Mitochondrial Disease Genes Compendium

Download or read book Mitochondrial Disease Genes Compendium written by Marni J. Falk, M.D. and published by Academic Press. This book was released on 2020-05-13 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. 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 mitochondrial disease 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. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research. 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

Download or read book Mitochondrial Disease Genes Compendium written by Marni J. Falk and published by Academic Press. This book was released on 2020-04-28 with total page 550 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Practical Guide to Life Science Databases written by Imad Abugessaisa and published by Springer Nature. This book was released on 2022-01-06 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Pet-Specific Care for the Veterinary Team written by Lowell Ackerman and published by John Wiley & Sons. This book was released on 2021-03-23 with total page 1106 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt: