Nonsense Mutation Correction in Human Diseases

Written By Fabrice Lejeune
Nonsense Mutation Correction in Human Diseases
  • Publsiher : Academic Press
  • Release : 26 February 2016
  • ISBN : 0128044691
  • Pages : 190 pages
  • Rating : 4/5 from 21 reviews
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Read or download book entitled Nonsense Mutation Correction in Human Diseases written by Fabrice Lejeune which was release on 26 February 2016, this book published by Academic Press. Available in PDF, EPUB and Kindle Format. Book excerpt: 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

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
  • Total pages : 190
  • ISBN : 0128044691
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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 ...

Vogel and Motulsky s Human Genetics

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  • Author : Michael Speicher,Stylianos E. Antonarakis,Arno G. Motulsky
  • Publisher : Springer Science & Business Media
  • Release Date : 2009-11-26
  • Total pages : 981
  • ISBN : 0128044691
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Summary : 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 ...

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  • Publisher : Academic Press
  • Release Date : 2021-04-16
  • Total pages : 552
  • ISBN : 0128044691
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Summary : 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, ...

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  • Author : Anonim
  • Publisher : Academic Press
  • Release Date : 2019-02-15
  • Total pages : 300
  • ISBN : 0128044691
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Summary : G Protein Signaling Pathways in Health and Disease, Volume 161 in the Progress in Molecular Biology and Translational Science series, provides informative and exciting monographs on a wide variety of research topics related to G Protein Signaling Pathways in Health and Disease. The series gives in-depth knowledge on the important molecular ...

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  • Publisher : Jones & Bartlett Publishers
  • Release Date : 2011-04-18
  • Total pages : 809
  • ISBN : 0128044691
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Summary : The Second Edition of Lewin's Essential GENES continues to provide students with the latest findings in the field of molecular biology and molecular genetics. An exceptional new pedagogy enhances student learning and helps readers understand and retain key material like never before. New Concept and Reasoning Checks at the end ...

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  • Publisher : Springer Science & Business Media
  • Release Date : 2012-01-31
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  • ISBN : 0128044691
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Summary : The main objective of this book is to provide a comprehensive review on stem cells and their role in tissue regeneration, homeostasis and therapy. In addition, the role of cancer stem cells in cancer initiation, progression and drug resistance are discussed. The cell signaling pathways and microRNA regulating stem cell ...

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  • Author : Anonim
  • Publisher : Academic Press
  • Release Date : 2021-06-12
  • Total pages : 390
  • ISBN : 0128044691
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Summary : Reprogramming the Genome: CRISPR-Cas-based Human Disease Therapy, presents the collation of chapters written by eminent scientists worldwide. CRISPR-Cas9 is a key technology for targeted genome editing and regulation in a number of organisms including mammalian cells. It is a rapid, simple, and cost-effective solution. CRISPR-Cas system has recently gained much ...

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  • Publisher : Elsevier
  • Release Date : 2014-08-01
  • Total pages : 5000
  • ISBN : 0128044691
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Summary : Pathobiology of Human Disease bridges traditional morphologic and clinical pathology, molecular pathology, and the underlying basic science fields of cell biology, genetics, and molecular biology, which have opened up a new era of research in pathology and underlie the molecular basis of human disease. The work spans more than 48 different ...

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  • Author : ALEXANDER BIRBRAIR
  • Publisher : Academic Press
  • Release Date : 2020-07-16
  • Total pages : 320
  • ISBN : 0128044691
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Summary : Recent Advances in iPSC Disease Modeling, Volume 1 addresses how induced pluripotent stem cells can be used to model various diseases. Somatic cells are reprogrammed into induced pluripotent stem cells by the expression of specific transcription factors. These cells are transforming biomedical research in the last 15 years. This volume teaches readers ...

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  • Publisher : Academic Press
  • Release Date : 2021-06-10
  • Total pages : 174
  • ISBN : 0128044691
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Summary : In the lung, more recent data have been accumulated on lung stem cell biology/function and the potential applications of stem cells in pulmonary diseases that are facilitated by the recent development of a broad range of cutting edge in vitro and in vivo research tools and approaches, including mouse ...

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  • Publisher : Elsevier Health Sciences
  • Release Date : 2015-10-29
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  • ISBN : 0128044691
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Summary : The Year Book of Pulmonary Disease brings you abstracts of the articles that reported the year's breakthrough developments in pulmonary disease carefully selected from more than 500 journals worldwide. Expert commentaries evaluate the clinical importance of each article and discuss its application to your practice. Topics such as Asthma and Cystic ...

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  • Publisher : Elsevier Health Sciences
  • Release Date : 2017-09-21
  • Total pages : 2969
  • ISBN : 0128044691
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Summary : Since 1975, Dr. Kenneth Swaiman’s classic text has been the reference of choice for authoritative guidance in pediatric neurology, and the 6th Edition continues this tradition of excellence with thorough revisions that bring you fully up to date with all that’s new in the field. Five new sections, 62 new ...

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  • Publisher : Elsevier Health Sciences
  • Release Date : 2018-02-02
  • Total pages : 1456
  • ISBN : 0128044691
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Summary : More than two million medical students, doctors and other health professionals around the globe have owned a copy of Davidson’s Principles and Practice of Medicine since it was first published. Now in its 23rd Edition, this textbook describes the pathophysiology and clinical features of the most frequently encountered conditions ...

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  • Publisher : Springer Science & Business Media
  • Release Date : 2009-09-29
  • Total pages : 228
  • ISBN : 0128044691
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Summary : Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle diseases. Chapters in The Sarcomere and Skeletal Muscle Disease provide an up-to-date review of diseases caused by mutated proteins in the different sub-compartments of the sarcomere, document the techniques ...

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  • Publisher : John Wiley & Sons
  • Release Date : 2022-03-15
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  • ISBN : 0128044691
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Summary : GENOME EDITING IN DRUG DISCOVERY A practical guide for researchers and professionals applying genome editing techniques to drug discovery In Genome Editing in Drug Discovery, a team of distinguished biologists delivers a comprehensive exploration of genome editing in the drug discovery process, with coverage of the technology’s history, current ...