Mitochondrial Disease Genes Compendium

Written By Marni J. Falk
Mitochondrial Disease Genes Compendium
  • Publsiher : Academic Press
  • Release : 01 May 2020
  • ISBN : 0128200294
  • Pages : 424 pages
  • Rating : /5 from reviews
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Download or read book entitled Mitochondrial Disease Genes Compendium by author: Marni J. Falk which was release on 01 May 2020 and published by Academic Press with total page 424 pages . This book available in PDF, EPUB and Kindle Format. 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 Date : 2020-05
  • Total pages : 424
  • ISBN : 0128200294
GET BOOK

Summary : 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 ...

Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release Date : 2020-04-28
  • Total pages : 548
  • ISBN : 0128200294
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Summary : 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 ...

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 Date : 2005-12-01
  • Total pages : 272
  • ISBN : 0128200294
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Summary : 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 ...

Compendium of Corn Diseases

Compendium of Corn Diseases
  • Author : University of Illinois at Urbana-Champaign. Department of Crop Sciences
  • Publisher : Amer Phytopathological Society
  • Release Date : 1999
  • Total pages : 78
  • ISBN : 0128200294
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Summary : As useful to growers and crop consultants as they are to researchers, these practical guidebooks offer convenient help in identifying, controlling, and preventing the diseases of major crop plants. Each volume features: -- Full-color photographs to help you quickly match symptoms with diseases -- Descriptions of symptoms, causes, cycles, and ...

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
  • Total pages : 163
  • ISBN : 0128200294
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Summary : 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 ...

Annual Review of Genomics and Human Genetics

Annual Review of Genomics and Human Genetics
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2010
  • Total pages : 212
  • ISBN : 0128200294
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Summary : Read online Annual Review of Genomics and Human Genetics written by , published by which was released on 2010. Download full Annual Review of Genomics and Human Genetics Books now! Available in PDF, ePub and Kindle....

Tobacco Abstracts

Tobacco Abstracts
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 1994
  • Total pages : 212
  • ISBN : 0128200294
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Summary : Read online Tobacco Abstracts written by , published by which was released on 1994. Download full Tobacco Abstracts Books now! Available in PDF, ePub and Kindle....

Compendium of Tobacco Diseases

Compendium of Tobacco Diseases
  • Author : H. D. Shew,George Blanchard Lucas,American Phytopathological Society
  • Publisher : Amer Phytopathological Society
  • Release Date : 1991
  • Total pages : 68
  • ISBN : 0128200294
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Summary : As useful to growers and crop consultants as they are to researchers, these practical guidebooks offer convenient help in identifying, controlling, and preventing the diseases of major crop plants. Each volume features: -- Full-color photographs to help you quickly match symptoms with diseases -- Descriptions of symptoms, causes, cycles, and ...

Compendium of Alfalfa Diseases

Compendium of Alfalfa Diseases
  • Author : Donald L. Stuteville,Donald C. Erwin,American Phytopathological Society
  • Publisher : Amer Phytopathological Society
  • Release Date : 1990
  • Total pages : 84
  • ISBN : 0128200294
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Summary : International in scope, the set provides a thorough, authoritative, and practical reference for plant pathologists and other agricultural researchers working with alfalfa diseases in the field, in diagnostic laboratories, or in plant clinics. Especially designed for the extension plant pathologist who has access to a microscope and for agricultural workers ...

Neuromuscular Function and Disease

Neuromuscular Function and Disease
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2002
  • Total pages : 1948
  • ISBN : 0128200294
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Summary : Read online Neuromuscular Function and Disease written by , published by which was released on 2002. Download full Neuromuscular Function and Disease Books now! Available in PDF, ePub and Kindle....

2007 Compendium Of Selected Publications

2007 Compendium Of Selected Publications
  • Author : American College of Obstetricians and Gynecologists. Women's Health Care Physicians
  • Publisher : Unknown
  • Release Date : 2007-06-30
  • Total pages : 212
  • ISBN : 0128200294
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Summary : Read online 2007 Compendium Of Selected Publications written by American College of Obstetricians and Gynecologists. Women's Health Care Physicians, published by which was released on 2007-06-30. Download full 2007 Compendium Of Selected Publications Books now! Available in PDF, ePub and Kindle....

Chemical Abstracts

Chemical Abstracts
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2002
  • Total pages : 212
  • ISBN : 0128200294
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Summary : Read online Chemical Abstracts written by , published by which was released on 2002. Download full Chemical Abstracts Books now! Available in PDF, ePub and Kindle....

Bioinformatics and Functional Genomics

Bioinformatics and Functional Genomics
  • Author : Jonathan Pevsner
  • Publisher : Wiley-Liss
  • Release Date : 2003-11-04
  • Total pages : 753
  • ISBN : 0128200294
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Summary : Analyzing DNA, RNA, and protein sequences in databases -- Access to sequence data and literature -- Pairwise sequence alignment -- Basic Local Alignment Search Tool (BLAST) -- Advanced BLAST searching -- Genomewide analysis of RNA and protein -- Bioinformatic approaches to gene expression -- Gene expression: microarray data analysis -- ...

Cancer Research

Cancer Research
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2006-08
  • Total pages : 212
  • ISBN : 0128200294
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Summary : Read online Cancer Research written by , published by which was released on 2006-08. Download full Cancer Research Books now! Available in PDF, ePub and Kindle....

Molecular Aspects of Aging

Molecular Aspects of Aging
  • Author : K. Esser,G. M. Martin
  • Publisher : John Wiley & Son Limited
  • Release Date : 1995-09-13
  • Total pages : 302
  • ISBN : 0128200294
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Summary : As we approach the twenty-first century, aging is likely to emerge as a leading issue for biological and biomedical scientists. The elucidation of the underlying mechanisms of aging may constitute the most effective approach to the prevention or postponement of major geriatric disorders. An understanding of why individual subjects vary ...