Genetic Instabilities And Neurological Diseases
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| Author | : Robert D. Wells |
| Publisher | : Elsevier |
| Total Pages | : 783 |
| Release | : 2011-10-13 |
| Genre | : Science |
| ISBN | : 0080463770 |
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
| Author | : Michael J Waring |
| Publisher | : Royal Society of Chemistry |
| Total Pages | : 432 |
| Release | : 2018-03-08 |
| Genre | : Science |
| ISBN | : 1788014286 |
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.
| Author | : Robert D. Wells |
| Publisher | : |
| Total Pages | : 886 |
| Release | : 1998 |
| Genre | : Medical |
| ISBN | : |
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.
| Author | : Udo Rüb |
| Publisher | : Springer |
| Total Pages | : 154 |
| Release | : 2015-09-29 |
| Genre | : Medical |
| ISBN | : 331919285X |
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.
| Author | : Manfred Schwab |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 1017 |
| Release | : 2001-10-15 |
| Genre | : Medical |
| ISBN | : 3540665277 |
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.
| Author | : Hélder Pereira |
| Publisher | : Springer Nature |
| Total Pages | : 392 |
| Release | : 2021-04-28 |
| Genre | : Medical |
| ISBN | : 3662627639 |
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.
| Author | : |
| Publisher | : Academic Press |
| Total Pages | : 446 |
| Release | : 2020-08-19 |
| Genre | : Medical |
| ISBN | : 0128171944 |
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
| Author | : Yoshinori Kohwi |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 341 |
| Release | : 2008-02-03 |
| Genre | : Science |
| ISBN | : 1592598048 |
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.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 636 |
| Release | : 1994-01-01 |
| Genre | : Medical |
| ISBN | : 0309049393 |
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.
| Author | : William B. Coleman |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 593 |
| Release | : 2007-10-28 |
| Genre | : Medical |
| ISBN | : 1592599281 |
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.
