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 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 Molecular Genetics and Functional Characterisation of Ciliopathies written by Gabrielle Wheway and published by . This book was released on 2011 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 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 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 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 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 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 Craniofacial Development written by Peter Thorogood and published by . This book was released on 1988 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Dyneins written by Stephen M. King and published by Academic Press. This book was released on 2011-08-11 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: Research on dyneins has a direct impact on human diseases, such as viruses and cancer. With an accompanying website showing over 100 streaming videos of cell dynamic behavior for best comprehension of material, Dynein: Structure, Biology and Disease is the only reference covering the structure, biology and application of dynein research to human disease. From bench to bedside, Dynein: Structure, Biology and Disease offers research on fundamental cellular processes to researchers and clinicians across developmental biology, cell biology, molecular biology, biophysics, biomedicine, genetics and medicine. Broad-based up-to-date resource for the dynein class of molecular motors Chapters written by world experts in their topics Numerous well-illustrated figures and tables included to complement the text, imparting comprehensive information on dynein composition, interactions, and other fundamental features
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 Kidney Development Disease Repair and Regeneration written by Melissa Helen Little and published by Academic Press. This book was released on 2015-08-06 with total page 615 pages. Available in PDF, EPUB and Kindle. Book excerpt: Kidney Development, Disease, Repair and Regeneration focuses on the molecular and cellular basis of kidney development, exploring the origins of kidney lineages, the development of kidney tissue subcompartments, as well as the genetic and environmental regulation of kidney development. Special coverage is given to kidney stem cells and possible steps towards kidney repair and regeneration. Emphasis is placed on the fetal origins of postnatal renal disease and our current understanding of the molecular basis of damage and repair. Biomedical researchers across experimental nephrology and developmental biology will find this a key reference for learning how the underlying developmental mechanisms of the kidney will lead to greater advances in regenerative medicine within nephrology. Offers researchers a single comprehensive resource written by leaders from both the developmental biology and the experimental nephrology communities Focuses on understanding the molecular basis of organogenesis in the kidney as well as how this can be affected both genetically and environmentally Explains the underlying developmental mechanisms which influence the kidney’s inherent repair capacity Demonstrates how a deeper understanding of mechanisms will lead to greater advances in regenerative medicine
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 Silva s Diagnostic Renal Pathology written by Xin J. Zhou and published by Cambridge University Press. This book was released on 2017-03-02 with total page 691 pages. Available in PDF, EPUB and Kindle. Book excerpt: An algorithmic approach to interpreting renal pathology, updated in light of recent advances in understanding and new classification schemes.
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 Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
