Mitochondrial Disease Genes Compendium Book

Mitochondrial Disease Genes Compendium


  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release Date : 2020-05
  • Genre: Science
  • Pages : 424
  • ISBN 10 : 9780128200292

GET BOOK
Mitochondrial Disease Genes Compendium Excerpt :

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 gen

Mitochondrial Disease Genes Compendium Book

Mitochondrial Disease Genes Compendium


  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release Date : 2020-04-28
  • Genre: Science
  • Pages : 548
  • ISBN 10 : 9780128200308

GET BOOK
Mitochondrial Disease Genes Compendium Excerpt :

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 g

Diagnosis and Management of Mitochondrial Disorders Book

Diagnosis and Management of Mitochondrial Disorders


  • Author : Michelangelo Mancuso
  • Publisher : Springer
  • Release Date : 2019-05-03
  • Genre: Medical
  • Pages : 382
  • ISBN 10 : 9783030055172

GET BOOK
Diagnosis and Management of Mitochondrial Disorders Excerpt :

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.

Mitochondrial Parts  Pathways  and Pathogenesis Book

Mitochondrial Parts Pathways and Pathogenesis


  • Author : Sarah E. Calvo
  • Publisher : Unknown
  • Release Date : 2009
  • Genre: Uncategoriezed
  • Pages : 163
  • ISBN 10 : OCLC:551147715

GET BOOK
Mitochondrial Parts Pathways and Pathogenesis Excerpt :

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.

Mitochondrial Medicine Book

Mitochondrial Medicine


  • Author : Salvatore DiMauro
  • Publisher : CRC Press
  • Release Date : 2019-11-26
  • Genre: Uncategoriezed
  • Pages : null
  • ISBN 10 : 0367446367

GET BOOK
Mitochondrial Medicine Excerpt :

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 Book

Inherited Metabolic Diseases


  • Author : Georg F. Hoffmann
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-11-21
  • Genre: Medical
  • Pages : 386
  • ISBN 10 : 9783540747239

GET BOOK
Inherited Metabolic Diseases Excerpt :

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.

Compendium of Selected Publications Book

Compendium of Selected Publications


  • Author : American College of Obstetricians and Gynecologists
  • Publisher : Unknown
  • Release Date : 2007
  • Genre: Gynecology
  • Pages : null
  • ISBN 10 : UOM:39015045511352

GET BOOK
Compendium of Selected Publications Excerpt :

A compilation of selected ACOG clinical practice guidelines.

Knowledge and Systems Engineering Book

Knowledge and Systems Engineering


  • Author : Viet-Ha Nguyen
  • Publisher : Springer
  • Release Date : 2014-09-29
  • Genre: Technology & Engineering
  • Pages : 692
  • ISBN 10 : 9783319116808

GET BOOK
Knowledge and Systems Engineering Excerpt :

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.

The ABC Transporters of Human Physiology and Disease Book

The ABC Transporters of Human Physiology and Disease


  • Author : Kenneth J. Linton
  • Publisher : World Scientific
  • Release Date : 2011
  • Genre: Science
  • Pages : 451
  • ISBN 10 : 9789814280068

GET BOOK
The ABC Transporters of Human Physiology and Disease Excerpt :

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.

The Ocimum Genome Book

The Ocimum Genome


  • Author : Ajit Kumar Shasany
  • Publisher : Springer
  • Release Date : 2018-10-04
  • Genre: Science
  • Pages : 148
  • ISBN 10 : 9783319974309

GET BOOK
The Ocimum Genome Excerpt :

This book provides an overview of the Ocimum genus from its genetic diversity to genome sequences, metabolites and their therapeutic utilities. Tulasi, Ocimum tenuiflorum, as a member of the family Lamiaceae, is a sacred plant in India. The plants of this genus Ocimum are collectively referred to as Basil and holy basil is worshipped in the Hindu religion. Basils are reservoirs of diverse terpenoids, phenylpropanoids and flavonoids, in addition to commercially important aromatic essential oils. In 2016, two working groups in India published the genome sequence in two different genotypes of Ocimum tenuiflorum. To help the readers understand the complexities of the genus and different chemotypes, this book accumulates all the available information on this medicinal plant including the genome. The complete knowledge may enable researchers to generate specific chemotypes in basil either through conventional breeding or development of transgenic lines. It also makes it possible to investigate the medicinal nature of holy basil compared to different species of the same genus.

Modern Medical Genetics and Genomics Book

Modern Medical Genetics and Genomics


  • Author : Israel Gomy
  • Publisher : BoD – Books on Demand
  • Release Date : 2019-12-18
  • Genre: Medical
  • Pages : 104
  • ISBN 10 : 9781839681424

GET BOOK
Modern Medical Genetics and Genomics Excerpt :

The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.

The Wild Oryza Genomes Book

The Wild Oryza Genomes


  • Author : Tapan K. Mondal
  • Publisher : Springer
  • Release Date : 2018-02-15
  • Genre: Science
  • Pages : 300
  • ISBN 10 : 9783319719979

GET BOOK
The Wild Oryza Genomes Excerpt :

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.

Lymphedema Book

Lymphedema


  • Author : Byung-Boong Lee
  • Publisher : Springer
  • Release Date : 2018-01-10
  • Genre: Medical
  • Pages : 972
  • ISBN 10 : 9783319524238

GET BOOK
Lymphedema Excerpt :

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 Mango Genome Book

The Mango Genome


  • Author : Chittaranjan Kole
  • Publisher : Springer Nature
  • Release Date : 2021-03-27
  • Genre: Science
  • Pages : 228
  • ISBN 10 : 9783030478292

GET BOOK
The Mango Genome Excerpt :

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.