Results 51 to 60 of about 7,856 (243)

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

Prospectively evaluating maternal and fetal outcomes in the era of CFTR modulators: the MAYFLOWERS observational clinical trial study design

BMJ Open Respiratory Research, 2022
Introduction Therapeutic advances have markedly increased life expectancy for those with cystic fibrosis (CF), resulting in a median predicted survival over 50 years. Consequently, people with CF (pwCF) are living through their reproductive years and the
R. Jain, A. Magaret, Phuong T. Vu, J. Vandalfsen, A. Keller, A. Wilson, M. Putman, N. Mayer-Hamblett, C. Esther, J. Taylor-Cousar   +9 more
semanticscholar   +1 more source

Cystic Fibrosis – results of CFTR modulators in Croatia

, 2023
Cistična fibroza najčešća je nasljedna bolest, koja skraćuje životni vijek, a uzrokuje je defekt u genu za transmembranski regulator provodljivosti cistične fibroze (eng. cystic fibrosis transmembrane regulator – CFTR).
Todorić, Ivana, Bambir, Ivan, Markelić, Ivona, Kuhtić, Ivana, Bogdanić, Ana, Šmuljić, Zrinka, Jalušić Glunčić, Tatjana, Vuković Đurić, Katarina, Rako, Ivana, Kunović, Ana, Merčep, Iveta, Huljev Frković, Sanda, Tješić-Drinković, Dorian, Odobašić Palković, Tihana, Omerza, Lana, Basara, Latinka, Markušić, Jasna, Poje, Gorazd, Merkler, Ana, Firis, Nataša, Ladić, Agata, Pleško, Sanja, Bambiar, Ivan, Perić, Sanja, Lalić, Ivana, Levačić, Gorana, Bzik, Dolores, Janković Makek, Mateja, Baretić, Maja, Elveđi Gašparović, Vesna, Milinković, Tomislava, Džubur, Fedža, Pavić, Eva, Mihelčić, Petra, Vukić Dugac, Andrea, Krnić, Nevena, Tješić-Drinković, Duška   +36 more
core   +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

Current state of CFTR modulators for treatment of Cystic Fibrosis.

Current opinion in pharmacology (Print), 2022
Small molecular modulators of the cystic fibrosis transmembrane conductance regulator protein are transforming the care of people with cystic fibrosis. Highly effective modulators are now approved for nearly 90% of the adult CF population.
K. A. Despotes, S. Donaldson
semanticscholar   +1 more source

The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing superfunctional protein that can be further enhanced by CFTR modulators

American Journal of Physiology - Lung cellular and Molecular Physiology, 2023
Ten percent of cystic fibrosis (CF) patients carry a Premature Termination Codon (PTC); no nutation-specific therapies exist for these individuals. ELX-02, a synthetic aminoglycoside, suppresses translation termination at PTCs (i.e., readthrough) by ...
Jianguo Chen, Kari Thrasher, Lianwu Fu, Wen Wang, S. Aghamohammadzadeh, Hui Wen, L. Tang, K. Keeling, Emily Falk Libby, D. Bedwell, S. Rowe   +10 more
semanticscholar   +1 more source

Efficacy and safety of elexacaftor plus tezacaftor plus ivacaftor versus tezacaftor plus ivacaftor in people with cystic fibrosis homozygous for F508del-CFTR: a 24-week, multicentre, randomised, double-blind, active-controlled, phase 3b trial

, 2022
Background: Elexacaftor plus tezacaftor plus ivacaftor is a triple-combination cystic fibrosis transmembrane conductance regulator (CFTR) modulator regimen shown to be generally safe and efficacious in people with cystic fibrosis aged 12 years or older ...
Moskowitz, Samuel M., Ahluwalia, Neil, Peckham, Daniel, Lee, Timothy, Lorenz, Michael, Hilliard, Tom, Vanderhelst, Eef, Duckers, Jamie, Verhulst, Stijn, Van Braeckel, Eva, McKone, Edward F., Bruinsma, Bote G., Thursfield, Rebecca, van Koningsbruggen-Rietschel, Silke, Harris, Christopher, Gleiber, Wolfgang, Stehling, Florian, Vermeulen, Francois, Lou, Yiyue, Downey, Damian G., Aurora, Paul, Wark, Peter, Fischer, Rainald, Nash, Edward F., Mall, Marcus A., Gray, Robert, Tullis, Elizabeth, Lam, Anna P., Roehmel, Jobst, Haworth, Charles, Withers, Nicholas John, Tian, Simon, Barry, Peter, Watson, Danie, Robinson, Philip J., Yuan, Jason, Legg, Julian, Waltz, David, Sutharsan, Sivagurunathan, Mulrennan, Siobhain A., Clements, Barry S., Naehrig, Susanne, Wainwright, Claire E., Doe, Simon James, Smith, Daniel J., MacGregor, Gordon, Barr, Helen Louise   +46 more
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CFTR Modulates Orai1 Dynamics [PDF]

Biophysical Journal, 2011
Calcium signaling regulates many cellular processes and is upregulated in cystic fibrosis (CF) epithelial cells. Agonists stimulate Ca2+ release from ER stores and trigger the formation of a complex between the plasma membrane (PM) Ca2+ channel Orai1 and stromal interaction molecule 1 (STIM1), a primarily endoplasmic reticulum (ER) resident protein ...
AbuArish, Asmahan, Balghi, Haouaria, Arane, Tal, Wiseman, Paul, Hanrahan, John   +4 more
openaire   +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

The Impact of Highly Effective CFTR Modulators on Growth and Nutrition Status

Nutrients, 2021
Patients with cystic fibrosis (CF) are at increased risk of malnutrition and growth failure due to multiple factors as a result of suboptimal or absent function of the CFTR chloride channel protein.
R. Bass, J. Brownell, V. Stallings
semanticscholar   +1 more source