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Author: Marni J. Falk
Publisher: Academic Press
ISBN: 0128200294
Category : Science
Languages : en
Pages : 548
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Book Description
The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on 256 mitochondrial disease genes from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition.
Author: Marni J. Falk
Publisher: Academic Press
ISBN: 0128200294
Category : Science
Languages : en
Pages : 548
Get Book Here
Book Description
The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on 256 mitochondrial disease genes from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition.
Author: Marni J. Falk
Publisher: Academic Press
ISBN: 0128200308
Category : Science
Languages : en
Pages : 550
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Book Description
The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on 256 mitochondrial disease genes from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. - Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions - Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools - Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases
Author: Salvatore DiMauro
Publisher: CRC Press
ISBN: 9781842142882
Category : Medical
Languages : en
Pages : 368
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Book Description
Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.
Author: Takeshi Nishio
Publisher: Springer
ISBN: 331959253X
Category : Science
Languages : en
Pages : 229
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Book Description
This book summarizes the latest information and the status quo of radish genome studies to stimulate innovations and improvements in breeding techniques and to promote further advances in the field. Radish (Raphanus sativus) is a member of the Brassicaceae family and is cultivated worldwide. Its varieties have been diversified in terms of size, shape, and the color of their roots and bio-components. Thanks to the development of high-throughput molecular techniques using next generation sequencers, complete genomes of cultivated and wild radish plants have been sequenced and published with annotations of predicted genes and single nucleotide polymorphism (SNP) information between radish cultivars and accessions. These, together with the construction of a high-density genetic map of radish and profiling of expression sequences in radish organs, have accelerated genetic studies, such as the identification of genes or loci associated with root development, pungent components, and plant disease resistance. Providing an overview of these advances, this book is a valuable resource for scientists involved in plant genetic research and crop breeding.
Author: Imad Abugessaisa
Publisher: Springer Nature
ISBN: 9811658129
Category : Science
Languages : en
Pages : 228
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Book Description
This book provides the latest information of life science databases that center in the life science research and drive the development of the field. It introduces the fundamental principles, rationales and methodologies of creating and updating life science databases. The book brings together expertise and renowned researchers in the field of life science databases and brings their experience and tools at the fingertips of the researcher. The book takes bottom-up approach to explain the structure, content and the usability of life science database. Detailed explanation of the content, structure, query and data retrieval are discussed to provide practical use of life science database and to enable the reader to use database and provided tools in practice. The readers will learn the necessary knowledge about the untapped opportunities available in life science databases and how it could be used so as to advance basic research and applied research findings and transforming them to the benefit of human life. Chapter 2 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
Author: Lowell Ackerman
Publisher: John Wiley & Sons
ISBN: 1119540704
Category : Medical
Languages : en
Pages : 1106
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Book Description
A practical guide to identifying risks in veterinary patients and tailoring their care accordingly Pet-specific care refers to a practice philosophy that seeks to proactively provide veterinary care to animals throughout their lives, aiming to keep pets healthy and treat them effectively when disease occurs. Pet-Specific Care for the Veterinary Team offers a practical guide for putting the principles of pet-specific care into action. Using this approach, the veterinary team will identify risks to an individual animal, based on their particular circumstances, and respond to these risks with a program of prevention, early detection, and treatment to improve health outcomes in pets and the satisfaction of their owners. The book combines information on medicine and management, presenting specific guidelines for appropriate medical interventions and material on how to improve the financial health of a veterinary practice in the process. Comprehensive in scope, and with expert contributors from around the world, the book covers pet-specific care prospects, hereditary and non-hereditary considerations, customer service implications, hospital and hospital team roles, and practice management aspects of pet-specific care. It also reviews specific risk factors and explains how to use these factors to determine an action plan for veterinary care. This important book: Offers clinical guidance for accurately assessing risks for each patient Shows how to tailor veterinary care to address a patient’s specific risk factors Emphasizes prevention, early detection, and treatment Improves treatment outcomes and provides solutions to keep pets healthy and well Written for veterinarians, technicians and nurses, managers, and customer service representatives, Pet-Specific Care for the Veterinary Team offers a hands-on guide to taking a veterinary practice to the next level of care.
Author: Gaetano Santulli
Publisher: Springer
ISBN: 3319553305
Category : Science
Languages : en
Pages : 644
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Book Description
This text covers the basic principles of mitochondrial dynamics in cardiovascular medicine, with particular emphasis on their functional roles in physiology and disease. The book will include articles pertaining to mitochondrial fitness on a global basis, providing therefore an update on the progress made in several aspects in the field. Thus, it will assist scientists and clinicians alike in furthering basic and translational research. Organized in sections focusing on: basic science, mitochondrial dysfunction in cardiac disorders, in vascular disorders, in metabolic disorders, in kidney disease, therapeutic challenges and options, this essential volume fills imperative gaps in understanding and potentially treating several cardiovascular disorders.
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
Author: Lawrence H. Lash
Publisher: Elsevier
ISBN: 1483218619
Category : Science
Languages : en
Pages : 527
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Book Description
Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.
Author: Dhavendra Kumar
Publisher: Springer
ISBN: 3319661140
Category : Medical
Languages : en
Pages : 921
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Book Description
This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
