Skip to main content

Nonsense Mutation Correction In Human Diseases

Download Nonsense Mutation Correction In Human Diseases Full eBooks in PDF, EPUB, and kindle. Nonsense Mutation Correction In Human Diseases is one my favorite book and give us some inspiration, very enjoy to read. you could read this book anywhere anytime directly from your device.

Nonsense Mutation Correction in Human Diseases

Nonsense Mutation Correction in Human Diseases Book
Author : Fabrice Lejeune,Hana Benhabiles,Jieshuang Jia
Publisher : Academic Press
Release : 2016-02-26
ISBN : 0128044691
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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

Cystic Fibrosis in the Light of New Research

Cystic Fibrosis in the Light of New Research Book
Author : Dennis Wat
Publisher : BoD – Books on Demand
Release : 2015-08-24
ISBN : 9535121529
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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.

Neurogenetics

Neurogenetics Book
Author : Anonim
Publisher : Elsevier
Release : 2018-01-09
ISBN : 0444640770
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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

Human Gene Mutation

Human Gene Mutation Book
Author : David N. Cooper,Michael Krawczak
Publisher : Taylor & Francis
Release : 1995
ISBN : 9781859960554
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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.

Vogel and Motulsky s Human Genetics

Vogel and Motulsky s Human Genetics Book
Author : Michael Speicher,Stylianos E. Antonarakis,Arno G. Motulsky
Publisher : Springer Science & Business Media
Release : 2009-11-26
ISBN : 3540376542
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.

Epidemiology of Brain and Spinal Tumors

Epidemiology of Brain and Spinal Tumors Book
Author : Jahangir Moini,Nicholas Avgeropoulos,Mohtashem Samsam
Publisher : Academic Press
Release : 2021-04-16
ISBN : 0128217553
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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 (including molecular epidemiology), diagnosis and treatment. This book is appropriate for neuroscience researchers, medical professionals and anyone interested in a complete guide to visualizing and understanding CNS tumors. Provides the most up-to-date information surrounding the epidemiology, biology and imaging techniques for brain and spinal tumors, including CT, MRI, PET, and others Includes full color figures, photos, tables, graphs and radioimaging Contains information that will be valuable to anyone interested in the field of neurooncology and the treatment of patients with brain and spinal tumors Serves as a source of background information for basic scientists and pharmaceutical researchers who have an interest in imaging and treatment

Alternative Splicing and Disease

Alternative Splicing and Disease Book
Author : Philippe Jeanteur
Publisher : Springer Science & Business Media
Release : 2006-10-04
ISBN : 3540344497
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Splicing of primary RNA transcript is a quasi-systematic step of gene expression in higher organisms. This is the first book to highlight the medical implications, i.e. diseases, caused by alternative splicing. Alternative splicing not only vastly increases protein diversity but also offers numerous opportunities for aberrant splicing events with pathological consequences. The book also outlines possible targets for therapy.

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 Book
Author : Lynne E. Maquat,Megerditch Kiledjian
Publisher : Academic Press
Release : 2011-09-02
ISBN : 9780080923321
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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

The Plague Year

The Plague Year Book
Author : Lawrence Wright
Publisher : Knopf
Release : 2021
ISBN : 0593320727
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Beginning with the absolutely critical first moments of the outbreak in China, and ending with an epilogue on the vaccine rollout and the unprecedented events between the election of Joseph Biden and his inauguration, Lawrence Wright's The Plague Year surges forward with essential information--and fascinating historical parallels--examining the medical, economic, political, and social ramifications of the COVID-19 pandemic.

G Protein Signaling Pathways in Health and Disease

G Protein Signaling Pathways in Health and Disease Book
Author : Anonim
Publisher : Academic Press
Release : 2019-02-15
ISBN : 0128167246
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

G Protein Signaling Pathways in Health and Disease, Volume 161 in the Progress in Molecular Biology and Translational Science series, provides informative and exciting monographs on a wide variety of research topics related to G Protein Signaling Pathways in Health and Disease. The series gives in-depth knowledge on the important molecular biological aspects of organismal physiology and function, along with insights on how this knowledge can be applied to understand and ameliorate human disease. This updated release covers Diseases associated with mutations in CNGA3, Mutations in arrestins, Diseases caused by mutations in GPR101, Diseases caused by mutations in lutropin receptor, and much more. Comprises 15-20 chapters, providing substantial coverage on a given topic Contains ample use of tables, diagrams, schemata and color figures to enhance the reader's ability to rapidly grasp the information provided in each chapter Provides a comprehensive guide to the latest information available on prions, viruses, bacteria, and eukaryotes

Molecular Therapies for Inherited Retinal Diseases

Molecular Therapies for Inherited Retinal Diseases Book
Author : Rob W.J. Collin,Alejandro Garanto
Publisher : Unknown
Release : 2020
ISBN : 9783039431779
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. 'Classical' gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene--or even every mutation--may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside.

Stem Cells and Human Diseases

Stem Cells and Human Diseases Book
Author : Rakesh K. Srivastava,Sharmila Shankar
Publisher : Springer Science & Business Media
Release : 2012-01-31
ISBN : 9400728018
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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.

Health Risks from Exposure to Low Levels of Ionizing Radiation

Health Risks from Exposure to Low Levels of Ionizing Radiation Book
Author : Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation,National Research Council
Publisher : National Academies Press
Release : 2006-03-23
ISBN : 0309133343
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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.

Reprogramming the Genome CRISPR Cas based Human Disease Therapy

Reprogramming the Genome  CRISPR Cas based Human Disease Therapy Book
Author : Anonim
Publisher : Academic Press
Release : 2021-06-12
ISBN : 0323853242
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Reprogramming the Genome: CRISPR-Cas-based Human Disease Therapy, presents the collation of chapters written by eminent scientists worldwide. CRISPR-Cas9 is a key technology for targeted genome editing and regulation in a number of organisms including mammalian cells. It is a rapid, simple, and cost-effective solution. CRISPR-Cas system has recently gained much scientific and public attention. This volume covers CRISPR-Cas9 based mammalian genome editing, creating disease models, cancer therapy, neurological, heredity, blood disorders, defective gene correction, stem cells therapy, epigenetic modifications, patents, ethics, biosafety and regulatory issues challenges and opportunities. This book is a key source of information on mammalian genome editing available in a single volume. This book will be useful for beginners in mammalian genome editing and also students, researchers, scientists, policymakers, clinicians and stakeholders interested in genome editing in several areas. Offers basic understanding and a clear picture of mammalian genome editing through CRISPR-Cas systems Discusses how to create mammalian disease models, stem cell modification, epigenetic modifications, correction of defective gene in blood disorders, heredity, neurological disorders and many more Discusses the application of CRISPR-Cas9 systems in basic sciences, biomedicine, molecular biology, translational sciences, neurobiology, neurology, cancer, stem cells, and many more

Molecular Biology of the Cell

Molecular Biology of the Cell Book
Author : Bruce Alberts
Publisher : Unknown
Release : 2004
ISBN : 9780815332183
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Download Molecular Biology of the Cell book written by Bruce Alberts, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Pathobiology of Human Disease

Pathobiology of Human Disease Book
Author : Anonim
Publisher : Elsevier
Release : 2014-08-01
ISBN : 0123864577
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Pathobiology of Human Disease bridges traditional morphologic and clinical pathology, molecular pathology, and the underlying basic science fields of cell biology, genetics, and molecular biology, which have opened up a new era of research in pathology and underlie the molecular basis of human disease. The work spans more than 48 different biological and medical fields, in five basic sections: Human Organ Systems Molecular Pathology/Basic Mechanisms of Diseases Animal Models/Other Model Systems Experimental Pathology Clinical Pathology Each article provides a comprehensive overview of the selected topic to inform a broad spectrum of readers from research professionals to advanced undergraduate students. Reviews quantitative advances in the imaging and molecular analysis of human tissue, new microarray technologies for analysis of genetic and chromosomal alterations in normal and diseased cells and tissues, and new transgenic models of human disease using conditional, tissue-specific gene targeting Articles link through to relevant virtual microscopy slides, illustrating side-by-side presentation of "Normal" and "Disease" anatomy and histology images Fully-annotated with many supplementary full color images, graphs, tables, and video files linked to data sets and to live references, enabling researchers to delve deeper and visualize solutions

Modern Surgical Care

Modern Surgical Care Book
Author : Thomas A. Miller
Publisher : CRC Press
Release : 2006-08-15
ISBN : 0824728696
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Completely updated with contributions by world leaders in surgery and the surgery specialties, this reference assists surgeons in the diagnosis and treatment of patients by considering disease as a derangement of normal physiology, thus allowing the surgeon to correlate the appropriate use of laboratory and radiologic modalities. Arranged according to specific organ systems, the book is easily accessible and reflects the impact that scientific discoveries and technical advances have had on our understanding of the physiologic processes in surgical patients.

Recent Advances in iPSC Disease Modeling Volume 1

Recent Advances in iPSC Disease Modeling  Volume 1 Book
Author : ALEXANDER BIRBRAIR
Publisher : Academic Press
Release : 2020-07-16
ISBN : 0128232692
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

Recent Advances in iPSC Disease Modeling, Volume 1 addresses how induced pluripotent stem cells can be used to model various diseases. Somatic cells are reprogrammed into induced pluripotent stem cells by the expression of specific transcription factors. These cells are transforming biomedical research in the last 15 years. This volume teaches readers about current advances in the field. This book describes the use of induced pluripotent stem cells to model several diseases in vitro, enabling us to study the cellular and molecular mechanisms involved in different pathologies. Further insights into these mechanisms will have important implications for our understanding of disease appearance, development, and progression. In recent years, remarkable progress has been made in the obtention of induced pluripotent stem cells and their differentiation into several cell types, tissues, and organs using state-of-art techniques. These advantages facilitated identification of key targets and definition of the molecular basis of several disorders. The volume is written for researchers and scientists in stem cell therapy, cell biology, regenerative medicine and organ transplantation; and is contributed by world-renowned authors in the field. Provides overview of the fast-moving field of induced pluripotent stem cell technology, regenerative medicine, and therapeutics Covers the following diseases: severe congenital neutropenia, sickle cell and Diamond-Blackfan anemias, muscular dystrophies, Bernard-Soulier syndrome, familial hypercholesterolemia type II A, Werner syndrome, lysosomal storage diseases, and more Contains description of cutting-edge research on the development of disease-specific human pluripotent stem cells. These cells allow us to study cellular and molecular processes involved in several human diseases

Stem Cell Innovation in Health Disease The Lung Volume 2

Stem Cell Innovation in Health   Disease  The Lung  Volume 2 Book
Author : Ahmed El-Hashash
Publisher : Academic Press
Release : 2021-06-10
ISBN : 0128212071
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

In the lung, more recent data have been accumulated on lung stem cell biology/function and the potential applications of stem cells in pulmonary diseases that are facilitated by the recent development of a broad range of cutting edge in vitro and in vivo research tools and approaches, including mouse and human organoid cultures, genetic editing in vitro and in vivo, human induced pluripotent cell (iPS cell) models of disease, haploid cells for genetic as well as compound screening paradigms, genetically engineered mice, and stem cell transplantation to cure diseases. Stem Cell Innovation in Health and Disease: Volume 2: The Lung, contains two major sections describing cutting edge research for understanding stem cell functions in the lung and respiratory system, and for developing methods to bring stem cells from bench to bedside; respectively. Each section includes insights ranging from using mouse and human organoid cultures, genetic editing in vitro and in vivo, and human induced pluripotent cells (iPSCs) to study stem cell functions and model lung diseases, through the cutting-edge research aiming to bring stem cells from bench to bedside, including the potential application of iPSCs, ESCs and blood stem cells (stem cell transplants) in the treatment of lung diseases/disorders. This book, therefore, discusses the fact-based promise of stem cells and regenerative medicine in the lung in the real world. Provides intensive scientific background and most recent information on cutting edge research to understand respiratory stem cell functions and develop methods to bring stem cells from bench to bedside for different lung diseases Analyzes the current state, opportunities, and challenges of innovative technologies and stem cells from bench to bed, including organoids and iPSC-derived alveolar epithelia cell therapy in the lung Contains two major sections describing cutting-edge research for understanding stem cell functions and for developing methods specific to the lung

Human Adult Stem Cells

Human Adult Stem Cells Book
Author : John Masters,Bernhard Ø Palsson
Publisher : Springer Science & Business Media
Release : 2009-05-30
ISBN : 9048122694
Language : En, Es, Fr & De

DOWNLOAD

Book Description :

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.