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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 co...
This book is a concise guide to the clinical diagnosis and management of chronic pancreatitis, presenting the latest research into the disease. It focuses on pathogenesis, epidemiology, genetics, diagnosis, endoscopic and surgical treatment, and prognosis. It also offers comprehensive descriptions of 4 diagnostic methods and discusses the contemporary management of chronic pancreatitis, including conservative, ESWL, interventional and surgical treatments. The final chapter includes 6 typical case presentations, which taken together provide a standard description of this condition.
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 th...
The third edition of the Handbook of Proteolytic Enzymes is a comprehensive reference work for the enzymes that cleave proteins and peptides, written by acknowledged experts in the field and containing over 850 chapters. Each chapter is organized into sections describing the name and history, activity and specificity, structural chemistry, preparation, biological aspects, and distinguishing features for a specific peptidase. There are also introductory chapters on peptidase classification and mechanisms and a comprehensive index. For the first time, the Handbook is also available online via Elsevier's ScienceDirect platform as well as a three-volume book. The online version has enhanced opti...
This publication summarizes important new scientific information and provides guidelines for genetic testing for hereditary pancreatitis as well as guidelines for the prevention, screening, and treatment of pancreatic cancer in hereditary pancreatitis. It also includes chapters on neonatal screening for cystic fibrosis, gene mutations in idiopathic pancreatitis, and clinical phenotypes of Shwachman-Diamond Syndrome. This book is required reading for all individuals with an interest in pancreatic disease.
A practical overview of a full rangeof approaches to discovering, selecting, and producing biotechnology-derived drugs The Handbook of Pharmaceutical Biotechnology helps pharmaceutical scientists develop biotech drugs through a comprehensive framework that spans the process from discovery, development, and manufacturing through validation and registration. With chapters written by leading practitioners in their specialty areas, this reference: Provides an overview of biotechnology used in the drug development process Covers extensive applications, plus regulations and validation methods Features fifty chapters covering all the major approaches to the challenge of identifying, producing, and formulating new biologically derived therapeutics With its unparalleled breadth of topics and approaches, this handbook is a core reference for pharmaceutical scientists, including development researchers, toxicologists, biochemists, molecular biologists, cell biologists, immunologists, and formulation chemists. It is also a great resource for quality assurance/assessment/control managers, biotechnology technicians, and others in the biotech industry.
The encyclopedic guide to the pancreas for practicing clinicians and surgeons In the past decade extraordinary developments in diagnostic and therapeutic radiology and endoscopy have been coupled with major advances in surgical techniques and basic sciences. As a result the management of pancreatic disorders is now handled by a multidisciplinary team. This book shows you how to achieve superior patient management by taking the team approach to in-hospital care. Fully revised and updated, this new edition of The Pancreas: An Integrated Textbook of Basic Science, Medicine and Surgery details the latest knowledge on genetics and molecular biological background in terms of anatomy, physiology, p...