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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
Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis.
New
Shimosegawa et al., Sendai, Japan. In Dig Dis Sci, 10 Jan 2015
BACKGROUND: The cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the development of cystic fibrosis, is known as a pancreatitis susceptibility gene.
Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
New
Karchin et al., Baltimore, United States. In Hum Mol Genet, 08 Jan 2015
Using 20 variants from CFTR nucleotide-binding domains and six quantitative measures of cystic fibrosis (CF) severity, we trained classifiers to predict CF severity from CFTR variants.
Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation.
New
Messaoud et al., Tunis, Tunisia. In Acta Physiol Hung, 06 Jan 2015
UNLABELLED: The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular method in clinical linkage analysis.
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, 31 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.
The low PLC-δ1 expression in cystic fibrosis bronchial epithelial cells induces upregulation of TRPV6 channel activity.
New
Vandebrouck et al., Poitiers, France. In Cell Calcium, 18 Dec 2014
UNLABELLED: Increase of Ca(2+) influx in Cystic Fibrosis (CF) cells has been reported to be related to Transient Receptor Potential Canonical (TRPC6) channel, which is implicated in a functional coupling with Cystic Fibrosis Transmembrane conductance Regulator (CFTR).
Genetics of acute and chronic pancreatitis: An update.
Review
New
Nageshwar Reddy et al., Hyderābād, India. In World J Gastrointest Pathophysiol, 15 Dec 2014
Candidate gene and genetic linkage studies have identified polymorphisms in cationic trypsinogen (PRSS1), SPINK1, cystic fibrosis trans-membrane conductance regulator (CFTR), Chymotrypsinogen C (CTRC), Cathepsin B (CTSB) and calcium sensing receptor (CASR).
Delivery of genes into the CF airway.
Review
New
Hyde et al., Oxford, United Kingdom. In Thorax, Oct 2014
Gene therapy was suggested as a potential treatment for cystic fibrosis (CF), even before the identification of the CFTR gene.
Rescuing ΔF508 CFTR with trimethylangelicin, a dual-acting corrector and potentiator.
Review
New
Matalon et al., Gdańsk, Poland. In Am J Physiol Lung Cell Mol Physiol, Oct 2014
Since the discovery of the cystic fibrosis (CF) gene that encodes the CF transmembrane conductance regulator (CFTR) in 1989, there has been considerable progress in understanding the molecular defects associated with different mutations in the CFTR protein.
Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients.
New
Impact
Clevers et al., Utrecht, Netherlands. In Cell Stem Cell, Jan 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.
Abnormal unsaturated fatty acid metabolism in cystic fibrosis: biochemical mechanisms and clinical implications.
Review
New
Seegmiller, Nashville, United States. In Int J Mol Sci, Dec 2013
Cystic fibrosis is an inherited multi-organ disorder caused by mutations in the CFTR gene.
Liver disease in cystic fibrosis.
Review
New
Cichy et al., Poznań, Poland. In Prz Gastroenterol, Dec 2013
The CFLD is now considered the third cause of death, after lung disease and transplantation complications, in CF patients.
Deciphering miRNA transcription factor feed-forward loops to identify drug repurposing candidates for cystic fibrosis.
New
Tong et al., United States. In Genome Med, Dec 2013
BACKGROUND: Cystic fibrosis (CF) is a fatal genetic disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that primarily affects the lungs and the digestive system, and the current drug treatment is mainly able to alleviate symptoms.
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
New
Impact
Cutting et al., Baltimore, United States. In Nat Genet, Oct 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.
A functional CFTR assay using primary cystic fibrosis intestinal organoids.
New
Impact
Beekman et al., Utrecht, Netherlands. In Nat Med, Jul 2013
Here we apply this technology to study primary intestinal organoids of people suffering from cystic fibrosis, a disease caused by mutations in CFTR, encoding cystic fibrosis transmembrane conductance regulator.
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
Impact
Devlin et al., Pittsburgh, United States. In Nat Genet, 2012
Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk.
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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