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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.
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
Improved Clinical and Radiographic Outcomes After Treatment With Ivacaftor in a Young Adult With Cystic Fibrosis With the P67L CFTR Mutation.
Colin et al., In Chest, 01 Apr 2015
The underlying cause of cystic fibrosis (CF) is the loss of epithelial chloride and bicarbonate transport due to mutations in the CF transmembrane conductance regulator (CFTR) gene encoding the CFTR protein.
Cystic fibrosis mouse model-dependent intestinal structure and gut microbiome.
Haston et al., Montréal, Canada. In Mamm Genome, 27 Mar 2015
UNASSIGNED: Mice with a null mutation in the cystic fibrosis transmembrane conductance regulator (Cftr) gene show intestinal structure alterations and bacterial overgrowth.
[Therapeutic advances in cystic fibrosis in 2014.]
Reix et al., Saint-Pierre-des-Corps, France. In Rev Pneumol Clin, 26 Mar 2015
UNASSIGNED: Twenty-five years after the cystic fibrosis (CF) gene identification, this discovery actually begins to benefit to patients.
G551D-CFTR needs more bound Actin than wild-type CFTR to maintain its presence in plasma membranes.
Férec et al., Brest, France. In Cell Biol Int, 25 Mar 2015
UNASSIGNED: Cystic Fibrosis is due to mutations in the CFTR gene.
New Insights about miRNAs in Cystic Fibrosis.
Tabary et al., Paris, France. In Am J Pathol, 13 Mar 2015
UNASSIGNED: The molecular basis of cystic fibrosis (CF) is a mutation-related defect in the epithelial-cell chloride channel called CF transmembrane conductance regulator (CFTR).
Cystic fibrosis and the role of gastrointestinal outcome measures in the new era of therapeutic CFTR modulation.
Working group C​ystic Fibrosis and Pancreatic Disease of the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) et al., Groningen, Netherlands. In J Cyst Fibros, 09 Mar 2015
The gastrointestinal tract offers very good opportunities to measure CFTR protein function and systematically evaluate CF related clinical outcomes based on the principal clinical gastrointestinal manifestations of CF: intestinal pH, intestinal transit time, intestinal bile salt malabsorption, intestinal inflammation, exocrine pancreatic function and intestinal fat malabsorption.
[Hyperechogenic fetal bowel as a markerof fetal cystic fibrosis].
Havalová et al., In Ceska Gynekol, Jan 2015
Two mutations in the CFTR gene associated with a severe form of CF (deltaF508/3849 KBC +10 T) were found in one foetus from the AMC group with stage III HB.
CFTR and lung homeostasis.
Matalon et al., Birmingham, United States. In Am J Physiol Lung Cell Mol Physiol, Jan 2015
Decreases in CFTR expression have dire consequences in cystic fibrosis (CF) and have been suggested to be a component of the lung pathology in chronic obstructive pulmonary disease.
Pseudomonas aeruginosa-Induced Bleb-Niche Formation in Epithelial Cells Is Independent of Actinomyosin Contraction and Enhanced by Loss of Cystic Fibrosis Transmembrane-Conductance Regulator Osmoregulatory Function.
Fleiszig et al., Berkeley, United States. In Mbio, Dec 2014
A common predisposing factor is cystic fibrosis (CF), caused by defects in the cystic fibrosis transmembrane-conductance regulator (CFTR).
The draft genome sequence of the ferret (Mustela putorius furo) facilitates study of human respiratory disease.
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.
Genetics of acute and chronic pancreatitis: An update.
Nageshwar Reddy et al., Hyderābād, India. In World J Gastrointest Pathophysiol, 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).
Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients.
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.
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.
A functional CFTR assay using primary cystic fibrosis intestinal organoids.
Beekman et al., Utrecht, Netherlands. In Nat Med, 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.
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.
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.
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.
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.
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.
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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