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Mitochondrial Disease Genes Compendium

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Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium Book
Author : Marni J. Falk
Publisher : Academic Press
Release : 2020-05
ISBN : 0128200294
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : Marni J. Falk
Publisher : Academic Press
Release : 2020-04-28
ISBN : 0128200308
Language : En, Es, Fr & De

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Book Description :

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

A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye Book
Author : Elias I. Traboulsi M.D.
Publisher : Oxford University Press
Release : 2005-12-01
ISBN : 0190291060
Language : En, Es, Fr & De

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Book Description :

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 keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

Compendium of Corn Diseases

Compendium of Corn Diseases Book
Author : University of Illinois at Urbana-Champaign. Department of Crop Sciences
Publisher : Amer Phytopathological Society
Release : 1999
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 control practices -- Authoritative knowledge from leading plant scientists -- Discussion of major pathogens, including bacteria, fungi, nematodes, and insects More than 90 plant pathology experts have collaborated to update one of the most popular APS Press Compendia of all time. Compendium of Corn Diseases, Third Edition is completely rewritten and includes more than twice the information as the previous edition.

Mitochondrial Parts Pathways and Pathogenesis

Mitochondrial Parts  Pathways  and Pathogenesis Book
Author : Sarah E. Calvo,Harvard University--MIT Division of Health Sciences and Technology
Publisher : Unknown
Release : 2009
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 mitochondrial proteins, including the 13 encoded by the tiny mitochondrial genome. Now, newly available genomic technologies make it possible to identify the remainder and explore their roles in cellular pathways and disease. Toward this goal, we performed mass spectrometry, GFP tagging, and machine learning on multiple genomic datasets to create a mitochondrial compendium of 1098 genes and their protein expression across 14 mouse tissues. We linked poorly characterized proteins in this inventory to known mitochondrial pathways by virtue of shared evolutionary history. We additionally used our matched mRNA and protein measurements to demonstrate a widespread role of upstream open reading frames (uORFs) in blunting translation of mitochondrial and other cellular proteins. Next we used the mitochondrial protein inventory to identify genes underlying inherited diseases of mitochondrial dysfunction. In collaboration with clinicians, we identified causal mutations in five genes underlying diseases including hepatocerebral mtDNA depletion syndrome, autosomal dominant mitochondrial myopathy, and several forms of inherited complex I deficiency. These discoveries have enabled the development of diagnostic tests now widely available. More broadly, the mitochondrial compendium provides a foundation for systematically exploring the organelle's contribution to both basic cellular biology and human disease.

Annual Review of Genomics and Human Genetics

Annual Review of Genomics and Human Genetics Book
Author : Anonim
Publisher : Unknown
Release : 2010
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Annual Review of Genomics and Human Genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Tobacco Abstracts

Tobacco Abstracts Book
Author : Anonim
Publisher : Unknown
Release : 1994
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Tobacco Abstracts book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Compendium of Tobacco Diseases

Compendium of Tobacco Diseases Book
Author : H. D. Shew,George Blanchard Lucas,American Phytopathological Society
Publisher : Amer Phytopathological Society
Release : 1991
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 control practices -- Authoritative knowledge from leading plant scientists -- Discussion of major pathogens, including bacteria, fungi, nematodes, and insectsIncludes a separate section on disease management which covers integrated pest management and genetic modification.

Compendium of Alfalfa Diseases

Compendium of Alfalfa Diseases Book
Author : Donald L. Stuteville,Donald C. Erwin,American Phytopathological Society
Publisher : Amer Phytopathological Society
Release : 1990
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 whose technical training in field pathology of alfalfa may be limited.

Neuromuscular Function and Disease

Neuromuscular Function and Disease Book
Author : Anonim
Publisher : Unknown
Release : 2002
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Neuromuscular Function and Disease book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

2007 Compendium Of Selected Publications

2007 Compendium Of Selected Publications Book
Author : American College of Obstetricians and Gynecologists. Women's Health Care Physicians
Publisher : Unknown
Release : 2007-06-30
ISBN : 9781932328332
Language : En, Es, Fr & De

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Book Description :

Download 2007 Compendium Of Selected Publications book written by American College of Obstetricians and Gynecologists. Women's Health Care Physicians, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Chemical Abstracts

Chemical Abstracts Book
Author : Anonim
Publisher : Unknown
Release : 2002
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Chemical Abstracts book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Bioinformatics and Functional Genomics

Bioinformatics and Functional Genomics Book
Author : Jonathan Pevsner
Publisher : Wiley-Liss
Release : 2003-11-04
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 -- Protein analysis and proteomics -- Protein structure -- Multiple sequence alignment -- Molecular phylogeny and evolution -- Completed genomes and the tree of life -- Completed genomes: viruses -- Completed genomes: bacteria and archaea -- Eukaryotic genomes: fungi -- Eukaryotic genomes: from parasites to primates -- Human genome -- Human disease.

Cancer Research

Cancer Research Book
Author : Anonim
Publisher : Unknown
Release : 2006-08
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Cancer Research book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Molecular Aspects of Aging

Molecular Aspects of Aging Book
Author : K. Esser,G. M. Martin
Publisher : John Wiley & Son Limited
Release : 1995-09-13
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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 in their susceptibilities to these disorders will be of special significance to future medicine. To further this understanding, a unique dialogue was initiated between biologists, geneticists, biochemists, pathologists, immunologists, physicians, and other biomedical scientists concerned with the molecular mechanisms of aging, which is reflected in this volume. The authors consider model systems based on yeast, simple fungi, roundworms, fruitflies, mice, and humans. They review the current status of the evolutionary theory of aging, of oxidatively modified proteins as markers of aging, the role of mitochondrial and nuclear DNA damage in aging, and the pathogenic mechanisms in common geriatric disorders such as Alzheimer?s disease, Parkinson?s disease, atherosclerosis, and cancer. The reports summarize their debate on key issues: How can research on diverse model systems contribute to the understanding of the genetic basis of aging and longevity? Do research findings from diverse model systems support oxidative damage theories of aging? Does research on mitochondria in diverse model systems provide at least one unifying mechanism of aging? Do common underlying mechanisms of aging contribute to the pathogenesis of major geriatric disorders? Goal of this Dahlem Workshop: to examine molecular processes underlying genetic and physiological changes that occur with normal aging and geriatric disorders.

Principles of Child Neurology

Principles of Child Neurology Book
Author : Bruce O. Berg
Publisher : McGraw-Hill
Release : 1996
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Principles of Child Neurology is a comprehensive textbook on the diagnosis and management of neurologic disorders affecting neonates, infants, children, and adolescents. Patterned after Adams and Victor's Principles of Neurology, this text begins with ``Approach to the Patient,'' then details the cardinal manifestations and the major disease categories for diagnosing pediatric neurologic disorders.

Compendium of Awards

Compendium of Awards Book
Author : Tobacco-Related Disease Research Program (University of California (System))
Publisher : Unknown
Release : 2002
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Compendium of Awards book written by Tobacco-Related Disease Research Program (University of California (System)), available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Physician s Book Compendium

Physician s Book Compendium Book
Author : Anonim
Publisher : Unknown
Release : 1969
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Over 10,000 monographs currently in print about practice and research in the medical and biomedical sciences. Entries arranged by general medical specialties (e.g., allergy, geriatrics, surgery), then by subspecialties or other topics, andthen by authors. Most entries include author, title, publisher, publication, date, pages, price, and brief annotation. Author index.

Compendium of Problems in Genetics

Compendium of Problems in Genetics Book
Author : John Kuspira,Ramesh Bhambhani
Publisher : WCB/McGraw-Hill
Release : 1994
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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

Harrison s Principles of Internal Medicine 18th Edition

Harrison s Principles of Internal Medicine  18th Edition Book
Author : Dan Longo,Anthony Fauci,Dennis Kasper,Stephen Hauser,J. Jameson,Joseph Loscalzo
Publisher : McGraw Hill Professional
Release : 2011-07-22
ISBN : 0071748903
Language : En, Es, Fr & De

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Book Description :

The most widely read textbook in the history of medicine – made more essential to practice and education by an unmatched array of multi-media content Through six decades, no resource has matched the encyclopedic scope, esteemed scholarship, and scientific rigor of Harrison’s Principles of Internal Medicine, both as a textbook and as a clinical reference. It remains the most universally respected textbook in all of medical publishing and the pinnacle of current medical knowledge. The eighteenth edition of Harrison’s features expanded and more in-depth coverage of key issues in clinical medicine, pathophysiology, and medical education. The acclaimed Harrison’s DVD has been updated to include 53 chapters not found in the text; 14 all-new how-to videos commissioned specifically for Harrison’s; PowerPoint presentations on essential topics in medical education; and hundreds of bonus illustrations. Presented in two volumes NEW text design greatly enhances readability NEW chapters on cutting-edge topics in clinical medicine Expanded focus on global considerations of health and disease Editor-in-Chief: Dan Longo, MD (Boston, MA) is Professor of Medicine, Brigham and Women’s Hospital/Harvard Medical School.