Mitochondrial Disease Genes Compendium

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Read or download book entitled Mitochondrial Disease Genes Compendium written by Marni J. Falk and published by Academic Press in PDF, EPUB and Kindle Format. Click Get This Book button to download or read online books. Join over 650.000 happy Readers and READ as many books as you like. We cannot guarantee that Mitochondrial Disease Genes Compendium book is available in the library.

  • Publisher : Academic Press
  • Release : 28 April 2020
  • ISBN : 9780128200308
  • Page : 548 pages
  • Rating : 4.5/5 from 103 voters

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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

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Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release Date : 2020-04-28
  • ISBN : 9780128200308
GET THIS BOOKMitochondrial 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 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 (

Mitochondrial Disorders: Biochemical and Molecular Basis of Disease

Mitochondrial Disorders: Biochemical and Molecular Basis of Disease
  • Author : Grant M. Hatch
  • Publisher : Frontiers Media SA
  • Release Date : 2022-01-11
  • ISBN : 9782889740215
GET THIS BOOKMitochondrial Disorders: Biochemical and Molecular Basis of Disease

Mitochondrial Parts, Pathways, and Pathogenesis

Mitochondrial Parts, Pathways, and Pathogenesis
  • Author : Sarah E. Calvo,Harvard University--MIT Division of Health Sciences and Technology
  • Publisher : Unknown
  • Release Date : 2009
  • ISBN : OCLC:551147715
GET THIS BOOKMitochondrial 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 identify all of the proteins resident in this organelle and to understand how they integrate into pathways. However, traditional molecular and biochemistry methods have identified only half of the estimated 1200

Diagnosis and Management of Mitochondrial Disorders

Diagnosis and Management of Mitochondrial Disorders
  • Author : Michelangelo Mancuso,Thomas Klopstock
  • Publisher : Springer
  • Release Date : 2019-05-03
  • ISBN : 9783030055172
GET THIS BOOKDiagnosis 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 by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists

Mitochondrial Medicine

Mitochondrial Medicine
  • Author : Salvatore DiMauro,Michio Hirano,Eric A. Schon
  • Publisher : CRC Press
  • Release Date : 2019-11-26
  • ISBN : 0367446367
GET THIS BOOKMitochondrial 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 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,

Knowledge and Systems Engineering

Knowledge and Systems Engineering
  • Author : Viet-Ha Nguyen,Anh-Cuong Le,Van-Nam Huynh
  • Publisher : Springer
  • Release Date : 2014-09-29
  • ISBN : 9783319116808
GET THIS BOOKKnowledge and Systems Engineering

This volume contains papers presented at the Sixth International Conference on Knowledge and Systems Engineering (KSE 2014), which was held in Hanoi, Vietnam, during 9–11 October, 2014. The conference was organized by the University of Engineering and Technology, Vietnam National University, Hanoi. Besides the main track of contributed papers, this proceedings feature the results of four special sessions focusing on specific topics of interest and three invited keynote speeches. The book gathers a total of 51 carefully reviewed papers describing recent advances and development

Inherited Metabolic Diseases

Inherited Metabolic Diseases
  • Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-11-21
  • ISBN : 9783540747239
GET THIS BOOKInherited Metabolic Diseases

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index.

2008 Compendium of Selected Publications

2008 Compendium of Selected Publications
  • Author : American College of Obstetricians and Gynecologists
  • Publisher : Unknown
  • Release Date : 2008-02
  • ISBN : 1932328440
GET THIS BOOK2008 Compendium of Selected Publications

The ABC Transporters of Human Physiology and Disease

The ABC Transporters of Human Physiology and Disease
  • Author : Kenneth J. Linton,I. B. Holland
  • Publisher : World Scientific
  • Release Date : 2011
  • ISBN : 9789814280068
GET THIS BOOKThe 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 cellular membranes. The human genome encodes 48 ABC transporters and most have been shown to underlie one or more human diseases. This book that brings together state-of-the-art knowledge on proteins in

Lymphedema

Lymphedema
  • Author : Byung-Boong Lee,Stanley G. Rockson,John Bergan
  • Publisher : Springer
  • Release Date : 2018-01-10
  • ISBN : 9783319524238
GET THIS BOOKLymphedema

The second edition of this book serves as a central source of theoretical and practical knowledge to optimize the evaluation and treatment of patients with lymphedema. The book covers all aspects of the disease from anatomical and histological features to diagnosis as well as physical/medical and surgical management of the disease. Updated from the first edition to reflect the substantial progress in diagnostics, medical care and surgical intervention for this patient population, this volume has been reorganized to meet

The Wild Oryza Genomes

The Wild Oryza Genomes
  • Author : Tapan K. Mondal,Robert J. Henry
  • Publisher : Springer
  • Release Date : 2018-02-15
  • ISBN : 9783319719979
GET THIS BOOKThe Wild Oryza Genomes

This book focuses on the latest genome sequencing of the 25 wild Oryza species, public and private genomic resources, and their impact on genetic improvement research. It also addresses the untapped reservoir of agronomically important traits in wild Oryza species. Rice is a model crop plant that is frequently used to address several basic questions in plant biology, yet its wild relatives offer an untapped source of agronomically important alleles that are absent in the rice gene pool. The genus Oryza

Primary Cilia

Primary Cilia
  • Author : Anonim
  • Publisher : Academic Press
  • Release Date : 2009-11-30
  • ISBN : 0080962823
GET THIS BOOKPrimary Cilia

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

The Mango Genome

The Mango Genome
  • Author : Chittaranjan Kole
  • Publisher : Springer Nature
  • Release Date : 2021-03-27
  • ISBN : 9783030478292
GET THIS BOOKThe Mango Genome

This book represents the first comprehensive compilation of deliberations on botany; genetic resources; genetic diversity analysis; classical genetics & traditional breeding; in vitro culture & genetic transformation; detailed information on molecular maps & mapping of economic genes and QTLs; whole genome sequencing of the nuclear genome and sequencing of chloroplast genome; and elucidation of functional genomics. It also addresses alternate flowering, a unique problem in mango, and discusses currently available genomic resources and databases. Gathering contributions by globally reputed experts, the book will

Cardiovascular Genetics and Genomics

Cardiovascular Genetics and Genomics
  • Author : Dhavendra Kumar,Perry Elliott
  • Publisher : Springer
  • Release Date : 2018-01-17
  • ISBN : 9783319661148
GET THIS BOOKCardiovascular Genetics and Genomics

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

The Wild Solanums Genomes

The Wild Solanums Genomes
  • Author : Domenico Carputo,Riccardo Aversano,Maria Raffaella Ercolano
  • Publisher : Springer Nature
  • Release Date : 2021-09-21
  • ISBN : 9783030303433
GET THIS BOOKThe Wild Solanums Genomes

This book gathers the latest information on the organization of genomes in wild Solanum species and emphasizes how this information is yielding direct outcomes in the fields of molecular breeding, as well as a better understanding of both the patterns and processes of evolution. Cultivated Solanums, such as potato, tomato, and pepper, possess a high number of wild relatives that are of great importance for practical breeding and evolutionary studies. Their germplasm is often characterized by allelic diversity, as well