Nonsense 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 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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  • Author : Fabrice Lejeune
  • Publisher : Academic Press
  • Pages : 190 pages
  • ISBN : 0128044691
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKNonsense Mutation Correction in Human Diseases

Nonsense Mutation Correction in Human Diseases

Nonsense Mutation Correction in Human Diseases
  • Author : Fabrice Lejeune,Hana Benhabiles,Jieshuang Jia
  • Publisher : Academic Press
  • Release : 26 February 2016
GET THIS 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 : 24 August 2015
GET THIS 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.

Human Gene Mutation

Human Gene Mutation
  • Author : David N. Cooper,Michael Krawczak
  • Publisher : Taylor & Francis
  • Release : 17 June 1995
GET THIS 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.

Recoding: Expansion of Decoding Rules Enriches Gene Expression

Recoding: Expansion of Decoding Rules Enriches Gene Expression
  • Author : John F. Atkins,Raymond F. Gesteland
  • Publisher : Springer Science & Business Media
  • Release : 10 March 2010
GET THIS BOOKRecoding: Expansion of Decoding Rules Enriches Gene Expression

The literature on recoding is scattered, so this superb book ?lls a need by prov- ing up-to-date, comprehensive, authoritative reviews of the many kinds of recoding phenomena. Between 1961 and 1966 my colleagues and I deciphered the genetic code in Escherichia coli and showed that the genetic code is the same in E. coli, Xenopus laevis, and guinea pig tissues. These results showed that the code has been c- served during evolution and strongly suggested that the code appeared very early during

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 : 02 September 2011
GET THIS 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

Pluripotent Stem Cells

Pluripotent Stem Cells
  • Author : Deepa Bhartiya,Nibedita Lenka
  • Publisher : BoD – Books on Demand
  • Release : 28 August 2013
GET THIS BOOKPluripotent Stem Cells

Stem cells have generated a lot of excitement among the researchers, clinicians and the public alike. Various types of stem cells are being evaluated for their regenerative potential. Marginal benefit resulting by transplanting autologus stem cells (deemed to be absolutely safe) in various clinical conditions has been proposed to be a growth factor effect rather than true regeneration. In contrast, various pre-clinical studies have been undertaken, using differentiated cells from embryonic stem cells or induced pluripotent stem cells have shown

Nonsense-Mediated mRNA Decay

Nonsense-Mediated mRNA Decay
  • Author : Lynne E. Maquat
  • Publisher : CRC Press
  • Release : 28 February 2006
GET THIS BOOKNonsense-Mediated mRNA Decay

Nonsense-Mediated mRNA Decay is the first book devoted to nonsense-mediated mRNA decay (NMD). The rationale for such a book is the enormous information that studies of NMD have provided on the intricacies of post-transcriptional gene expression. The first five sections of the book are divided according to organism and begin with chapters on S. cere

Epidemiology of Brain and Spinal Tumors

Epidemiology of Brain and Spinal Tumors
  • Author : Jahangir Moini,Nicholas Avgeropoulos,Mohtashem Samsam
  • Publisher : Academic Press
  • Release : 16 April 2021
GET THIS 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 (

Cell Biology by the Numbers

Cell Biology by the Numbers
  • Author : Ron Milo,Rob Phillips
  • Publisher : Garland Science
  • Release : 07 December 2015
GET THIS BOOKCell Biology by the Numbers

A Top 25 CHOICE 2016 Title, and recipient of the CHOICE Outstanding Academic Title (OAT) Award. How much energy is released in ATP hydrolysis? How many mRNAs are in a cell? How genetically similar are two random people? What is faster, transcription or translation?Cell Biology by the Numbers explores these questions and dozens of others provid

Neurogenetics

Neurogenetics
  • Author : Anonim
  • Publisher : Elsevier
  • Release : 09 January 2018
GET THIS 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

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 : 23 March 2006
GET THIS 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

Alzheimer's Disease

Alzheimer's Disease
  • Author : Inga Zerr
  • Publisher : BoD – Books on Demand
  • Release : 01 July 2015
GET THIS BOOKAlzheimer's Disease

There is a wide scope of clinical phenomenology in Alzheimers disease, regarding the age of onset, presenting features, rate of progression and appearance of other clinical manifestation. Although clinical appearance and neuropathological hallmarks have been defining AD since its first description, major factors which trigger pathology are still unknown. The role of comorbidity is discussed controversially. Important environmental risk factors in AD development are continuous stress, low education and cardiovascular risk factors such as alcohol intake, smoking, hypertension. The role

Thalassemia and Other Hemolytic Anemias

Thalassemia and Other Hemolytic Anemias
  • Author : Isam Jaber Al-Zwaini
  • Publisher : BoD – Books on Demand
  • Release : 11 July 2018
GET THIS BOOKThalassemia and Other Hemolytic Anemias

Thalassemia is a very common disease first described by pediatrician Thomas Benton Cooley in 1925 who described it in a patient of Italian origin. At that time, it was designated as Cooley's anemia. George Hoyt Whipple, a Nobel prize winner, and W. L. Bradford, a professor of pediatrics at the University of Rochester, coined the term thalassemia in 1936, which in Greek means anemia of the sea (Thalassa means "sea", and emia means "blood"), due to the fact that it is very