Download or read book Molecular Basis and Gene Therapies of Cystic Fibrosis written by John Engelhardt and published by MDPI. This book was released on 2020-12-11 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.
Download or read book Molecular Basis and Gene Therapies of Cystic Fibrosis written by John Engelhardt and published by . This book was released on 2020 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: Of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.
Download or read book Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease written by Venkataramana K Sidhaye and published by Academic Press. This book was released on 2017-03-09 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lung Epithelial Biology in the Pathogenesis of Pulmonary Disease provides a one-stop resource capturing developments in lung epithelial biology related to basic physiology, pathophysiology, and links to human disease. The book provides access to knowledge of molecular and cellular aspects of lung homeostasis and repair, including the molecular basis of lung epithelial intercellular communication and lung epithelial channels and transporters. Also included is coverage of lung epithelial biology as it relates to fluid balance, basic ion/fluid molecular processes, and human disease. Useful to physician and clinical scientists, the contents of this book compile the important and most current findings about the role of epithelial cells in lung disease. Medical and graduate students, postdoctoral and clinical fellows, as well as clinicians interested in the mechanistic basis for lung disease will benefit from the books examination of principles of lung epithelium functions in physiological condition. Provides a single source of information on lung epithelial junctions and transporters Discusses of the role of the epithelium in lung homeostasis and disease Includes capsule summaries of main conclusions as well as highlights of future directions in the field Covers the mechanistic basis for lung disease for a range of audiences
Download or read book CFTR and Cystic Fibrosis written by Carlos M. Farinha and published by Springer. This book was released on 2017-10-01 with total page 70 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Brief is devoted to the CFTR protein and cystic fibrosis, and it provides an updated perspective of the genetic, functional and cellular processes involved in this conformational disorder. Starting with a historical perspective on cystic fibrosis and its clinical features, the author departs into an in-depth description of the biology of the CFTR protein, ending with a discussion on the latest approaches aimed at developing corrective therapies for cystic fibrosis. First the basic aspects of cystic fibrosis as a disorder are addressed, focusing on genetics and mutation prevalence. Then the CFTR protein is discussed in detail: its structure and classification within the ABC transporter superfamily, its biogenesis with membrane insertion and chaperone assisted folding, its glycosylation and how it regulates the endoplasmatic reticulum quality control mechanisms that assess CFTR folding status. Extra attention is given to post-ER trafficking and regulation of membrane stability and anchoring, and to CFTR functions. This is linked to the molecular mechanisms through which different CFTR mutations cause cystic fibrosis. Finally, the different efforts aiming at rescuing the basic defect, most of which aim at repairing CFTR dysfunction, are covered. Through this integrated perspective, readers will obtain a unique insight into this fascinating membrane-bound protein and its associated disease. This Brief appeals to an audience interested in human genetics, protein folding, protein trafficking and physiology.
Download or read book Treatment of Cystic Fibrosis and Other Rare Lung Diseases written by Arata Azuma and published by Springer. This book was released on 2017-01-28 with total page 266 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume describes the pathogenesis and pathophysiology of several pulmonary diseases as well as their treatment. It also discusses the underlying genetic and molecular biological basis, which opens the way for new treatments for these conditions. It focuses on the treatment of cystic fibrosis including CFTR (cystic fibrosis transmembrane-conductance regulator) modulator therapies, drug therapies that augment airway surface liquid as well as anti-inflammatory and anti-infective therapies. Further topics include long-term, low-dose macrolide therapy for diffuse panbronchiolitis; novel agents for previously untreatable idiopathic pulmonary fibrosis; possible new treatments for pulmonary alveolar proteinosis (PAP); and multiple novel therapeutic targets for treating lymphangiomyomatosis. Research into these conditions has led to major advances in our understanding of the underlying genetic and molecular basis of this disease, and to dramatic improvements in survival and quality of life for affected individuals.
Download or read book Cystic Fibrosis Methods and Protocols written by William R. Skach and published by Springer Science & Business Media. This book was released on 2008-02-02 with total page 626 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the cloning of the cystic fibrosis transmembrane conductance re- lator (CFTR) nearly a decade ago, cystic fibrosis (CF) research has witnessed a dramatic expansion into new scientific areas. Basic researchers, clinicians, and patients increasingly rely on fundamental techniques of genetics, molecular biology, electrophysiology, biochemistry, cell biology, microbiology, and immunology to understand the molecular basis of this complex disease. Research into the pathophysiology of CF has established numerous paradigms of ion channel dysfunction that extend from inflammation and infection in the airways of patients to basic mechanisms of protein processing and regulation in intracellular components. With these rapid advances has come an increasing need for research scientists to understand and utilize a growing array of basic laboratory tools. This volume of Methods in Molecular Medicine, Cystic Fibrosis Methods and Protocols satisfies that need by providing detailed protocols for the laboratory techniques used throughout CF research. From electrophysiology and cell biology, to animal models and gene therapy, the comprehensive set of methods covered here provide step-by-step instructions needed for investigators to incorporate new approaches into their research programs. Contributions have been chosen to reflect the rich diversity of techniques and to provide a cohesive framework for understanding challenges that are currently at the forefront of CF research. It is hoped that this volume will serve as a valuable reference that will not only foster interdisciplinary investigations into current problems encountered in CF, but also facilitate the translation of new scientific discoveries into clinical solutions.
Download or read book Cystic Fibrosis in the 21st Century written by Andrew Bush and published by Karger Medical and Scientific Publishers. This book was released on 2006 with total page 341 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an up-date of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.
Download or read book Cftr and the Molecular Basis of Cystic Fibrosis written by J. Wine and published by R. G. Landes. This book was released on 1931-12-12 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cystic Fibrosis written by Prashant Mohite and published by BoD – Books on Demand. This book was released on 2021-06-09 with total page 126 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2019-09-04 with total page 594 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. Offers pathways for diagnosis, prevention and disease management Includes color images supporting identification, concept illustration and method processing Features contributions by leading international researchers and practitioners of medical genetics
Download or read book Somatic Gene Therapy written by P.L. Chang and published by CRC Press. This book was released on 2018-01-17 with total page 242 pages. Available in PDF, EPUB and Kindle. Book excerpt: As human gene therapy becomes a clinical reality, a new era in medicine dawns. Novel and innovative developments in molecular genetics now provide opportunities to treat the genetic bases of diseases often untreatable before. Somatic Gene Therapy documents these historical clinical trials, reviews current advances in the field, evaluates the use of the many different cell types and organs amenable to gene transfer, and examines the prospects of various exciting strategies for gene therapy.
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.
Download or read book Cystic Fibrosis written by John R. Riordan and published by Cold Spring Harbor Perspective. This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "A subject collection from Cold Spring Harbor perspectives in medicine."
Download or read book The Lung written by Jerome S. Brody and published by Saunders. This book was released on 1998 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly reference provides a basic understanding of the molecular biology underlying pulmonary diseases. Presents the background information necessary to understand the impact that molecular biology has on pulmonary medicine. Chapters begin with a list of basic concepts and a summary of the state-of-the-art information for each disease, starting with a clinical-molecular point of view and concluding with an annotated bibliography. Features excellent color illustrations and a thorough appendix!
Download or read book From Gene to Therapy written by Michael Dean and published by Biota Publishing. This book was released on 2017-09-13 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lecture provides an overview of the progress made in molecular medicine applying genetics and genomics to the understanding, diagnosis, and treatment of human diseases. Specifically, the methods for identifying genes involved in human diseases are described. Examples from 10 genes and diseases will be provided, drawing on the author's research. Topics include examples from simple Mendelian diseases, such as cystic fibrosis, inherited cancers, oncogenes activated by chromosomal translocations, host genes involved in infectious disease, genes identified via genomewide association studies, pathogens causing cancer, and gene families contributing to multiple diseases. For each example, historical details will be provided as background for readers to understand the context and process of the discoveries, technologies explained, and current understanding and treatment implications detailed.
Download or read book Gene and Cell Therapy written by Nancy Smyth Templeton and published by CRC Press. This book was released on 2008-10-06 with total page 1154 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since the publication of the second edition of this book in 2004, gene therapy and cell therapy clinical trials have yielded some remarkable successes and some disappointing failures. Now in its third edition, Gene and Cell Therapy: Therapeutic Mechanisms and Strategies assembles many of the new technical advances in gene delivery, clinical applications, and new approaches to the regulation and modification of gene expression. New Topics Covered in this Edition: Gene and Cell Therapies for Diabetes and Cardiovascular Diseases Clinical Trials Human Embryonic Stem Cells Tissue Engineering Combined with Cell Therapies Novel Polymers Relevant Nanotechnologies SiRNA Therapeutic Strategies Dendrimer Technologies Comprised of contributions from international experts, this book begins with a discussion of delivery systems and therapeutic strategies, exploring retroviral vectors and adenovirus vectors, as well as other therapeutic strategies. The middle section focuses on gene expression and detection, followed by an examination of various therapeutic strategies for individual diseases, including hematopoietic disorders, cardiovascular conditions, cancer, diabetes, cystic fibrosis, neurological disorders, and childhood-onset blindness. The final section discusses recent clinical trials and regulatory issues surrounding the new technology. This compendium is assembled by noted molecular biologist and biochemist Nancy Smyth Templeton. Baylor College of Medicine and several other institutions have used Dr. Templeton’s non-viral therapeutics in clinical trials for the treatment of lung, breast, head and neck, and pancreatic cancers, as well as Hepatitis B and C. She continues to work at the forefront of research in gene and cell therapies. Her contributions, as well as those contained in this volume, are sure to advance the state of the art of these revolutionary life-saving technologies.
