Results 31 to 40 of about 12,522 (293)

CFTR modulator use in post lung transplant recipients [PDF]

The Journal of Heart and Lung Transplantation, 2021
Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapy has previously been contraindicated in solid organ transplant recipients. This was due to lack of data and concern for interactions with immunosuppressive drug regimens. However, in post-lung transplant recipients, CFTR modulators may improve extrapulmonary manifestations of ...
Lauryn A. Benninger, Cesar Trillo, Jorge Lascano   +2 more
openaire   +2 more sources

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

Personalizing CFTR modulator therapies [PDF]

, 2021
over 2000 genetic mutations that can cause CF, resulting in many phenotypes. Recently new drugs were developed that treat the disease at the origin of the problem; they enhance the function of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein which is not functioning properly in CF. These potentially life saving drugs are currently
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

Promoter Architecture Modulates CFTR Exon 9 Skipping [PDF]

Journal of Biological Chemistry, 2003
Using hybrid minigene experiments, we have investigated the role of the promoter architecture on the regulation of two alternative spliced exons, cystic fibrosis transmembrane regulator (CFTR) exon 9 and fibronectin extra domain-A (EDB). A specific alternative splicing pattern corresponded to each analyzed promoter.
Franco, Pagani, Cristiana, Stuani, Elisabetta, Zuccato, Alberto R, Kornblihtt, Francisco E, Baralle   +4 more
openaire   +2 more sources

Characterization of Defects in Ion Transport and Tissue Development in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-Knockout Rats [PDF]

, 2014
Animal models for cystic fibrosis (CF) have contributed significantly to our understanding of disease pathogenesis. Here we describe development and characterization of the first cystic fibrosis rat, in which the cystic fibrosis transmembrane conductance
Bedwell, David M., Birket, Susan E., Cadillac, Joan M., Chambers, Andre, Chu, Kengyeh K., Cui, Xiaoxia, Du, Ming, Fanucchi, Michelle V., Fortenberry, James A., Gamber, Kevin, Hong, Jeong, Ji, Diana, Reid, Lara, Rowe, Steven M., Sorscher, Eric J., Tang, Li Ping, Tearney, Guillermo, Tuggle, Katherine L., Warren, Joe   +18 more
core   +21 more sources

Modulation of CFTR gating by permeant ions [PDF]

Journal of General Physiology, 2014
Cystic fibrosis transmembrane conductance regulator (CFTR) is unique among ion channels in that after its phosphorylation by protein kinase A (PKA), its ATP-dependent gating violates microscopic reversibility caused by the intimate involvement of ATP hydrolysis in controlling channel closure. Recent studies suggest a gating model featuring an energetic
Yeh, Han-I, Yeh, Jiunn-Tyng, Hwang, Tzyh-Chang   +2 more
openaire   +2 more sources

Mechanisms of endothelial cell dysfunction in cystic fibrosis [PDF]

, 2017
Although cystic fibrosis (CF) patients exhibit signs of endothelial perturbation, the functions of the cystic fibrosis conductance regulator (CFTR) in vascular endothelial cells (EC) are poorly defined.
Anile, Marco, Cianci, Eleonora, Del Porto, Paola, Dell'Elba, Giuseppe, Di Silvestre, Sara, Evangelista, Virgilio, Guarnieri, Simone, Lanuti, Paola, Marchisio, Marco, Mari, Veronica C., Mariggiã², Maria A., Moretti, Paolo, Mucilli, Felice, Pandolfi, Assunta, Patruno, Sara, Piccoli, Antonio, Plebani, Roberto, Prioletta, Marco, Recchiuti, Antonio, Romano, Mario, Sacchetti, Silvio, Totani, Licia, Venuta, Federico   +22 more
core   +1 more source

CFTR Modulators: From Mechanism to Targeted Therapeutics

, 2022
People with cystic fibrosis (CF) suffer from a multi-organ disorder caused by loss-of-function variants in the gene encoding the epithelial anion channel cystic fibrosis transmembrane conductance regulator (CFTR). Tremendous progress has been made in both basic and clinical sciences over the past three decades since the identification of the CFTR gene.
Sheppard, David N, Yeh, Han-I, Sutcliffe, Katy, Hwang, Tzyh-Chang   +3 more
openaire   +4 more sources

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, Elborn, JS, Haq, IJ, Roberts, K   +3 more
core   +2 more sources