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Triple Repeat Diseases of the Nervous Systems

Triple Repeat Diseases of the Nervous Systems PDF Author: Lubov T. Timchenko
Publisher: Springer Science & Business Media
ISBN: 9780306474170
Category : Medical
Languages : en
Pages : 136

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Book Description
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.

Triple Repeat Diseases of the Nervous Systems

Triple Repeat Diseases of the Nervous Systems PDF Author: Lubov T. Timchenko
Publisher: Springer Science & Business Media
ISBN: 9780306474170
Category : Medical
Languages : en
Pages : 136

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Book Description
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.

Triple Repeat Diseases of the Nervous Systems

Triple Repeat Diseases of the Nervous Systems PDF Author: Lubov T. Timchenko
Publisher: Springer Science & Business Media
ISBN: 1461501172
Category : Medical
Languages : en
Pages : 121

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Book Description
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

Trinucleotide Repeat Protocols PDF Author: Yoshinori Kohwi
Publisher: Springer Science & Business Media
ISBN: 1592598048
Category : Science
Languages : en
Pages : 342

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Book Description
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.

Advances in Male Mediated Developmental Toxicity

Advances in Male Mediated Developmental Toxicity PDF Author: Bernard Robaire
Publisher: Springer Science & Business Media
ISBN: 1441991905
Category : Science
Languages : en
Pages : 300

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Book Description
This volume highlights major contributions that identify new developments and directions in the field over the past decade, as well as challenges for the foreseeable future. An integration of information from laboratory and epidemiological studies, male reproduction and teratology can be found throughout the volume. The range of topics include parental legacies and genomics, lifestyle, occupational and therapeutic paternal exposures and effects; effects on the gamete-packaging of human sperm; role of DNA repair and germ cell apoptosis; stem cells, epigenetics and closing; model systems and implications to clinicians and general counselors.

Diseases of the Nervous System

Diseases of the Nervous System PDF Author: Harald Sontheimer
Publisher: Elsevier
ISBN: 0128213965
Category : Medical
Languages : en
Pages : 500

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Book Description
The study of the brain continues to expand at a rapid pace providing fascinating insights into the basic mechanisms underlying nervous system illnesses. New tools, ranging from genome sequencing to non-invasive imaging, and research fueled by public and private investment in biomedical research has been transformative in our understanding of nervous system diseases and has led to an explosion of published primary research articles. Diseases of the Nervous System, Second Edition, summarizes the current state of basic and clinical knowledge for the most common neurological and neuropsychiatric conditions. In a systematic progression, each chapter covers either a single disease or a group of related disorders ranging from static insults to primary and secondary progressive neurodegenerative diseases, neurodevelopmental illnesses, illnesses resulting from nervous system infection and neuropsychiatric conditions. Chapters follow a common format and are stand-alone units, each covering disease history, clinical presentation, disease mechanisms and treatment protocols. Dr. Sontheimer also includes two chapters which discuss common concepts shared among the disorders and how new findings are being translated from the bench to the bedside. In a final chapter, he explains the most commonly used neuroscience jargon. The chapters address controversial issues in current day neuroscience research including translational research, drug discovery, ethical issues, and the promises of personalized medicine. This new edition features new chapters on Pain and Addiction to highlight the growing opioid crisis and the ethical issue of prescriptions drug abuse. This book provides an introduction for course adoption and an introductory tutorial for students, scholars, researchers and medical professionals interested in learning the state of the art concerning our understanding and treatment of diseases of the nervous system. Each chapter includes suggested further readings and/or journal club recommendations. 2016 PROSE Award winner of the Best Textbook Award in Biological and Life Sciences Provides a focused tutorial introduction to the core diseases of the nervous system Includes comprehensive introductions to Stroke, Epilepsy, Alzheimer's Disease, Parkinson's Disease, Huntington's Disease, ALS, Head and Spinal Cord Trauma, Multiple Sclerosis, Brain Tumors, Depression, Schizophrenia and many other diseases of the nervous system Covers more than 40 diseases from the foundational science to the best treatment protocols Includes discussions of translational research, drug discovery, personalized medicine, ethics, and neuroscience New Edition features two new chapters on Pain and Addiction

OCT and Imaging in Central Nervous System Diseases

OCT and Imaging in Central Nervous System Diseases PDF Author: Andrzej Grzybowski
Publisher: Springer Nature
ISBN: 3030262693
Category : Medical
Languages : en
Pages : 561

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Book Description
The second edition of OCT and Imaging in Central Nervous System Diseases offers updated state-of-the-art advances using optical coherence tomography (OCT) regrading neuronal loss within the retina. Detailed information on the OCT imaging and interpretation is provided for the evaluation of disease progression in numerous neurodegenerative disorders and as a biological marker of neuroaxonal injury. Covering disorders like multiple sclerosis, Parkinson’s disease, Alzheimer’s disease, intracranial hypertension, Friedreich’s ataxia, schizophrenia, hereditary optic neuropathies, glaucoma, and amblyopia, readers will given insights into effects on the retina and the and optic nerve. Individual chapters are also devoted to OCT technique, new OCT technology in neuro-ophthalmology, OCT and pharmacological treatment, and the use of OCT in animal models. Similar to the first edition, this book is an excellent and richly illustrated reference for diagnosis of many retinal diseases and monitoring of surgical and medical treatment. OCT allows to study vision from of the retina to the optic tracts. Retinal axons in the retinal nerve fiber layer (RNFL) are non-myelinated until they penetrate the lamina cribrosa. Hence, the RNFL is an ideal structure for visualization of any process of neurodegeneration, neuroprotection, or regeneration. By documenting the ability of OCT to provide key information on CNS diseases, this book illustrates convincingly that the eye is indeed the “window to the brain”.

Genetic Instabilities and Neurological Diseases

Genetic Instabilities and Neurological Diseases PDF Author: Robert D. Wells
Publisher: Elsevier
ISBN: 0080463770
Category : Medical
Languages : en
Pages : 784

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Book Description
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

Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 1998

Departments of Labor, Health and Human Services, Education, and Related Agencies Appropriations for 1998 PDF Author: United States. Congress. House. Committee on Appropriations. Subcommittee on the Departments of Labor, Health and Human Services, Education, and Related Agencies
Publisher:
ISBN:
Category : United States
Languages : en
Pages : 9

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Book Description


Textbook of Medical Biochemistry, 4th Updated Edition

Textbook of Medical Biochemistry, 4th Updated Edition PDF Author: Dinesh Puri
Publisher: Elsevier Health Sciences
ISBN: 8131262529
Category : Medical
Languages : en
Pages : 700

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Book Description
This book provides a concise and structured approach to learning by the subject in an easy to comprehend and systematic format. The content for the book is presented as per the guidelines of Medical Council of India and health universities across the country. It is designed specifically to meet the needs of 1st year students pursuing BDS. It is also useful for nursing, pharmacy and other allied health students. Salient Features Each topic begins with outline of the essential facts Text is followed by more detailed exposition, with special emphasis on clear and simple figures and flowcharts Presentation of self-explanatory and easy to learn diagrams Special Features Complimentary access to enhanced e-book with digital assets: University exam-patterned MCQs Lecture videos Procedural videos Core competencies prescribed by the MCI are covered and competency codes are included in the text

Cumulated Index Medicus

Cumulated Index Medicus PDF Author:
Publisher:
ISBN:
Category : Medicine
Languages : en
Pages : 1798

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Book Description