New Approaches To Study Ciliopathies And Centrioles Related Genetic Disorders
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| Author | : Carlo Iomini |
| Publisher | : Frontiers Media SA |
| Total Pages | : 154 |
| Release | : 2020-10-11 |
| Genre | : Science |
| ISBN | : 2889661407 |
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.
| Author | : |
| Publisher | : Academic Press |
| Total Pages | : 423 |
| Release | : 2009-11-30 |
| Genre | : Science |
| ISBN | : 0080962823 |
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
| Author | : |
| Publisher | : Academic Press |
| Total Pages | : 434 |
| Release | : 2016-06-06 |
| Genre | : Science |
| ISBN | : 0124172016 |
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
| Author | : |
| Publisher | : Academic Press |
| Total Pages | : 643 |
| Release | : 1995-08-31 |
| Genre | : Science |
| ISBN | : 0080859453 |
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
| Author | : Jong Hoon Park |
| Publisher | : Springer |
| Total Pages | : 128 |
| Release | : 2016-10-12 |
| Genre | : Medical |
| ISBN | : 9811020418 |
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.
| Author | : Theodor Boveri |
| Publisher | : |
| Total Pages | : 108 |
| Release | : 2008 |
| Genre | : Medical |
| ISBN | : |
An English translation of Boveri's famous monograph which was first published in Germany in 1914. Written almost a hundred years ago, Theodor Boveri's Zur Frage der Entstehung maligner Tumoren has had a momentous impact on cancer research. In it he argues that malignancy arises as a consequence of chromosomal abnormalities and that multiplication is an inherent property of cells. With astonishing prescience, Boveri predicts in this monograph the existence of tumor suppressor mechanisms and is perhaps the first to suggest that hereditary factors (genes) are linearly arranged along chromosomes. This new translation by Sir Henry Harris, Regius Professor of Medicine Emeritus at Oxford University and former Editor-in-Chief of Journal of Cell Science, includes extensive annotations in which he discusses the relevance of Boveri's views today. It is essential reading for all cancer researchers, as well as those interested in the history of cytogenetics and cell biology.
| Author | : William K. Scott |
| Publisher | : John Wiley & Sons |
| Total Pages | : 340 |
| Release | : 2021-12-06 |
| Genre | : Science |
| ISBN | : 1118123913 |
Genetic Analysis of Complex Diseases An up-to-date and complete treatment of the strategies, designs and analysis methods for studying complex genetic disease in human beings In the newly revised Third Edition of Genetic Analysis of Complex Diseases, a team of distinguished geneticists delivers a comprehensive introduction to the most relevant strategies, designs and methods of analysis for the study of complex genetic disease in humans. The book focuses on concepts and designs, thereby offering readers a broad understanding of common problems and solutions in the field based on successful applications in the design and execution of genetic studies. This edited volume contains contributions from some of the leading voices in the area and presents new chapters on high-throughput genomic sequencing, copy-number variant analysis and epigenetic studies. Providing clear and easily referenced overviews of the considerations involved in genetic analysis of complex human genetic disease, including sampling, design, data collection, linkage and association studies and social, legal and ethical issues. Genetic Analysis of Complex Diseases also provides: A thorough introduction to study design for the identification of genes in complex traits Comprehensive explorations of basic concepts in genetics, disease phenotype definition and the determination of the genetic components of disease Practical discussions of modern bioinformatics tools for analysis of genetic data Reflecting on responsible conduct of research in genetic studies, as well as linkage analysis and data management New expanded chapter on complex genetic interactions This latest edition of Genetic Analysis of Complex Diseases is a must-read resource for molecular biologists, human geneticists, genetic epidemiologists and pharmaceutical researchers. It is also invaluable for graduate students taking courses in statistical genetics or genetic epidemiology.
| Author | : Sally A. Moody |
| Publisher | : Elsevier |
| Total Pages | : 1094 |
| Release | : 2007-07-19 |
| Genre | : Science |
| ISBN | : 0080550711 |
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
| Author | : Simon C. F. Rawlinson |
| Publisher | : John Wiley & Sons |
| Total Pages | : 444 |
| Release | : 2017-01-31 |
| Genre | : Science |
| ISBN | : 1118966155 |
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.
| Author | : Manuel Nistal |
| Publisher | : Springer |
| Total Pages | : 378 |
| Release | : 2017-03-07 |
| Genre | : Medical |
| ISBN | : 3319493647 |
This book presents the morphology of different non-tumoral lesions of the testis. By showing the differential diagnosis of each lesion, it offers clinicians vital support with diagnosis and treatment. The book is divided into seven main parts: genetic and developmental pathology of the testis; infertility; vascular pathology of the testis; inflammatory pathology; pathology of the rete testis and epididymis; pathology of the vaginal tunic and paratesticular structures; and a final part dealing with miscellanea. Each chapter includes carefully selected figures and a variety of diagrams highlighting the main characteristics of a specific lesion to facilitate its diagnosis.Based on the authors’ experience with hundreds of biopsies, surgical specimens and autopsies, the book presents material that has been gathered over the past 40 years, providing an essential tool for pathologists, urologists, andrologists and pediatricians who face diagnostic problems.
