|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We also showed a similar pharmacological effect in nasal cells freshly isolated from a delF508/G551D CF patient.
|
11739639 |
2001 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We conducted a randomized, double-blind, placebo-controlled trial to evaluate ivacaftor (VX-770), a CFTR potentiator, in subjects 12 years of age or older with cystic fibrosis and at least one G551D-CFTR mutation.
|
22047557 |
2011 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations.
|
26996268 |
2017 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
|
15528182 |
2005 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D</span> leading to the approval of ivacaftor as a novel CF therapy [1].
|
25698453 |
2015 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation.
|
23457166 |
2013 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
One drug, ivacaftor, was recently approved by the US Food and Drug Administration for the approximately 4% of patients with CF who have the G551D gating mutation.
|
22723294 |
2012 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation.
|
23757359 |
2013 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G551D CFTR mutation is the third most common CF disease-causing mutation, in which the CFTR protein localizes to the epithelial cell membrane but has defective gating.
|
23616952 |
2013 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
She was found to have a mutation in the SPINK1 gene, IVS3+184T>A, and one cystic fibrosis-causing mutation (G551D) prompting full gene sequencing of the CFTR, revealing an additional duplication of exon 19.
|
21673536 |
2011 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical studies in patients with cystic fibrosis and G551D-CFTR showed that the group treated with ivacaftor had improved clinical outcomes.
|
25755212 |
2015 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study).
|
21083385 |
2010 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We generated G551D CF mice transgenically expressing the human CFTR gene in two tissue compartments previously demonstrated to mediate a CFTR-dependent inflammatory response: lung epithelium and alveolar macrophages.
|
11978765 |
2002 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most common mutations in CFTR are a deletion of a phenylalanine residue at position 508 (ΔF508-CFTR, 70-80 % of CF phenotypes) and a Gly551Asp substitution (G551D-CFTR, 4-5 % of alleles), which lead to decreased or almost abolished Cl(-) channel function, respectively.
|
26874684 |
2016 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Additive improvement in G551D CFTR-mediated Cl<sup>-</sup> secretion suggests that resveratrol could enhance ivacaftor therapy in these patients and improve CF-related rhinosinusitis.
|
30152192 |
2019 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The class III CF mutations G551D and G1349D are located within the "signature" sequence LSGGQ and LSHGH of NBD1 and NBD2, respectively.
|
15163550 |
2004 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
|
7543567 |
1995 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The potentiator Kalydeco™ (also known as Ivacaftor or VX-770), developed by Vertex Pharmaceuticals, has been recently approved by the US FDA and the European Medicines Agency (EMA) for the treatment of CF patients carrying at least one CFTR allele with the p.Gly551Asp mutation (2-5 % of all patients).
|
23757197 |
2013 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The CF-associated mutation G551D, by introducing a bulky and negatively charged side chain into site 2, completely abolishes ATP-induced openings of CFTR.
|
20861014 |
2010 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
|
9554753 |
1998 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Ivacaftor produces significant clinical benefit in patients with cystic fibrosis (CF) with the G551D mutation.
|
29037527 |
2018 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
|
8522333 |
1995 |