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| exon skipping therapy for duchenne muscular dystrophy: Duchenne Muscular Dystrophy Camilla Bernardini, 2017-10-25 This volume explores experimental approaches used to study Duchenne muscular dystrophy (DMD), an X-linked degenerative skeletal muscle disease caused by mutations in the dystrophin gene. Including the latest progress and scientific achievements, the book covers recent discoveries achieved through in vivo gene editing which have proven to be promising in restoring dystrophin expression, at least in ameliorating skeletal muscle symptoms, and the contents focus on “Omics” techniques in gene expression, protein expression, miRNAs, and long non-coding RNA analysis, as well as experimental studies of the structural/functional changes affecting the skeletal and cardiac muscles and ongoing preclinical studies and clinical trials. Written in the highly successful Methods in Molecular Biology series format, 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, Duchenne Muscular Dystrophy: Methods and Protocols serves as a guide for researchers exploring the complicated nature of dystrophin in the hope of helping the victims of this disorder. |
| exon skipping therapy for duchenne muscular dystrophy: Muscle Gene Therapy Dongsheng Duan, 2009-11-26 Muscle disease represents an important health threat to the general population. There is essentially no cure. Gene therapy holds great promise to correct the genetic defects and eventually achieve full recovery in these diseases. Significant progresses have been made in the field of muscle gene therapy over the last few years. The development of novel gene delivery vectors has substantially enhanced specificity and efficiency of muscle gene delivery. The new knowledge on the immune response to viral vectors has added new insight in overcoming the immune obstacles. Most importantly, the field has finally moved from small experimental animal models to human patients. This book will bring together the leaders in the field of muscle gene transfer to provide an updated overview on the progress of muscle gene therapy. It will also highlight important clinical applications of muscle gene therapy. |
| exon skipping therapy for duchenne muscular dystrophy: Nonsense Mutation Correction in Human Diseases Fabrice Lejeune, Hana Benhabiles, Jieshuang Jia, 2016-02-26 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 |
| exon skipping therapy for duchenne muscular dystrophy: Neuromuscular Disorders of Infancy, Childhood, and Adolescence Basil T. Darras, H. Royden Jones Jr., Monique M. Ryan, Darryl C. De Vivo, 2014-12-03 Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. - Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. - Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. - Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry |
| exon skipping therapy for duchenne muscular dystrophy: Exon Skipping and Inclusion Therapies Toshifumi Yokota, Rika Maruyama, 2018-09-01 This book presents a comprehensive collection of detailed state-of-the-art exon skipping and splices modulation protocols. Chapters detail 14 genetic diseases, AON-mediated therapies, and CRISPR/Cas9-mediated gene editing therapies. Written in the highly successful Methods in Molecular Biology series format, 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 cutting-edge, Exon Skipping and Inclusion Therapies: Methods and Protocols aims to help researchers initiate the development of next-generation therapies. |
| exon skipping therapy for duchenne muscular dystrophy: Genome Editing in Neurosciences Rudolf Jaenisch, Feng Zhang, Fred Gage, 2020-10-08 Innovations in molecular biology are allowing neuroscientists to study the brain with unprecedented resolution, from the level of single molecules to integrated gene circuits. Chief among these innovations is the CRISPR-Cas genome editing technology, which has the precision and scalability to tackle the complexity of the brain. This Colloque Médecine et Recherche has brought together experts from around the world that are applying genome editing to address important challenges in neuroscience, including basic biology in model organisms that has the power to reveal systems-level insight into how the nervous system develops and functions as well as research focused on understanding and treating human neurological disorders. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors. |
| exon skipping therapy for duchenne muscular dystrophy: Duchenne Muscular Dystrophy Jeffrey S. Chamberlain, Thomas A. Rando, 2006-02-27 Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease i |
| exon skipping therapy for duchenne muscular dystrophy: Neuromuscular Disorders: Management and Treatment E-Book Tulio E. Bertorini, 2010-09-08 Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text. |
| exon skipping therapy for duchenne muscular dystrophy: Disorders of Voluntary Muscle George Karpati, David Hilton-Jones, Robert C. Griggs, 2001-07-12 Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle. |
| exon skipping therapy for duchenne muscular dystrophy: Curing Genetic Diseases through Genome Reprogramming , 2021-06-24 Curing Genetic Diseases through Genome Reprogramming, Volume 182 captures an historic moment in the field of gene therapy—the dawn of a new age in which the dream of curing genetic diseases has become realizable. The volume presents the most clinically advanced gene therapy and genome editing approaches for the treatment of genetic diseases in specific organs, including difficult therapeutic targets, futuristic ideas of genetic interventions, and large scale human genome repair. An initial chapter addresses the complex ethical aspects involved in the very idea of modifying the human genome. - Provides a comprehensive view of gene therapy and genome editing technologies, including epigenetic editing - Describes the state-of-the-art and future directions for the treatment of genetic diseases, also considering economical aspects - Presents chapters that each give a thorough review of a specific disease, target organ or visionary approach, including ethical considerations |
| exon skipping therapy for duchenne muscular dystrophy: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Roger N. Rosenberg, Juan M. Pascual, 2014-10-28 Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations |
| exon skipping therapy for duchenne muscular dystrophy: Protein Simulations Valerie Daggett, 2003-11-26 Protein Simulation focuses on predicting how protein will act in vivo. These studies use computer analysis, computer modeling, and statistical probability to predict protein function.* Force Fields* Ligand Binding* Protein Membrane Simulation* Enzyme Dynamics* Protein Folding and unfolding simulations |
| exon skipping therapy for duchenne muscular dystrophy: Duchenne Muscular Dystrophy Alan E. H. Emery, Francesco Muntoni, Rosaline C. M. Quinlivan, 2015-02-19 Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy. |
| exon skipping therapy for duchenne muscular dystrophy: Rewriting Nature Paul Enríquez, 2021-06-24 Rewriting Nature is a cogent, riveting interdisciplinary exploration of the law, science, and policy of emerging genome-editing technology. |
| exon skipping therapy for duchenne muscular dystrophy: The Human Genome Julia E. Richards, R. Scott Hawley, 2010-12-12 Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, Third Edition will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome, Second Edition includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information. - Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students - Full, 4-color illustration program enhances and reinforces key concepts and themes - Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers |
| exon skipping therapy for duchenne muscular dystrophy: Molecular Biology of RNA David Elliott, Michael Ladomery, 2017-01-31 RNA plays a central, and until recently, somewhat underestimated role in the genetics underlying all forms of life on earth. This versatile molecule not only plays a crucial part in the synthesis of proteins from a DNA template, but is also intrinsically involved in the regulation of gene expression, and can even act as a catalyst in the form of a ribozyme. This latter property has led to the hypothesis that RNA - rather than DNA - could have played an essential part in the origin of life itself. This landmark text provides a systematic overview of the exciting and rapidly moving field of RNA biology. Key pioneering experiments, which provided the underlying evidence for what we now know, are described throughout, while the relevance of the subject to human disease is highlighted via frequent boxes. For the second edition of Molecular Biology of RNA, more introductory material has been incorporated at the beginning of the text, to aid students studying the subject for the first time. Throughout the text, new material has been included - particularly in relation to RNA binding domains, non-coding RNAs, and the connection between RNA biology and epigenetics. Finally, a new closing chapter discusses how exciting new technologies are being used to explore current topical areas of research. |
| exon skipping therapy for duchenne muscular dystrophy: Translating Regenerative Medicine to the Clinic Jeffrey Laurence, Pedro Baptista, Anthony Atala, 2015-11-18 Translating Regenerative Medicine to the Clinic reviews the current methodological tools and experimental approaches used by leading translational researchers, discussing the uses of regenerative medicine for different disease treatment areas, including cardiovascular disease, muscle regeneration, and regeneration of the bone and skin. Pedagogically, the book concentrates on the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field. It promotes cross-disciplinary communication between the sub-specialties of medicine, but remains unified in theme by emphasizing recent innovations, critical barriers to progress, the new tools that are being used to overcome them, and specific areas of research that require additional study to advance the field as a whole. Volumes in the series include Translating Gene Therapy to the Clinic, Translating Regenerative Medicine to the Clinic, Translating MicroRNAs to the Clinic, Translating Biomarkers to the Clinic, and Translating Epigenetics to the Clinic. - Encompasses the latest innovations and tools being used to develop regenerative medicine in the lab and clinic - Covers the latest knowledge, laboratory techniques, and experimental approaches used by translational research leaders in this field - Contains extensive pedagogical updates aiming to improve the education of translational researchers in this field - Provides a transdisciplinary approach that supports cross-fertilization between different sub-specialties of medicine |
| exon skipping therapy for duchenne muscular dystrophy: Recent Advances in Nutrigenetics and Nutrigenomics C Bouchard, J. M. Ordovas, 2012-06-19 Recent Advances in Nutrigenetics and Nutrigenomics. |
| exon skipping therapy for duchenne muscular dystrophy: Antisense RNA Design, Delivery, and Analysis Virginia Arechavala-Gomeza, Alejandro Garanto, 2022-02-26 This open access volume gathers a variety of models, delivery systems, and approaches that can be used to assess RNA technology for exploiting antisense as a therapeutic intervention. Beginning with a section on the design of antisense technology and their delivery, the book continues by covering model systems developed to evaluate efficacy, both in vivo and in vitro, as well as methods to evaluate preclinically the toxicity associated with these new potential drugs, and intellectual property considerations. 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, Antisense RNA Design, Delivery, and Analysis provides basic knowledge and a large collection of methods to facilitate the work of newcomers to this vibrant and expanding field. This book was conceived thanks to the network DARTER (Delivery of Antisense RNA Therapeutics). DARTER is funded by the EU Cooperation of Science and Technology (COST), which aims to enhance interaction and collaborations between researchers in Europe and other countries. |
| exon skipping therapy for duchenne muscular dystrophy: Reprogramming the Genome: CRISPR-Cas-based Human Disease Therapy Vijai Singh, 2021-06-15 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 |
| exon skipping therapy for duchenne muscular dystrophy: RNA Splicing and Backsplicing: Disease and Therapy Rosanna Asselta, Stefano Duga, Emanuele Buratti, Eladio Andrés Velasco, 2020-12-24 This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact. |
| exon skipping therapy for duchenne muscular dystrophy: Pediatric Neuropsychiatry C. Edward Coffey, Roger A. Brumback, 2006 Pediatric Neuropsychiatry provides the most updated and clinically relevant information on psychiatric disorders in children and adolescents with disturbances of brain function. Bridging the fields of psychiatry and neurology, this landmark work emphasizes the link between developmental brain biology and behavior. Major sections focus on neuropsychiatric aspects of specific psychiatric and neurologic disorders, highlighting the influence of the developing nervous system on these disorders' pathophysiology, manifestations, clinical course, treatment, and prognosis. Other sections discuss all contemporary diagnostic and therapeutic modalities. Chapters include case histories, algorithms, tables, and appendices that explain the rudiments of testing. |
| exon skipping therapy for duchenne muscular dystrophy: Principles of Cloning Jose Cibelli, Ian Wilmut, Rudolf Jaenisch, John Gurdon, Robert Lanza, Michael West, Keith H.S. Campbell, 2013-09-24 Principles of Cloning, Second Edition is the fully revised edition of the authoritative book on the science of cloning. The book presents the basic biological mechanisms of how cloning works and progresses to discuss current and potential applications in basic biology, agriculture, biotechnology, and medicine. Beginning with the history and theory behind cloning, the book goes on to examine methods of micromanipulation, nuclear transfer, genetic modification, and pregnancy and neonatal care of cloned animals. The cloning of various species—including mice, sheep, cattle, and non-mammals—is considered as well. The Editors have been involved in a number of breakthroughs using cloning technique, including the first demonstration that cloning works in differentiated cells done by the Recipient of the 2012 Nobel Prize for Physiology or Medicine – Dr John Gurdon; the cloning of the first mammal from a somatic cell – Drs Keith Campbell and Ian Wilmut; the demonstration that cloning can reset the biological clock - Drs Michael West and Robert Lanza; the demonstration that a terminally differentiated cell can give rise to a whole new individual – Dr Rudolf Jaenisch and the cloning of the first transgenic bovine from a differentiated cell – Dr Jose Cibelli. The majority of the contributing authors are the principal investigators on each of the animal species cloned to date and are expertly qualified to present the state-of-the-art information in their respective areas. - First and most comprehensive book on animal cloning, 100% revised - Describes an in-depth analysis of current limitations of the technology and research areas to explore - Offers cloning applications on basic biology, agriculture, biotechnology, and medicine |
| exon skipping therapy for duchenne muscular dystrophy: Gene Correction Francesca Storici, 2016-09-03 Gene correction is a technology that gives us the tools for both repairing and mutating DNA, for discovering gene functions and for engineering new genetic variants. Gene Correction: Methods and Protocols provides a user friendly, detailed and up-to-date collection of strategies and methodologies utilized for generating specific sequence changes in the DNA of cells in the laboratory, while also tackling the major problems that the field of gene correction faces. This volume brings together many experts in the field of gene correction to disclose a wide and varied array of specific gene correction protocols for engineering mutations in DNA, for delivering correcting DNA to target cells, and for improving the accuracy and safety of the gene correction process. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and easily accessible, Gene Correction: Methods and Protocols seeks to serve scientists of all backgrounds interested in the area of gene targeting/recombination/therapy. |
| exon skipping therapy for duchenne muscular dystrophy: Muscle Biopsy Victor Dubowitz, 1985 |
| exon skipping therapy for duchenne muscular dystrophy: A Guide to Duchenne Muscular Dystrophy Janet Hoskin, 2017-12-14 The prognosis for individuals with Duchenne Muscular Dystrophy (DMD) is improving, with some men with DMD living into their 30s and 40s. More vital than ever, this book helps teachers and parents to support children and young people with DMD with their education and transition into adulthood. Leading experts on DMD explain Duchenne and its impact in easy-to-understand terms. Going beyond physical management, particular focus is put on learning and behavioural issues, including speech delay and difficulty learning to read, as well as common comorbid conditions, such as ADHD, autism and OCD. Raising aspirations, the book gives guidance on effective support in the classroom and advice on the transition to adulthood, employment and independent living. |
| exon skipping therapy for duchenne muscular dystrophy: Muscular Dystrophy National Institute of Neurological Diseases and Stroke, 1971 |
| exon skipping therapy for duchenne muscular dystrophy: Animal Models in Medicine and Biology Eva Tvrdá, Sarat Chandra Yenisetti, 2020-04-08 Thanks to animal models, our knowledge of biology and medicine has increased enormously over the past decades, leading to significant breakthroughs that have had a direct impact on the prevention, management and treatment of a wide array of diseases.This book presents a comprehensive reference that reflects the latest scientific research being done in a variety of medical and biological fields utilizing animal models. Chapters on Drosophila, rat, pig, rabbit, and other animal models reflect frontier research in neurology, psychiatry, cardiology, musculoskeletal disorders, reproduction, chronic diseases, epidemiology, and pain and inflammation management. Animal Models in Medicine and Biology offers scientists, clinicians, researchers and students invaluable insights into a wide range of issues at the forefront of medical and biological progress. |
| exon skipping therapy for duchenne muscular dystrophy: Muscular Dystrophy Corrado Angelini, 2013 Muscular dystrophies include a heterogeneous series of diseases that range from childhood to adult onset cases, of difficult diagnosis and treatment. This book presents the state of the art in muscular dystrophies, after the molecular revolution. |
| exon skipping therapy for duchenne muscular dystrophy: NORD Guide to Rare Disorders National Organization for Rare Disorders, 2003 NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly. |
| exon skipping therapy for duchenne muscular dystrophy: Pulmonary Function Testing in Children: Techniques and Standards George Polgar, Promadhat Varuni, 1971 |
| exon skipping therapy for duchenne muscular dystrophy: Cardiomyopathy Gustav Mattsson, Peter Magnusson, 2021 Cardiomyopathies are diseases of the heart muscle with diverse etiologies ranging from myocarditis to gene mutations. They are classified according to morphology and function, and then further categorized based on whether they are familial or non-familial and based on specific etiologies. This book examines the various cardiomyopathies, including arrhythmogenic cardiomyopathy, hypertrophic cardiomyopathy, and dilated cardiomyopathy, as well as their genetic basis. |
| exon skipping therapy for duchenne muscular dystrophy: Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function William Duddy, Stephanie Duguez, 2021 This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine. |
| exon skipping therapy for duchenne muscular dystrophy: Frontiers in Human Genetics Eric Yap, 2001 With the completion of human genome sequencing, human genetics is poised for major developments in functional genomics, molecular diagnostics, pathogenesis of complex multifactorial diseases and gene-based therapy. This book was conceived from an international symposium on human genetics and gene therapy that was held in Singapore in 1999. It includes manuscripts of the work presented as well as articles written by a selection of young researchers in the Asia Pacific region who are actively involved in a diverse range of medical problems, including cancer, infections, hypertension and myopia. New technologies being developed in gene therapy, lab-on-chips and bioinformatics are reported. The book provides a snapshot of the diverse approaches and solutions being developed at the frontiers of human genetics. It will be useful to researchers and students in molecular genetics and the life sciences, professionals in the biotechnology and pharmaceutical industries, clinicians who are interested in molecular medicine, etc. |
| exon skipping therapy for duchenne muscular dystrophy: Brain and Heart Dynamics Stefano Govoni, Pierluigi Politi, Emilio Vanoli, 2020-07-31 This ambitious and comprehensive handbook represents an essential contribution to our current understanding of interactions between heart and brain, a research topic generating growing interest. Despite the increasing awareness that neural mechanisms are the primary cause of cardiac disease and its progression, therapy continues to focus on end-organ protection and does not approach the neural core of the problem. Growing public health problems such as heart failure are still treated with autonomic drugs that are 30-40 years old and simply act on cardiac receptors. However, it has now been shown that the progression of ischemic heart disease to heart failure is mainly due to abnormal central responses to incipient cardiac disease, with neural activation the primary cause rather than the consequence of cardiac remodeling. Written by leading international experts in their respective research areas, the book presents a variety of perspectives on the core topic: from social and philosophical to gender-related aspects. It is designed for a broad readership and includes dedicated sections for cardiologists, psychiatrists, neurologists and psychotherapists looking for a more insightful and targeted approach to neuro-cardiovascular disease. |
| exon skipping therapy for duchenne muscular dystrophy: Dystrophin Susan C. Brown, Jack A. Lucy, 1997-05-13 The absence of dystrophin is the underlying cause of Duchenne muscular dystrophy. This is the first book to address the structure, function, and distribution of dystrophin and its associated proteins in muscle and brain, rather than concentratiing primarily on the disease. It covers an exciting and rapidly expanding field that promises to have important and widespread implications for many aspects of cell biology. |
| exon skipping therapy for duchenne muscular dystrophy: Antisense Drug Technology Stanley T. Crooke, 2007-07-25 Extensively revised and updated, Antisense Drug Technology: Principles, Strategies, and Applications, Second Edition reflects the logarithmic progress made in the past four years of oligonucleotide-based therapies, and, in particular, antisense therapeutics and research. Interpreting lessons learned from the clinical trials of first generati |
| exon skipping therapy for duchenne muscular dystrophy: Cardiac Diseases David C. Gaze, Aleksandar Kibel, 2021-07-28 This is the latest book in a series of cardiovascular-related texts from IntechOpen Publishing. The present volume considers general aspects of cardiac disease and is divided into three distinct sections covering cardiac risk, cardiorenal pathology, and novel interventional surgical techniques. The chapters offer insight into the current state of the art with respect to the risks of developing cardiovascular diseases, maintenance of patent vascular access in patients with the cardiorenal syndrome, and a plethora of novel interventional technologies all aimed at salvaging damaged tissue and improving prognosis and reducing mortality. This volume of 18 chapters is intended for general medical and biomedical students at both undergraduate and postgraduate level. It also offers insightful updates on recent advances in the understanding of the pathophysiology of cardiac diseases and the new techniques added to the medical armamentarium to improve the outcomes and prevent mortality and would be of interest to those working in academia and healthcare science. |
| exon skipping therapy for duchenne muscular dystrophy: Plastic and Reconstructive Surgery Maria Z. Siemionow, 2015-01-12 There is a paradigm shift in plastic and reconstructive surgery from the interest of developing new surgical techniques into the application of new technologies via research based studies on stem cells, tissue engineering and new field of reconstructive transplantation such as e.g. face, hand or larynx transplants. This approach is relatively novel and introduced to plastic surgery within past decade. Thus there is an urgent need to facilitate access to this new knowledge which was not traditionally a part of plastic surgery curriculum. The most efficient way of introducing these new approaches is via presentation of pertinent to different fields (stem cell, transplantation, nerve regeneration, tissue engineering) experimental models which can be used as a tool to develop technologies of interest by different groups of surgeons. These surgical specialities which will be interested and benefit from the book include: plastic and reconstructive surgeons, microsurgeons, hand surgeons, orthopaedic surgeons, neurosurgeons and transplant surgeons. |
| exon skipping therapy for duchenne muscular dystrophy: Gene Therapy in Neurological Disorders Mingjie Li, B. Joy Snider, 2018-05-25 Gene therapy has tremendous potential for the treatment of neurological disorders. There has been substantial progress in the development of gene therapy strategies for neurological disorders over the last two decades. Gene Therapy in Neurological Disorders thoroughly reviews currently available gene therapy tools and presents examples of their application in a variety of neurological diseases. The book begins with general reviews of gene therapy strategies with a focus on neurological disorders. The remainder of the chapters present approaches to specific neurological disorders. Each chapter gives an in-depth introduction to the relevant field before diving into the specific tool or application. The book aims to help investigators, students and research staff better understand the principles of gene therapy and its application in the nervous system. - Provides background information and experimental details of gene therapy tools applied for neuroscience research and neurological disorders - Covers a broad range of gene delivery and regulation tools, therapeutic agents, and target cells, including emerging new technologies such as CRISPR/Cas9 genome editing - Discusses applications of gene therapy tools to neurological disorders including neurodegeneration, muscular dystrophy, trauma and chronic pain, and neoplastic diseases |
能否简单易懂的介绍外显子（exon），内含 …
外显子(Exon)：DNA链或前体mRNA上能够编码蛋白质的核苷酸片段. 由DNA转录后先形成前体mRNA(pre-mRNA),这些未成熟的mRNA需要经过一定的加工，如剪接，去除内含子5'端加一 …
lncRNA中的外显子序列为什么不翻译？成熟的mRNA链均是外显子 …
至于lncRNA的exon是根据大家默认的剪切位点来预测的，因为我们认为lncRNA也是完整的基因元件，也存在splice junction，所以按照mRNA的那一套来预测lncRNA的exon，但不代表这 …
怎么从EXON id 知道是第几个外显子？ - 知乎
最左侧上面exon选项，搜索就能够看到ENSE00003793906属于Transcript: SCN1A-212 ENST00000636194.1转录本的28号外显子。 发布于 2017-10-26 12:59 赞同 添加评论
检测到BRAF基因第15外显子点突变代表啥？ - 知乎
知乎，中文互联网高质量的问答社区和创作者聚集的原创内容平台，于 2011 年 1 月正式上线，以「让人们更好的分享知识、经验和见解，找到自己的解答」为品牌使命。知乎凭借认真、专业 …
能否简单易懂的介绍外显子（exon），内含 …
外显子(Exon)：DNA链或前体mRNA上能够编码蛋白质的核苷酸片段. 由DNA转录后先形成前体mRNA(pre-mRNA),这些未成熟的mRNA需要经过一定的加工，如剪接，去除内含子5'端加一 …
lncRNA中的外显子序列为什么不翻译？成熟的mRNA链均是外显子 …
至于lncRNA的exon是根据大家默认的剪切位点来预测的，因为我们认为lncRNA也是完整的基因元件，也存在splice junction，所以按照mRNA的那一套来预测lncRNA的exon，但不代表这 …
怎么从EXON id 知道是第几个外显子？ - 知乎
最左侧上面exon选项，搜索就能够看到ENSE00003793906属于Transcript: SCN1A-212 ENST00000636194.1转录本的28号外显子。 发布于 2017-10-26 12:59 赞同 添加评论
检测到BRAF基因第15外显子点突变代表啥？ - 知乎
知乎，中文互联网高质量的问答社区和创作者聚集的原创内容平台，于 2011 年 1 月正式上线，以「让人们更好的分享知识、经验和见解，找到自己的解答」为品牌使命。知乎凭借认真、专业 …
