Ciliopathies

Ciliopathies PDF Author: Thomas D. Kenny
Publisher: OUP Oxford
ISBN: 0191633372
Category : Medical
Languages : en
Pages : 371

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Book Description
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.

Ciliopathies

Ciliopathies PDF Author: Thomas D. Kenny
Publisher: OUP Oxford
ISBN: 0191633372
Category : Medical
Languages : en
Pages : 371

Get Book Here

Book Description
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.

Ciliopathies

Ciliopathies PDF Author: Thomas D. Kenny
Publisher: OUP Oxford
ISBN: 0191633364
Category : Medical
Languages : en
Pages : 301

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Book Description
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.

New Approaches to Study Ciliopathies and Centrioles-Related Genetic Disorders

New Approaches to Study Ciliopathies and Centrioles-Related Genetic Disorders PDF Author: Carlo Iomini
Publisher: Frontiers Media SA
ISBN: 2889661407
Category : Science
Languages : en
Pages : 154

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Book Description
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.

Genetics and Mechanism of Ciliopathies

Genetics and Mechanism of Ciliopathies PDF Author: Steven L. C. Pei
Publisher: Frontiers Media SA
ISBN: 2832507557
Category : Science
Languages : en
Pages : 169

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Book Description


Primary Cilia

Primary Cilia PDF Author:
Publisher: Academic Press
ISBN: 0080962823
Category : Science
Languages : en
Pages : 423

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Book Description
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

XIIIth International Symposium on Spermatology

XIIIth International Symposium on Spermatology PDF Author: Lars Björndahl
Publisher: Springer Nature
ISBN: 3030662926
Category : Medical
Languages : en
Pages : 370

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Book Description
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.

Genetic Diseases of the Kidney

Genetic Diseases of the Kidney PDF Author: Richard P. Lifton
Publisher: Academic Press
ISBN: 0080924271
Category : Science
Languages : en
Pages : 895

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Book Description
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)

Atlas of Inherited Retinal Diseases

Atlas of Inherited Retinal Diseases PDF Author: Stephen H. Tsang
Publisher: Springer
ISBN: 3319950460
Category : Medical
Languages : en
Pages : 274

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Book Description
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.

Mechanobiology

Mechanobiology PDF Author: Simon C. F. Rawlinson
Publisher: John Wiley & Sons
ISBN: 1118966155
Category : Science
Languages : en
Pages : 444

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Book Description
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.

Cilia

Cilia PDF Author: Paraskevi Goggolidou
Publisher: CRC Press
ISBN: 1351645692
Category : Science
Languages : en
Pages : 269

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Book Description
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.