Mitochondrial Disease Genes Compendium

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  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Pages : 424 pages
  • ISBN : 0128200294
  • Rating : /5 from reviews
CLICK HERE TO GET THIS BOOK >>>Mitochondrial Disease Genes Compendium

Download or Read online Mitochondrial Disease Genes Compendium full in PDF, ePub and kindle. this book written by Marni J. Falk and published by Academic Press which was released on 01 May 2020 with total page 424 pages. We cannot guarantee that Mitochondrial Disease Genes Compendium book is available in the library, click Get Book button and read full online book in your kindle, tablet, IPAD, PC or mobile whenever and wherever You Like. 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

Mitochondrial Disease Genes Compendium
  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release : 01 May 2020
GET THIS 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 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),

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 : 26 October 2021
GET THIS 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 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

A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye
  • Author : Elias I. Traboulsi M.D.
  • Publisher : Oxford University Press
  • Release : 01 December 2005
GET THIS 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 of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to

Mitochondrial Disorders Caused by Nuclear Genes

Mitochondrial Disorders Caused by Nuclear Genes
  • Author : Lee-Jun C. Wong
  • Publisher : Springer Science & Business Media
  • Release : 18 September 2012
GET THIS 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 in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell,

Compendium on Cardiomyopathies Basics Therapeutics and Perspectives

Compendium on Cardiomyopathies   Basics  Therapeutics  and Perspectives
  • Author : Jinfu Yang,Iroegbu Chukwuemeka Daniel
  • Publisher : Bentham Science Publishers
  • Release : 28 January 2020
GET THIS 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, inherited cardiomyopathies, Chagas disease, Takotsubo cardiomyopathy and more. Readers will be informed about current research on different aspects of these cardiomyopathies such as etiology, important imaging methods used in diagnosis

Biochemistry and Molecular Biology Compendium

Biochemistry and Molecular Biology Compendium
  • Author : Roger L. Lundblad
  • Publisher : CRC Press
  • Release : 24 April 2020
GET THIS 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 biology, complete with properties and structure drawings. Researchers will find this book to be a valuable tool that will save them time, as well as provide essential links to the

Diagnosis and Management of Mitochondrial Disorders

Diagnosis and Management of Mitochondrial Disorders
  • Author : Michelangelo Mancuso,Thomas Klopstock
  • Publisher : Springer
  • Release : 03 May 2019
GET THIS 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 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

Genetics Manual

Genetics Manual
  • Author : G. P. R‚dei
  • Publisher : World Scientific
  • Release : 26 October 1998
GET THIS BOOK Genetics Manual

"Redei has created an outstanding compendium of genetics. Arranged as a dictionary, the book is almost an encyclopedic collection of terms & concepts ... The author has managed to define terms with appropriate mixtures of depth & detail for the researcher, along with clarity useful for the nonexpert." Choice, 1998

Genomic Medicine

Genomic Medicine
  • Author : Dhavendra Kumar,Charis Eng
  • Publisher : Oxford University Press
  • Release : 26 September 2014
GET THIS BOOK Genomic Medicine

The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and

Mitochondrial Dynamics in Cardiovascular Medicine

Mitochondrial Dynamics in Cardiovascular Medicine
  • Author : Gaetano Santulli
  • Publisher : Springer
  • Release : 25 May 2017
GET THIS BOOK Mitochondrial Dynamics in Cardiovascular Medicine

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

The Carrot Genome

The Carrot Genome
  • Author : Philipp Simon,Massimo Iorizzo,Dariusz Grzebelus,Rafal Baranski
  • Publisher : Springer
  • Release : 08 May 2019
GET THIS BOOK The Carrot Genome

This book provides an up-to-date review and analysis of the carrot’s nuclear and organellar genome structure and evolution. In addition, it highlights applications of carrot genomic information to elucidate the carrot’s natural and agricultural history, reproductive biology, and the genetic basis of traits important in agriculture and human health. The carrot genome was sequenced in 2016, and its relatively small diploid genome, combined with the fact that it is the most complete root crop genome released to date and

The Brassica napus Genome

The Brassica napus Genome
  • Author : Shengyi Liu,Rod Snowdon,Boulos Chalhoub
  • Publisher : Springer
  • Release : 22 October 2018
GET THIS BOOK The Brassica napus Genome

This book describes how the genome sequence contributes to our understanding of allopolyploidisation and the genome evolution, genetic diversity, complex trait regulation and knowledge-based breeding of this important crop. Numerous examples demonstrate how widespread homoeologous genome rearrangements and exchanges have moulded structural genome diversity following a severe polyploidy bottleneck. The allopolyploid crop species Brassica napus has the most highly duplicated plant genome to be assembled to date, with the largest number of annotated genes. Examples are provided for use of

The Human Mitochondrial Genome

The Human Mitochondrial Genome
  • Author : Giuseppe Gasparre,Anna Maria Porcelli
  • Publisher : Academic Press
  • Release : 23 July 2020
GET THIS 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, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including