Respiratory Medicine Case Reports, 2022 The introduction and rapid uptake of CFTR modulator therapy, in addition to other treatments, has significantly increased life expectancy in CF and provided more women the opportunity to consider and successfully be managed throughout pregnancy. There is
Jodi Goodwin +2 more
doaj +2 more sources
Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids [PDF]
ERJ Open Research, 2022 Introduction Cystic fibrosis (CF) is a severe monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Marjolein M. Ensinck +9 more
doaj +2 more sources
Frontiers in Molecular Biosciences, 2023 Most of the 2,100 CFTR gene variants reported to date are still unknown in terms of their disease liability in Cystic Fibrosis (CF) and their molecular and cellular mechanism that leads to CFTR dysfunction.
Violeta Railean +7 more
doaj +3 more sources
Mitochondrial Fragmentation Induced by the CFTR Modulators Lumacaftor and Ivacaftor in Immortalized Cystic Fibrosis Cell Lines [PDF]
CellsCystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene, which encodes a cAMP-activated chloride channel essential for epithelial function.
Camila Dib +8 more
doaj +2 more sources
Epithelial responses to CFTR modulators are improved by inflammatory cytokines and impaired by antiinflammatory drugs [PDF]
JCI InsightCystic fibrosis (CF) is a genetic disorder that disrupts CF transmembrane conductance regulator (CFTR) anion channels and impairs airway host defenses. Airway inflammation is ubiquitous in CF, and suppressing it has generally been considered to improve ...
Tayyab Rehman +4 more
doaj +2 more sources
The impact of CFTR modulators on bone health [PDF]
Pediatric Pulmonology, 2023 We are hopeful that CTFR modulation does have a positive impact of bone health, but we have concerns about this study design being used to support the hypothesis.
Elizabeth Clarke +3 more
openalex +3 more sources
CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine
Frontiers in Pharmacology, 2020 Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR mRNA and protein expression, function, stability or a combination of these.
Miqueias Lopes-Pacheco
exaly +3 more sources
Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review [PDF]
Frontiers in EndocrinologyIntroductionCystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, leading to impaired chloride transport, thickened mucus, and multiorgan dysfunction. Among its complications, cystic fibrosis-related diabetes (CFRD)
Paola Giordano +6 more
doaj +2 more sources
Effect of CFTR Modulators on Oxidative Stress and Autophagy in Non-CFTR-Expressing Cells. [PDF]
Int J Mol SciThe triple combination therapy for cystic fibrosis (CF), including elexacaftor, tezacaftor and ivacaftor (ETI or Trikafta), has been shown to improve lung function and reduce pulmonary exacerbations, thereby enhancing the quality of life for most CF patients.
Scialò F +5 more
europepmc +6 more sources
CFTR modulators response of S737F and T465N CFTR variants on patient-derived rectal organoids [PDF]
Orphanet Journal of Rare DiseasesBackground Predictions based on patient-derived materials of CFTR modulators efficacy have been performed lately in patient-derived cells, extending FDA-approved drugs for CF patients harboring rare variants.
Karina Kleinfelder +6 more
doaj +2 more sources