Genetic Instabilities And Neurological Diseases

Author : Robert D. Wells
Publisher : Elsevier
ISBN 13 : 0080463770
Total Pages : 783 pages
Book Rating : 4.73/5 ( download)

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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

Author : Robert D. Wells
Publisher :
ISBN 13 :
Total Pages : 886 pages
Book Rating : 4.91/5 ( download)

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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.

Author : Ben A. Oostra
Publisher : Springer Science & Business Media
ISBN 13 : 3540696806
Total Pages : 248 pages
Book Rating : 4.03/5 ( download)

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Download or read book Trinucleotide Diseases and Instability written by Ben A. Oostra and published by Springer Science & Business Media. This book was released on 2013-06-05 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Andleeb Khan
Publisher : Springer Nature
ISBN 13 : 9819994047
Total Pages : 425 pages
Book Rating : 4.45/5 ( download)

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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:

Author : Lubov T. Timchenko
Publisher : Springer Science & Business Media
ISBN 13 : 1461501172
Total Pages : 128 pages
Book Rating : 4.76/5 ( download)

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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.

Author : Michael J Waring
Publisher : Royal Society of Chemistry
ISBN 13 : 1788014286
Total Pages : 432 pages
Book Rating : 4.81/5 ( download)

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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.

Author : Peter S. Harper
Publisher : Oxford University Press, USA
ISBN 13 :
Total Pages : 352 pages
Book Rating : 4.05/5 ( download)

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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.

Author : Manfred Schwab
Publisher : Springer Science & Business Media
ISBN 13 : 3540665277
Total Pages : 1017 pages
Book Rating : 4.74/5 ( download)

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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.

Author : Xiu-Qing Li
Publisher : John Wiley & Sons
ISBN 13 : 1118647068
Total Pages : 452 pages
Book Rating : 4.66/5 ( download)

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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.

Author : Yoshinori Kohwi
Publisher : Springer Science & Business Media
ISBN 13 : 1592598048
Total Pages : 341 pages
Book Rating : 4.45/5 ( download)

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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.