Nonsense Mutation Correction in Human Diseases

Book Nonsense Mutation Correction in Human Diseases Cover

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  • Publisher : Academic Press
  • Release : 26 February 2016
  • ISBN : 9780128044698
  • Page : 190 pages
  • Rating : 4.5/5 from 103 voters

Nonsense Mutation Correction in Human Diseases Book PDF summary

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

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Nonsense Mutation Correction in Human Diseases

Nonsense Mutation Correction in Human Diseases
  • Author : Fabrice Lejeune,Hana Benhabiles,Jieshuang Jia
  • Publisher : Academic Press
  • Release Date : 2016-02-26
  • ISBN : 9780128044698
DOWNLOAD BOOKNonsense Mutation Correction in Human Diseases

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

Cystic Fibrosis in the Light of New Research

Cystic Fibrosis in the Light of New Research
  • Author : Dennis Wat
  • Publisher : BoD – Books on Demand
  • Release Date : 2015-08-24
  • ISBN : 9789535121527
DOWNLOAD BOOKCystic Fibrosis in the Light of New Research

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.

Neurogenetics

Neurogenetics
  • Author : Anonim
  • Publisher : Elsevier
  • Release Date : 2018-01-09
  • ISBN : 9780444640772
DOWNLOAD BOOKNeurogenetics

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

Human Gene Mutation

Human Gene Mutation
  • Author : David N. Cooper,Michael Krawczak
  • Publisher : Taylor & Francis
  • Release Date : 1995
  • ISBN : 1859960553
DOWNLOAD BOOKHuman Gene Mutation

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.

Alternative Splicing and Disease

Alternative Splicing and Disease
  • Author : Philippe Jeanteur
  • Publisher : Springer Science & Business Media
  • Release Date : 2006-10-04
  • ISBN : 9783540344490
DOWNLOAD BOOKAlternative Splicing and Disease

Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing. Alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences. The book also outlines possible targets for therapy.

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

RNA Turnover in Eukaryotes: Analysis of Specialized and Quality Control RNA Decay Pathways
  • Author : Lynne E. Maquat,Megerditch Kiledjian
  • Publisher : Academic Press
  • Release Date : 2011-09-02
  • ISBN : 0080923321
DOWNLOAD BOOKRNA Turnover in Eukaryotes: Analysis of Specialized and Quality Control RNA Decay Pathways

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

Genetic Diseases of the Eye

Genetic Diseases of the Eye
  • Author : Elias I. Traboulsi
  • Publisher : OUP USA
  • Release Date : 2012-01-12
  • ISBN : 9780195326147
DOWNLOAD BOOKGenetic Diseases of the Eye

This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare

Emerging Therapeutic Approaches for Cystic Fibrosis

Emerging Therapeutic Approaches for Cystic Fibrosis
  • Author : Miquéias Lopes-Pacheco,Nicoletta Pedemonte,Anthony Kicic
  • Publisher : Frontiers Media SA
  • Release Date : 2020-01-27
  • ISBN : 9782889633678
DOWNLOAD BOOKEmerging Therapeutic Approaches for Cystic Fibrosis

Molecular Biology of the Cell

Molecular Biology of the Cell
  • Author : Bruce Alberts
  • Publisher : Unknown
  • Release Date : 2004
  • ISBN : 0815332181
DOWNLOAD BOOKMolecular Biology of the Cell

Vogel and Motulsky's Human Genetics

Vogel and Motulsky's Human Genetics
  • Author : Michael Speicher,Stylianos E. Antonarakis,Arno G. Motulsky
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-11-26
  • ISBN : 9783540376545
DOWNLOAD BOOKVogel and Motulsky's Human Genetics

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

Epidemiology of Brain and Spinal Tumors

Epidemiology of Brain and Spinal Tumors
  • Author : Jahangir Moini,Nicholas Avgeropoulos,Mohtashem Samsam
  • Publisher : Academic Press
  • Release Date : 2021-04-16
  • ISBN : 9780128217559
DOWNLOAD BOOKEpidemiology of Brain and Spinal Tumors

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 (

Prenatal Gene Therapy

Prenatal Gene Therapy
  • Author : Charles Coutelle,Simon N. Waddington
  • Publisher : Humana Press
  • Release Date : 2012-06-07
  • ISBN : 161779872X
DOWNLOAD BOOKPrenatal Gene Therapy

The emerging field of prenatal gene therapy is founded on scientific and technical advances in fetal medicine, molecular biology and gene therapy. This preclinical research subject aims at applying gene therapy during pregnancy for the prevention of human diseases caused by early onset congenital or gestation related conditions. In Prenatal Gene Therapy: Concepts, Methods and Protocols, expert researchers in the field detail many of the protocols which are now commonly used to study gene therapy, fetal medicine and medical ethics.

Kendig and Chernick's Disorders of the Respiratory Tract in Children E-Book

Kendig and Chernick's Disorders of the Respiratory Tract in Children E-Book
  • Author : Robert W. Wilmott,Thomas F. Boat,Andrew Bush,Victor Chernick,Robin R Deterding,Felix Ratjen
  • Publisher : Elsevier Health Sciences
  • Release Date : 2012-02-25
  • ISBN : 9781455740505
DOWNLOAD BOOKKendig and Chernick's Disorders of the Respiratory Tract in Children E-Book

Kendig, Chernick’s Disorders of the Respiratory Tract in Children is the definitive medical reference book to help you confront critical challenges using the latest knowledge and techniques. You’ll get the state-of-the-art answers you need to offer the best care to young patients. Tackle the toughest challenges and improve patient outcomes with coverage of all the common and rare respiratory problems found in newborns and children worldwide. Get a solid foundation of knowledge to better understand and treat your

Health Risks from Exposure to Low Levels of Ionizing Radiation

Health Risks from Exposure to Low Levels of Ionizing Radiation
  • Author : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation,National Research Council
  • Publisher : National Academies Press
  • Release Date : 2006-03-23
  • ISBN : 9780309133340
DOWNLOAD BOOKHealth Risks from Exposure to Low Levels of Ionizing Radiation

This book is the seventh in a series of titles from the National Research Council that addresses the effects of exposure to low dose LET (Linear Energy Transfer) ionizing radiation and human health. Updating information previously presented in the 1990 publication, Health Effects of Exposure to Low Levels of Ionizing Radiation: BEIR V, this book draws upon new data in both epidemiologic and experimental research. Ionizing radiation arises from both natural and man-made sources and at very high doses can produce

Cardiac Gene Therapy

Cardiac Gene Therapy
  • Author : Kiyotake Ishikawa
  • Publisher : Humana Press
  • Release Date : 2016-12-02
  • ISBN : 1493965867
DOWNLOAD BOOKCardiac Gene Therapy

This detailed book provides methodological information on cardiac gene delivery, from classic to state-of-the-art technologies and techniques. Efficient, cardiac-specific, and safe vectors, as well as refined vector delivery methods, are key for successful cardiac gene transfer and eventually for improving patients’ outcomes. Newer vectors and more efficient vector delivery methods have the potential to dramatically improve gene transduction efficacy, while novel gene manipulation techniques enforce the therapeutic power and broaden disease targets. Written for the highly successful Methods in Molecular