rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx.
|
25712891 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
|
8605891 |
1996 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
A CFTR potentiator in patients with CF and the G551D mutation.N. Engl.J.Med., 2011.365: 1663-1672.)].
|
22914736 |
2012 |
rs75527207
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
After several successful clinical trials the potentiator, ivacaftor, is now licenced for use in adults and children (>six years), with CF bearing the class III G551D mutation and FDA licence was recently expanded to include 8 additional class III mutations.
|
24932877 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Alterations in blood leukocytes of G551D-bearing cystic fibrosis patients undergoing treatment with ivacaftor.
|
25769931 |
2016 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although ivacaftor (VX-770) alone and ivacaftor in combination with lumacaftor (VX-809) improve lung function in CF patients with the Gly551Asp and del508Phe mutations, respectively, the effects of these drugs on the function of human CF macrophages are unknown.
|
29146575 |
2018 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although ivacaftor is currently only licensed for use in approximately 5% of the CF population (those who have at least one Gly551Asp mutation), the developmental pathway established by ivacaftor paves the way for other CFTR modulators that may benefit many more patients.
|
24039402 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D).
|
25363320 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Changes in Airway Microbiome and Inflammation with Ivacaftor Treatment in Patients with Cystic Fibrosis and the G551D Mutation.
|
31604026 |
2020 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor.
|
27659740 |
2017 |
rs75527207
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Combined with the concentration-dependent decrease in sweat chloride concentration, results show that GLPG1837 increases CFTR activity in G551D-CF patients.
|
31147302 |
2019 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Curcumin cross-linked two CF mutant channels (Delta F508 and G551D) as well as a variety of deletion constructs that lack the major cytoplasmic domains.
|
19740743 |
2009 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent.
|
19734299 |
2009 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States.
|
25682022 |
2016 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation.
|
23757359 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Extensive medicinal chemistry and iterative structure-activity relationship (SAR) studies to evaluate potency, selectivity, and pharmacokinetic properties resulted in the identification of N-(2,4-di-tert-butyl-5-hydroxyphenyl)-4-oxo-1,4-dihydroquinoline-3-carboxamide (VX-770, 48, ivacaftor), an investigational drug candidate approved by the FDA for the treatment of CF patients 6 years of age and older carrying the G551D mutation.
|
25441013 |
2014 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
For adults and children aged 6 years and older with CF due to gating mutations other than G551D or R117H, the guideline panel made a conditional recommendation for treatment with IVA.
|
29342367 |
2018 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
In contrast, a CF-causing mutation that does not impair CFTR processing (G551D) had no effect on NBD1 dimerization.
|
12080183 |
2002 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
In people with CF bearing G551D or R117H mutations, ivacaftor did not change the average ASL pH; however reductions in sweat Cl- concentration correlated with elevations of ASL pH.
|
30089726 |
2018 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
In the era of personalised medicine, ivacaftor offers an effective and well-tolerated treatment for the clinical management of CF patients with the G551D mutation.
|
23457167 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this study, we provide the first evidence that ivacaftor improves BMD in CF patients carrying the p.Gly551Asp mutation.
|
27745802 |
2016 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Interestingly, three CF samples for which one mutant allele remained undefined (deltaoff8/unknown or G551D/unknown) demonstrated no statistical difference in the level of sulfation as compared with matched non-CF controls (n= 3).
|
8675672 |
1995 |