Results 51 to 60 of about 1,208,918 (256)
Targeted therapies to improve CFTR function in cystic fibrosis [PDF]
, 2015 Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry. The genetic basis of cystic fibrosis is well established to be mutations in the cystic fibrosis transmembrane conductance regulator ...
Brodlie, M +3 more
core +2 more sources
International Journal of Molecular Sciences, 2023 S737F is a Cystic Fibrosis (CF) transmembrane conductance regulator (CFTR) missense variant. The aim of our study was to describe the clinical features of a cohort of individuals carrying this variant.
V. Terlizzi +11 more
semanticscholar +1 more source
The gut-lung axis in the CFTR modulator era
Frontiers in Cellular and Infection Microbiology, 2023 The advent of CFTR modulators represents a turning point in the history of cystic fibrosis (CF) management, changing profoundly the disease’s clinical course by improving mucosal hydration.
Florian Lussac-Sorton +22 more
doaj +1 more source
Peroxisome Proliferator-Activated Receptor alpha (PPAR alpha) down-regulation in cystic fibrosis lymphocytes [PDF]
, 2006 Background: PPARs exhibit anti-inflammatory capacities and are potential modulators of the inflammatory response. We hypothesized that their expression and/or function may be altered in cystic fibrosis (CF), a disorder characterized by an excessive host ...
A Augarten +53 more
core +4 more sources
From CFTR biology toward combinatorial pharmacotherapy:expanded classification of cystic fibrosis mutations [PDF]
, 2016 More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes.
Avramescu, Radu G. +17 more
core +3 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
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 +6 more
doaj +1 more source
CFTR Modulators: Current Status and Evolving Knowledge
Seminars in Respiratory and Critical Care Medicine, 2022 In the past decade, the medical management of people with cystic fibrosis (pwCF) has changed with the development of small molecules that partially restore the function of the defective CF transmembrane conductance regulator (CFTR) protein and are called
L. Regard +3 more
semanticscholar +1 more source
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 +15 more
doaj +1 more source
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 +2 more
core +2 more sources