Molecular Basis and Gene Therapies of Cystic Fibrosis

• Other Authors: Engelhardt, John (Editor), Ferec, Claude (Editor), Yan, Ziying (Editor)
• Format: Electronic Book Chapter
• Language: English
• Published: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2020
• Subjects: Medicine; 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
• Online Access: DOAB: download the publication; DOAB: description of the publication

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...