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 OUP Oxford. This book was released on 2013-08-15 with total page 301 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 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 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 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 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 274 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 Inborn Errors of Development written by Charles J. Epstein and published by Oxford University Press, USA. This book was released on 2004 with total page 1110 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.

Download or read book Cilia written by Paraskevi Goggolidou and published by CRC Press. This book was released on 2018-02-28 with total page 269 pages. Available in PDF, EPUB and Kindle. Book excerpt: The scope of the book is to highlight the diverse roles of cilia in human development and disease. Almost all cell types form cilia and although they were first detected about 200 years ago, their significance was unclear. In the past ten years, it has become obvious that cilia have got sensory functions, as well as roles in motility and their mis-formation or the deregulation of the signaling pathways they control has been associated with defective development and human disease. Although research has concentrated on the role of the cilium in each organ, no effort has been made so far to bring all this information together and relate it to the various human diseases. This book aims to gather all the expertise that has been acquired on primary cilia and translate it into a medical and research context that will be of interest to postgraduate students, researchers, medics and scientists.

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 Diagnostic Pathology Kidney Diseases E Book written by Matthew R Lindberg and published by Elsevier Health Sciences. This book was released on 2015-12-24 with total page 1140 pages. Available in PDF, EPUB and Kindle. Book excerpt: Part of the highly regarded Diagnostic Pathology series, this updated volume is a visually stunning, easy-to-use reference covering all aspects of common and rare renal diseases and their variants. Outstanding images—including gross and microscopic pathology, a wide range of stains, and detailed medical illustrations—make this an invaluable diagnostic aid for every practicing pathologist, resident, or fellow. Written by leading pathologists, this second edition presents an up-to-date, concise presentation of major pathological, clinical, pathophysiological, and genetic information for over 240 diagnoses. High-quality, carefully annotated images highlight critical information, including difficult issues of grading and staging and diagnostic dilemmas not covered in depth in other texts Time-saving reference features include bulleted text, a variety of test data tables, key facts in each chapter, annotated images, and an extensive index Thoroughly updated content throughout with a particular emphasis on practical information that directly assists in making and supporting a diagnosis Over 25 new chapters with information on major advances in nephropathology/nephrology that have occurred since the first edition, especially in the classification of MPGN/complement-related diseases, lupus nephritis, transplant pathology, and newly recognized immunologic and genetic diseases such as ciliopathies, tubulointerstitial nephritis, and glomerulopathies

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 genetic processes that regulates development • Chapters present a broad understanding on the application of animal model systems, allowing researchers to better treat clinical disorders and comprehend human development • Relates the application of new technologies to the manipulation of stem cells, causes of human birth defects, and several human disease conditions • Each chapter includes a bulleted summary highlighting clinical aspects of animal models

Download or read book The Ciliopathies written by Jonathan Tobin and published by LAP Lambert Academic Publishing. This book was released on 2010-02 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ciliopathies are a rare class of human genetic disorder caused by dysfunction of the primary cilium in development and adulthood. This work investigates several novel elements of these diseases. Using advanced image analysis, facial dysmorphology in patients with ciliopathies is characterised and modelled in zebrafish. This uncovers a new role for ciliopathy proteins in cell migration, and furthermore in Sonic Hedgehog signalling. The zebrafish is used to model the renal component of ciliopathies and a therapeutic assay is developed to test the efficacy of drugs to treat renal cysts. Together, these findings have contributed to the diagnosis and potential treatments for ciliopathies.

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 361 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 Genetics of Human Infertility written by P.H. Vogt and published by Karger Medical and Scientific Publishers. This book was released on 2017-09-12 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.

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.