transmembrane conductance regulator
R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series
... fibrosis transmembrane conductance regulator, CFTR, gene have different phenotypic manifestations at the molecular level with varying clinical consequences for individuals possessing such ...fibrosis ...
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Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator
... Synonymous or silent mutations are often overlooked in genetic analyses for disease- causing mutations unless they are directly associated with potential splicing defects. More recent studies, however, indicate that some ...
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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
... ABSTRACT The opportunistic pathogen Pseudomonas aeruginosa can infect almost any site in the body but most often targets epithelial cell-lined tissues such as the airways, skin, and the cornea of the eye. A common ...
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Antisense oligodeoxynucleotide to the cystic fibrosis transmembrane conductance regulator inhibits cyclic AMP activated but not calcium activated cell volume reduction in a human pancreatic duct cell line
... CF transmembrane conductance regulator (CFTR) is expressed in the apical membrane of pancreatic duct cells, and mutant CFTR accounts for the pathology in the CF ...
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Normalization of raised sodium absorption and raised calcium mediated chloride secretion by adenovirus mediated expression of cystic fibrosis transmembrane conductance regulator in primary human cystic fibrosis airway epithelial cells
... Normalization of raised sodium absorption and raised calcium-mediated chloride secretion by adenovirus-mediated expression of cystic fibrosis transmembrane conductance regulator in prima[r] ...
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Identification and regulation of the cystic fibrosis transmembrane conductance regulator generated chloride channel
... fibrosis transmembrane conductance regulator (CFTR) generates cAMP-regulated Cl- channels; mutations in CFTR cause defective Cl- channel function in cystic fibrosis ...low conductance Cl- ...
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Repeat administration of an adenovirus vector encoding cystic fibrosis transmembrane conductance regulator to the nasal epithelium of patients with cystic fibrosis
... CF transmembrane conductance regulator ...CF transmembrane conductance regulator cDNA to airway epithelia and correction of the Cl- transport ...
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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
... In congenital bilateral absence of the vas deferens patients, the T5 allele at the polymorphic Tn locus in the CFTR (cys- tic fibrosis transmembrane conductance regulator) gene is a frequent disease ...
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A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype
... C ystic fibrosis (CF), the most common lethal autosomal recessive disease among whites, is caused by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a chloride ...
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Localization of cystic fibrosis transmembrane conductance regulator in chloride secretory epithelia
... transmembrane conductance regulator (CFTR). To further our understanding of CFTR's function and regulation, we used confocal immunofluorescence microscopy to localize CFTR in cells stained with ...
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Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding
... fibrosis transmembrane conductance regulator (CFTR), for example, appear to cause disease by abrogating normal biosynthetic processing, a mechanism which results ...
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Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization
... transmembrane conductance regulator (CFTR) gene in the human gastrointestinal tract and associated organs. The stomach exhibits a low level of CFTR expression throughout gastric mucosa. In the small ...
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Localization of the cystic fibrosis transmembrane conductance regulator in pancreas
... transmembrane conductance regulator (CFTR). In this report, antibodies against CFTR peptides were used to localize the CFTR protein in human pancreas. An affinity purified antibody (alpha-1468) ...
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Ibuprofen inhibits cystic fibrosis transmembrane conductance regulator mediated Cl secretion
... While the above results suggest that NSAIDs may be use- ful in CF therapy, they do not address the mechanism by which these compounds improve lung function. CF is caused by a mutation in the CFTR Cl 2 channel resulting ...
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Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives
... The aim of class II targeting compounds is to rescue the trafficking defect of mutant CFTR and therefore increase the quantity of mutated CFTR protein inserted in the plasma membrane.[r] ...
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A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis
... conductance regulator (CFTR) gene. We report on a novel nonsense mutation that leads to exon skipping and the activation of a cryptic exon. Screening of genomic DNA from 700 German patients with CF ...
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Activation of endogenous deltaF508 cystic fibrosis transmembrane conductance regulator by phosphodiesterase inhibition
... It is clear that many disease-causing CFTR mutants can be activated by influencing various parts of the cAMP–PKA pathway. High concentrations of IBMX in conjunction with adenylate cyclase activators have been used to ...
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Attenuation of Phosphorylation dependent activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by disease causing mutations at the transmission interface
... disruptive to the transmission interface comprising NBD1. I-TASSER modeled the full-length CFTR sequence by generating and clustering structural simulations with the SPICKER program and then aligning the ...
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Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene
... Regulator (CFTR) gene bring about the disease. Up to now around 1900 mutations in the CFTR gene have been identified (www.genet.sickkids.on.ca). Most of them are somewhat rare and this means that genetic test ...
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PubMedCentral-PMC5148144.pdf
... Histogram for maximum sweat chloride values in subjects with the same cystic fibrosis transmembrane conductance regulator ( CFTR ) mutations ( Phe508del homozygotes), illustrating the va[r] ...
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