Nonsense Mutation Correction in Human Diseases

Nonsense Mutation Correction in Human Diseases
Author: Fabrice Lejeune,Hana Benhabiles,Jieshuang Jia
Publsiher: Academic Press
Total Pages: 190
Release: 2016-02-26
ISBN 10: 0128044691
ISBN 13: 9780128044698
Language: EN, FR, DE, ES & NL

Nonsense Mutation Correction in Human Diseases Book Review:

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
Author: Dennis Wat
Publsiher: BoD – Books on Demand
Total Pages: 392
Release: 2015-08-24
ISBN 10: 9535121529
ISBN 13: 9789535121527
Language: EN, FR, DE, ES & NL

Cystic Fibrosis in the Light of New Research Book Review:

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
Author: Anonim
Publsiher: Elsevier
Total Pages: 480
Release: 2018-01-09
ISBN 10: 0444640770
ISBN 13: 9780444640772
Language: EN, FR, DE, ES & NL

Neurogenetics Book Review:

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
Author: David N. Cooper,Michael Krawczak
Publsiher: Taylor & Francis
Total Pages: 412
Release: 1995
ISBN 10: 9781859960554
ISBN 13: 1859960553
Language: EN, FR, DE, ES & NL

Human Gene Mutation Book Review:

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.

Alternative Splicing and Disease

Alternative Splicing and Disease
Author: Philippe Jeanteur
Publsiher: Springer Science & Business Media
Total Pages: 257
Release: 2006-10-04
ISBN 10: 3540344497
ISBN 13: 9783540344490
Language: EN, FR, DE, ES & NL

Alternative Splicing and Disease Book Review:

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
Author: Lynne E. Maquat,Megerditch Kiledjian
Publsiher: Academic Press
Total Pages: 464
Release: 2011-09-02
ISBN 10: 9780080923321
ISBN 13: 0080923321
Language: EN, FR, DE, ES & NL

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

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
Author: Lawrence Wright
Publsiher: Knopf
Total Pages: 336
Release: 2021
ISBN 10: 0593320727
ISBN 13: 9780593320723
Language: EN, FR, DE, ES & NL

The Plague Year Book Review:

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.

Vogel and Motulsky s Human Genetics

Vogel and Motulsky s Human Genetics
Author: Michael Speicher,Stylianos E. Antonarakis,Arno G. Motulsky
Publsiher: Springer Science & Business Media
Total Pages: 981
Release: 2009-11-26
ISBN 10: 3540376542
ISBN 13: 9783540376545
Language: EN, FR, DE, ES & NL

Vogel and Motulsky s Human Genetics Book Review:

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
Author: Jahangir Moini,Nicholas Avgeropoulos,Mohtashem Samsam
Publsiher: Academic Press
Total Pages: 552
Release: 2021-04-16
ISBN 10: 0128217553
ISBN 13: 9780128217559
Language: EN, FR, DE, ES & NL

Epidemiology of Brain and Spinal Tumors Book Review:

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

Emerging Therapeutic Approaches for Cystic Fibrosis

Emerging Therapeutic Approaches for Cystic Fibrosis
Author: Miquéias Lopes-Pacheco,Nicoletta Pedemonte,Anthony Kicic
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2020-01-27
ISBN 10: 2889633675
ISBN 13: 9782889633678
Language: EN, FR, DE, ES & NL

Emerging Therapeutic Approaches for Cystic Fibrosis Book Review:

Molecular Biology of the Cell

Molecular Biology of the Cell
Author: Bruce Alberts
Publsiher: Unknown
Total Pages: 135
Release: 2004
ISBN 10: 9780815332183
ISBN 13: 0815332181
Language: EN, FR, DE, ES & NL

Molecular Biology of the Cell Book Review:

Health Risks from Exposure to Low Levels of Ionizing Radiation

Health Risks from Exposure to Low Levels of Ionizing Radiation
Author: Committee to Assess Health Risks from Exposure to Low Levels of Ionizing Radiation,National Research Council
Publsiher: National Academies Press
Total Pages: 389
Release: 2006-03-23
ISBN 10: 0309133343
ISBN 13: 9780309133340
Language: EN, FR, DE, ES & NL

Health Risks from Exposure to Low Levels of Ionizing Radiation Book Review:

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.

Cystic Fibrosis

Cystic Fibrosis
Author: Prashant Mohite,Anna Reed,André Simon
Publsiher: BoD – Books on Demand
Total Pages: 124
Release: 2021-06-09
ISBN 10: 1838810730
ISBN 13: 9781838810733
Language: EN, FR, DE, ES & NL

Cystic Fibrosis Book Review:

Cystic fibrosis, a genetic disorder in children and young adults, is a multisystemic disease that mainly affects the lungs. Advances and improvements in the diagnosis and management of this condition have led to increased overall and symptom-free survival in cystic fibrosis patients. This book examines recent advances in the field and presents an evidence-based approach to the management of cystic fibrosis.

Prenatal Gene Therapy

Prenatal Gene Therapy
Author: Charles Coutelle,Simon N. Waddington
Publsiher: Humana Press
Total Pages: 392
Release: 2012-06-07
ISBN 10: 9781617798726
ISBN 13: 161779872X
Language: EN, FR, DE, ES & NL

Prenatal Gene Therapy Book Review:

The emerging field of prenatal gene therapy is founded on scientific and technical advances in fetal medicine, molecular biology and gene therapy. This preclinical research subject aims at applying gene therapy during pregnancy for the prevention of human diseases caused by early onset congenital or gestation related conditions. In Prenatal Gene Therapy: Concepts, Methods and Protocols, expert researchers in the field detail many of the protocols which are now commonly used to study gene therapy, fetal medicine and medical ethics. These include detailed protocols for vector production, for breeding and husbandry of the animal models, for the surgical procedures of gene delivery in large and small animals and for the methods of gene transfer analysis. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and key tips on troubleshooting and avoiding known pitfalls. Thorough and intuitive, Prenatal Gene Therapy: Concepts, Methods and Protocols seeks to aid scientists in the further study of prenatal disease and gene therapy projects beyond the scope of fetal medicine.

Kendig and Chernick s Disorders of the Respiratory Tract in Children E Book

Kendig and Chernick s Disorders of the Respiratory Tract in Children E Book
Author: Robert W. Wilmott,Thomas F. Boat,Andrew Bush,Victor Chernick,Robin R Deterding,Felix Ratjen
Publsiher: Elsevier Health Sciences
Total Pages: 1168
Release: 2012-02-25
ISBN 10: 1455740500
ISBN 13: 9781455740505
Language: EN, FR, DE, ES & NL

Kendig and Chernick s Disorders of the Respiratory Tract in Children E Book Book Review:

Kendig, Chernick’s Disorders of the Respiratory Tract in Children is the definitive medical reference book to help you confront critical challenges using the latest knowledge and techniques. You’ll get the state-of-the-art answers you need to offer the best care to young patients. Tackle the toughest challenges and improve patient outcomes with coverage of all the common and rare respiratory problems found in newborns and children worldwide. Get a solid foundation of knowledge to better understand and treat your patients through coverage of the latest basic science and its relevance to clinical problems. Get comprehensive, authoritative coverage on today’s hot topics, such as interstitial lung disease, respiratory disorders in the newborn, congenital lung disease, swine flu, genetic testing for disease and the human genome, inflammatory cytokines in the lung, new radiologic techniques, diagnostic imaging of the respiratory tract, and pulmonary function tests. Learn from the experts with contributions from 100 world authorities in the fields of pediatrics, pulmonology, neurology, microbiology, cardiology, physiology, diagnostic imaging, anesthesiology, otolaryngology, allergy, and surgery.

G Protein Signaling Pathways in Health and Disease

G Protein Signaling Pathways in Health and Disease
Author: Anonim
Publsiher: Academic Press
Total Pages: 300
Release: 2019-02-15
ISBN 10: 0128167246
ISBN 13: 9780128167243
Language: EN, FR, DE, ES & NL

G Protein Signaling Pathways in Health and Disease Book Review:

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

Disorders of Voluntary Muscle

Disorders of Voluntary Muscle
Author: George Karpati,David Hilton-Jones,Robert C. Griggs
Publsiher: Cambridge University Press
Total Pages: 800
Release: 2001-07-12
ISBN 10: 9780521650625
ISBN 13: 0521650623
Language: EN, FR, DE, ES & NL

Disorders of Voluntary Muscle Book Review:

Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Human Adult Stem Cells

Human Adult Stem Cells
Author: John Masters,Bernhard Ø Palsson
Publsiher: Springer Science & Business Media
Total Pages: 208
Release: 2009-05-30
ISBN 10: 9048122694
ISBN 13: 9789048122691
Language: EN, FR, DE, ES & NL

Human Adult Stem Cells Book Review:

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.

Cardiac Gene Therapy

Cardiac Gene Therapy
Author: Kiyotake Ishikawa
Publsiher: Humana Press
Total Pages: 355
Release: 2016-12-02
ISBN 10: 9781493965861
ISBN 13: 1493965867
Language: EN, FR, DE, ES & NL

Cardiac Gene Therapy Book Review:

This detailed book provides methodological information on cardiac gene delivery, from classic to state-of-the-art technologies and techniques. Efficient, cardiac-specific, and safe vectors, as well as refined vector delivery methods, are key for successful cardiac gene transfer and eventually for improving patients’ outcomes. Newer vectors and more efficient vector delivery methods have the potential to dramatically improve gene transduction efficacy, while novel gene manipulation techniques enforce the therapeutic power and broaden disease targets. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Cardiac Gene Therapy: Methods and Protocols serves as a valuable tool for molecular biologists and physiologists in the cardiology field conducting cardiac gene transfer research, which will ultimately lead to further advancements in the vital field.

Stem Cells and Human Diseases

Stem Cells and Human Diseases
Author: Rakesh K. Srivastava,Sharmila Shankar
Publsiher: Springer Science & Business Media
Total Pages: 630
Release: 2012-01-31
ISBN 10: 9400728018
ISBN 13: 9789400728011
Language: EN, FR, DE, ES & NL

Stem Cells and Human Diseases Book Review:

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.