Nonsense Mutation Correction in Human Diseases (ePub)

Name: Nonsense Mutation Correction in Human Diseases
Brand: Elsevier Science & Techn.
SKU: 75413138
Price: 74.00 EUR
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An Approach for Targeted Medicine (Sprache: Englisch)

Autoren: Fabrice Lejeune , Hana Benhabiles , Jieshuang Jia

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Nonsense Mutation Correction in Human Diseases, Fabrice Lejeune, Hana Benhabiles, Jieshuang Jia

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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...

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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

Autoren-Porträt von Fabrice Lejeune, Hana Benhabiles, Jieshuang Jia

Dr. Fabrice Lejenue studies the mechanisms that regulate or deregulate the quality control of protein synthesis with the aim to one day utilize these mechanisms to chemically treat diseases such as cystic fibrosis, muscular dystrophy and cancer. He studied under Dr. Lynne Maquat, Director, Center for RNA Biology, and the scientist responsible for discovering the control mechanism messenger RNA carrying nonsense mutations in mammals. Dr. Lejeune continues this work at his lab at the Pasteur Institute.

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Bibliographische Angaben

Autoren: Fabrice Lejeune , Hana Benhabiles , Jieshuang Jia
2016, 190 Seiten, Englisch
Verlag: Elsevier Science & Techn.
ISBN-10: 0128044691
ISBN-13: 9780128044698
Erscheinungsdatum: 26.02.2016

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Dateiformat: ePub
Größe: 14 MB
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Englisch

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"Not only is the content well selected and planned, but the language is clear and simple and the illustrations are magnificent…This book is unique - there are no comparable books. The authors have achieved a tremendous goal. Score: 100 - 5 Stars!" --Doody's

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