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 |
Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, is approved for the treatment of patients with cystic fibrosis aged 6 years or older with Gly551Asp-CFTR.
|
25311995 |
2014 |
rs75527207
|
|
Cystic Fibrosis
|
|
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
|
|
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 |
The potentiator ivacaftor (VX-770) is approved for treating CF patients with G551D and other gating mutations.
|
27707539 |
2017 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator ivacaftor (Kalydeco®) improves clinical outcome in G551D cystic fibrosis (CF) patients.
|
28445004 |
2017 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
It has been suggested that a mutation (G551D) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may play a role in nasal polyp formation in patients without CF.
|
10392242 |
1999 |
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 |
Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx.
|
25712891 |
2015 |
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 |
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
This randomized, double-blind, placebo-controlled trial evaluated ivacaftor in patients with cystic fibrosis aged 6-11 years with a G551D-CFTR mutation on at least one allele.
|
23590265 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D.
|
27402691 |
2016 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Several compounds, the most potent being a trifluoromethylphenylbenzamine, activated the CF-causing mutant G551D, but with much weaker affinity (K(d) > 10 microm).
|
12161441 |
2002 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
STRIVE, a double-blind, placebo-controlled randomized trial, evaluated ivacaftor (150 mg) in CF patients aged 12+ with the G551D-CFTR mutation for 48 weeks.
|
26135562 |
2015 |
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 |
The marked success of ivacaftor both in clinical trials and in post-licensing evaluation studies in treating patients with G551D and other gating mutations has greatly encouraged the ongoing development of similar therapies that can directly target the underlying cause of CF.
|
26091951 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Patients with CF and G551D mutation, within 6 months of starting ivacaftor had significant improvements in weight, BMI and mean % FEV1.
|
25145599 |
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 |
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Ivacaftor has been previously assessed in patients with cystic fibrosis with Gly551Asp-CFTR or other gating mutations.
|
26070913 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Ivacaftor produces significant clinical benefit in patients with cystic fibrosis (CF) with the G551D mutation.
|
29037527 |
2018 |
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 |
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 |