetic bases, pathogenic mechanisms, and clinical manifestations. This volume is therefore an indispensable reference for all cell and developmental biologists, as well as medical geneticists and clinical scientists wishing to understand and treat disorders involving ciliary dysfunction.
Book Synopsis Polycystic Kidney Disease by : Jinghua Hu
Download or read book Polycystic Kidney Disease written by Jinghua Hu and published by CRC Press. This book was released on 2019-10-24 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies. Key Features Explores the role of cilia in polycystic kidney disease Focuses on myriad state-of-the-art methods and techniques Reviews specific mutations integral to this autosomal genetic disease Includes discussions of model systems
Book Synopsis Cilia and Mucus by : Matthias Salathe
Download or read book Cilia and Mucus written by Matthias Salathe and published by CRC Press. This book was released on 2001-07-27 with total page 451 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book details advances in research regarding cilia, mucus, and mucociliary clearance, examining changes in mucus expression and goblet cell metaplasia, and assessing the ability of the mucociliary system to respond to abnormalities. Recognizes that cilia and dynein arms play pivotal roles in developing mammalian embryos! Examines the rol
