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• Author : Marni J. Falk
• Publisher :Unknown
• Release Date :2020-05
• Total pages :424
• ISBN : 9780128200292

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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 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.

• Author : Marni J. Falk
• Publisher :Unknown
• Release Date :2020-04-28
• Total pages :548
• ISBN : 9780128200308

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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 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

• Author : Michelangelo Mancuso,Thomas Klopstock
• Publisher :Unknown
• Release Date :2019-05-03
• Total pages :382
• ISBN : 9783030055172

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Summary : 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.

• Author : Salvatore DiMauro,Michio Hirano,Eric A. Schon
• Publisher :Unknown
• Release Date :2019-11-29
• Total pages :16
• ISBN : 0367446367

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Summary : 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.

• Author : Anonim
• Publisher :Unknown
• Release Date :2021
• Total pages :229
• ISBN : 9789814467353

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Summary :

• Author : Nicholas T. Potter
• Publisher :Unknown
• Release Date :2003
• Total pages :390
• ISBN : 9781592593309

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Summary : An international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing neurologically relevant genes, their mutations, and their proteins. Providing detailed step-by-step instructions to assure successful experimental results, these experts cover the key methods for mutation detection and screening, including discussions of quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression. Understand the functional consequences of neurologically relevant gene mutations Enjoy a comprehensive collection of techniques for mutation detection and screening.

• Author : Elias I. Traboulsi M.D.
• Publisher :Unknown
• Release Date :2005-12-01
• Total pages :272
• ISBN : 9780190291068

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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 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.

• Author : Shengyi Liu (Plant geneticist),Rod Snowdon,Boulos Chalhoub
• Publisher :Unknown
• Release Date :2018
• Total pages :283
• ISBN : 3319436937

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Summary : "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 genome sequence to identify and capture diversity for important agronomic traits, including seed quality and disease resistance. The increased potential for detailed gene discovery using high-density genetic mapping, quantitative genetics and transcriptomic analyses is described in the context of genome availability and illustrated with recent examples. Intimate knowledge of the highly-duplicated gene space, on the one hand, and the repeat landscape on the other, particularly in comparison to the two diploid progenitor genomes, provide a fundamental basis for new insights into the regulatory mechanisms that are coupled with selection for polyploid success and crop evolution"--Publisher's description.

• Author : Roger N. Rosenberg,Juan M. Pascual
• Publisher :Unknown
• Release Date :2020-06-24
• Total pages :828
• ISBN : 9780128138670

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Summary : Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume Two provides a comprehensive introduction and reference to the foundations and practical aspects relevant to the majority of neurologic and psychiatric disease. This updated volume focuses on degenerative disorders, movement disorders, neuro-oncology, neurocutaneous disorders, epilepsy, white matter diseases, neuropathies and neuronopathies, muscle and neuromuscular junction disorders, stroke, psychiatric disease, and a neurologic gene map. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands on the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, related professionals, and for the neuroscience and neurology research community at large. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Provides comprehensive coverage on the neurogenetic foundation of neurological and psychiatric disease Presents detailed coverage of genomics, animal models and diagnostic methods, with new coverage on evaluating patients with biochemical abnormalities or gene mutations Includes new chapters on the pharmacogenomics of epilepsy and the most recent updates in molecular genetics, focusing on neurodegenerative and psychiatric diseases

• Author : Paulo J. Oliveira
• Publisher :Unknown
• Release Date :2018-03-21
• Total pages :708
• ISBN : 9783319733449

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Summary : This book addresses the therapeutic strategies to target mitochondrial metabolism in diseases where the function of that organelle is compromised, and it discusses the effective strategies used to create mitochondrial-targeted agents that can become commercially available drug delivery platforms. The consistent growth of research focused in understanding the multifaceted role of mitochondria in cellular metabolism, controlling pathways related with cell death, and ionic/redox regulation has extended the research of mitochondrial chemical-biological interactions to include various pharmacological and toxicological applications. Not only does the book extensively cover basic mitochondrial physiology, but it also links the molecular interactions within these pathways to a variety of diseases. It is one of the first books to combine state-of-the-art reviews regarding basic mitochondrial biology, the role of mitochondrial alterations in different diseases, and the importance of that organelle as a target for pharmacological and non-pharmacological interventions to improve human health. The different chapters highlight the chemical-biological linkages of the mitochondria in context with drug development and clinical applications.

• Author : Austin BURT,Robert Trivers,Austin Burt
• Publisher :Unknown
• Release Date :2009-06-30
• Total pages :612
• ISBN : 9780674029118

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Summary : Covering all species from yeast to humans, this is the first book to tell the story of selfish genetic elements that act narrowly to advance their own replication at the expense of the larger organism.

• Author : P. K. Gupta
• Publisher :Unknown
• Release Date :2008
• Total pages :613
• ISBN : 8171337198

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Summary : PART I Molecular Biology 1. Molecular Biology and Genetic Engineering Definition, History and Scope 2. Chemistry of the Cell: 1. Micromolecules (Sugars, Fatty Acids, Amino Acids, Nucleotides and Lipids) Sugars (Carbohydrates) 3. Chemistry of the Cell . 2. Macromolecules (Nucleic Acids; Proteins and Polysaccharides) Covalent and Weak Non-covalent Bonds 4. Chemistry of the Gene: Synthesis, Modification and Repair of DNA DNA Replication: General Features 5. Organisation of Genetic Material 1. Packaging of DNA as Nucleosomes in Eukaryotes Techniques Leading to Nucleosome Discovery 6. Organization of Genetic Material 2. Repetitive and Unique DNA Sequences 7. Organization of Genetic Material: 3. Split Genes, Overlapping Genes, Pseudogenes and Cryptic Genes Split Genes or .Interrupted Genes 8. Multigene Families in Eukaryotes 9. Organization of Mitochondrial and Chloroplast Genomes 10. The Genetic Code 11. Protein Synthesis Apparatus Ribosome, Transfer RNA and Aminoacyl-tRNA Synthetases Ribosome 12. Expression of Gene . Protein Synthesis 1. Transcription in Prokaryotes and Eukaryotes 13. Expression of Gene: Protein Synthesis: 2. RNA Processing (RNA Splicing, RNA Editing and Ribozymes) Polyadenylation of mRNA in Prokaryotes Addition of Cap (m7G) and Tail (Poly A) for mRNA in Eukaryotes 14. Expression of Gene: Protein Synthesis: 3. Synthesis and Transport of Proteins (Prokaryotes and Eukaryotes) Formation of Aminoacyl tRNA 15. Regulation of Gene Expression: 1. Operon Circuits in Bacteria and Other Prokaryotes 16. Regulation of Gene Expression . 2. Circuits for Lytic Cycle and Lysogeny in Bacteriophages 17. Regulation of Gene Expression 3. A Variety of Mechanisms in Eukaryotes (Including Cell Receptors and Cell Signalling) PART II Genetic Engineering 18. Recombinant DNA and Gene Cloning 1. Cloning and Expression Vectors 19. Recombinant DNA and Gene Cloning 2. Chimeric DNA, Molecular Probes and Gene Libraries 20. Polymerase Chain Reaction (PCR) and Gene Amplification 21. Isolation, Sequencing and Synthesis of Genes 22. Proteins: Separation, Purification and Identification 23. Immunotechnology 1. B-Cells, Antibodies, Interferons and Vaccines 24. Immunotechnology 2. T-Cell Receptors and MHC Restriction 25. Immunotechnology 3. Hybridoma and Monoclonal Antibodies (mAbs) Hybridoma Technology and the Production of Monoclonal Antibodies 26. Transfection Methods and Transgenic Animals 27. Animal and Human Genomics: Molecular Maps and Genome Sequences Molecular Markers 28. Biotechnology in Medicine: l.Vaccines, Diagnostics and Forensics Animal and Human Health Care 29. Biotechnology in Medicine 2. Gene Therapy Human Diseases Targeted for Gene Therapy Vectors and Other Delivery Systems for Gene Therapy 30. Biotechnology in Medicine: 3. Pharmacogenetics / Pharmacogenomics and Personalized Medicine Phannacogenetics and Personalized 31. Plant Cell and Tissue Culture' Production and Uses of Haploids 32. Gene Transfer Methods in Plants 33. Transgenic Plants . Genetically Modified (GM) Crops and Floricultural Plants 34. Plant Genomics: 35. Genetically Engineered Microbes (GEMs) and Microbial Genomics References

• Author : University of Illinois at Urbana-Champaign. Department of Crop Sciences
• Publisher :Unknown
• Release Date :1999
• Total pages :78
• ISBN : STANFORD:36105028567886

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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 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.

• Author : Mathilde Causse,Jim Giovannoni,Mondher Bouzayen,Mohamed Zouine
• Publisher :Unknown
• Release Date :2016-11-21
• Total pages :259
• ISBN : 9783662533895

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Summary : This book describes the strategy used for sequencing, assembling and annotating the tomato genome and presents the main characteristics of this sequence with a special focus on repeated sequences and the ancestral polyploidy events. It also includes the chloroplast and mitochondrial genomes. Tomato (Solanum lycopersicum) is a major crop plant as well as a model for fruit development, and the availability of the genome sequence has completely changed the paradigm of the species’ genetics and genomics. The book describes the numerous genetic and genomic resources available, the identified genes and quantitative trait locus (QTL) identified, as well as the strong synteny across Solanaceae species. Lastly, it discusses the consequences of the availability of a high-quality genome sequence of the cultivated species for the research community. It is a valuable resource for students and researchers interested in the genetics and genomics of tomato and Solanaceae.

• Author : Victor R. Preedy
• Publisher :Unknown
• Release Date :2010-07-19
• Total pages :650
• ISBN : 9781439845431

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Summary : Targeting the key active elements in the mechanism and application of apoptosis and its therapeutic implications, Apoptosis: Modern Insights into Disease from Molecules to Man covers apoptosis from A to Z. Comprehensive in scope, it explores a wide range of topics including various cancers, asthma, and multiple sclerosis as well as alcohol induced liver disease, chronic back pain, and cardiovascular health. With 40 chapters written by highly respected authorities, this single source reference provides researchers and scientists with the foundation they need.

• Author : Stephen Strakowski
• Publisher :Unknown
• Release Date :2012-07-26
• Total pages :280
• ISBN : 9780199797608

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Summary : In this book, experts in neuroimaging and genetics discuss recent discoveries in bipolar disorder, leading to an integrated neurophysiologic model of this condition. This model provides a substrate for future investigations to, hopefully, lead to better understanding of this illness in order to develop improved therapies for affected individuals.

• Author : Lee-Jun C. Wong
• Publisher :Unknown
• Release Date :2013-05-31
• Total pages :302
• ISBN : 9781461470014

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Summary : In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future. ​

• Author : Sarah E. Calvo,Harvard University--MIT Division of Health Sciences and Technology
• Publisher :Unknown
• Release Date :2009
• Total pages :163
• ISBN : OCLC:551147715

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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 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.

• Author : Robert J. Henry
• Publisher :Unknown
• Release Date :2005
• Total pages :332
• ISBN : 0851999042

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Summary : Importance of plant diversity; Relationships between the families of flowering plants; Diversity and evolution of gymnosperms; Chloroplast genomes of plants; The mitochondrial genome of higher plants: a target for natural adaptation; Reticulate evolution in higher plants; Crucifer evolution in the post-genomic era; Genetic variation in plant populations: assessing cause an pattern; Evolution of the flower; Diversity in plant cell walls; Diversity in secondary metabolism in plants; Ecological importance of species diversity; Genomic diversity in nature and domestication; Conserving genetic diversity in plants of environmental, social or economic importance.

• Author : Daskalaki, Andriani
• Publisher :Unknown
• Release Date :2008-11-30
• Total pages :982
• ISBN : 9781605660776

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Summary : "This book highlights the use of systems approaches including genomic, cellular, proteomic, metabolomic, bioinformatics, molecular, and biochemical, to address fundamental questions in complex diseases like cancer diabetes but also in ageing"--Provided by publisher.

• Author : Massachusetts General Hospital and McLean Hospital Residents and Faculties
• Publisher :Unknown
• Release Date :2011-11-29
• Total pages :288
• ISBN : 9781451165890

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Summary : Prepared by the residents and faculties of the renowned Massachusetts General Hospital and McLean Hospital, this pocket handbook is packed with succinct, practical, accessible information on the diagnosis and treatment of psychiatric disorders. Major sections include psychiatric emergencies, symptom-based diagnosis and treatment, special populations, and treatment approaches including psychopharmacology. The book is written in a quick-scanning outline format with boxes, tables, and lists to provide high-yield information at a glance.