Results 61 to 70 of about 7,856 (243)

The era of CFTR modulators: improvements made and remaining challenges [PDF]

, 2020
The entry into the clinic of CFTR modulators such as TRIKAFTA has significantly improved life for ∼90% CF patients carrying one or two F508del mutations but challenges remain for rare CFTR mutations and the management of lung infections @SaraOcana1 https:
Laselva, Onofrio, Nenna, Raffaella, Avolio, Julie, Cuevas-Ocaña, Sara   +3 more
core   +1 more source

Mitochondrial Fragmentation Induced by the CFTR Modulators Lumacaftor and Ivacaftor in Immortalized Cystic Fibrosis Cell Lines. [PDF]

Cells
Cystic 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.
Dib C, González PAI, Aguilar MLÁ, Taminelli GL, Limpias Del Valle T, Nuñez NE, Karadayian AG, Santa-Coloma TA, Valdivieso ÁG.   +8 more
europepmc   +2 more sources

Impact of CFTR Modulators on Beta-Cell Function in Children and Young Adults with Cystic Fibrosis

Journal of Clinical Medicine, 2022
Background: To date, no consistent data are available on the possible impact of CFTR modulators on glucose metabolism. The aim of this study was to test the hypothesis that treatment with CFTR modulators is associated with an improvement in the key ...
Claudia Piona, E. Mozzillo, A. Tosco, S. Volpi, F. Rosanio, C. Cimbalo, A. Franzese, V. Raia, C. Zusi, Federica Emiliani, M. Boselli, M. Trombetta, R. Bonadonna, M. Cipolli, C. Maffeis   +14 more
semanticscholar   +1 more source

Telehealth and CFTR modulators: Accelerating innovative models of cystic fibrosis care.

Journal of Cystic Fibrosis, 2022
Better health and longer survival for many people with cystic fibrosis (PwCF) compels the continued evolution of the CF care model. Designed to deliver specialized care for a complex chronic condition, the model is organized around interdisciplinary ...
Michelle H. Prickett, P. Flume, K. Sabadosa, Q. Tran, B. Marshall   +4 more
semanticscholar   +1 more source

Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R

Frontiers in Pharmacology, 2020
Understanding the functional consequence of rare cystic fibrosis (CF) mutations is mandatory for the adoption of precision therapeutic approaches for CF. Here we studied the effect of the very rare CF mutation, W361R, on CFTR processing and function.
Arnaud Billet, Ahmad Elbahnsi, Mathilde Jollivet-Souchet, Brice Hoffmann, Jean-Paul Mornon, Isabelle Callebaut, Frédéric Becq   +6 more
doaj   +1 more source

New drugs, new challenges in cystic fibrosis care

European Respiratory Review
Cystic fibrosis (CF) is a genetic disease caused by variants in the gene encoding for the CF transmembrane conductance regulator (CFTR) protein, a chloride and bicarbonate channel.
Isabelle Fajac, Pierre-Régis Burgel, Clémence Martin   +2 more
doaj   +1 more source

Global disparities in cystic fibrosis outcomes prior to CFTR modulators: A CF registries cohort study in South Africa and Canada.

Journal of Cystic Fibrosis, 2023
BACKGROUND Outcomes of cystic fibrosis (CF) differ between low-middle income and high-income countries, but comparative data are lacking. We compared South African (SA) and Canadian CF outcomes to explore what disparities existed prior to access of CFTR ...
M. Zampoli, Jenna Sykes, J. Verstraete, Stephanie Y. Cheng, B. Morrow, Michael S. Pepper, C. Stewart, H. Zar, Anne L. Stephenson   +8 more
semanticscholar   +1 more source

Ligand-based virtual-screening identified a novel CFTR ligand which improves the defective cell surface expression of misfolded ABC transporters

Frontiers in Pharmacology
Cystic fibrosis (CF) is a monogenetic disease caused by the mutation of CFTR, a cAMP-regulated Cl− channel expressing at the apical plasma membrane (PM) of epithelia.
Shogo Taniguchi, Francois Berenger, Yukako Doi, Ayana Mimura, Yoshihiro Yamanishi, Tsukasa Okiyoneda   +5 more
doaj   +1 more source

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

The Journal of Clinical Investigation, 2022
The vast majority of people with cystic fibrosis (CF) are now eligible for CF transmembrane regulator (CFTR) modulator therapy. The remaining individuals with CF harbor premature termination codons (PTCs) or rare CFTR variants with limited treatment ...
Rhianna E. Lee, Catherine A. Lewis, Lihua He, Emily C. Bulik-Sullivan, Samuel C. Gallant, Teresa M. Mascenik, Hong Dang, Deborah M. Cholon, Martina Gentzsch, Lisa C. Morton, John T. Minges, Jonathan W. Theile, Neil A. Castle, Michael R. Knowles, Adam J. Kimple, Scott H. Randell   +15 more
doaj   +1 more source

Experience to date with CFTR modulators during pregnancy and breastfeeding in the British Columbia Cystic Fibrosis clinic

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, Bradley S. Quon, Pearce G. Wilcox   +2 more
doaj   +1 more source