mitochondrial disease genes compendium

Download or Read online Mitochondrial Disease Genes Compendium full HQ books. Available in PDF, ePub and Kindle. We cannot guarantee that Mitochondrial Disease Genes Compendium book is available. Click Get Book button to download or read books, you can choose FREE Trial service. Join over 650.000 happy Readers and READ as many books as you like (Personal use).

Mitochondrial Disease Genes Compendium
Author :
Publisher : Academic Press
Release Date :
ISBN 10 : 0128200294
Pages : 424 pages
Rating : /5 ( users)
GET BOOK!

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.

Mitochondrial Disease Genes Compendium

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

GET BOOK!
Mitochondrial Disease Genes Compendium

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

GET BOOK!
Diagnosis and Management of Mitochondrial Disorders

This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written

GET BOOK!
Mitochondrial Disorders  Biochemical and Molecular Basis of Disease

Download or read online Mitochondrial Disorders Biochemical and Molecular Basis of Disease written by Grant M. Hatch, published by Frontiers Media SA which was released on 2022-01-11. Get Mitochondrial Disorders Biochemical and Molecular Basis of Disease Books now! Available in PDF, ePub and Kindle.

GET BOOK!
Mitochondrial Parts  Pathways  and Pathogenesis

Mitochondria are cellular compartments that perform essential roles in energy metabolism, ion homeostasis, and apoptosis. Mitochondrial dysfunction causes disease in 1 in 5,000 live births and also has been associated with aging, neurodegeneration, cancer, and diabetes. To systematically explore the function of mitochondria in health and in disease, it is necessary to

GET BOOK!
A Compendium of Inherited Disorders and the Eye

During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount

GET BOOK!
Mitochondrial Medicine

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

GET BOOK!
Mitochondrial Disorders Caused by Nuclear Genes

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential

GET BOOK!
The Radish Genome

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

GET BOOK!
Compendium on Cardiomyopathies   Basics  Therapeutics  and Perspectives

Compendium on Cardiomyopathies provides an easily readable source of material for practicing physicians, clinicians, cardiologists, intensivists and emergency medicine specialists. It presents an overview of different cardiomyopathies with information known from the past to the present. Chapters cover different kinds of cardiomyopathies: hypertrophic cardiomyopathies, pediatric cardiomyopathies, arrhythmogenic right ventricular cardiomyopathy,

GET BOOK!
Biochemistry and Molecular Biology Compendium

This book is an accessible resource offering practical information not found in more database-oriented resources. The first chapter lists acronyms with definitions, and a glossary of terms and subjects used in biochemistry, molecular biology, biotechnology, proteomics, genomics, and systems biology. There follows chapters on chemicals employed in biochemistry and molecular

GET BOOK!
The ABC Transporters of Human Physiology and Disease

ATP Binding Cassette (ABC) transporters are a family of integral membrane proteins that are likely to be represented in all the cells of all species of archaea, eubacteria and eukaryota. The vast majority of these proteins control the transport of molecules (from small hydrophilic ions to lipids and proteins) across

GET BOOK!
Mitochondrial Medicine

Mitochondrial Medicine: A Primer for Health Care Providers and Translational Researchers is an applied, holistic resource that addresses the evolving and multidisciplinary area of mitochondrial disease. The book discusses the fundamentals of mitochondrial medicine in humans, as well as the pathophysiology, diagnosis and treatment of mitochondrial diseases. Three all-inclusive sections

GET BOOK!
Proceedings of KININ2018CLE  Cleveland  Ohio  June 18 20  2018  A Compendium of the Presentations

Download or read online Proceedings of KININ2018CLE Cleveland Ohio June 18 20 2018 A Compendium of the Presentations written by Alvin H. Schmaier,Marvin T. Nieman,Keith McCrae,Sadashiva Karnik,Joao Bosco Pesquero, published by Frontiers Media SA which was released on 2020-01-14. Get Proceedings of KININ2018CLE Cleveland Ohio June 18 20 2018

GET BOOK!