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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 30 Jun 2015.

Cystic fibrosis transmembrane conductance regulator

Cystic Fibrosis Transmembrane Conductance Regulator, CFTR
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, HAD, ACID, V1a, AGE
Papers using Cystic Fibrosis Transmembrane Conductance Regulator antibodies
Inefficient replication of Listeria innocua in the cytosol of mammalian cells.
Supplier
Cossart Pascale, In PLoS Pathogens, 2003
... pharmacological inhibitors and radical donors oleamide, carbonoxolone, α-glycerrhetinic acid, brefeldin A, thapsigargin, CFTR inhibitor II (CFTR II.), indomethacin, bumetanide, N-(G)-nitro-L- arginine methyl ester (L-NAME), UO-126, hydrogen peroxide (H2O2) and cumene hydroperoxide were purchased from Sigma Aldrich.
Papers on Cystic Fibrosis Transmembrane Conductance Regulator
Junctional abnormalities in human airway epithelial cells expressing delF508 CFTR.
New
Koval et al., Atlanta, United States. In Am J Physiol Lung Cell Mol Physiol, 26 Jul 2015
UNASSIGNED: Cystic Fibrosis (CF) has a profound impact on airway physiology.
Targeting ion channels in cystic fibrosis.
Review
New
Galietta et al., Heidelberg, Germany. In J Cyst Fibros, 23 Jul 2015
UNASSIGNED: Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause a characteristic defect in epithelial ion transport that plays a central role in the pathogenesis of cystic fibrosis (CF).
Resveratrol increases F508del-CFTR dependent salivary secretion in cystic fibrosis mice.
New
Noel et al., Brussels, Belgium. In Biol Open, 19 Jul 2015
Studies have suggested activating effects of resveratrol, a naturally-occurring polyphenol compound with antioxidant and anti-inflammatory properties, on CF transmembrane conductance regulator (CFTR) protein function.
Rescuing trafficking mutants of the ATP binding cassette protein, ABCA4, with small molecule correctors as a treatment for Stargardt eye disease.
New
Cebotaru et al., Hopkins, United States. In J Biol Chem, 19 Jul 2015
Here, we have examined two disease-causing mutations in the NBD1 region of ABCA4, R1108C and R1129C, which occur within regions of high similarity with CFTR, another ABC transporter gene which is associated with cystic fibrosis.
Breakthrough therapies: Cystic fibrosis (CF) potentiators and correctors.
New
Rowe et al., Birmingham, United States. In Pediatr Pulmonol, 19 Jul 2015
UNASSIGNED: Cystic Fibrosis is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene resulting in abnormal protein function.
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
New
Impact
TRAFFIC and TRANSPORT Study Groups. et al., Brisbane, Australia. In N Engl J Med, 17 Jun 2015
UNASSIGNED: Background Cystic fibrosis is a life-limiting disease that is caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) protein activity.
Another Beginning for Cystic Fibrosis Therapy.
New
Impact
Davis, Cleveland, United States. In N Engl J Med, 17 Jun 2015
Cystic fibrosis, an autosomal recessive disease of epithelial chloride transport, can be caused by more than 1000 mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR).
The multidrug transporter Pdr5 on the 25th anniversary of its discovery: an important model for the study of asymmetric ABC transporters.
Review
New
Ambudkar et al., Bethesda, United States. In Biochem J, 01 Jun 2015
In the present review, we discuss the observations made with Pdr5 and compare them with findings from clinically important asymmetric ABC transporters, such as CFTR (cystic fibrosis transmembrane conductance regulator), Cdr1 and Tap1/Tap2.
Translating the genetics of cystic fibrosis to personalized medicine.
Review
New
Guillot et al., Paris, France. In Transl Res, 15 May 2015
This multiorgan disease is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein, a chloride channel recognized as regulating several apical ion channels.
The role of pancreatic ducts in the pathogenesis of acute pancreatitis.
Review
New
Rakonczay et al., Szeged, Hungary. In Pancreatology, 07 May 2015
The majority of the review will focus on the central role of cystic fibrosis transmembrane conductance regulator (CFTR), a critical protein in the regulation of ductal secretion, in the pathogenesis of acute pancreatitis which is highlighted by numerous investigations.
The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease.
New
Impact
Katze et al., Seattle, United States. In Nat Biotechnol, Dec 2014
Using microarray data from 16 ferret samples reflecting cystic fibrosis disease progression, we showed that transcriptional changes in the CFTR-knockout ferret lung reflect pathways of early disease that cannot be readily studied in human infants with cystic fibrosis disease.
Physiological impact of abnormal lipoxin A₄ production on cystic fibrosis airway epithelium and therapeutic potential.
Review
New
Urbach et al., Dublin, Ireland. In Biomed Res Int, Dec 2014
In CF, the loss of chloride transport caused by the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel gene results in dehydration, mucus plugging, and reduction of the airway surface liquid layer (ASL) height which favour chronic lung infection and neutrophil based inflammation leading to progressive lung destruction and early death of people with CF.
Liposome-based Formulation for Intracellular Delivery of Functional Proteins.
New
Pitard et al., Nantes, France. In Mol Ther Nucleic Acids, Dec 2014
Finally, we observed that K8 treatment with DOSP:MM27/K8 rescues the cyclic adenosine monophosphate (cAMP)-dependent chloride efflux in F508del-CFTR expressing cells, providing a new tool for the study of channelopathies.
Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients.
Impact
Clevers et al., Utrecht, Netherlands. In Cell Stem Cell, 2014
Here we use the CRISPR/Cas9 genome editing system to correct the CFTR locus by homologous recombination in cultured intestinal stem cells of CF patients.
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Impact
Cutting et al., Baltimore, United States. In Nat Genet, 2013
Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator gene CFTR have empirical evidence that they cause cystic fibrosis.
Sinus hypoplasia precedes sinus infection in a porcine model of cystic fibrosis.
GeneRIF
Zabner et al., Iowa City, United States. In Laryngoscope, 2012
CFTR gene has a potential role in the develeopment of chronic sinusitis born with cystic fibrosis .
Conformational changes relevant to channel activity and folding within the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.
GeneRIF
Forman-Kay et al., Toronto, Canada. In J Biol Chem, 2012
Conformational changes relevant to channel activity and folding within the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.
A microRNA network regulates expression and biosynthesis of wild-type and DeltaF508 mutant cystic fibrosis transmembrane conductance regulator.
GeneRIF
McCray et al., Iowa City, United States. In Proc Natl Acad Sci U S A, 2012
miRNA-138 regulates CFTR expression through its interactions with the transcriptional regulatory protein SIN3A.
Combination of CFTR gene mutation and autoimmune pancreatitis presenting as necrotizing pancreatitis.
GeneRIF
Weinstein et al., In Pancreas, 2012
Letter/Case Report: CFTR gene mutations and autoimmune pancreatitis lead to development of necrotizing pancreatitis.
Bicarbonate and functional CFTR channel are required for proper mucin secretion and link cystic fibrosis with its mucus phenotype.
GeneRIF
Hansson et al., Göteborg, Sweden. In J Exp Med, 2012
Data show that the mucus of the small intestine in the CftrDeltaF508 mice is attached to the epithelium and is impenetrable.
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