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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
Cystic Fibrosis airway epithelium remodelling: involvement of inflammation.
New
Coraux et al., Reims, France. In J Pathol, 28 Nov 2014
Whether this remodelling is secondary to deleterious infectious and inflammatory mediators, or to alterations of CF human airway epithelial (HAE) cells such as their hyper-inflammatory phenotype or their basic Cystic Fibrosis Transmembrane conductance Regulator (CFTR) default remains debated.
MANAGEMENT OF ENDOCRINE DISEASE: Cystic fibrosis-related diabetes: novel pathogenic insights opening new therapeutic avenues.
New
Barrio, Madrid, Spain. In Eur J Endocrinol, 21 Nov 2014
UNLABELLED: Cystic fibrosis (CF) is a recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR).
Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population.
New
Boudjema et al., Oran, Algeria. In Ann Biol Clin (paris), 01 Nov 2014
Wrongly considered as a European disease, CF is found in Algeria; but the literature data on the clinical profile and the spectrum of CFTR gene mutations are poor.
Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation.
New
Raia et al., Milano, Italy. In Autophagy, 01 Nov 2014
Cysteamine was also able to increase the plasma membrane expression of the F508del-CFTR protein in nasal epithelial cells from F508del homozygous CF patients, and these effects persisted for 24 h after cysteamine withdrawal.
New Pharmacological Approaches for Cystic Fibrosis: Promises, Progress, Pitfalls.
Review
New
Amaral et al., Brisbane, Australia. In Pharmacol Ther, Jul 2014
UNLABELLED: With the discovery of the CFTR gene in 1989, the search for therapies to improve the basic defects of cystic fibrosis (CF) commenced.
Cigarette smoke and calcium conspire to impair CFTR function in airway epithelia.
Review
New
Braun, Calgary, Canada. In Channels (austin), May 2014
CFTR (cystic fibrosis transmembrane conductance regulator) is a cAMP-regulated Cl(-) channel in the apical membrane of epithelium that contributes to salt and water secretion onto the luminal surface of airways, thereby ensuring that secreted mucus is sufficiently hydrated for movement along the epithelial surface.
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.
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.
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.
Longevity and Plasticity of CFTR Provide an Argument for Noncanonical SNP Organization in Hominid DNA.
New
Sorscher et al., Birmingham, United States. In Plos One, Dec 2013
UNLABELLED: Like many other ancient genes, the cystic fibrosis transmembrane conductance regulator (CFTR) has survived for hundreds of millions of years.
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.
Aetiopathogenesis of liver changes in the course of cystic fibrosis, considering disturbances of the bile acid profile as well as genetic and immunological factors.
Review
Grzybowska-Chlebowczyk et al., Katowice, Poland. In Prz Gastroenterol, 2012
Liver changes observed in the course of cystic fibrosis comprise a group of complex processes of fibrosis, inflammation, remodelling, apoptosis and cholestasis as a result of abnormal functioning of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, immunological reactions and response to oxidation stress.
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 .
Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein.
Impact
Rossant et al., Toronto, Canada. In Nat Biotechnol, 2012
Cystic fibrosis (CF) is a fatal genetic disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which regulates chloride and water transport across all epithelia and affects multiple organs, including the lungs.
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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