Results 51 to 60 of about 11,543 (240)

Effect of CFTR Modulators on Oxidative Stress and Autophagy in Non-CFTR-Expressing Cells. [PDF]

Int J Mol Sci
The 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, Cernera G, Polise L, Castaldo G, Amato F, Villella VR.   +5 more
europepmc   +4 more sources

The ABCC6 transporter : what lessons can be learnt from other ATP-binding cassette transporters? [PDF]

, 2013
ABC transporters represent a large family of ATP-driven transmembrane transporters involved in uni- or bidirectional transfer of a large variety of substrates.
De Paepe, Anne, Hosen, Mohammad Jakir, Vanakker, Olivier   +2 more
core   +2 more sources

Antisense oligonucleotide targeting the E3 ligase RFFL potentiates CFTR modulator efficacy in CF primary bronchial epithelial cells

Molecular Therapy: Nucleic Acids
Cystic fibrosis (CF) is most commonly caused by the ΔF508 mutation in the CFTR gene, leading to misfolding and degradation of the CFTR protein. Although CFTR modulators such as elexacaftor/tezacaftor/ivacaftor (ETI) provide clinical benefit, their ...
Daichi Hinata, Yukari Kai, Ryosuke Fukuda, Yuka Kamada, Yuuya Kasahara, Kiyomi Sasaki, Tokuyuki Yoshida, Satoshi Obika, Takao Inoue, Tsukasa Okiyoneda   +9 more
doaj   +1 more source

Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators

Scientific Reports, 2017
Clinical studies with modulators of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein have demonstrated that functional restoration of the mutated CFTR can lead to substantial clinical benefit.
Iwona M. Pranke, Aurélie Hatton, Juliette Simonin, Jean Philippe Jais, Françoise Le Pimpec-Barthes, Ania Carsin, Pierre Bonnette, Michael Fayon, Nathalie Stremler-Le Bel, Dominique Grenet, Matthieu Thumerel, Julie Mazenq, Valerie Urbach, Myriam Mesbahi, Emanuelle Girodon-Boulandet, Alexandre Hinzpeter, Aleksander Edelman, Isabelle Sermet-Gaudelus   +17 more
doaj   +1 more source

CGM patterns in adults with cystic fibrosis-related diabetes before and after elexacaftor-tezacaftor-ivacaftor therapy

Journal of Clinical & Translational Endocrinology, 2022
Cystic fibrosis-related diabetes (CFRD) is a common complication of cystic fibrosis that is associated with worse outcomes and higher mortality rates.
Hanna Crow, Charles Bengtson, Xiaosong Shi, Leland Graves, III, Abeer Anabtawi   +4 more
doaj   +1 more source

Newborn screening for cystic fibrosis [PDF]

, 2016
Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was first recognised, the performance of newborn blood spot screening (NBS) has been continually assessed and its use
Castellani, C, Massie, J, Sontag, M, Southern, KW   +3 more
core   +1 more source

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.
Miquéias Lopes-Pacheco
doaj   +1 more source

The extracellular calcium-sensing receptor regulates human fetal lung development via CFTR [PDF]

, 2016
Optimal fetal lung growth requires anion-driven fluid secretion into the lumen of the developing organ. The fetus is hypercalcemic compared to the mother and here we show that in the developing human lung this hypercalcaemia acts on the extracellular ...
Brennan, Sarah C., Dibble, Holly, Finney, Brenda, Galietta, Luis J., Kemp, Paul J., Monk, Bethan, Quilliam, Samantha, Riccardi, Daniela, Tseng, Hsiu-Er, Warburton, David, Wilkinson, William J.   +10 more
core   +2 more sources

Role of the SLC26A9 chloride channel as disease modifier and potential therapeutic target in cystic fibrosis [PDF]

, 2018
The solute carrier family 26, member 9 (SLC26A9) is an epithelial chloride channel that is expressed in several organs affected in patients with cystic fibrosis (CF) including the lungs, the pancreas, and the intestine. Emerging evidence suggests SLC26A9
Balázs, Anita, Mall, Marcus A.
core   +1 more source

Non‐pulmonary CFTR‐related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis

Respirology Case Reports, 2023
Diagnosis and management of CRMS/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators.
Stephanie L. Kuek, R. John H. Massie
doaj   +1 more source