Results 61 to 70 of about 7,354 (172)

Molecular and pharmacological evaluation of rare, cystic fibrosis‐causing missense mutations of the CFTR channel

The Journal of Physiology, Volume 603, Issue 19, Page 5437-5453, October 1, 2025.
Abstract figure legend Molecular pathomechanisms of five rare cystic fibrosis‐associated mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel. Top right, mutation loci mapped on the structure of the CFTR protein (pdbid: 6msm). Bottom left, Class II mutations cause defective processing of the channel protein, causing
Olivér Závoti, László Csanády
wiley   +1 more source

Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation [PDF]

European Respiratory Review, 2013
Cystic fibrosis (CF) is an autosomal recessive lethal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes for CFTR, an epithelial cell-surface expressed protein responsible for the transport of ...
Isabelle Sermet-Gaudelus
doaj  

Ivacaftor ameliorates mucus burden, bacterial load, and inflammation in acute but not chronic P. aeruginosa infection in hG551D rats

Respiratory Research
Background Newly approved highly effective modulation therapies (HEMT) have been life-changing for people with CF. Although these drugs have resulted in significant improvements in lung function and exacerbation rate, bacterial populations in the lung ...
Johnathan D. Keith, Mikayla Murphree-Terry, Gretchen Bollar, Ashley M. Oden, Ian H. Doty, Susan E. Birket   +5 more
doaj   +1 more source

Strength‐Oriented Virtual Exercise Training Intervention in Children and Adolescents with Cystic Fibrosis Under CFTR Modulators (the FIQMODE Study): Study Protocol for a Randomized Controlled Trial

Current Protocols, Volume 5, Issue 9, September 2025.
Abstract Muscle health has not been thoroughly analyzed in pediatric cystic fibrosis (CF) under elexacaftor/tezacaftor/ivacaftor (ETI) therapy together with exercise interventions in randomized controlled trials (RCTs). The aim of this study will be to determine the effects of a virtual live exercise training intervention on muscle health and ...
Lisset Pantoja‐Arévalo, Thomas Yvert, Tamara Iturriaga, Verónica Sanz‐Santiago, Olga Barceló, Carlos Quesada‐González, Ana Morales‐Tirado, Catalina Santiago‐Dorrego, Alejandro López‐Neyra, Marta Ruiz de Valbuena, Cristina De Manuel Gómez, Margarita Rubio Alonso, Silvia De Vidania, Carmen Ramírez‐Castillejo, Marcela González‐Gross, Margarita Pérez‐Ruiz   +15 more
wiley   +1 more source

P323 Does elexacaftor/tezacaftor/ivacaftor triple therapy significantly raise blood lipids? A longitudinal cohort study [PDF]

, 2023
R J Docherty, J. Still, Owen Dempsey
openalex   +1 more source

Impact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation.

PLoS ONE, 2015
BackgroundAirway microbiota composition has been clearly correlated with many pulmonary diseases, and notably with cystic fibrosis (CF), an autosomal genetic disorder caused by mutation in the CF transmembrane conductance regulator (CFTR).
Cédric Bernarde, Marlène Keravec, Jérôme Mounier, Stéphanie Gouriou, Gilles Rault, Claude Férec, Georges Barbier, Geneviève Héry-Arnaud   +7 more
doaj   +1 more source

WS06.04 Lung volumes as possible factors explaining the heterogeneity in the response to elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease [PDF]

, 2023
Chiara Premuda, Andrea Gramegna, Gianfranco Alicandro, Francesca Lucca, Mariangela Retucci, Francesco Amati, Sonia Volpi, Stefano Aliberti, Federico Blasi   +8 more
openalex   +1 more source

Ivacaftor attenuates gentamicin-induced ototoxicity through the CFTR-Nrf2-HO1/NQO1 pathway

Redox Report
Objectives Gentamicin is one of the most common ototoxic drugs that can lower patients' quality of life. Oxidative stress is a key factors inducing sensory hair cell death during gentamicin administration.
Rui Hu, Fan Wu, Yi-Qing Zheng
doaj   +1 more source

Long-term safety and efficacy of tezacaftor–ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study [PDF]

, 2021
Patrick A. Flume, Reta Fischer Biner, D.G. Downey, Cynthia Brown, Manu Jain, Rainald Fischer, K. De Boeck, Gregory S. Sawicki, Philip M. Chang, Hildegarde Paz-Díaz, Jaime Rubin, Yoojung Yang, Xingdi Hu, David J. Pasta, Stefanie J. Millar, Daniel Campbell, Xin Wang, Neil Ahluwalia, Caroline A. Owen, Claire Wainwright, Ronald L. Gibson, Steven M. Rowe, Noah Lechtzin, Richard C. Ahrens, Karen McCoy, Moira L. Aitken, Scott H. Donaldson, Kimberly McBennett, Joseph M. Pilewski, Joanne Billings, Carlos Milla, Ronald C. Rubenstein, Daniel Rosenbluth, Rachel W. Linnemann, Michael R. Powers, Christopher N. Fortner, Carla A. Frederick, Theodore G. Liou, Philip Black, Janice Wang, John L. Colombo, Maria Berdella, M.V. Indihar, Cynthia Brown, Michael Anstead, Lara Bilodeau, Leonard Sicilian, Manu Jain, James Tolle, Kathryn Moffett, Samya Z. Nasr, Jennifer L. Taylor‐Cousar, Tara Lynn Barto, Nicholas Antos, John Rogers, Bryon Quick, Henry R. Thompson, Gregory S. Sawicki, Bruce Barnett, Robert Zanni, Thomas C. Smith, Karen D. Schultz, Claire Keating, Patrick A. Flume, Gregory J. Omlor, Alix Ashare, Karen Z. Voter, Nighat Mehdi, Maria Gabriela Tupayachi Ortiz, Tonia E. Gardner, Steven R. Boas, Barbara Messore, Edith T. Zemanick, Raksha Jain, Michael McCarthy, Dana G. Kissner, K. Patel, John McNamara, Julie V. Philley, Ariel Berlinski, Francisco J. Calimano, Terry Chin, Douglas Conrad, Cori Daines, Hengameh Raissy, Thomas G. Keens, Jorge Lascano, Bennie McWilliams, Brian Morrissey, Santiago Reyes, Subramanyam Chittivelu, Sabiha Hussain, Arvey Stone, James Wallace, Ross C. Klingsberg, Julie Biller, S. Bui, Olaf Sommerburg, Elisabetta Bignamini, Mirella Collura   +99 more
openalex   +1 more source

P080 Improved clinical outcomes following ivacaftor treatment in a cystic fibrosis patient homozygous for 3272–26A>G variant [PDF]

, 2023
Jasna Rodman Berlot, Malena Aldeco, Dušanka Lepej, M. Praprotnik, S. Šetina Šmid, Aleksandra Zver, Uroš Krivec   +6 more
openalex   +1 more source