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Genetic Instabilities And Neurological Diseases
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Book Synopsis Genetic Instabilities and Neurological Diseases by : Robert D. Wells
Download or read book Genetic Instabilities and Neurological Diseases written by Robert D. Wells and published by Elsevier. This book was released on 2011-10-13 with total page 783 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Instabilities and Neurological Diseases covers DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. Contributions by most of the principal research teams in the area, edited by world-renowned leaders Lays the background for future investigations on related diseases
Book Synopsis Genetic Instabilities and Hereditary Neurological Diseases by : Robert D. Wells
Download or read book Genetic Instabilities and Hereditary Neurological Diseases written by Robert D. Wells and published by . This book was released on 1998 with total page 886 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book represents the first authoritative review of all neurological diseases related to repeat expansions. Some of the diseases covered in this volume include fragile X syndrome, spino and bulbar muscular atrophy, myotonic dystrophy, spinocerebellar ataxia type 1 and type 7, Huntingtons disease, and Friedreichs ataxia. The book describes investigations into the underlying molecular mechanisms responsible for these syndromes. For students and researchers alike, Genetic Instabilities and Hereditary Neurological Diseases serves as a comprehensive treatise covering many aspects of all neurological diseases.
Book Synopsis Mechanism and Genetic Susceptibility of Neurological Disorders by : Andleeb Khan
Download or read book Mechanism and Genetic Susceptibility of Neurological Disorders written by Andleeb Khan and published by Springer Nature. This book was released on with total page 425 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetic Aberrancies and Neurodegenerative Disorders by : M.P. Mattson
Download or read book Genetic Aberrancies and Neurodegenerative Disorders written by M.P. Mattson and published by Elsevier. This book was released on 2000-01-28 with total page 443 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Aberrancies and Neurodegenerative Disorders presents critical reviews and emerging findings concerning the roles of genetic mutations and polymorphisms in the pathogenesis of a range of neurological disorders including Alzheimer's and Parkinson's diseases, trinucleotide repeat disorders, stroke, epilepsy and others. This volume, written by leading experts, brings together fundamental information concerning the roles of inherited traits in the pathogenesis of different neurodegenerative disorders. In addition to providing a catalogue of the known genetic alterations that are linked to specific neurodegenerative disorders, the chapters detail the current state of understanding of the cellular and biochemical mechanisms whereby the genetic aberrancies lead to neuronal dysfunction and degeneration. The emerging picture of each disorder, painted by pathological, biochemical and molecular brushes, suggests that they share key mechanisms including increased levels of oxidative stress, perturbed ion homeostasis, mitochondrial dysfunction and apoptotic proteolytic cascades. The existence of specific molecular defects provides the opportunity to design experiments that can establish the precise pathogenic mechanism of a specific mutation or genetic risk factor. The value of this approach is exemplified by recent studies of how mutations in Cu/Zn-superoxide dismutase cause amyotrophic lateral sclerosis and how presenilin mutations result in early-onset Alzheimer's disease. A theme developed among the different chapters is that events that occur during aging predispose neurons to genetic aberrancies that promote degenerative cascades, and that specific genetic defects exert their influence on particular populations of neurons in a disorder-specific manner. The chapters in this volume will stimulate readers to generate new hypotheses concerning the pathogenic mechanisms of genetic aberrancies that can be experimentally tested.
Book Synopsis Triple Repeat Diseases of the Nervous Systems by : Lubov T. Timchenko
Download or read book Triple Repeat Diseases of the Nervous Systems written by Lubov T. Timchenko and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: World of Unstable Mutations The book "Triplet Repeat Diseases of the Nervous System" overviews the lat est data on several disorders associated with unstable mutations. This field of re search is progressing extremely fast. The number of polymorphic mutations and diseases caused by these mutations is increasing almost every month. There is a strong interest to molecular bases of triplet repeat disorders. This is explained by growing necessity to develop molecular approaches for cure of these diseases. There fore, the authors of this book describe unstable mutations with the emphasis on molecular pathology. Broad discussion is presented on how polymorphic expan sions cause cell dysfunction. o The first chapter of the book focuses on the molecular pathological pro cesses that originate "unstable" mutations. The authors review several avail able models by which normal "stable" region of DNA become pathogenic and discuss possible mechanisms causing DNA instability. o The other chapters of the book describe inherited diseases associated with different types of unstable mutations. Based on the location of mutation in the disease gene, polymorphic expansions of the nervous system can be divided into two major groups. First group includes disorders with unstable expansions within the open reading frame of the gene such as Spinocer ebellar Ataxias caused by polyglutamine expansions. The second group in cludes diseases caused by expansions situated within the untranslated re gions of the gene.
Book Synopsis Glutamine Repeats and Neurodegenerative Diseases by : Peter S. Harper
Download or read book Glutamine Repeats and Neurodegenerative Diseases written by Peter S. Harper and published by Oxford University Press, USA. This book was released on 2001 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on the discovery of a common genetic basis for a group of inherited neurological disorders, including Huntington's Disease, spino-bulbar atrophy and a series of hereditary ataxias. This shared molecular background and other similarities have led to the development of theoretical models for the pathogenesis of these diseases. It is now also clear that the mechanisms involved are likely to be of more general relevance, outside of this particular group of disorders, with implications for other neurodegenerative processes such as those involved in Alzheimer's, Parkinson's and Prion diseases. The book is an edited and updated compilation evolving from a Royal Society discussion meeting.
Book Synopsis Genetics of Neurological and Psychiatric Disorders by : Seymour S. Kety
Download or read book Genetics of Neurological and Psychiatric Disorders written by Seymour S. Kety and published by Raven Press (ID). This book was released on 1983 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis DNA-targeting Molecules as Therapeutic Agents by : Michael J Waring
Download or read book DNA-targeting Molecules as Therapeutic Agents written by Michael J Waring and published by Royal Society of Chemistry. This book was released on 2018-03-08 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: There have been remarkable advances towards discovering agents that exhibit selectivity and sequence-specificity for DNA, as well as understanding the interactions that underlie its propensity to bind molecules. This progress has important applications in many areas of biotechnology and medicine, notably in cancer treatment as well as in future gene targeting therapies. The editor and contributing authors are leaders in their fields and provide useful perspectives from diverse and interdisciplinary backgrounds on the current status of this broad area. The role played by chemistry is a unifying theme. Early chapters cover methodologies to evaluate DNA-interactive agents and then the book provides examples of DNA-interactive molecules and technologies in development as therapeutic agents. DNA-binding metal complexes, peptide and polyamide–DNA interactions, and gene targeting tools are some of the most compelling topics treated in depth. This book will be a valuable resource for postgraduate students and researchers in chemical biology, biochemistry, structural biology and medicinal fields. It will also be of interest to supramolecular chemists and biophysicists.
Book Synopsis Encyclopedic Reference of Cancer by : Manfred Schwab
Download or read book Encyclopedic Reference of Cancer written by Manfred Schwab and published by Springer Science & Business Media. This book was released on 2001-10-15 with total page 1017 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive encyclopedic reference provides rapid and focused information about topics of cancer research for the clinical and basic scientist, students and informed laymen. It will be readily accessible, both electronically and in print, such that it will be of value to both the scientific community and the public.
Book Synopsis Somatic Genome Variation by : Xiu-Qing Li
Download or read book Somatic Genome Variation written by Xiu-Qing Li and published by John Wiley & Sons. This book was released on 2017-06-26 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by an international team of experts, Somatic Genome Variation presents a timely summary of the latest understanding of somatic genome development and variation in plants, animals, and microorganisms. Wide-ranging in coverage, the authors provide an updated view of somatic genomes and genetic theories while also offering interpretations of somatic genome variation. The text provides geneticists, bioinformaticians, biologist, plant scientists, crop scientists, and microbiologists with a valuable overview of this fascinating field of research.
Book Synopsis Lateral Ankle Instability by : Hélder Pereira
Download or read book Lateral Ankle Instability written by Hélder Pereira and published by Springer Nature. This book was released on 2021-04-28 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: This superbly illustrated, up-to-date reference textbook covers all aspects of ankle instability and its management. Readers will find extensive information on biomechanics, injury prevention, current strategies for conservative treatment, and established and emerging surgical techniques. The most recent procedures, particularly those which are minimally invasive and arthroscopically assisted, are described and discussed in depth. Detailed attention is also devoted to controversies such as the indications and timing for conservative or surgical treatment, the current and future roles of arthroscopy, the definition of “anatomic” repair, and the upcoming concept of “anatomic reconstruction” (replication of anatomy by using a graft). The book is published in cooperation with ESSKA, and the chapter authors include clinicians and scientists working in the field of foot and ankle orthopaedics and sports medicine from across the world. All who are involved in the care of patients suffering from ankle instability, including amateur and high-level athletes, will find Lateral Ankle Instability to be an excellent source of knowledge and a valuable aid to clinical practice.
Book Synopsis The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy by : Udo Rüb
Download or read book The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy written by Udo Rüb and published by Springer. This book was released on 2015-09-29 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: This monograph describes the progress in neuropathological HD research made during the last century, the neuropathological hallmarks of HD and their pathogenic relevance. Starting with the initial descriptions of the progressive degeneration of the striatum as one of the key events in HD, the worldwide practiced Vonsattel HD grading system of striatal neurodegeneration will be outlined. Correlating neuropathological data with results on the functional neuroanatomy of the human brain, subsequent chapters will highlight recent HD findings: the neuronal loss in the cerebral neo-and allocortex, the neurodegeneration of select thalamic nuclei, the affection of the cerebellar cortex and nuclei, the involvement of select brainstem nuclei, as well as the pathophysiological relevance of these pathologies for the clinical picture of HD. Finally, the potential pathophysiological role of neuronal huntingtin aggregations and the most important and enduring challenges of neuropathological HD research are discussed.
Book Synopsis Trinucleotide Repeat Protocols by : Yoshinori Kohwi
Download or read book Trinucleotide Repeat Protocols written by Yoshinori Kohwi and published by Springer Science & Business Media. This book was released on 2008-02-03 with total page 341 pages. Available in PDF, EPUB and Kindle. Book excerpt: Trinucleotide repeats are relatively common in the human genome. These simple repeats have received much attention since epoch-making discoveries were made that particular trinucleotide repeats are expanded in the causal genes of human hereditary neurological disorders. For example, the CGG repeat is expanded in fragile X syndrome at the 5' untranslated region (UTR) of its causal gene. In myotonic dystrophy, it is the CTG repeat that is expanded at the 3' UTR of its causal gene. The CAG repeat was also found expanded in coding regions of the genes responsible for X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia, and other disorders. On the other hand, expansion of the GAA repeat was identified in the intron of the gene responsible for the Friedreich’s ataxia. For these trinucleotide repeat diseases, the longer the trinucleotide expansion, the earlier the age of onset and the more severe the syndrome. Thus, these findings that showed the intriguing link between a particular trinucleotide expansion and its associated neurological disorders have led to a new field of intensive study. Active research addressing the underlying mechanisms for trinucleotide repeat diseases has employed various approaches ranging from DNA biochemistry to animal models for the diseases. In particular, animal models for the triplet repeat diseases have provided excellent resources not only for understanding the mechanisms but also for exploring therapeutic interventions.
Book Synopsis Molecular Epidemiology by : Paul A. Schulte
Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.
Book Synopsis Reducing Risks for Mental Disorders by : Institute of Medicine
Download or read book Reducing Risks for Mental Disorders written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 636 pages. Available in PDF, EPUB and Kindle. Book excerpt: The understanding of how to reduce risk factors for mental disorders has expanded remarkably as a result of recent scientific advances. This study, mandated by Congress, reviews those advances in the context of current research and provides a targeted definition of prevention and a conceptual framework that emphasizes risk reduction. Highlighting opportunities for and barriers to interventions, the book draws on successful models for the prevention of cardiovascular disease, injuries, and smoking. In addition, it reviews the risk factors associated with Alzheimer's disease, schizophrenia, alcohol abuse and dependence, depressive disorders, and conduct disorders and evaluates current illustrative prevention programs. The models and examination provide a framework for the design, application, and evaluation of interventions intended to prevent mental disorders and the transfer of knowledge about prevention from research to clinical practice. The book presents a focused research agenda, with recommendations on how to develop effective intervention programs, create a cadre of prevention researchers, and improve coordination among federal agencies.
Book Synopsis Molecular Diagnostics by : William B. Coleman
Download or read book Molecular Diagnostics written by William B. Coleman and published by Springer Science & Business Media. This book was released on 2007-10-28 with total page 593 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accompanying CD-ROM contains ... "a companion eBook version of Molecular diagnostics : for the clinical laboratorian, Second edition ... for downloading and use in the reader's PC or PDA."--Page 4 of cover.
Book Synopsis RNA-Based Regulation in Human Health and Disease by :
Download or read book RNA-Based Regulation in Human Health and Disease written by and published by Academic Press. This book was released on 2020-08-19 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: RNA-based Regulation in Human Health and Disease offers an in-depth exploration of RNA mediated genome regulation at different hierarchies. Beginning with multitude of canonical and non-canonical RNA populations, especially noncoding RNA in human physiology and evolution, further sections examine the various classes of RNAs (from small to large noncoding and extracellular RNAs), functional categories of RNA regulation (RNA-binding proteins, alternative splicing, RNA editing, antisense transcripts and RNA G-quadruplexes), dynamic aspects of RNA regulation modulating physiological homeostasis (aging), role of RNA beyond humans, tools and technologies for RNA research (wet lab and computational) and future prospects for RNA-based diagnostics and therapeutics. One of the core strengths of the book includes spectrum of disease-specific chapters from experts in the field highlighting RNA-based regulation in metabolic & neurodegenerative disorders, cancer, inflammatory disease, viral and bacterial infections. We hope the book helps researchers, students and clinicians appreciate the role of RNA-based regulation in genome regulation, aiding the development of useful biomarkers for prognosis, diagnosis, and novel RNA-based therapeutics. Comprehensive information of non-canonical RNA-based genome regulation modulating human health and disease Defines RNA classes with special emphasis on unexplored world of noncoding RNA at different hierarchies Disease specific role of RNA - causal, prognostic, diagnostic and therapeutic Features contributions from leading experts in the field
