Results 21 to 30 of about 5,785 (196)

Lived experiences of individuals with cystic fibrosis on CFTR-modulators

BMC Pulmonary Medicine, 2022
Background CFTR-modulators are a category of drugs that facilitate trafficking and opening of the abnormal CFTR protein in individuals with cystic fibrosis (CF) who have certain genetic mutations.
Annelise Page, Aaron Goldenberg, Anne L. Matthews   +2 more
doaj   +1 more source

S945L-CFTR molecular dynamics, functional characterization and tezacaftor/ivacaftor efficacy in vivo and in vitro in matched pediatric patient-derived cell models

Frontiers in Pediatrics, 2022
Cystic Fibrosis (CF) results from over 400 different disease-causing mutations in the CF Transmembrane Conductance Regulator (CFTR) gene. These CFTR mutations lead to numerous defects in CFTR protein function.
Katelin M. Allan, Katelin M. Allan, Miro A. Astore, Laura K. Fawcett, Laura K. Fawcett, Laura K. Fawcett, Sharon L. Wong, Sharon L. Wong, Po-Chia Chen, Renate Griffith, Adam Jaffe, Adam Jaffe, Adam Jaffe, Serdar Kuyucak, Shafagh A. Waters, Shafagh A. Waters, Shafagh A. Waters, Shafagh A. Waters   +17 more
doaj   +1 more source

CFTR Modulator Therapy for Rare CFTR Mutants

Journal of Respiration, 2022
Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR), a chloride epithelial channel whose dysfunction results in severe airway obstruction and inflammation, eventually leading to respiratory failure.
Marco Mergiotti, Alessandra Murabito, Giulia Prono, Alessandra Ghigo   +3 more
openaire   +2 more sources

The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis

Orphanet Journal of Rare Diseases, 2022
Background Over the past decade, a new class of drugs called CFTR (cystic fibrosis transmembrane conductance regulator) modulators have shown to be able to improve clinical outcomes in patient with Cystic Fibrosis.
Enrico Costa, Silvia Girotti, Francesca Pauro, Hubert G. M. Leufkens, Marco Cipolli   +4 more
doaj   +1 more source

Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids

ERJ Open Research, 2022
Introduction Cystic fibrosis (CF) is a severe monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Marjolein M. Ensinck, Liesbeth De Keersmaecker, Anabela S. Ramalho, Senne Cuyx, Stephanie Van Biervliet, Lieven Dupont, Frauke Christ, Zeger Debyser, François Vermeulen, Marianne S. Carlon   +9 more
doaj   +1 more source

Cognitive Outcome After Deep Brain Stimulation for Refractory Obsessive–Compulsive Disorder: A Systematic Review

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Introduction Deep brain stimulation (DBS) is an effective treatment for refractory obsessive–compulsive disorder (OCD). Neuropsychological assessment contributes to DBS treatment in several ways: it monitors the cognitive safety of the treatment, identifies beneficial or detrimental cognitive side effects and it could aid to explain ...
Tim A. M. Bouwens van der Vlis, Annelien Duits, Mégan M. G. H. van de Veerdonk, Anne E. P. Mulders, Koen R. J. Schruers, Yasin Temel, Linda Ackermans, Albert F. G. Leentjens   +7 more
wiley   +1 more source

Of muscle modulation and the CFTR gate [PDF]

Journal of General Physiology, 2015
This month’s installment of Generally Physiological considers regulation of excitation–contraction coupling by PIP2 and the investigation of an appealing hypothesis for how a transporter might evolve into a channel.
openaire   +2 more sources

Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators. [PDF]

PLoS ONE, 2016
W1282X is a common nonsense mutation among cystic fibrosis patients that results in the production of a truncated Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) channel. Here we show that the channel activity of the W1282X-CFTR polypeptide is
Wei Wang, Jeong S Hong, Andras Rab, Eric J Sorscher, Kevin L Kirk   +4 more
doaj   +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, Florian Lussac-Sorton, Éléna Charpentier, Éléna Charpentier, Sébastien Imbert, Sébastien Imbert, Sébastien Imbert, Maxime Lefranc, Stéphanie Bui, Stéphanie Bui, Stéphanie Bui, Michael Fayon, Michael Fayon, Michael Fayon, Patrick Berger, Patrick Berger, Patrick Berger, Raphaël Enaud, Raphaël Enaud, Raphaël Enaud, Laurence Delhaes, Laurence Delhaes, Laurence Delhaes   +22 more
doaj   +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