Frontiers in Pharmacology, 2021 Objectives: Cystic fibrosis transmembrane conductance regulator (CFTR) modulators, Kalydeco® (ivacaftor), Orkambi® (lumacaftor/ivacaftor) and Symkevi® (tezacaftor/ivacaftor), have substantially improved patients’ lives yet significantly burden healthcare
Khadidja Abdallah +3 more
doaj +1 more source
European Respiratory Society International Congress best abstract preview from the allied respiratory professionals from assembly 9 [PDF]
, 2018 The 28th European Respiratory Society (ERS) International Congress [2018] in Paris features interesting research findings within the allied respiratory professional assembly (assembly 9).
Blonshine, Jason +3 more
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Assembly and functional analysis of an S/MAR based episome with the cystic fibrosis transmembrane conductance regulator gene [PDF]
, 2018 Improving the efficacy of gene therapy vectors is still an important goal toward the development of safe and efficient gene therapy treatments. S/MAR (scaffold/matrix attached region)-based vectors are maintained extra-chromosomally in numerous cell ...
Ascenzioni, Fiorentina +10 more
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Cutaneous Adverse Effects of Elexacaftor-Tezacaftor-Ivacaftor: A Single Center Cohort Study on Acne Severity in Adults With Cystic Fibrosis. [PDF]
J Cosmet DermatolJournal of Cosmetic Dermatology, Volume 24, Issue 11, November 2025.
Smith AD +5 more
europepmc +2 more sources
A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11. [PDF]
, 2017 The ATP-sensitive potassium channel (KATP) functions as a metabo-electric transducer in regulating insulin secretion from pancreatic β-cells. The pancreatic KATP channel is composed of a pore-forming inwardly-rectifying potassium channel, Kir6.2, and a ...
Ferrara, Christine +5 more
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Different CFTR modulator combinations downregulate inflammation differently in cystic fibrosis
eLife, 2020 Previously, we showed that serum and monocytes from patients with CF exhibit an enhanced NLRP3-inflammasome signature with increased IL-18, IL-1β, caspase-1 activity and ASC speck release (Scambler et al. eLife 2019).
Heledd H Jarosz-Griffiths +13 more
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In Silico Screening of Novel TMPRSS2 Inhibitors for Treatment of COVID-19
Molecules, 2022 COVID-19, a pandemic caused by the virus SARS-CoV-2, has spread globally, necessitating the search for antiviral compounds. Transmembrane protease serine 2 (TMPRSS2) is a cell surface protease that plays an essential role in SARS-CoV-2 infection ...
Shuo Wang, Xuexun Fang, Ye Wang
doaj +1 more source
Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]
, 2019 This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A. +6 more
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New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]
, 2017 Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
core +1 more source
Nationwide lung function monitoring from infancy in newborn-screened children with cystic fibrosis
ERJ Open Research, 2023 Background Cystic fibrosis (CF) lung disease starts in infancy and can be assessed for structural lung abnormalities using computed tomography or magnetic resonance scans, or for lung function impairment using multiple breath washout (MBW).
Rikke M. Sandvik +12 more
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