June 14, 2021

Download Ebook Free Nonsense 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 Date : 2016-02-26
Category : Science
Total pages :190
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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

Nature Encyclopedia of the Human Genome

Nature Encyclopedia of the Human Genome
Author : David N. Cooper
Publisher : Natures Pub Limited
Release Date : 2003
Category : Human genetics
Total pages :1135
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Nature Encyclopedia of the Human Genome is the only reference resource devoted entirely to the scientific basis and genetics and genomics research and the complex commercial, philosophical, and ethical questions that arise from it. It presents a comprehensive and rigorously detailed overview of current genome science and its groundbreaking applications, examining the many topics that surround the field from the differing perspectives of history, philosophy, ethics, law, medicine, public health, and industry. Core areas covered include: structural genomics, functional genomics, chromosome structure and function, evolution and comparative genomics, genome mapping and sequencing, genes and disease, behavioural and psychiatric genetics, mathematical and population genetics, proteomics, bioinformatics, ethical, legal and social issues and biographies or key figures.

Genetics Abstracts

Genetics Abstracts
Author : Anonim
Publisher : Unknown
Release Date : 2000
Category : Genetics
Total pages :129
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Stem Cells and Human Diseases

Stem Cells and Human Diseases
Author : Rakesh K. Srivastava,Sharmila Shankar
Publisher : Springer Science & Business Media
Release Date : 2012-01-31
Category : Medical
Total pages :630
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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 self-renewal, tissue homeostasis and drug resistance are also mentioned. Overall, these reviews will provide a new understanding of the influence of stem cells in tissue regeneration, disease regulation, therapy and drug resistance in several human diseases.

Chemical Abstracts

Chemical Abstracts
Author : Anonim
Publisher : Unknown
Release Date : 2002
Category : Chemistry
Total pages :129
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Thrombosis and Haemostasis

Thrombosis and Haemostasis
Author : Anonim
Publisher : Unknown
Release Date : 1995
Category : Diathesis
Total pages :129
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Proceedings of the National Academy of Sciences of the United States of America

Proceedings of the National Academy of Sciences of the United States of America
Author : National Academy of Sciences (U.S.)
Publisher : Unknown
Release Date : 2007
Category : Science
Total pages :129
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Genetic Disorders and the Fetus

Genetic Disorders and the Fetus
Author : Aubrey Milunsky
Publisher : Unknown
Release Date : 1998
Category : Medical
Total pages :1074
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Be cool in Italian! Perfect for kids eight- to fourteen-years old, Way-Cool Italian covers the latest in kid language as it is spoken in the Italian-speaking world. Inside you will find out how kids in another country talk about their computers, how they text each other, and how they speak about their favorite music on their iPods. Includes words and phrases on topics such as numbers, greetings, weather, time, as well as the cool language you really want to know like the words for mobile phones, computers, music, comics, clothes, sports--even the Wii and avatars!

New Concepts in Immunodeficiency Diseases

New Concepts in Immunodeficiency Diseases
Author : Sudhir Gupta,Claude Griscelli
Publisher : John Wiley & Sons Incorporated
Release Date : 1993-06-08
Category : Health & Fitness
Total pages :503
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Rapid progress has been made in the understanding of the basic concepts of the immune response at biochemical and molecular levels. This text reviews the development of innovative techniques for diagnosing disorders at a very early stage and for detecting their carrier states and discusses novel therapeutic approaches such as gene therapy and the use of biological response modifiers.

Liver and Biliary Diseases

Liver and Biliary Diseases
Author : Neil Kaplowitz
Publisher : Unknown
Release Date : 1996
Category : Medical
Total pages :783
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Motor Disorders

Motor Disorders
Author : David S. Younger
Publisher : Unknown
Release Date : 2005
Category : Medical
Total pages :747
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Updated and expanded for its Second Edition, this volume offers practical guidance in the diagnosis and treatment of motor disorders. The book brings together, in one convenient source, the entire spectrum of motor disorders caused by various etiologies. Seventeen new chapters cover vertigo and vestibular disorders; laryngeal motor disorders; facioscapulohumeral muscular dystrophy; myalgia, fibromyalgia, fasciculation, and cramps; plexus disorders; entrapment neuropathies; the diabetic neuropathies; Guillain-Barr� syndrome; rupture of an intervertebral disc and related spinal disorders; vitamin B12 (cobalamin) deficiency; adult normal pressure hydrocephalus; motor aspects of stroke; motor sequelae of dementia; motor sequelae of epilepsy; central nervous system vasculitis; traumatic brain injury; and motor disorders associated with cerebral palsy.

The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
Release Date : 2001
Category : Biochemical genetics
Total pages :6338
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Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Principles of Child Neurology

Principles of Child Neurology
Author : Bruce O. Berg
Publisher : McGraw-Hill
Release Date : 1996
Category : Medical
Total pages :1799
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Principles of Child Neurology is a comprehensive textbook on the diagnosis and management of neurologic disorders affecting neonates, infants, children, and adolescents. Patterned after Adams and Victor's Principles of Neurology, this text begins with ``Approach to the Patient,'' then details the cardinal manifestations and the major disease categories for diagnosing pediatric neurologic disorders.

Molecular Biology of Homo Sapiens

Molecular Biology of Homo Sapiens
Author : Marcello Siniscalco,James D. Watson
Publisher : Unknown
Release Date : 1986
Category : Chromosomes
Total pages :123
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Annual Review of Genetics

Annual Review of Genetics
Author : Herschel L. Roman
Publisher : Unknown
Release Date : 2002
Category : Electronic journals
Total pages :129
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