Genetic Instabilities And Neurological Diseases
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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
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.
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 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.
Molecular Mechanisms For Repair Of Genetic Instabilities
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Author : Ishita S. Mehta
language : en
Publisher: CRC Press
Release Date : 2015-10-31
Molecular Mechanisms For Repair Of Genetic Instabilities written by Ishita S. Mehta and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-10-31 with Science categories.
This book is designed not only for the expert audience in DNA repair/recombination, but also for those curious about chromosomal dynamics and regulation in the context of cellular functions. It covers chromosomal damage and instabilities and chromosomal repair in relation to cell signaling, metabolism, developmental biology; chromosomal disorders, and diseases
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
Genome Stability
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Author : Igor Kovalchuk
language : en
Publisher: Academic Press
Release Date : 2021-07-17
Genome Stability written by Igor Kovalchuk and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-07-17 with Science categories.
Genome Stability: From Virus to Human Application, Second Edition, a volume in the Translational Epigenetics series, explores how various species maintain genome stability and genome diversification in response to environmental factors. Here, across thirty-eight chapters, leading researchers provide a deep analysis of genome stability in DNA/RNA viruses, prokaryotes, single cell eukaryotes, lower multicellular eukaryotes, and mammals, examining how epigenetic factors contribute to genome stability and how these species pass memories of encounters to progeny. Topics also include major DNA repair mechanisms, the role of chromatin in genome stability, human diseases associated with genome instability, and genome stability in response to aging. This second edition has been fully revised to address evolving research trends, including CRISPRs/Cas9 genome editing; conventional versus transgenic genome instability; breeding and genetic diseases associated with abnormal DNA repair; RNA and extrachromosomal DNA; cloning, stem cells, and embryo development; programmed genome instability; and conserved and divergent features of repair. This volume is an essential resource for geneticists, epigeneticists, and molecular biologists who are looking to gain a deeper understanding of this rapidly expanding field, and can also be of great use to advanced students who are looking to gain additional expertise in genome stability. A deep analysis of genome stability research from various kingdoms, including epigenetics and transgenerational effects Provides comprehensive coverage of mechanisms utilized by different organisms to maintain genomic stability Contains applications of genome instability research and outcomes for human disease Features all-new chapters on evolving areas of genome stability research, including CRISPRs/Cas9 genome editing, RNA and extrachromosomal DNA, programmed genome instability, and conserved and divergent features of repair
Neuromuscular Diseases
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Author : Feza Deymeer
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2000-01-01
Neuromuscular Diseases written by Feza Deymeer and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000-01-01 with Medical categories.
This book reviews the electrophysiological, genetic and immunological bases of some of the major neuromuscular diseases and evaluates their importance pertaining to the clinical management of the patients. Included are up-to-date topics such as gene therapy, myoblast transfer and new drug trials. Written by experts in their own fields, this volume will not only be of great value to neurologists and neuroscientists, but also to geneticists, immunologists and physiologists.
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.
Encyclopedic Reference Of Cancer
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Author : Manfred Schwab
language : en
Publisher: Springer Science & Business Media
Release Date : 2001-10-15
Encyclopedic Reference Of Cancer written by Manfred Schwab 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 2001-10-15 with Medical categories.
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.