Nonsense Mutation Correction In Human Diseases
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Nonsense Mutation Correction In Human Diseases
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Author : Fabrice Lejeune
language : en
Publisher: Academic Press
Release Date : 2016-02-26
Nonsense Mutation Correction In Human Diseases written by Fabrice Lejeune and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-02-26 with Science categories.
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
Study Of Molecules With Nonsense Mutation Correction Capacity
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Author : Jieshuang Jia
language : en
Publisher:
Release Date : 2015
Study Of Molecules With Nonsense Mutation Correction Capacity written by Jieshuang Jia and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015 with categories.
Nonsense mutations represent approximately 10% of mutations found in the inherited geneticdiseases. mRNAs harboring a nonsense mutation are rapidly degraded by a quality-controlmechanism called nonsense-mediated mRNA decay (NMD) to prevent the synthesis of toxic or nonfunctionaltruncated proteins. Some stratégies have been developed to correct nonsense mutations.In our lab, we study 2 of them which are (i) the NMD inhibition and (ii) the PTC-readthroughactivation which is a mechanism leading to the incorporation of an amino-acid at the PTC position. Todesign new therapeutic tools for the inherited genetic diseases, our lab tested molecules byscreening to find ones with the capacity of NMD inhibition. For each molecules selected in thescreen, we measure the efficiency of NMD inhibition and PTC-readthrough activation of thesemolecules in cell lines harboring a nonsense mutation. We have shown that amlexanox not onlyinhibits NMD but also activâtes PTC readthrough. But the efficacy of amlexanox is still low. Wewanted to find other families of molecules capable of rescuing the expression of nonsense mutationcontainingmRNA with a higher efficacy or with some specificity. In my study, I found two spécialfamilies, one is the family of apoptosis inducers and the other is the family of cytoskeleton inhibitors.I found that apoptosis inducers can inhibit NMD by activating caspase pathway and cleave NMDfactors (UPF1 and UPF2). I also found that cytoskeleton inhibitors can inhibit NMD and some of themcan activate PTC-readthrough by inducing NMD factors (UPF1 or/and UPF3X) to concentrate in Pbodiesor in other cytoplasmic foci. The efficiencies of these molecules on NMD inhibition are similaror higher than amlexanox. Apoptosis inducers and cytoskeleton inhibitors demonstrated thatmolecules which can inhibit NMD or/and activate PTC-readthrough can be found and candemonstrate a higher correction of nonsense mutation efficiency than the existing molecules(ataluren or amlexanox for example).
Cystic Fibrosis In The Light Of New Research
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Author : Dennis Wat
language : en
Publisher: BoD – Books on Demand
Release Date : 2015-08-24
Cystic Fibrosis In The Light Of New Research written by Dennis Wat and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-08-24 with Medical categories.
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.
Human Gene Mutation
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Author : David N. Cooper
language : en
Publisher: Taylor & Francis
Release Date : 1995
Human Gene Mutation written by David N. Cooper and has been published by Taylor & Francis this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Science categories.
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.
Neurogenetics
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Author :
language : en
Publisher: Elsevier
Release Date : 2018-01-09
Neurogenetics written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-01-09 with Medical categories.
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
Disorders Of Voluntary Muscle
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Author : George Karpati
language : en
Publisher: Cambridge University Press
Release Date : 2001-07-12
Disorders Of Voluntary Muscle written by George Karpati and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-07-12 with Medical categories.
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Risk Factors For Cerebrovascular Disease And Stroke
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Author : Sudha Seshadri
language : en
Publisher: Oxford University Press
Release Date : 2016-03-07
Risk Factors For Cerebrovascular Disease And Stroke written by Sudha Seshadri and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-03-07 with Medical categories.
Risk Factors for Cerebrovascular Disease and Stroke address the relationship of a wide variety of vascular risk factors in the spectrum of cerebrovascular diseases. An international group of professionals the forefront of research and education, provide their expertise about environmental and genetic determinants for cerebrovascular disease and stroke. The authors aim to provide information on developments of genetic, environmental and lifestyle-related risk factors of various subtypes of stroke, and MRI-markers of cerebrovascular disease. One in two men, and one in three women after the age of 40, will develop a stroke in their lifetime. The burden of cerebrovascular disease extends far beyond that of acute clinical events such as stroke, with "covert" vascular injury on brain MRI being highly prevalent in older community-dwelling persons. Therefore, improving our understanding of the risk factors for stroke and cerebrovascular disease is of paramount importance for improving prevention strategies. Secular trends in stroke epidemiology, risk factors, and intermediate markers (including carotid ultrasound, brain MRI and circulating biomarkers) are presented. Cutting edge information on genetic, environmental and lifestyle-related risk factors of various subtypes of stroke and MRI-markers of cerebrovascular diseases are displayed. This important book is an essential reference to physicians interested in more effective primary prevention of stroke.
Health Risks From Exposure To Low Levels Of Ionizing Radiation
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Author : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation
language : en
Publisher: National Academies Press
Release Date : 2006-03-23
Health Risks From Exposure To Low Levels Of Ionizing Radiation written by Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-03-23 with Science categories.
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 damaging effects in human tissue that can be evident within days after exposure. However, it is the low-dose exposures that are the focus of this book. So-called “late” effects, such as cancer, are produced many years after the initial exposure. This book is among the first of its kind to include detailed risk estimates for cancer incidence in addition to cancer mortality. BEIR VII offers a full review of the available biological, biophysical, and epidemiological literature since the last BEIR report on the subject and develops the most up-to-date and comprehensive risk estimates for cancer and other health effects from exposure to low-level ionizing radiation.
Rna Turnover In Eukaryotes Analysis Of Specialized And Quality Control Rna Decay Pathways
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Author : Lynne E. Maquat
language : en
Publisher: Academic Press
Release Date : 2008-12-29
Rna Turnover In Eukaryotes Analysis Of Specialized And Quality Control Rna Decay Pathways written by Lynne E. Maquat and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-12-29 with Science categories.
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
Spotlight On Familial And Hereditary Gastric Cancer
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Author : Giovanni Corso
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-06-04
Spotlight On Familial And Hereditary Gastric Cancer written by Giovanni Corso and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-06-04 with Medical categories.
In this book we have taken a comprehensive look at the subject of familial and hereditary gastric tumors. In particular, the aim of this novel editorial work is to propose the correct management of hereditary diffuse gastric cancer patients, focusing in particular on E-cadherin germline mutations, clinical criteria definition, genetic screening and molecular mechanisms, pathology and microscopic features, surgical treatment and clinical approach for asymptomatic mutation carriers. We also describe other inherited predispositions involving gastric carcinoma.