Nonsense Mutation Correction in Human Diseases Book

Nonsense Mutation Correction in Human Diseases

  • Author : Fabrice Lejeune
  • Publisher : Academic Press
  • Release Date : 2016-02-26
  • Genre: Science
  • Pages : 190
  • ISBN 10 : 9780128044698
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Nonsense Mutation Correction in Human Diseases: An Approach for Targeted Medicine provides an introduction on genetic diseases, discusses the prevalence of nonsense mutations, the consequences of a nonsense mutation for the expression of the mutant gene, and the presentation of the nonsense-mediated mRNA decay (NMD). It presents the mechanism of action and rationale associated with each strategy to correct nonsense mutations with the results of clinical trials to further support this basis. In addition, the book shows how it may be possible to combine several of these strategies to ultimately improve the efficiency of correction, also suggesting the future goals and objectives to improve treatment modalities in this evolving sphere of personalized medicine. Features basic biological and clinical constructs that inform the application of genomic data to clinical decision-making Includes theories and methods that can be used to link bio-molecular and clinical phenotypes so as to enable integrative hypothesis discovery, testing, and downstream evidence-based practice Provides design patterns and use cases that contextualize the clinical decision-making and evidence-based practice relative to real world requirements and stakeholders

Cystic Fibrosis in the Light of New Research Book

Cystic Fibrosis in the Light of New Research

  • Author : Dennis Wat
  • Publisher : BoD – Books on Demand
  • Release Date : 2015-08-24
  • Genre: Medical
  • Pages : 394
  • ISBN 10 : 9789535121527
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Cystic Fibrosis in the Light of New Research provides the latest research and clinical evidence that will be useful for clinicians, scientists and researchers to further their knowledge around this fascinating condition. The authors have brought along their expertise and wealth of knowledge to produce this book, including the basic science that underlies the disease, the burden of bacterial and viral infections, immunologic aspects of CF, a variety of clinical measurements to predict prognosis and novel therapies including gene therapy. This book will be invaluable and entertaining for anyone who is involved in the care of patients with cystic fibrosis.

Neurogenetics Book

Neurogenetics

  • Author : Anonim
  • Publisher : Elsevier
  • Release Date : 2018-01-09
  • Genre: Medical
  • Pages : 480
  • ISBN 10 : 9780444640772
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Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Human Gene Mutation Book

Human Gene Mutation

  • Author : David N. Cooper
  • Publisher : Taylor & Francis
  • Release Date : 1995
  • Genre: Science
  • Pages : 412
  • ISBN 10 : 1859960553
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Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

Molecular Therapies for Inherited Retinal Diseases Book

Molecular Therapies for Inherited Retinal Diseases

  • Author : Rob W J Collin
  • Publisher : Unknown
  • Release Date : 2020-10-07
  • Genre: Uncategoriezed
  • Pages : 262
  • ISBN 10 : 3039431765
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Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. 'Classical' gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene-or even every mutation-may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside.

Disorders of Voluntary Muscle Book
Score: 3
From 2 Ratings

Disorders of Voluntary Muscle

  • Author : George Karpati
  • Publisher : Cambridge University Press
  • Release Date : 2001-07-12
  • Genre: Medical
  • Pages : 800
  • ISBN 10 : 0521650623
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Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Molecular Epidemiology Book

Molecular Epidemiology

  • Author : Paul A. Schulte
  • Publisher : Academic Press
  • Release Date : 2012-12-02
  • Genre: Science
  • Pages : 588
  • ISBN 10 : 9780323138574
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This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.

The Genetics of Obesity Book

The Genetics of Obesity

  • Author : Claude Bouchard
  • Publisher : CRC Press
  • Release Date : 2020-08-12
  • Genre: Medical
  • Pages : 256
  • ISBN 10 : 9781000141603
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This book provides a comprehensive compilation of the evidence available regarding the role of genetic differences in the etiology of human obesities and their health and metabolic implications. It also identifies the most promising research areas, methods, and strategies for use in future efforts to understand the genetic basis of obesities and their consequences on human health. Leading researchers in their respective fields present contributed chapters on such topics as etiology and the prevalence of obesities, nongenetic determinants of obesity and fat topography, and animal models and molecular biological technology used to delineate the genetic basis of human obesities. A major portion of the book is devoted to human genetic research and clinical observations encompassing adoption studies, twin studies, family studies, single gene effects, temporal trends and etiology heterogeneity, energy intake and food preference, energy expenditure, and susceptibility to metabolic derangements in the obese state. Future directions of research in the field are covered in the book as well.

RNA Turnover in Eukaryotes Analysis of Specialized and Quality Control RNA Decay Pathways Book
Score: 1
From 1 Ratings

RNA Turnover in Eukaryotes Analysis of Specialized and Quality Control RNA Decay Pathways

  • Author : Lynne E. Maquat
  • Publisher : Academic Press
  • Release Date : 2011-09-02
  • Genre: Science
  • Pages : 464
  • ISBN 10 : 0080923321
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Specific complexes of protein and RNA carry out many essential biological functions, including RNA processing, RNA turnover, and RNA folding, as well as the translation of genetic information from mRNA into protein sequences. Messenger RNA (mRNA) decay is now emerging as an important control point and a major contributor to gene expression. Continuing identification of the protein factors and cofactors and mRNA instability elements responsible for mRNA decay allow researchers to build a comprehensive picture of the highly orchestrated processes involved in mRNA decay and its regulation. * Covers the nonsense-mediated mRNA decay (NMD) or mRNA surveillance pathway * Expert researchers introduce the most advanced technologies and techniques * Offers step-by-step lab instructions, including necessary equipment and reagents

Epidemiology of Brain and Spinal Tumors Book

Epidemiology of Brain and Spinal Tumors

  • Author : Jahangir Moini
  • Publisher : Academic Press
  • Release Date : 2021-04-16
  • Genre: Medical
  • Pages : 552
  • ISBN 10 : 9780128217559
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Epidemiology of Brain and Spinal Tumors provides a single volume resource on imaging methods and neuroepidemiology of both brain and spinal tumors. The book covers a variety of imaging techniques, including computed tomography (CT), MRI, positron emission tomography (PET), and other laboratory tests used in diagnosis and treatment. Detailed epidemiology, various imaging methods, and clinical considerations of tumors of the CNS make this an ideal reference for users who will also find diverse information about structures and functions, cytology, epidemiology (including molecular epidemiology), diagnosis and treatment. This book is appropriate for neuroscience researchers, medical professionals and anyone interested in a complete guide to visualizing and understanding CNS tumors. Provides the most up-to-date information surrounding the epidemiology, biology and imaging techniques for brain and spinal tumors, including CT, MRI, PET, and others Includes full color figures, photos, tables, graphs and radioimaging Contains information that will be valuable to anyone interested in the field of neurooncology and the treatment of patients with brain and spinal tumors Serves as a source of background information for basic scientists and pharmaceutical researchers who have an interest in imaging and treatment

Vogel and Motulsky s Human Genetics Book

Vogel and Motulsky s Human Genetics

  • Author : Michael Speicher
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-11-26
  • Genre: Medical
  • Pages : 981
  • ISBN 10 : 9783540376545
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The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.

Programmed Alternative Reading of the Genetic Code Book

Programmed Alternative Reading of the Genetic Code

  • Author : Philip J. Farabaugh
  • Publisher : Springer
  • Release Date : 1997-03-15
  • Genre: Medical
  • Pages : 226
  • ISBN 10 : STANFORD:36105019289565
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2. The Translational Machinery . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5 Translation Initiation in Prokaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 Translation Initiation in Eukaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8 14 Translation Elongation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Translation Termination in Prokaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 Translation Termination in Eukaryotes . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 Error Correction in Translation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 A Structural Basis of Error Correction in Translation . . . . . . . . . . . . . . . . . . . . . . . . . . 20 Ribosome Editing: A Failsafe Error Correction Mechanism . . . . . . . . . . . . . . . . 22 Conclusions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22 3. Errors During Elongation Can Cause Translational 29 Frameshifting . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . Spontaneous Frameshifting Versus Programmed Frameshifting . . . . . . . . . . 30 Spontaneous Frameshifts Can Be Induced at Specific Codons . . . . . . . . . . . . 31 4. Programmed +1 Frameshifting . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 The pifE Gene of E. coli . . . . . . . . . . . . . . . . . . . . . . . .

Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease Book

Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease

  • Author : Venkataramana K Sidhaye
  • Publisher : Academic Press
  • Release Date : 2017-03-09
  • Genre: Medical
  • Pages : 276
  • ISBN 10 : 9780128038819
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Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease provides a one-stop resource capturing developments in lung epithelial biology related to basic physiology, pathophysiology, and links to human disease. The book provides access to knowledge of molecular and cellular aspects of lung homeostasis and repair, including the molecular basis of lung epithelial intercellular communication and lung epithelial channels and transporters. Also included is coverage of lung epithelial biology as it relates to fluid balance, basic ion/fluid molecular processes, and human disease. Useful to physician and clinical scientists, the contents of this book compile the important and most current findings about the role of epithelial cells in lung disease. Medical and graduate students, postdoctoral and clinical fellows, as well as clinicians interested in the mechanistic basis for lung disease will benefit from the books examination of principles of lung epithelium functions in physiological condition. Provides a single source of information on lung epithelial junctions and transporters Discusses of the role of the epithelium in lung homeostasis and disease Includes capsule summaries of main conclusions as well as highlights of future directions in the field Covers the mechanistic basis for lung disease for a range of audiences

Human Adult Stem Cells Book

Human Adult Stem Cells

  • Author : John Masters
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-05-30
  • Genre: Medical
  • Pages : 208
  • ISBN 10 : 9789048122691
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The aim of volume 7 of Human Cell Culture is to provide clear and precise methods for growing primary cultures of adult stem cells from various human tissues and describe culture conditions in which these adult stem cells differentiate along their respective lineages. The book will be of value to biomedical scientists and of special interest to stem cell biologists and tissue engineers. Each chapter is written by experts actively involved in growing human adult stem cells.

Health Effects of Exposure to Low Levels of Ionizing Radiation Book

Health Effects of Exposure to Low Levels of Ionizing Radiation

  • Author : National Research Council
  • Publisher : National Academies
  • Release Date : 1990-02-01
  • Genre: Science
  • Pages : 436
  • ISBN 10 : 9780309039956
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This book reevaluates the health risks of ionizing radiation in light of data that have become available since the 1980 report on this subject was published. The data include new, much more reliable dose estimates for the A-bomb survivors, the results of an additional 14 years of follow-up of the survivors for cancer mortality, recent results of follow-up studies of persons irradiated for medical purposes, and results of relevant experiments with laboratory animals and cultured cells. It analyzes the data in terms of risk estimates for specific organs in relation to dose and time after exposure, and compares radiation effects between Japanese and Western populations.