• No results found

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Influence of the cystic fibrosis transmembrane conductance regulator on expression of lipid metabolism-related genes in dendritic cells

Influence of the cystic fibrosis transmembrane conductance regulator on expression of lipid metabolism-related genes in dendritic cells

... Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, a member of the ATP-binding cassette (ABC) pro- ...

15

Role of Binding and Nucleoside Diphosphate Kinase A in the Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator by AMP-activated Protein Kinase

Role of Binding and Nucleoside Diphosphate Kinase A in the Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator by AMP-activated Protein Kinase

... Cystic fibrosis transmembrane conductance regulator (CFTR) Cl ⴚ channel mutations cause cystic fibrosis lung dis- ...of CFTR regulatory mechanisms could ...

15

Attenuation of Phosphorylation dependent activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by disease causing mutations at the transmission interface

Attenuation of Phosphorylation dependent activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by disease causing mutations at the transmission interface

... full-length CFTR sequence by generating and clustering structural simulations with the SPICKER program and then aligning the transmembrane region to similar PDB structures of ABC transporters which include ...

24

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

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

... one CFTR allele and a severe one on the second allele, or may even carry mild muta- tions on both CFTR ...of CFTR, such as R117H, R334W, and R347P, are other examples of mild mutations (6, ...of ...

11

Activation of endogenous deltaF508 cystic fibrosis transmembrane conductance regulator by phosphodiesterase inhibition

Activation of endogenous deltaF508 cystic fibrosis transmembrane conductance regulator by phosphodiesterase inhibition

... disease-causing CFTR mutants can be activated by influencing various parts of the cAMP–PKA ...of CFTR mutants in Xenopus oocytes (19), phosphatase inhibitors have been used to activate CFTR mutants ...

9

Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization

Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization

... of CFTR mRNA in the colon is similar to the small intestine, with highest level of expression in the epithelial cells at the base of the ...pancreas, CFTR is expressed at high levels in the small, ...

9

Proximal small bowel obstruction in a patient with cystic fibrosis: a case report

Proximal small bowel obstruction in a patient with cystic fibrosis: a case report

... the cystic fibrosis transmembrane conductance regulator ...the CFTR membrane protein, combined with enhanced sodium and fluid absorption via the epithelial sodium channels ...

5

Analysis of cystic fibrosis–associated P67L CFTR illustrates barriers to personalized therapeutics for orphan diseases

Analysis of cystic fibrosis–associated P67L CFTR illustrates barriers to personalized therapeutics for orphan diseases

... unusual cystic fibrosis (CF) mutations, with regard to both pathogenic mechanism and ...the cystic fibrosis transmembrane conductance regulator (CFTR), a defect ...

11

Roflumilast reverses CFTR-mediated ion transport dysfunction in cigarette smoke-exposed mice

Roflumilast reverses CFTR-mediated ion transport dysfunction in cigarette smoke-exposed mice

... Cystic fibrosis transmembrane conductance regulator (CFTR) is a cyclic adenosine monophosphate (cAMP)- regulated chloride channel apically expressed on epithe- lial cells in the ...

8

Airways Surface Liquid and Ion Transport - The
Mechanism Maintained Patency

Airways Surface Liquid and Ion Transport - The Mechanism Maintained Patency

... channel CFTR (cystic fibrosis transmembrane conductance regulator), placed on the apical side of the non-ciliated epithelial cells, plays an important role in the transport of ...

7

Lung clearance index in subjects with cystic fibrosis in Italy

Lung clearance index in subjects with cystic fibrosis in Italy

... of CFTR (cystic fibrosis transmembrane-conductance regulator) protein explains the damage at the early stage of cystic fibrosis disease: the protein is expressed in ...

8

Cystic Fibrosis - An Update

Cystic Fibrosis - An Update

... Cystic fibrosis (CF) is said to be the most common lethal inherited disease of the white ...the cystic fibrosis transmembrane conductance regulator ...This CFTR ...

5

Permeation through the CFTR chloride channel

Permeation through the CFTR chloride channel

... Cystic fibrosis (CF) is the most common lethal, autosomal recessive inherited disease among Caucasians, affecting approximately one in 3000 live births in the ...the cystic fibrosis ...

16

Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

... with CFTR dysfunc- tion, the physician needs to decide the most appropriate diagnostic label (non-classic CF or other WHO diagnostic definitions in patients with very limited ...one CFTR mutation ...

7

Minigene Analysis of the c 743 + 40A > G Intronic Variant in the CFTR Gene

Minigene Analysis of the c 743 + 40A > G Intronic Variant in the CFTR Gene

... Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by a variety of sequence alterations in the CFTR (Cystic Fibrosis Transmembrane regulator ...

9

Current Pediatric Research |Indexed Journals |Open Access Journal

Current Pediatric Research |Indexed Journals |Open Access Journal

... Cystic fibrosis (CF) is a progressive disease that affects many systems including respiratory, gastrointestinal, urogenital and sweat glands ...CF transmembrane conductance regulator ...

5

Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis

Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis

... for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), ...CF transmembrane conductance ...

7

[HCO3-]-regulated expression and activity of soluble adenylyl cyclase in corneal endothelial and Calu-3 cells

[HCO3-]-regulated expression and activity of soluble adenylyl cyclase in corneal endothelial and Calu-3 cells

... we chose this concentration to test sAC mRNA expression with different incubation times. As shown in figure 1C, sAC mRNA expression is significantly increased from 0 to 12 hour incubation time with no further increase at ...

12

PubMedCentral-PMC5148144.pdf

PubMedCentral-PMC5148144.pdf

... of CFTR function in vivo in assessing the response to molecular treatments ...of CFTR variants and sweat chloride concentration (19, ...affecting CFTR function (4, 16, 17, 21); however, there is an ...

8

Dynamics of soluble and cellular inflammatory markers in nasal lavage obtained from Cystic Fibrosis patients during intravenous antibiotic treatment

Dynamics of soluble and cellular inflammatory markers in nasal lavage obtained from Cystic Fibrosis patients during intravenous antibiotic treatment

... Paediatric and adult patients, diagnosed with CF by two sweat tests and/or detection of two causative CFTR-muta- tions, who electively received systemic i.v. AB treatment, were prospectively included in the study ...

11

Show all 7900 documents...

Related subjects