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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 : 2020-04-28
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

Mitochondrial Disorders Biochemical and Molecular Basis of Disease

Mitochondrial Disorders  Biochemical and Molecular Basis of Disease Book
Author : Grant M. Hatch
Publisher : Frontiers Media SA
Release : 2022-01-11
ISBN : 2889740218
Language : En, Es, Fr & De

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Book Description :

Download Mitochondrial Disorders Biochemical and Molecular Basis of Disease book written by Grant M. Hatch, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

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.

Diagnosis and Management of Mitochondrial Disorders

Diagnosis and Management of Mitochondrial Disorders Book
Author : Michelangelo Mancuso,Thomas Klopstock
Publisher : Springer
Release : 2019-05-03
ISBN : 3030055175
Language : En, Es, Fr & De

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Book Description :

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 and biologists.

2008 Compendium of Selected Publications

2008 Compendium of Selected Publications Book
Author : American College of Obstetricians and Gynecologists
Publisher : Unknown
Release : 2008-02
ISBN : 9781932328448
Language : En, Es, Fr & De

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Book Description :

Download 2008 Compendium of Selected Publications book written by American College of Obstetricians and Gynecologists, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Knowledge and Systems Engineering

Knowledge and Systems Engineering Book
Author : Viet-Ha Nguyen,Anh-Cuong Le,Van-Nam Huynh
Publisher : Springer
Release : 2014-09-29
ISBN : 3319116800
Language : En, Es, Fr & De

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Book Description :

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.

Mitochondrial Medicine

Mitochondrial Medicine Book
Author : Salvatore DiMauro,Michio Hirano,Eric A. Schon
Publisher : CRC Press
Release : 2019-11-26
ISBN : 9780367446369
Language : En, Es, Fr & De

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Book Description :

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, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.

Inherited Metabolic Diseases

Inherited Metabolic Diseases Book
Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Release : 2009-11-21
ISBN : 3540747230
Language : En, Es, Fr & De

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Book Description :

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. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

The ABC Transporters of Human Physiology and Disease

The ABC Transporters of Human Physiology and Disease Book
Author : Kenneth J. Linton,I. B. Holland
Publisher : World Scientific
Release : 2011
ISBN : 9814280062
Language : En, Es, Fr & De

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Book Description :

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 one volume will provide students, professors and medical professionals with a background to the human ABC transporters that are known to be relevant to diseases. Each of the 14 chapters is written by a leading researcher in the field and includes contributions from Joe Bryan and Lydia Aguilar-Bryan, Kazu Ueda, Jack Riordan and Robert Tamp. The genetics, structure and function of the proteins, and the future direction of research including the implications for human health are discussed in depth.

Lymphedema

Lymphedema Book
Author : Byung-Boong Lee,Stanley G. Rockson,John Bergan
Publisher : Springer
Release : 2018-01-10
ISBN : 3319524232
Language : En, Es, Fr & De

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Book Description :

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 today’s practice requirements. It addresses the challenges faced by clinicians in the management of chronic lymphedema enabling them to meet the medical needs of this large patient community. Edited by world leaders in Vascular Medicine and Surgery, this comprehensive volume provides clear, concise background and recommendations in an easy-to-use format. It is a valuable reference tool for clinical practitioners (physicians/nurse practitioners/technicians) who wish to deliver state-of-the-art health care to their patients with lymphatic and venous disorders.

The Neurospora Compendium

The Neurospora Compendium Book
Author : David D. Perkins,Alan Radford,Matthew S. Sachs
Publisher : Academic Press
Release : 2000-10-16
ISBN : 9780125507516
Language : En, Es, Fr & De

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Book Description :

The fungi have been major players in the molecular revolution that has transformed biology. Because they can be manipulated as microorganisms, yeast and Neurospora provide information that is difficult to acquire with plants and animals, and experimental findings with fungi often throw light on corresponding processes in plants and animals. The filamentous fungus Neurospora crassa has become a valuable model organism because of its favorable features for genetic analysis and because of the vast store of information that has been acquired during 75 years of research. This compendium provides researchers and students with a concise account of current knowledge about the genes and genome of Neurospora, setting the stage for research that will follow completion of the genome sequence. This book, which is fully documented and abundantly illustrated, will be an indispensable tool in any laboratory that uses fungi for research in molecular genetics, classical genetics, developmental genetics, or cell biology. Molecular, genetic, and phenotypic information for over 1000 nuclear genes Genetic maps Linkage group assignments for 1000 loci 2300 references, 68 figures Guide to electronic and other sources of information Summary information on the mitochondrial genome cDNAs identified from different stages of life Classical, cytogenetic, and molecular data, anticipating completion of the genome sequence

Primary Cilia

Primary Cilia Book
Author : Anonim
Publisher : Academic Press
Release : 2009-11-30
ISBN : 9780080962825
Language : En, Es, Fr & De

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Book Description :

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 adaptable across model systems, and designed to last the test of time * Relevant to clinicians and scientists working in a wide range of fields

Stroke Genetics

Stroke Genetics Book
Author : Hugh S. Markus
Publisher : Oxford Medical Publications
Release : 2003
ISBN : 0198515863
Language : En, Es, Fr & De

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Book Description :

Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. Anincreasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke.Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemicstroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence isreviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing apractical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.

The Mango Genome

The Mango Genome Book
Author : Chittaranjan Kole
Publisher : Springer Nature
Release : 2021-03-27
ISBN : 3030478297
Language : En, Es, Fr & De

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Book Description :

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 benefit the students, teachers, and scientists in academia and at private companies interested in horticulture, genetics, breeding, pathology, entomology, physiology, molecular genetics and breeding, in vitro culture & genetic engineering, and structural and functional genomics.

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 :

Bioinformatics and Functional Genomics provides a broad-based introduction to bioinformatics by following three real-world examples throughout the book: retinol-binding protein, breast cancer, and a calcium binding site C2. The author emphasizes the use of computational tools and databases to study connections between the structure of proteins and genes to function, development, evolution, and disease. Readers learn real skills, such as how to analyze genes and proteins, how to make trees using phylogenetic software, how to extract data, and how to identify genes and proteins implicated in diseases.

The Wild Oryza Genomes

The Wild Oryza Genomes Book
Author : Tapan K. Mondal,Robert J. Henry
Publisher : Springer
Release : 2018-02-15
ISBN : 3319719971
Language : En, Es, Fr & De

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Book Description :

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 is extremely diverse, as indicated by a wide range of chromosome numbers, different ploidy levels and genome sizes. After a 13-year gap from the first sequencing of rice in the 2002, the genomes of 11 wild Oryza species have now been sequenced and more will follow. These vast genomic resources are extremely useful for addressing several basic questions on the origin of the genus, evolutionary relationships between the species, domestication, and environmental adaptation, and also help to substantiate molecular breeding and pre-breeding work to introgress useful characters horizontally from wild species into cultivated rice.

Cardiovascular Genetics and Genomics

Cardiovascular Genetics and Genomics Book
Author : Dhavendra Kumar,Perry Elliott
Publisher : Springer
Release : 2018-01-17
ISBN : 3319661140
Language : En, Es, Fr & De

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Book Description :

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 clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

Vademecum Metabolicum

Vademecum Metabolicum Book
Author : Johannes Zschocke,Georg Friedrich Hoffmann
Publisher : Schattauer Verlag
Release : 2011
ISBN : 3794528166
Language : En, Es, Fr & De

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Book Description :

Download Vademecum Metabolicum book written by Johannes Zschocke,Georg Friedrich Hoffmann, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Wild Solanums Genomes

The Wild Solanums Genomes Book
Author : Domenico Carputo,Riccardo Aversano,Maria Raffaella Ercolano
Publisher : Springer Nature
Release : 2021-09-21
ISBN : 3030303438
Language : En, Es, Fr & De

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Book Description :

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 as genes that are lacking in the cultivated species. Wild Solanums have not been fully exploited by breeders. This is mainly due to the lack of information regarding their genetics and genomics. However, the genome of important cultivated Solanaceae such as potato, tomato, eggplant, and pepper has already been sequenced. On the heels of these recent developments, wild Solanum genomes are now becoming available, opening an exciting new era for both basic research and varietal development in the Solanaceae.