CFTR Mutations
Impact of heterozygote CFTR Mutations in COPD patients with Chronic Bronchitis
... one CFTR mutation ...able CFTR mutations that cause intermediate pheno- typic ...for CFTR muta- tions [10,11], and a similar association has been made for congenital bilateral absence of the ...
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Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
... by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) ...the mutations in the CFTR gene in two Iranian families with ...common mutations was tested by PCR, ...
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What can the CF registry tell us about rare CFTR-mutations? A Belgian study
... ‘rare CFTR mutation’ (RM) can be found in the literature. We deem that all CFTR mutations not described in CFTR2 could be con- templated as a ...CF, CFTR-RD (CFTR-related disorder) or ...
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Cystic Fibrosis: Channeling the Discovery of CFTR Mutations
... class mutations associated with CF, the most common form being the codon deletion of pheylalanine residue at position 508 from the NBD1 of the CFTR (Southern, ...of CFTR by inducing misfolding ...
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PubMedCentral-PMC4751594.pdf
... of CFTR mutations proved to be invaluable for development of small-molecule com- pounds targeting the underlying defect(s) in ...some CFTR variants carrying class III or IV mutations can be ...
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Increased Prevalence of Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator in Children With Chronic Rhinosinusitis
... of CFTR mutations in a sample population of children who have chronic rhinosinusitis and do not meet diagnostic criteria for ...that mutations that affect the CFTR gene may ...
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Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients
... Sixty-two CF patients registered at the Pediatric Respiratory Disease Research Center in Masih Daneshvari Hospital in Tehran were evaluated for the 11 most common CFTR mutations as well as poly-T ...
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Pluripotent stem cells for disease modeling and drug screening: new perspectives for treatment of cystic fibrosis?
... trafficking mutations, novel compounds have to be ...of CFTR correctors, potentiators, and molecules that prevent an excessive turnover of mutant proteins will be required ...specific CFTR ...
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Activation of NF kappaB by adherent Pseudomonas aeruginosa in normal and cystic fibrosis respiratory epithelial cells
... mutant CFTR in the ER would be sufficient to stimulate the translocation of NF- k B ...with CFTR mutations was not a global re- sponse, but limited to NF- k B was also anticipated by these published ...
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'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
... evaluate CFTR at a physiologic level, and screening for mild and rare CFTR mutations ...the CFTR gene), on the other ...mature CFTR may be less than that in CBAVD, with adverse ...
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Nutrition in cystic fibrosis
... function can decline throughout the first years of life. Pancreatic sufficient (PS) patients should be reevaluated annually for the progression to PI, especially if genetic testing reveals two CFTR ...
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PubMedCentral-PMC5148144.pdf
... of CFTR-targeted therapies, is critically important to deliver the right care to the right patient and to assess its effects ...to CFTR genotype ...of CFTR mutations (19, 20). However, ...
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A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population
... of CFTR gene mutations in males with various types of abnormal sperm parameters by Ślęzak et ...13 CFTR gene mutations. The frequency of mutations was significantly higher than the ...
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Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?
... two CFTR mutations Class I, II and/or III, in comparative analysis, there was a positive association with: (i) sweat chloride/sodium ratio ( p < ...
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1-s2.0-S1525001620302033-main.pdf
... for CFTR gene editing in CF airway basal cells pursued by this study are shown in Figure ...endogenous CFTR locus re- flects an intent to achieve expression of the corrected CFTR gene at close to ...
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CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations
... different CFTR mutation panel that may include one or a few common founder ...two CFTR mutations, R334W, K710X, may be specific to the culturally homogenous Kurdish ...identified mutations ...
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Population-Based Newborn Screening for Genetic Disorders When Multiple Mutation DNA Testing Is Incorporated: A Cystic Fibrosis Newborn Screening Model Demonstrating Increased Sensitivity but More Carrier Detections
... We sought to compare the predictive values and sweat-test referral patterns of screening with single mutation ( ⌬ F508 alone) with those of screening with multiple-CFTR mutations. We also sought to evalu- ...
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Genetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis
... of CFTR function may be related to idiopathic and alcohol-related ...in CFTR and variants of SPINK1 was considerably higher in patients with ICP, compared with the control group ...that CFTR may be ...
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ΔF508 CFTR protein expression in tissues from patients with cystic fibrosis
... confirmed CFTR expres- sion patterns, the detection of CFTR immunoreactive signals in intracellular compartments of intestinal gob- let cells was quite unexpected, because the reduced chlo- ride and fluid ...
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Pharmacological Rescue of the Mutant Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Detected by Use of a Novel Fluorescence Platform
... by mutations in the gene encoding the CF transmembrane conductance regu- lator (CFTR ), an epithelial anion ...disrupts CFTR folding, which blocks its trafficking to the plasma ...mutant CFTR ...
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