Genetic Instabilities and Neurological Diseases

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Author :
Publisher : Elsevier
ISBN 13 : 0080463770
Total Pages : 783 pages
Book Rating : 4.0/5 (84 download)

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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

DNA-targeting Molecules as Therapeutic Agents

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Publisher : Royal Society of Chemistry
ISBN 13 : 1788014286
Total Pages : 432 pages
Book Rating : 4.7/5 (88 download)

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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.

Somatic Genome Variation

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Publisher : John Wiley & Sons
ISBN 13 : 1118647068
Total Pages : 452 pages
Book Rating : 4.1/5 (186 download)

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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.

Genetic Instabilities and Hereditary Neurological Diseases

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Publisher :
ISBN 13 :
Total Pages : 886 pages
Book Rating : 4.3/5 (91 download)

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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.

Encyclopedic Reference of Cancer

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Publisher : Springer Science & Business Media
ISBN 13 : 3540665277
Total Pages : 1017 pages
Book Rating : 4.5/5 (46 download)

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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.

Lateral Ankle Instability

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Publisher : Springer Nature
ISBN 13 : 3662627639
Total Pages : 392 pages
Book Rating : 4.6/5 (626 download)

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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.

Structural Biology and Functional Genomics

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Publisher : Springer Science & Business Media
ISBN 13 : 9780792357810
Total Pages : 332 pages
Book Rating : 4.3/5 (578 download)

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Book Synopsis Structural Biology and Functional Genomics by : E. Morton Bradbury

Download or read book Structural Biology and Functional Genomics written by E. Morton Bradbury and published by Springer Science & Business Media. This book was released on 1999-08-31 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomedical research will be revolutionised by the current efforts to sequence the human genome and the genomes of model organisms. Of the newly sequenced genes, 50% code for proteins of unknown functions, while as little as 5% of sequences in mammalian genomes code for proteins. New, genome-wide approaches are needed to draw together the knowledge that is emerging simultaneously in a number of fields of genome research. This volume is a high-level survey of the newly emerging concepts of structural biology and functional genomics for biologists, biochemists and medical researchers interested in genome research. Topics included are chromosome and chromatin organisation, novel DNA and RNA structures, DNA flexibility, supercoiling, prediction of protein functions, strategies for large scale structural analysis, and computer modelling.

Cancer as a Metabolic Disease

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Publisher : John Wiley & Sons
ISBN 13 : 1118310306
Total Pages : 482 pages
Book Rating : 4.1/5 (183 download)

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Book Synopsis Cancer as a Metabolic Disease by : Thomas Seyfried

Download or read book Cancer as a Metabolic Disease written by Thomas Seyfried and published by John Wiley & Sons. This book was released on 2012-05-18 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book addresses controversies related to the origins of cancer and provides solutions to cancer management and prevention. It expands upon Otto Warburg's well-known theory that all cancer is a disease of energy metabolism. However, Warburg did not link his theory to the "hallmarks of cancer" and thus his theory was discredited. This book aims to provide evidence, through case studies, that cancer is primarily a metabolic disease requring metabolic solutions for its management and prevention. Support for this position is derived from critical assessment of current cancer theories. Brain cancer case studies are presented as a proof of principle for metabolic solutions to disease management, but similarities are drawn to other types of cancer, including breast and colon, due to the same cellular mutations that they demonstrate.

Trinucleotide Repeat Protocols

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Publisher : Springer Science & Business Media
ISBN 13 : 1592598048
Total Pages : 341 pages
Book Rating : 4.5/5 (925 download)

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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.

The Neuropathology of Huntington’s Disease: Classical Findings, Recent Developments and Correlation to Functional Neuroanatomy

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Author :
Publisher : Springer
ISBN 13 : 331919285X
Total Pages : 154 pages
Book Rating : 4.3/5 (191 download)

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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.

Molecular Diagnostics

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Publisher : Springer Science & Business Media
ISBN 13 : 1592599281
Total Pages : 593 pages
Book Rating : 4.5/5 (925 download)

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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.

Molecular Epidemiology

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Publisher : Academic Press
ISBN 13 : 0323138578
Total Pages : 609 pages
Book Rating : 4.3/5 (231 download)

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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.

Reducing Risks for Mental Disorders

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Publisher : National Academies Press
ISBN 13 : 0309049393
Total Pages : 636 pages
Book Rating : 4.3/5 (9 download)

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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.

RNA-Based Regulation in Human Health and Disease

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Author :
Publisher : Academic Press
ISBN 13 : 0128171944
Total Pages : 446 pages
Book Rating : 4.1/5 (281 download)

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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 446 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

Braun-Falco ́s Dermatology

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Publisher : Springer
ISBN 13 : 9783540293163
Total Pages : 0 pages
Book Rating : 4.2/5 (931 download)

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Book Synopsis Braun-Falco ́s Dermatology by : Walter H.C. Burgdorf

Download or read book Braun-Falco ́s Dermatology written by Walter H.C. Burgdorf and published by Springer. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Also the 3rd edition of "Dermatology" covers all the classical and related fields of dermatology, providing a wealth of information on diagnostic methods, clinical features, pathophysiology, and differential diagnosis. About 950 excellent photos and diagrams help the reader become acquainted with the immense variety of dermatological diseases. The contents of all chapters have been updated. New chapters have been included covering numerous subjects, e.g. dermatopathology, sonography, disorders of chromosomal instability and defective DNA repair, aging skin, sport dermatology, aesthetic therapy. The book is a must for every doctor confronted with dermatological problems.

Neurobiology of Bipolar Disorder

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Publisher : Academic Press
ISBN 13 : 012819183X
Total Pages : 472 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Neurobiology of Bipolar Disorder by : Joao L. de Quevedo

Download or read book Neurobiology of Bipolar Disorder written by Joao L. de Quevedo and published by Academic Press. This book was released on 2020-11-25 with total page 472 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Neurobiology of Bipolar Disorder: Road to Novel Therapeutics combines the basic neurobiology of bipolar disorder with discussions of the most recent advances in research, including the interacting pathways implicated in the pathophysiology of bipolar disorder, genetic approaches and the pharmacogenomics of bipolar disorder. The basic foundational understanding of the neurobiology underlying the disorder, along with a comprehensive summary of the most recent advances in research combine to aid advanced students and researchers in their understanding of bipolar disorder management using novel and fast-acting pharmaceutical and neuromodulatory approaches. - Aids readers in understanding bipolar disorder in the context of NIMH Research Domain Criteria (RDoC) recommendations - Covers a range of existing and potential pharmacologic and non-pharmacologic treatment options, from lifestyle adjustments to novel therapeutics - Synthesizes a discussion of the cellular and molecular mechanisms underlying symptoms with clinical aspects of bipolar disorder

Triple Repeat Diseases of the Nervous Systems

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Publisher : Springer Science & Business Media
ISBN 13 : 1461501172
Total Pages : 128 pages
Book Rating : 4.4/5 (615 download)

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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.