Results 11 to 20 of about 71,270 (242)

Cftr [PDF]

The Journal of General Physiology, 2001
Some studies of CFTR imply that channel activation can be explained by an increase in open probability (Po), whereas others suggest that activation involves an increase in the number of CFTR channels (N) in the plasma membrane. Using two-electrode voltage clamp, we tested for changes in N associated with activation of CFTR in Xenopus oocytes using a ...
Xuehong Liu, Stephen S. Smith, Fang Sun, David C. Dawson   +3 more
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CFTR mutations altering CFTR fragmentation [PDF]

Biochemical Journal, 2012
Most CF (cystic fibrosis) results from deletion of a phenylalanine (F508) in the CFTR {CF transmembrane-conductance regulator; ABCC7 [ABC (ATP-binding cassette) sub-family C member 7]} which causes ER (endoplasmic reticulum) degradation of the mutant. Using stably CFTR-expressing BHK (baby-hamster kidney) cell lines we demonstrated that wild-type CTFR ...
TOSONI, KENDRA, Michelle Stobbart, D.i.a.n.e. .M. Cassidy, VENERANDO, ANDREA, PAGANO, MARIO ANGELO PRIMO, Simão Luz, M.a.r.g.a.r.i.d.a. .D. Amaral, Karl Kunzelmann, PINNA, LORENZO, C.a.r.l.o.s. .M. Farinha, Anil Mehta   +10 more
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CFTR structure [PDF]

Journal of Cystic Fibrosis, 2018
Structural studies of the cystic fibrosis transmembrane conductance regulator (CFTR) protein are critical to understand molecular mechanisms involved in gating of the apical anion channel as well as the way in which the gating is regulated, especially by the regulatory region (R region).
Isabelle, Callebaut, P Andrew, Chong, Julie D, Forman-Kay   +2 more
openaire   +2 more sources

CFTR deficiency aggravates Ang II induced vasoconstriction and hypertension by regulating Ca𝟐+ influx and RhoA/Rock pathway in VSMCs

Frontiers in Bioscience-Landmark, 2021
Background: Cystic fibrosis transmembrane conductance regulator (CFTR) has been associated with vascular tone and blood pressure (BP), however, its role in the genesis of hypertension remains elusive.
Liyan Zhao, Feng Yuan, Ni Pan, Yun Yu, Hanyan Yang, Yaosheng Liu, Ruomei Wang, Bin Zhang, Guanlei Wang   +8 more
doaj   +1 more source

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 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

New era of cystic fibrosis: full mutational analysis and personalized therapy [PDF]

, 2017
Despite its apparently simple genetics, cystic fibrosis (CF) is a rather complex genetic disease. A lot of variability in the steps of the path from the cystic fibrosis transmembrane conductance regulator (CFTR ) gene to the clinical manifestations ...
Lucarelli, Marco
core   +1 more source

Cystic Fibrosis - a very common genetic disease among the population - a general review

Journal of Education, Health and Sport, 2023
Cystic fibrosis is the most common genetic disease inherited in an autosomal recessive manner occurring among populations of Caucasian descent. It is an incurable, multi-composition monogenic disease caused by mutations in the gene encoding the CFTR ...
Julia Rutkowska, Klaudia Skorek, Rafał Babiak, Karolina Bajak, Paulina Czuchryta, Anastazja Domańska, Agnieszka Gawęda, Agata Grabek, Żaneta Rzęsa-Tokarczyk, Agnieszka Urbańczyk   +9 more
doaj   +1 more source

Mucin glycosylation and sulphation in airway epithelial cells is not influenced by cystic fibrosis transmembrane conductance regulator expression [PDF]

, 2005
Abnormalities in mucus properties and clearance make a major contribution to the pathology of cystic fibrosis (CF). Our aim was to test the hypothesis that the defects in CF mucus are a direct result of mutations in the CF transmembrane conductance ...
Dell, Anne, Evans, Joanne, Harris, Ann, Leir, Shih-Hsing, Morris, Howard R, Palmai-Pallag, Timea, Parry, Simon   +6 more
core   +1 more source

CFTR Inhibitors

Current Pharmaceutical Design, 2013
The cystic fibrosis transmembrane conductance regulator (CFTR) protein is a cAMP-regulated Cl- channel whose major function is to facilitate epithelial fluid secretion. Loss-of-function mutations in CFTR cause the genetic disease cystic fibrosis. CFTR is required for transepithelial fluid transport in certain secretory diarrheas, such as cholera, and ...
Verkman, Alan S, Synder, David, Tradtrantip, Lukmanee, Thiagarajah, Jay R, Anderson, Marc O   +4 more
openaire   +4 more sources