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 : 0128200308
Pages : 548 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. 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

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!
The Human Mitochondrial Genome

The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore,

GET BOOK!
2007 Compendium Of Selected Publications

Download or read online 2007 Compendium Of Selected Publications written by American College of Obstetricians and Gynecologists. Women's Health Care Physicians, published by Unknown which was released on 2007-06-30. Get 2007 Compendium Of Selected Publications Books now! Available in PDF, ePub and Kindle.

GET BOOK!
Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains

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!
The ABC Transporters of Human Physiology and Disease

Download or read online The ABC Transporters of Human Physiology and Disease written by Anonim, published by Unknown which was released on . Get The ABC Transporters of Human Physiology and Disease Books now! Available in PDF, ePub and Kindle.

GET BOOK!
Neurogenetics

An international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing neurologically relevant genes, their mutations, and their proteins. Providing detailed step-by-step instructions to assure successful experimental results, these experts cover the key methods for mutation detection and screening, including discussions of quantitative

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!
The Bipolar Brain

In this book, experts in neuroimaging and genetics discuss recent discoveries in bipolar disorder, leading to an integrated neurophysiologic model of this condition. This model provides a substrate for future investigations to, hopefully, lead to better understanding of this illness in order to develop improved therapies for affected individuals.

GET BOOK!
Molecular Neuropathology

This volume provides an introduction to the essential techniques required for studying the molecular biology of brain disease. The approaches and strategies for investigations of gene structure and regulation are described with reference to the molecular genetics of prion and Alzheimer's disease. The effects of aberrant gene regulation can also

GET BOOK!
Compendium of Problems in Genetics

Corresponds to Problems in Genetics as well as being keyed to 9 other genetics texts.

GET BOOK!
Next Generation Sequencing

In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS)

GET BOOK!
Molecular Biology and Genetic Engineering

PART I Molecular Biology 1. Molecular Biology and Genetic Engineering Definition, History and Scope 2. Chemistry of the Cell: 1. Micromolecules (Sugars, Fatty Acids, Amino Acids, Nucleotides and Lipids) Sugars (Carbohydrates) 3. Chemistry of the Cell . 2. Macromolecules (Nucleic Acids; Proteins and Polysaccharides) Covalent and Weak Non-covalent Bonds 4. Chemistry of the Gene: Synthesis, Modification and

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!