LEADER 04196nam 2200997z- 450 001 9910557392203321 005 20231214133526.0 035 $a(CKB)5400000000041976 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/69404 035 $a(EXLCZ)995400000000041976 100 $a20202105d2020 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aMolecular Basis and Gene Therapies of Cystic Fibrosis 210 $aBasel, Switzerland$cMDPI - Multidisciplinary Digital Publishing Institute$d2020 215 $a1 electronic resource (210 p.) 311 $a3-03943-683-X 311 $a3-03943-684-8 330 $aSummary 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. 606 $aMedicine$2bicssc 610 $acystic fibrosis 610 $aStaphylococcus aureus 610 $asuperantigen 610 $aenterotoxin gene cluster 610 $aMRSA 610 $aexosomes 610 $amicrovesicles 610 $alung 610 $aprimary cells 610 $anewborn screening 610 $atrypsinogen 610 $aCFTR gene 610 $anext generation sequencing 610 $ahealth policy 610 $arAAV2/HBoV1 610 $abaculovirus 610 $ainsect cells 610 $alung microbiome 610 $ametagenomics 610 $agut?lung axis 610 $aCystic fibrosis 610 $aCFTR 610 $atranscriptomics 610 $aproteostasis 610 $asmall molecules 610 $adrug development 610 $acommon and new pathogenic variants 610 $aethnic Russian population 610 $agene therapy 610 $acyclophosphamide 610 $atransient immunosuppression 610 $aincidence 610 $asurvival 610 $agenotype-phenotype correlations 610 $ahealth policies 610 $aCFTR modulators 610 $ahuman nasal epithelial cells 610 $aorganoids 610 $abiomarker 610 $afunctional assay 610 $apre-clinical in vitro models 610 $aCFTR-related disorders 610 $amolecular diagnosis 610 $aCFTR variants 610 $aNext Generation Sequencing (NGS) 610 $adisease liability 610 $ainterpretation 610 $apenetrance 610 $agenotype-guided therapy 610 $amiRNA 610 $aairway basal cell 610 $alentivirus 615 7$aMedicine 700 $aEngelhardt$b John$4edt$01278956 702 $aFerec$b Claude$4edt 702 $aYan$b Ziying$4edt 702 $aEngelhardt$b John$4oth 702 $aFerec$b Claude$4oth 702 $aYan$b Ziying$4oth 906 $aBOOK 912 $a9910557392203321 996 $aMolecular Basis and Gene Therapies of Cystic Fibrosis$93014287 997 $aUNINA