Triple Repeat Diseases Of The Nervous Systems
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Triple Repeat Diseases Of The Nervous Systems
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Author : Lubov T. Timchenko
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Triple Repeat Diseases Of The Nervous Systems written by Lubov T. Timchenko and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
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.
Trinucleotide Repeat Protocols
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Author : Yoshinori Kohwi
language : en
Publisher: Springer Science & Business Media
Release Date : 2008-02-03
Trinucleotide Repeat Protocols written by Yoshinori Kohwi and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-02-03 with Science categories.
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.
Trinucleotide Diseases And Instability
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Author : Ben A. Oostra
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-06-05
Trinucleotide Diseases And Instability written by Ben A. Oostra and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-06-05 with Science categories.
Till recently, mutations in genes were described in textbooks as deletions or point mutations. These mutations can be inherited from a parent or they are de novo alterations. The discovery in 1991 that human disease can be caused by large-scale ex pansion of highly unstable trinucleotide repeats has elucidated a new mutation mechanism, heritable unstable DNA. In the subsequent years more then 10 such disease genes have been identified. All dynamic mutations have been iden tified in neurological disorders. There are ten possible trinucleotide repeats at the DNA level, but only 3 have been identified as being involved in human dis eases. The rather frequent occurence of triplet repeats in the human genome indicates that other loci subject to unstable expansions may be discovered. The identification of repeat instability and the identification of disease genes containing trinucleotide repeats has helped to answer intriguing questions. The diseases share the unusual characteristic of inheritance with increased disease severity in successive gernerations, a phenomenon called anticipation. Trinu cleotide repeat diseases are ideal subjects for direct testing because the muta tion is almost exclusively of the same type and there is an extremely low occur ance of new mutations in these diseases. The anticipation can now be explained by the correlation of increasing repeat length with increased disease serverity. It can be speculated that other neurological disorders showing anticipation will be caused by unstable repeats as well.
Triple Repeat Diseases Of The Nervous System
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Author : Lubov T. Timchenko
language : en
Publisher:
Release Date :
Triple Repeat Diseases Of The Nervous System written by Lubov T. Timchenko and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on with categories.
This book summarizes the current knowledge on the molecular bases for human inherited diseases associated with unstable mutations. Five chapters describe molecular mechanisms that destabilize normal regions of DNA and explain how repetitive elements cause such diseases. The book provides a balanced, objective account on all aspects and types of unstable mutations. The reader will find a solid background on how these mutations initiate unusual molecular pathways through DNA, RNA, and proteins. The book is designed to serve as a quick and comprehensive reference work for a broad audience including professors, researchers, students, and anyone with an interest in molecular medicine.
Genetic Instabilities And Neurological Diseases
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Author : Robert D. Wells
language : en
Publisher: Elsevier
Release Date : 2011-10-13
Genetic Instabilities And Neurological Diseases written by Robert D. Wells and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-10-13 with Medical categories.
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
Human Nucleotide Expansion Disorders
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Author : Michael Fry
language : en
Publisher: Springer Science & Business Media
Release Date : 2007-02-15
Human Nucleotide Expansion Disorders written by Michael Fry and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-02-15 with Science categories.
Human neurological and neuromuscular disorders caused by nucleotide expansion are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studied disorders. The authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms.
Genetic Instabilities And Hereditary Neurological Diseases
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Author : Robert D. Wells
language : en
Publisher:
Release Date : 1998
Genetic Instabilities And Hereditary Neurological Diseases written by Robert D. Wells and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998 with Chromosome abnormalities categories.
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.
The Neuropathology Of Huntington S Disease Classical Findings Recent Developments And Correlation To Functional Neuroanatomy
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Author : Udo Rüb
language : en
Publisher: Springer
Release Date : 2015-09-29
The Neuropathology Of Huntington S Disease Classical Findings Recent Developments And Correlation To Functional Neuroanatomy written by Udo Rüb and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-29 with Medical categories.
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.
Neuropathology Of Neurodegenerative Diseases Book And Online
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Author : Gabor G. Kovacs
language : en
Publisher: Cambridge University Press
Release Date : 2014-12-04
Neuropathology Of Neurodegenerative Diseases Book And Online written by Gabor G. Kovacs and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-12-04 with Medical categories.
This heavily illustrated, must-have practical guide aids medical specialists and trainees in the diagnosis of neurodegenerative diseases. Includes diagnostic algorithms.
Glutamine Repeats And Neurodegenerative Diseases
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Author : Peter S. Harper
language : en
Publisher: Oxford University Press, USA
Release Date : 2001
Glutamine Repeats And Neurodegenerative Diseases written by Peter S. Harper and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Glutamine categories.
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