Results 21 to 30 of about 71,270 (242)
Pancreatitis in A Patient with Cystic Fibrosis Taking Ivacaftor
Children, 2020 Pancreatitis is rare in pancreatic insufficient cystic fibrosis patients. While pancreatic insufficiency has been considered irreversible until now, in the current era of new therapies with modulators of the Cystic Fibrosis Transmembrane Regulator CFTR ...
Argyri Petrocheilou +2 more
doaj +1 more source
Medicine Science, 2021 Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common monogenic disease.
Ayberk Turkyilmaz, Oguzhan Yarali
doaj +1 more source
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
Stimulation of salivary secretion in vivo by CFTR potentiators in Cftr+/+ and Cftr−/− mice [PDF]
Journal of Cystic Fibrosis, 2008 Physiologically, salivary secretion is controlled by cholinergic and adrenergic pathways but the role of ionic channels in this process is not yet clearly understood. In cystic fibrosis (CF), most exocrine glands failed to response to beta-adrenergic agonists.To determine the implication of CFTR in this process, we measured in vivo the salivary ...
Noel, S +7 more
openaire +3 more sources
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
Physiological parameters of Brazilian silverside, Atherinella brasiliensis, embryos exposed to different salinities [PDF]
Neotropical IchthyologyInformation regarding organism changes due to the variation of abiotic factors such as salinity are essential in both ecotoxicological and environmental monitoring studies. For this reason, the Brazilian silverside (Atherinella brasiliensis) embryos were
Carolina Brioschi Delpupo +5 more
doaj +1 more source
RNA binding proteins PTBP1 and HNRNPL regulate CFTR mRNA decay
Heliyon, 2023 Background: CFTR nonsense alleles generate negligible CFTR protein due to the nonsense mutation: 1) triggering CFTR mRNA degradation by nonsense-mediated mRNA decay (NMD), and 2) terminating CFTR mRNA translation prematurely.
Amna Siddiqui +5 more
doaj +1 more source
Development of CFTR structure [PDF]
Frontiers in Pharmacology, 2012 Cystic fibrosis is a lethal genetic disease caused by lack of functional cystic fibrosis transmembrane conductance regulator (CFTR) proteins at the apical surface of secretory epithelia. CFTR is a multidomain protein, containing five domains, and its functional structure is attained in a hierarchical folding process.
Patrick, Anna E., Thomas, Philip J.
openaire +3 more sources
Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]
, 2014 Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R +39 more
core +4 more sources