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Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
From Genes to Clinical Manifestations

by Marni J. Falk

  • Publisher : Academic Press
  • Release : 2020-04-28
  • Pages : 548
  • ISBN : 0128200308
  • Language : En, Es, Fr & De
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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

2007 Compendium Of Selected Publications

2007 Compendium Of Selected Publications
A Book

by American College of Obstetricians and Gynecologists. Women's Health Care Physicians

  • Publisher : Unknown Publisher
  • Release : 2007-06-30
  • Pages : 329
  • ISBN : 9781932328332
  • Language : En, Es, Fr & De
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A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye
A Book

by Elias I. Traboulsi M.D.

  • Publisher : Oxford University Press
  • Release : 2005-12-01
  • Pages : 272
  • ISBN : 0190291060
  • Language : En, Es, Fr & De
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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.

Nature Encyclopedia of the Human Genome: Genome databases - Mitochondrial genome: Evolution

Nature Encyclopedia of the Human Genome: Genome databases - Mitochondrial genome: Evolution
A Book

by David Neil Cooper

  • Publisher : Unknown Publisher
  • Release : 2003
  • Pages : 1023
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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The recent completion of important phases of the Human Genome Project heralds a new era in biomedical research, ensuring that human genetics will remain at the forefront of the public, scientific and educational consciousness. 'The Nature Encyclopedia of the Human Genome' (Nature EHG) will be the first major reference resource devoted entirely to the scientific basis and ethical, philosophical and commercial ramifications of genome research. Nature EHG will contain 1,000 articles, specially written by the world's leading experts and structured in such a way that different subsets will be useful to students, teachers, academics, researchers, and other professionals. The articles will be extensively cross-referenced and indexed and will contain many tables and illustrations. Areas to be covered include structural genomics, functional genomics, evolution and comparative genomics, genome mapping and sequencing, chromosome structure and function, population and mathematical genetics, bioinformatics, proteomics, genes and disease, behavioural and psychiatric genetics and ethical, legal and social issues.

Knowledge and Systems Engineering

Knowledge and Systems Engineering
Proceedings of the Sixth International Conference KSE 2014

by Viet-Ha Nguyen,Anh-Cuong Le,Van-Nam Huynh

  • Publisher : Springer
  • Release : 2014-09-29
  • Pages : 692
  • ISBN : 3319116800
  • Language : En, Es, Fr & De
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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 on various topics including knowledge discovery and data mining, natural language processing, expert systems, intelligent decision making, computational biology, computational modeling, optimization algorithms, and industrial applications.

Compendium of Problems in Genetics

Compendium of Problems in Genetics
A Book

by John Kuspira,Ramesh Bhambhani

  • Publisher : WCB/McGraw-Hill
  • Release : 1994
  • Pages : 362
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Corresponds to Problems in Genetics as well as being keyed to 9 other genetics texts.

Bioinformatics and Functional Genomics

Bioinformatics and Functional Genomics
A Book

by Jonathan Pevsner

  • Publisher : John Wiley & Sons
  • Release : 2005-03-04
  • Pages : 792
  • ISBN : 0471459178
  • Language : En, Es, Fr & De
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Wiley is proud to announce the publication of the first ever broad-based textbook introduction to Bioinformatics and Functional Genomics by a trained biologist, experienced researcher, and award-winning instructor. In this new text, author Jonathan Pevsner, winner of the 2001 Johns Hopkins University "Teacher of the Year" award, explains problem-solving using bioinformatic approaches using real examples such as breast cancer, HIV-1, and retinal-binding protein throughout. His book includes 375 figures and over 170 tables. Each chapter includes: Problems, discussion of Pitfalls, Boxes explaining key techniques and math/stats principles, Summary, Recommended Reading list, and URLs for freely available software. The text is suitable for professionals and students at every level, including those with little to no background in computer science.

Compendium of Cucurbit Diseases

Compendium of Cucurbit Diseases
A Book

by Thomas Andrew Zitter,Donald L. Hopkins,Claude E. Thomas

  • Publisher : Amer Phytopathological Society
  • Release : 1996
  • Pages : 87
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Infectious diseases; Noinfections disorders; Disease of undetermined etiology; Postharvest handling; Field identification of selected cucurbit diseases with a hand lens.

Compendium of Corn Diseases

Compendium of Corn Diseases
A Book

by University of Illinois at Urbana-Champaign. Department of Crop Sciences

  • Publisher : Amer Phytopathological Society
  • Release : 1999
  • Pages : 78
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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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.

Proceedings

Proceedings
A Book

by Indian National Science Academy

  • Publisher : Unknown Publisher
  • Release : 1999
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Annual Review of Genomics and Human Genetics

Annual Review of Genomics and Human Genetics
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2010
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Compendium of Tobacco Diseases

Compendium of Tobacco Diseases
A Book

by H. D. Shew,George Blanchard Lucas,American Phytopathological Society

  • Publisher : Amer Phytopathological Society
  • Release : 1991
  • Pages : 68
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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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
A Book

by Donald L. Stuteville,Donald C. Erwin,American Phytopathological Society

  • Publisher : Amer Phytopathological Society
  • Release : 1990
  • Pages : 84
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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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
Basic, Clinical, and Electrodiagnostic Aspects

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2002
  • Pages : 1948
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Compendium of Turfgrass Diseases

Compendium of Turfgrass Diseases
A Book

by Richard W. Smiley,Peter H. Dernoeden,Bruce B. Clarke

  • Publisher : Amer Phytopathological Society
  • Release : 2005
  • Pages : 167
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Cancer Research

Cancer Research
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2006-08
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Chemical Abstracts

Chemical Abstracts
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2002
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Molecular Aspects of Aging

Molecular Aspects of Aging
A Book

by K. Esser,G. M. Martin

  • Publisher : John Wiley & Son Limited
  • Release : 1995-09-13
  • Pages : 302
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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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.

Mendelian Inheritance in Man

Mendelian Inheritance in Man
A Catalog of Human Genes and Genetic Disorders

by Victor A. McKusick

  • Publisher : Unknown Publisher
  • Release : 1998-06-29
  • Pages : 3972
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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The twelfth edition of this classic reference work includes: • More than 2,000 new entries • A total of more than 9,000 entries • New features and enhancement of the familiar old features • Mapping information on more than 4,000 genes of known function • Information on specific point mutations responsible for more than 700 genetic disorders or neoplasms Mendelian Inheritance in Man (MIM) is a genetic knowledgebase that serves clinical medicine and biomedical research, including the Human Genome Project. It aims to be comprehensive (not only complete, but also collated, integrated, and interpreted), authoritative (not only accurate but also sound in its interpretations and judgements), and timely (not only up-to-date but also historically dimensioned). From a review of the eleventh edition, Reproductive Toxicology: "Even the convenience of computer-based forms of MIM cannot eliminate the need for MIM in book form. The preface provides a wonderful synopsis of human genetics. The information contained in this text serves as a concise review for those with a genetics background." From a review of the tenth edition, New England Journal of Medicine: "[Victor McKusick] has been for all these years the shepherd of the development of the field [of clinical genetics]. Perhaps his most important pragmatic achievement has been the 10 editions of Mendelian Inheritance in Man, which rapidly became and has remained the principal source of information on inherited diseases for all clinical geneticists. "In addition to the erudite entries in the books, the references given with each description represent a magnificent bibliography of clinical genetics. With McKusick's leadership and continued interest in gene mapping, the book also rep-resents an important compen-dium of the location of genes on specific chromosomes. "The book is a magnificent security blanket for the clinical geneticist and should be in the libraries not only of these specialists, but also of all others who see patients with diseases that have genetic components."

Molecular Biology of the Cell

Molecular Biology of the Cell
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2001
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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