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Author : David N. Cooper
Publisher :
ISBN 13 :
Total Pages : 1010 pages
Book Rating : 4.:/5 (249 download)
Download or read book Mitochondrial Heteroplasmy and Disease - Relatives-based Tests of Association written by David N. Cooper and published by . This book was released on 2003 with total page 1010 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher :
ISBN 13 :
Total Pages : 1010 pages
Book Rating : 4.:/5 (315 download)
Download or read book Encyclopedia of the Human Genome written by and published by . This book was released on 2005 with total page 1010 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Nature Encyclopedia of the Human Genome written by and published by . This book was released on 2003 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Patrick F. Chinnery
Publisher : Cambridge University Press
ISBN 13 : 0521132983
Total Pages : 229 pages
Book Rating : 4.5/5 (211 download)
Download or read book Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Author : Saskia Koene
Publisher :
ISBN 13 : 9789081773706
Total Pages : 135 pages
Book Rating : 4.7/5 (737 download)
Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : David Neil Cooper
Publisher :
ISBN 13 :
Total Pages : 1058 pages
Book Rating : 4.3/5 (91 download)
Download or read book Nature Encyclopedia of the Human Genome: Mitochondrial heteroplasmy and disease - Relatives-based test for linkage disequilibrium: the transmission written by David Neil Cooper and published by . This book was released on 2003 with total page 1058 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Lawrence H. Lash
Publisher : Elsevier
ISBN 13 : 1483218619
Total Pages : 527 pages
Book Rating : 4.4/5 (832 download)
Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.
Author : Ian James Holt
Publisher :
ISBN 13 : 9781383021967
Total Pages : 0 pages
Book Rating : 4.0/5 (219 download)
Download or read book Genetics of Mitochondrial Diseases written by Ian James Holt and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text summarises the advances in human mitochondrial genetics made at the end of the 20th century. Numerous mutations of mitochondrial DNA have been discovered as well as mitochondrial diseases, which have been linked to a number of nuclear gene mutations.
Author : H.F. Baars
Publisher : Springer Science & Business Media
ISBN 13 : 1849964718
Total Pages : 453 pages
Book Rating : 4.8/5 (499 download)
Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
Author : Volkmar Weissig
Publisher : Humana
ISBN 13 : 9781493956050
Total Pages : 0 pages
Book Rating : 4.9/5 (56 download)
Download or read book Mitochondrial Medicine written by Volkmar Weissig and published by Humana. This book was released on 2016-10-05 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This expert volume covers an interdisciplinary and rapidly growing area of biomedical research comprising genetic, biochemical, pathological, and clinical studies aimed at the diagnosis and therapy of human diseases which are either caused by or associated with mitochondrial dysfunction. It dedicates itself to showcasing the tremendous efforts and the progress that has been made over the last decades in developing techniques and protocols for probing, imaging, and manipulating mitochondrial functions. Mitochondrial Medicine: Volume II, Manipulating Mitochondrial Function describes techniques developed for manipulating and assessing mitochondrial function under general pathological conditions and specific disease states. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Comprehensive and practical, Mitochondrial Medicine provides an essential source of know-how and inspiration to all researchers who are fascinated by this tiny organelle that seems so clearly to control the life and death of a single cell and whole organisms alike.
Author : Fabrizio Barbetti
Publisher :
ISBN 13 : 9783318060249
Total Pages : 0 pages
Book Rating : 4.0/5 (62 download)
Download or read book Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities written by Fabrizio Barbetti and published by . This book was released on 2017 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich's ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.
Author :
Publisher : Newnes
ISBN 13 : 0444595775
Total Pages : 731 pages
Book Rating : 4.4/5 (445 download)
Download or read book Pediatric Neurology, Part III written by and published by Newnes. This book was released on 2013-04-24 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Author : Carmen Espinós
Publisher : Springer Science & Business Media
ISBN 13 : 9048128137
Total Pages : 311 pages
Book Rating : 4.0/5 (481 download)
Download or read book Inherited Neuromuscular Diseases written by Carmen Espinós and published by Springer Science & Business Media. This book was released on 2010-03-11 with total page 311 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.
Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309477646
Total Pages : 155 pages
Book Rating : 4.3/5 (94 download)
Download or read book Nutrigenomics and the Future of Nutrition written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2018-08-27 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: On December 5, 2017, the National Academies of Sciences, Engineering, and Medicine hosted a public workshop titled Nutrigenomics and the Future of Nutrition in Washington, DC, to review current knowledge in the field of nutrigenomics as it relates to nutrition. Workshop participants explored the influence of genetic and epigenetic expression on nutritional status and the potential impact of personalized nutrition on health maintenance and chronic disease prevention. This publication summarizes the presentations and discussions from the workshop.
Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309388708
Total Pages : 201 pages
Book Rating : 4.3/5 (93 download)
Download or read book Mitochondrial Replacement Techniques written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-04-17 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial replacement techniques (MRTs) are designed to prevent the transmission of mitochondrial DNA (mtDNA) diseases from mother to child. While MRTs, if effective, could satisfy a desire of women seeking to have a genetically related child without the risk of passing on mtDNA disease, the technique raises significant ethical and social issues. It would create offspring who have genetic material from two women, something never sanctioned in humans, and would create mitochondrial changes that could be heritable (in female offspring), and therefore passed on in perpetuity. The manipulation would be performed on eggs or embryos, would affect every cell of the resulting individual, and once carried out this genetic manipulation is not reversible. Mitochondrial Replacement Techniques considers the implications of manipulating mitochondrial content both in children born to women as a result of participating in these studies and in descendants of any female offspring. This study examines the ethical and social issues related to MRTs, outlines principles that would provide a framework and foundation for oversight of MRTs, and develops recommendations to inform the Food and Drug Administration's consideration of investigational new drug applications.
Author : Florence Louise Marlow
Publisher : Morgan & Claypool Publishers
ISBN 13 : 161504051X
Total Pages : 221 pages
Book Rating : 4.6/5 (15 download)
Download or read book Maternal Control of Development in Vertebrates written by Florence Louise Marlow and published by Morgan & Claypool Publishers. This book was released on 2010 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: Eggs of all animals contain mRNAs and proteins that are supplied to or deposited in the egg as it develops during oogenesis. These maternal gene products regulate all aspects of oocyte development, and an embryo fully relies on these maternal gene products for all aspects of its early development, including fertilization, transitions between meiotic and mitotic cell cycles, and activation of its own genome. Given the diverse processes required to produce a developmentally competent egg and embryo, it is not surprising that maternal gene products are not only essential for normal embryonic development but also for fertility. This review provides an overview of fundamental aspects of oocyte and early embryonic development and the interference and genetic approaches that have provided access to maternally regulated aspects of vertebrate development. Some of the pathways and molecules highlighted in this review, in particular, Bmps, Wnts, small GTPases, cytoskeletal components, and cell cycle regulators, are well known and are essential regulators of multiple aspects of animal development, including oogenesis, early embryogenesis, organogenesis, and reproductive fitness of the adult animal. Specific examples of developmental processes under maternal control and the essential proteins will be explored in each chapter, and where known conserved aspects or divergent roles for these maternal regulators of early vertebrate development will be discussed throughout this review. Table of Contents: Introduction / Oogenesis: From Germline Stem Cells to Germline Cysts / Oocyte Polarity and the Embryonic Axes: The Balbiani Body, an Ancient Oocyte Asymmetry / Preparing Developmentally Competent Eggs / Egg Activation / Blocking Polyspermy / Cleavage/ Mitosis: Going Multicellular / Maternal-Zygotic Transition / Reprogramming: Epigenetic Modifications and Zygotic Genome Activation / Dorsal-Ventral Axis Formation before Zygotic Genome Activation in Zebrafish and Frogs / Maternal TGF-β and the Dorsal-Ventral Embryonic Axis / Maternal Control After Zygotic Genome Activation / Compensation by Stable Maternal Proteins / Maternal Contributions to Germline Establishment or Maintenance / Perspective / Acknowledgments / References
Author : Keshav Singh
Publisher : Springer Science & Business Media
ISBN 13 : 0387848355
Total Pages : 294 pages
Book Rating : 4.3/5 (878 download)
Download or read book Mitochondria and Cancer written by Keshav Singh and published by Springer Science & Business Media. This book was released on 2009-04-05 with total page 294 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nearly a century of scientific research has revealed that mitochondrial dysfunction is one of the most common and consistent phenotypes of cancer cells. A number of notable differences in the mitochondria of normal and cancer cells have been described. These include differences in mitochondrial metabolic activity, molecular composition of mitochondria and mtDNA sequence, as well as in alteration of nuclear genes encoding mitochondrial proteins. This book, Mitochondria and Cancer, edited by Keshav K. Singh and Leslie C. Costello, presents thorough analyses of mitochondrial dysfunction as one of the hallmarks of cancer, discusses the clinical implications of mitochondrial defects in cancer, and as unique cellular targets for novel and selective anti-cancer therapy.
