Results 11 to 20 of about 11,406 (228)
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
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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
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
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Review of CFTR modulators 2020 [PDF]
Pediatric Pulmonology, 2021 AbstractCystic fibrosis transmembrane conductance regulator (CFTR) modulators are small molecules that directly impact the CFTR protein, improving the function of the CFTR chloride and bicarbonate channel. Beginning in 2012 with the Food and Drug Administration approval of the first CFTR modulator, ivacaftor, this class of medications has had largely ...
Danielle M. Goetz, Adrienne P. Savant
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Therapeutic Approaches for Patients with Cystic Fibrosis Not Eligible for Current CFTR Modulators
Cells, 2021 Cystic fibrosis is a severe autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene encoding the CFTR protein, a chloride channel expressed in many epithelial cells.
Isabelle Fajac, Isabelle Sermet
doaj +1 more source
CFTR Modulator Therapy for Rare CFTR Mutants
Journal of Respiration, 2022 Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR), a chloride epithelial channel whose dysfunction results in severe airway obstruction and inflammation, eventually leading to respiratory failure.
Marco Mergiotti +3 more
openaire +2 more sources
Cells, 2023 People with cystic fibrosis (pwCF) suffer from chronic and recurring bacterial lung infections that begin very early in life and contribute to progressive lung failure.
Deborah M. Cholon +11 more
doaj +1 more source
Pharmacological Responses of the G542X-CFTR to CFTR Modulators
Frontiers in Molecular Biosciences, 2022 Cystic fibrosis (CF) is a lethal hereditary disease caused by loss-of-function mutations of the chloride channel cystic fibrosis transmembrane conductance regulator (CFTR). With the development of small-molecule CFTR modulators, including correctors that facilitate protein folding and expression and potentiators that promote channel activity, about 90%
Xinxiu Fang +3 more
openaire +3 more sources
Mutual Effects of Single and Combined CFTR Modulators and Bacterial Infection in Cystic Fibrosis
Microbiology Spectrum, 2023 Cystic fibrosis transmembrane conductance regulator (CFTR) modulators improve clinical outcomes with varied efficacies in patients with CF. However, the mutual effects of CFTR modulators and bacterial adaptation, together with antibiotic regimens, can ...
Cristina Cigana +9 more
doaj +1 more source
Scientific Reports, 2023 Macrophage dysfunction has been well-described in Cystic Fibrosis (CF) and may contribute to bacterial persistence in the lung. Whether CF macrophage dysfunction is related directly to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in ...
Daniel S. Aridgides +6 more
doaj +1 more source