Nonsense Mutation Correction In Human Diseases

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Nonsense Mutation Correction in Human Diseases

Author : Fabrice Lejeune
Publisher : Academic Press
ISBN 13 : 0128044691
Total Pages : 192 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Nonsense Mutation Correction in Human Diseases by : Fabrice Lejeune

Download or read book Nonsense Mutation Correction in Human Diseases written by Fabrice Lejeune and published by Academic Press. This book was released on 2016-02-26 with total page 192 pages. Available in PDF, EPUB and Kindle. 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

Study of Molecules with Nonsense Mutation Correction Capacity

Author : Jieshuang Jia
Publisher :
ISBN 13 :
Total Pages : 242 pages
Book Rating : 4.:/5 (936 download)

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Book Synopsis Study of Molecules with Nonsense Mutation Correction Capacity by : Jieshuang Jia

Download or read book Study of Molecules with Nonsense Mutation Correction Capacity written by Jieshuang Jia and published by . This book was released on 2015 with total page 242 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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).

Human Gene Mutation

Author : David N. Cooper
Publisher : Taylor & Francis
ISBN 13 : 9781859960554
Total Pages : 412 pages
Book Rating : 4.9/5 (65 download)

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Book Synopsis Human Gene Mutation by : David N. Cooper

Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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, Part II

Author :
Publisher : Elsevier
ISBN 13 : 0444640770
Total Pages : 480 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Neurogenetics, Part II by :

Download or read book Neurogenetics, Part II written by and published by Elsevier. This book was released on 2018-01-29 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Cystic Fibrosis in the Light of New Research

Author : Dennis Wat
Publisher : BoD – Books on Demand
ISBN 13 : 9535121529
Total Pages : 394 pages
Book Rating : 4.5/5 (351 download)

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Book Synopsis Cystic Fibrosis in the Light of New Research by : Dennis Wat

Download or read book Cystic Fibrosis in the Light of New Research written by Dennis Wat and published by BoD – Books on Demand. This book was released on 2015-08-24 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Stiehm's Immune Deficiencies

Author : Kathleen E. Sullivan
Publisher : Academic Press
ISBN 13 : 0128172959
Total Pages : 1334 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Stiehm's Immune Deficiencies by : Kathleen E. Sullivan

Download or read book Stiehm's Immune Deficiencies written by Kathleen E. Sullivan and published by Academic Press. This book was released on 2020-05-23 with total page 1334 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stiehm’s Immune Deficiencies: Inborn Errors in Immunity, Second Edition, is ideal for physicians and other caregivers who specialize in immunology, allergies, infectious diseases and pulmonary medicine. It provides a validated source of information for care delivery to patients, covering approaches to diagnosis that use both new genetic information and emphasize screening strategies. Management has changed dramatically over the past five years, so approaches to infection and autoimmunity are emphasized in an effort to improve outcomes and disseminate new information on the uses of targeted therapy. Covers immune deficiencies that are presented in a practical way, providing helpful information for active clinicians Fills an increasingly deep gap in the information available to clinicians Presents both clinical management and scientific advances for immune deficiencies Provides a primary resource for physicians in the field of immunodeficiencies Includes website access to a range of videos relevant to the topics discussed

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

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

Author : Lynne E. Maquat
Publisher : Academic Press
ISBN 13 : 9780123745842
Total Pages : 464 pages
Book Rating : 4.7/5 (458 download)

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Book Synopsis RNA Turnover in Eukaryotes: Analysis of Specialized and Quality Control RNA Decay Pathways by : Lynne E. Maquat

Download or read book RNA Turnover in Eukaryotes: Analysis of Specialized and Quality Control RNA Decay Pathways written by Lynne E. Maquat and published by Academic Press. This book was released on 2008-12-29 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Health Risks from Exposure to Low Levels of Ionizing Radiation

Author : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation
Publisher : National Academies Press
ISBN 13 : 0309133343
Total Pages : 422 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Health Risks from Exposure to Low Levels of Ionizing Radiation by : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation

Download or read book 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 published by National Academies Press. This book was released on 2006-03-23 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Disorders of Voluntary Muscle

Author : George Karpati
Publisher : Cambridge University Press
ISBN 13 : 9780521650625
Total Pages : 800 pages
Book Rating : 4.6/5 (56 download)

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Book Synopsis Disorders of Voluntary Muscle by : George Karpati

Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Human Prion Diseases

Author :
Publisher : Elsevier
ISBN 13 : 0444639535
Total Pages : 520 pages
Book Rating : 4.4/5 (446 download)

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Book Synopsis Human Prion Diseases by :

Download or read book Human Prion Diseases written by and published by Elsevier. This book was released on 2018-06-07 with total page 520 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Prion Diseases, Volume 153 is designed to update the reader on the latest advances and clinical aspects of prion diseases. The book is organized into five sections, including the pathophysiology of prions and a description of animal and human diseases. This is followed by detailed reports on recent advances in diagnosis strategies for the development of novel anti-prion molecules and possible designs of clinical trials in such a rare disease. An introductory chapter gives an extensive historical background of prion research, with a final chapter highlighting recent progress, and more importantly, unsolved problems. - Offers an authoritative overview of prion diseases in humans, detailing the pathogenesis of the disease, clinical investigations, and the diagnosis of both the genetic and acquired forms - Provides clarity and context by presenting prion diseases in relation to other neurodegenerative diseases in humans - Emphasizes the unique properties of prion diseases and consequent problems they can cause, both clinically and in public health terms

Astrocytes in (Patho)Physiology of the Nervous System

Author : Vladimir Parpura
Publisher : Springer Science & Business Media
ISBN 13 : 0387794921
Total Pages : 701 pages
Book Rating : 4.3/5 (877 download)

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Book Synopsis Astrocytes in (Patho)Physiology of the Nervous System by : Vladimir Parpura

Download or read book Astrocytes in (Patho)Physiology of the Nervous System written by Vladimir Parpura and published by Springer Science & Business Media. This book was released on 2008-12-11 with total page 701 pages. Available in PDF, EPUB and Kindle. Book excerpt: Astrocytes were the original neuroglia that Ramón y Cajal visualized in 1913 using a gold sublimate stain. This stain targeted intermediate filaments that we now know consist mainly of glial fibrillary acidic protein, a protein used today as an astrocytic marker. Cajal described the morphological diversity of these cells with some ast- cytes surrounding neurons, while the others are intimately associated with vasculature. We start the book by discussing the heterogeneity of astrocytes using contemporary tools and by calling into question the assumption by classical neuroscience that neurons and glia are derived from distinct pools of progenitor cells. Astrocytes have long been neglected as active participants in intercellular communication and information processing in the central nervous system, in part due to their lack of electrical excitability. The follow up chapters review the “nuts and bolts” of ast- cytic physiology; astrocytes possess a diverse assortment of ion channels, neu- transmitter receptors, and transport mechanisms that enable the astrocytes to respond to many of the same signals that act on neurons. Since astrocytes can detect chemical transmitters that are released from neurons and can release their own extracellular signals there is an increasing awareness that they play physiological roles in regulating neuronal activity and synaptic transmission. In addition to these physiological roles, it is becoming increasingly recognized that astrocytes play critical roles during pathophysiological states of the nervous system; these states include gliomas, Alexander disease, and epilepsy to mention a few.

Human Adult Stem Cells

Author : John Masters
Publisher : Springer
ISBN 13 : 9789048122684
Total Pages : 208 pages
Book Rating : 4.1/5 (226 download)

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Book Synopsis Human Adult Stem Cells by : John Masters

Download or read book Human Adult Stem Cells written by John Masters and published by Springer. This book was released on 2009-06-04 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Author : Sara Mole
Publisher : OUP Oxford
ISBN 13 : 019101558X
Total Pages : 480 pages
Book Rating : 4.1/5 (91 download)

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Book Synopsis The Neuronal Ceroid Lipofuscinoses (Batten Disease) by : Sara Mole

Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.

Hereditary Effects of Radiation

Author : United Nations. Scientific Committee on the Effects of Atomic Radiation
Publisher : The Committee
ISBN 13 :
Total Pages : 166 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Hereditary Effects of Radiation by : United Nations. Scientific Committee on the Effects of Atomic Radiation

Download or read book Hereditary Effects of Radiation written by United Nations. Scientific Committee on the Effects of Atomic Radiation and published by The Committee. This book was released on 2001 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2001 report completed a comprehensive review of the risks to offspring following parental exposure to radiation. The review included an evaluation of those diseases which have both hereditary and environmental components. The major finding is that the total hereditary risk to the first generation following radiation is less than one tenth of the risk of fatal carcinogenesis following irrradiation. The Committee concluded that a sounder basis now exists for estimating the hereditary risks of radiation exposure. This is due to advances in molecular genetics, and in the evaluation of multifactorial diseases, such as coronary heart disease.

Cancer Genomics for the Clinician

Author : Ramaswamy Govindan, MD
Publisher : Springer Publishing Company
ISBN 13 : 082616868X
Total Pages : 184 pages
Book Rating : 4.8/5 (261 download)

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Book Synopsis Cancer Genomics for the Clinician by : Ramaswamy Govindan, MD

Download or read book Cancer Genomics for the Clinician written by Ramaswamy Govindan, MD and published by Springer Publishing Company. This book was released on 2019-01-28 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cancer Genomics for the Clinician is a practical guide to cancer genomics and its application to cancer diagnosis and care. The book begins with a brief overview of the various types of genetic alterations that are encountered in cancer, followed by accessible and applicable information on next generation sequencing technology and bioinformatics; tumor heterogeneity; whole genome, exome, and transcriptome sequencing; epigenomics; and data analysis and interpretation. Each chapter provides essential explanations of concepts, terminology, and methods. Also included are tips for interpreting and analyzing molecular data, as well as a discussion of molecular predictors for targeted therapies covering hematologic malignancies and solid tumors. The final chapter explains the use of FDA-approved genomic-based targeted therapies for breast cancer, lung cancer, sarcomas, gastrointestinal cancers, urologic cancers, head and neck cancer, thyroid cancer, and many more. Assembled in an accessible format specifically designed for the non-expert, this book provides the clinical oncologist, early career practitioner, and trainee with an essential understanding of the molecular and genetic basis of cancer and the clinical aspects that have led to advancements in diagnosis and treatment. With this resource, physicians and trainees will increase their breadth of knowledge and be better equipped to educate patients and families who want to know more about their genetic predispositions to cancer and the targeted therapies that could be considered and prescribed. Key Features: Describes how cancer genomics and next generation sequencing informs cancer screening, risk factors, therapeutic options, and clinical management across cancer types Explains what mutations are, what tests are needed, and how to interpret the results Provides information on FDA-approved targeted therapies that are being used in the clinic Covers different sequencing platforms and technologies and how they perform in research settings Includes access to the fully searchable eBook

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author : Roger N. Rosenberg
Publisher : Elsevier
ISBN 13 : 0124105491
Total Pages : 1465 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg

Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations