CF transmembrane conductance regulator
Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene
... (non-classic CF or other WHO diagnostic definitions in patients with very limited ...the CF centre) and symptomatic ...of CF in a compatible clin- ical setting. However, in most CF centres the ...
7
Repeat administration of an adenovirus vector encoding cystic fibrosis transmembrane conductance regulator to the nasal epithelium of patients with cystic fibrosis
... the CF transmembrane conductance regulator ...of CF transmembrane conductance regulator cDNA to airway epithelia and correction of the Cl- transport ...of CF ...
9
Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis
... of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), ...i.e. CF transmembrane conductance regulator (CFTR)- related metabolic syndrome (CRMS) or CF ...
7
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
... The CF gene product CF transmembrane conductance regulator (CFTR) is expressed in the apical membrane of pancreatic duct cells, and mutant CFTR accounts for the pathology in the ...
6
Novel pharmacologic therapies for cystic fibrosis
... in CF transmembrane conductance regulator (CFTR), the morbidity and mortality of CF could be dramatically ...six transmembrane domains (TMD), two nucleotide binding domains ...
7
A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype
... the CF transmembrane conductance regulator (CFTR) gene, which encodes a chloride channel regulated by cyclic adenosine monophosphate ...1 CF is characterized by a wide variability ...
8
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
... why CF epithelial cells are more supportive of in- tracellular bacteria than normal epithelial ...of CF cells (right) also results in loss of actin stress fibers, as well as in a higher frequency of ...
14
Influence of the cystic fibrosis transmembrane conductance regulator on expression of lipid metabolism-related genes in dendritic cells
... protein biosynthesis/cell adhesion; (5) cell cycle; (6) tran- scription; (7) transport and (8) not classified genes. Comparisons of the gene profile difference between WT and CF naive DC, and DC following ...
15
Cystic Fibrosis - An Update
... system. CF is caused by one of a large numbers of mutations of the gene for a protein called the cystic fibrosis transmembrane conductance regulator ...two CF-causing mutations in ...
5
Airways Surface Liquid and Ion Transport - The Mechanism Maintained Patency
... fibrosis transmembrane conductance regulator), placed on the apical side of the non-ciliated epithelial cells, plays an important role in the transport of chloride ions ...The CF (cystic ...
7
Analysis of cystic fibrosis–associated P67L CFTR illustrates barriers to personalized therapeutics for orphan diseases
... Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) lead to damage of respira- tory, hepatic, pancreatic, and other exocrine tissues (1–3). CFTR functions as a chloride and ...
11
Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding
... corresponding mutation in the CFTR second nucleotide binding domain, G1349D, led to decreased nucleotide binding by CFTR NBDs, while the delta F508 mutation did not alter nucleotide binding. These results implicate ...
10
Localization of the cystic fibrosis transmembrane conductance regulator in pancreas
... monoclonal antibody which stains pancreatic centroacinar and intralobular duct cells. Both antibodies localized to the same population of cells, with alpha-1468 being confined to the apical domain of these cells. No ...
6
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
... these CF ion transport abnormalities. Polarized primary cultures of human CF and normal nasal epithelial cells were infected with Ad5-CBCFTR at an moi (10(4)) which transduced virtually all cells or Ad5-CMV ...
7
Adenovirus-Mediated Persistent Cystic Fibrosis Transmembrane Conductance Regulator Expression in Mouse Airway Epithelium
... double-transgenic CF (2/2) mice, in the presence of amiloride (100 mM), replacement of NaCl with sodium gluconate (low Cl) in the Ringer’s solution caused a small depolarization ...the CF null mice (6, 7, ...
8
Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings
... like CF, and for differentiating the rela- tive importance of the major genetic lesion and other genetic and environmental factors (22, ...pairs. CF twins and siblings share many environ- mental factors ...
12
Exon 10 CFTR gene mutation in male infertility
... A set of specific designed primers (CF-M469I-F and CF-M469I-R) were used for amplification of some part of exon 10 of the CFTR gene. The 240 bp amplified fragment was subjected to digestion with NdeI. The ...
6
The role of cystic fibrosis conductance regulator in the clearance of Burkholderia cenocepacia by macrophages
... fibrosis transmembrane conductance regulator (CFTR) is a voltage-independent, protein kinase A (PKA)-regulated chloride (Cl - ) channel belonging to the adenosine triphosphate (ATP)-binding cassette ...
101
The regulation of CFTR by protein-protein interactions
... Less is known about the ability of serine/threonine phosphatases to regulate CFTR activity or how they are compartmentalized with CFTR. Work from many labs suggests that multiple phosphatases including PP2A, PP2B, PP2C, ...
191
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 ...
12