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Molecular Basis and Gene Therapies of Cystic Fibrosis
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...
Chronic Pancreatitis
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.
Molecular Basis and Gene Therapies of Cystic Fibrosis
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 Pancreas
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...
Genetic Disorders of the Exocrine Pancreas
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.
APPROCHE MOLECULAIRE DU GENE DE LA MUCOVISCIDOSE
LE GENE DE LA MUCOVISCIDOSE A ETE LOCALISE SUR LE CHROMOSOME 7 EN 7Q2.2-7Q3.1, EN 1985, PAR DES ETUDES DE LIAISON GENETIQUE REALISEES A L'AIDE DE MARQUEURS POLYMORPHES DE L'ADN. LES SITES POLYMORPHES, SITUES A PROXIMITE DU GENE (METH/TAQ1, METD/TAQ1, XV2C/TAQ1, PJ3.11/MSP1), NOUS ONT PERMIS DE CONSTRUIRE LES HAPLOTYPES DITS DE RESTRICTION, ASSOCIES AUX CHROMOSOMES PORTEURS DU GENE CF DANS UNE POPULATION DE PATIENTS DE MEME ORIGINE ETHNIQUE (LA POPULATION BRETONNE). LES DESEQUILIBRES DE LIAISON ENTRE CES DIFFERENTS MARQUEURS ET LE GENE ONT ETE CALCULES, DE MEME QUE LES DESEQUILIBRES DE LIAISON EXISTANTS ENTRE LES MARQUEURS EUX-MEMES. NOUS AVONS CALCULE LES PROBABILITES BAYESIENNES ASSOCIE&ES ...
