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 an...
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Engelhardt, John edt Molecular Basis and Gene Therapies of Cystic Fibrosis Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020 1 electronic resource (210 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. English Medicine bicssc cystic fibrosis Staphylococcus aureus superantigen enterotoxin gene cluster MRSA exosomes microvesicles lung primary cells newborn screening trypsinogen CFTR gene next generation sequencing health policy rAAV2/HBoV1 baculovirus insect cells lung microbiome metagenomics gut–lung axis Cystic fibrosis CFTR transcriptomics proteostasis small molecules drug development common and new pathogenic variants ethnic Russian population gene therapy cyclophosphamide transient immunosuppression incidence survival genotype-phenotype correlations health policies CFTR modulators human nasal epithelial cells organoids biomarker functional assay pre-clinical in vitro models CFTR-related disorders molecular diagnosis CFTR variants Next Generation Sequencing (NGS) disease liability interpretation penetrance genotype-guided therapy miRNA airway basal cell lentivirus 3-03943-683-X 3-03943-684-8 Ferec, Claude edt Yan, Ziying edt Engelhardt, John oth Ferec, Claude oth Yan, Ziying oth |
language |
English |
format |
eBook |
author2 |
Ferec, Claude Yan, Ziying Engelhardt, John Ferec, Claude Yan, Ziying |
author_facet |
Ferec, Claude Yan, Ziying Engelhardt, John Ferec, Claude Yan, Ziying |
author2_variant |
j e je c f cf z y zy |
author2_role |
HerausgeberIn HerausgeberIn Sonstige Sonstige Sonstige |
title |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
spellingShingle |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
title_full |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
title_fullStr |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
title_full_unstemmed |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
title_auth |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
title_new |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
title_sort |
molecular basis and gene therapies of cystic fibrosis |
publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
publishDate |
2020 |
physical |
1 electronic resource (210 p.) |
isbn |
3-03943-683-X 3-03943-684-8 |
illustrated |
Not Illustrated |
work_keys_str_mv |
AT engelhardtjohn molecularbasisandgenetherapiesofcysticfibrosis AT ferecclaude molecularbasisandgenetherapiesofcysticfibrosis AT yanziying molecularbasisandgenetherapiesofcysticfibrosis |
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(CKB)5400000000041976 (oapen)https://directory.doabooks.org/handle/20.500.12854/69404 (EXLCZ)995400000000041976 |
carrierType_str_mv |
cr |
is_hierarchy_title |
Molecular Basis and Gene Therapies of Cystic Fibrosis |
author2_original_writing_str_mv |
noLinkedField noLinkedField noLinkedField noLinkedField noLinkedField |
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1796652245964554241 |
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