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.

Download or read book Ciliopathies written by Thomas D. Kenny and published by Oxford University Press (UK). This book was released on 2013-08-15 with total page 301 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ciliopathies: a reference for clinicians 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.

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 New Approaches to Study Ciliopathies and Centrioles Related Genetic Disorders written by Carlo Iomini and published by Frontiers Media SA. This book was released on 2020-10-11 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Download or read book XIIIth International Symposium on Spermatology written by Lars Björndahl and published by Springer Nature. This book was released on 2021-07-22 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: These proceedings of the 2018 XIII International Symposium on Spermatology focus on comparative biology, and encourages discussion and the exchange of ideas. The aim of this Symposium was to provide a unique opportunity and bring together scientists from a wide spectrum of research fields – human, domestic animals and other mammals, vertebrates, insects, and plants. The underlying focus is on the function of the spermatozoon – a common feature for sexual reproduction, but extremely varied. By exploring the variability, a better understanding of male reproductive functions can develop. These proceedings address the mechanisms of physiology and pathophysiology, rather than diagnosis and treatment. The symposium featured keynote lectures by invited speakers, followed by presentations on specific aspects of the general topic of the session. Experimental studies are given priority over clinical studies of patient populations. The proceedings comprise both keynote speakers' texts and selected free communications. Posters were considered for publication in the proceedings, and the volume includes exhibited materials on the work of prominent spermatologists, highlighting their important past achievements in the field.

Download or read book Genetics and Mechanism of Ciliopathies written by Steven L. C. Pei and published by Frontiers Media SA. This book was released on 2022-11-30 with total page 169 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genetic Diseases of the Kidney written by Richard P. Lifton and published by Academic Press. This book was released on 2009-02-25 with total page 895 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic approaches have revolutionized our understanding of the fundamental causes of human disease by permitting the identification of specific genes in which variation causes or contributes to susceptibility to, or protection from, disease. More than 2,000 disease genes have been identified in the last 20 years, providing important new insight into the pathophysiology of diseases in every field of medicine. Genetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Genetic abnormalities are carefully presented within the appropriate physiologic context so that readers will understand not only which genes are linked to which diseases but also which pathways lead from a genetic "disturbance to the systemic appearance of disease. - Lays the essential foundation of mammalian genetics principles for medical professionals with little or no background in genetics - Analyzes specific renal diseases – both monogenic disorders confined to the kidney and systemic diseases with renal involvement – and explains their genetic causes - World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)

Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

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 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.

Download or read book Diagnostic Pathology Kidney Diseases E Book written by Robert B. Colvin and published by Elsevier Health Sciences. This book was released on 2023-08-16 with total page 1267 pages. Available in PDF, EPUB and Kindle. Book excerpt: This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Covering the full range of common and rare nonneoplastic renal diseases, it incorporates the most recent scientific and technical knowledge in the field to provide a comprehensive overview of all key issues relevant to today's practice. Richly illustrated and easy to use, Diagnostic Pathology: Kidney Diseases, fourth edition, is a visually stunning, one-stop resource for every practicing pathologist, nephrologist, resident, student, or fellow as an ideal day-to-day reference or as a reliable training resource. - Provides a comprehensive source for key pathologies and clinical features of more than 265 kidney diseases - Features two dozen new chapters on a variety of timely topics, including COVID-19 nephropathies, xenografts, artificial intelligence (AI), digital pathology analysis, harmonized nephropathology terminology, newly identified types of amyloidosis, common artifacts and pitfalls on kidney biopsy, vaccination-associated renal disease, crystal nephropathies, and much more - Includes updates from the International Kidney and Monoclonal Gammopathy (IKMG) research group, the American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria for IgG4-related disease, Banff Foundation for Allograft Pathology, and others - Details updated genetic causes of nephrotic syndromes and antinephrin antibodies in podocytopathies—by the investigator who discovered it - Discusses the newly identified variant IgG nephropathy and novel membranous autoantigens - Contains chapters on techniques, including immunofluorescence on paraffin sections, C4d staining, and polyomavirus detection in tissue - Contains more than 4,300 print and online images, including high-resolution photographs and histologic images, full-color medical illustrations, radiologic images, and more - Employs consistently templated chapters, bulleted content, key facts, a variety of tables, annotated images, pertinent references, and an extensive index for quick, expert reference at the point of care - Shares the expertise of internationally recognized authors who provide fresh perspectives on multiple topics, with a particular emphasis on practical information that directly assists in making and supporting a diagnosis - Includes an eBook version that enables you to access all text, figures, and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud

Download or read book Clinical Pediatric Nephrology written by Kanwal Kher and published by CRC Press. This book was released on 2016-11-25 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: The third edition of a bestseller, this book provides insight from a wide array of international contributors in the field of pediatric nephrology. Copiously illustrated with photomicrographs and clinical diagrams, the third edition reflects current advances in the field. Each chapter contains a set of questions, directed at helping fellows succeed at the American Pediatric Nephrology Board examination. New information for this edition includes changes in treatment options for hyponatremia, and updates on hyperparathyroidism and transplantation. Text boxes highlight important "take home points" throughout the chapters. Clinical Pediatric Nephrology, Third Edition will be a valuable reference for clinicians in nephrology, pediatrics and urology, and any professional involved in the care of children with renal diseases seeking a reliable contemporary text.

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.

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

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 Curing Genetic Diseases through Genome Reprogramming written by and published by Academic Press. This book was released on 2021-06-24 with total page 560 pages. Available in PDF, EPUB and Kindle. Book excerpt: Curing Genetic Diseases through Genome Reprogramming, Volume 182 captures an historic moment in the field of gene therapy—the dawn of a new age in which the dream of curing genetic diseases has become realizable. The volume presents the most clinically advanced gene therapy and genome editing approaches for the treatment of genetic diseases in specific organs, including difficult therapeutic targets, futuristic ideas of genetic interventions, and large scale human genome repair. An initial chapter addresses the complex ethical aspects involved in the very idea of modifying the human genome. - Provides a comprehensive view of gene therapy and genome editing technologies, including epigenetic editing - Describes the state-of-the-art and future directions for the treatment of genetic diseases, also considering economical aspects - Presents chapters that each give a thorough review of a specific disease, target organ or visionary approach, including ethical considerations

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