04196nam 2200997z- 450 991055739220332120231214133526.0(CKB)5400000000041976(oapen)https://directory.doabooks.org/handle/20.500.12854/69404(EXLCZ)99540000000004197620202105d2020 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierMolecular Basis and Gene Therapies of Cystic FibrosisBasel, SwitzerlandMDPI - Multidisciplinary Digital Publishing Institute20201 electronic resource (210 p.)3-03943-683-X 3-03943-684-8 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.Medicinebicssccystic fibrosisStaphylococcus aureussuperantigenenterotoxin gene clusterMRSAexosomesmicrovesicleslungprimary cellsnewborn screeningtrypsinogenCFTR genenext generation sequencinghealth policyrAAV2/HBoV1baculovirusinsect cellslung microbiomemetagenomicsgut–lung axisCystic fibrosisCFTRtranscriptomicsproteostasissmall moleculesdrug developmentcommon and new pathogenic variantsethnic Russian populationgene therapycyclophosphamidetransient immunosuppressionincidencesurvivalgenotype-phenotype correlationshealth policiesCFTR modulatorshuman nasal epithelial cellsorganoidsbiomarkerfunctional assaypre-clinical in vitro modelsCFTR-related disordersmolecular diagnosisCFTR variantsNext Generation Sequencing (NGS)disease liabilityinterpretationpenetrancegenotype-guided therapymiRNAairway basal celllentivirusMedicineEngelhardt Johnedt1278956Ferec ClaudeedtYan ZiyingedtEngelhardt JohnothFerec ClaudeothYan ZiyingothBOOK9910557392203321Molecular Basis and Gene Therapies of Cystic Fibrosis3014287UNINA