|
rs75527207
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
The three major CF mutations in Northern Ireland are delta F508, G551D, and R117H with respective frequencies of 68.0%, 5.1%, and 4.1%.
|
8956039 |
1996 |
|
rs75527207
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
|
12167682 |
2002 |
|
rs75527207
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
|
7683628 |
1993 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We conclude that G551D- and G1349D-CFTR have distinct pharmacological profiles and speculate that drug therapy for CF is likely to be mutation-specific.
|
16311240 |
2006 |
|
rs75527207
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
|
7524909 |
1994 |
|
rs75527207
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx.
|
25712891 |
2015 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Ivacaftor was approved by the Food and Drug Administration (FDA) to be taken orally at a dose of 150 mg twice a day in G551D CF patients older than 6 years.
|
22739718 |
2012 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) is a common cause of cystic fibrosis (CF).
|
21441077 |
2011 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
|
8723693 |
1996 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
|
1695717 |
1990 |
|
rs75527207
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
|
9452073 |
1998 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G551D mutation is reasonably common in the CF patient population and produces a CFTR protein that localizes normally to the plasma membrane, but fails to open in response to cellular cues.
|
24004658 |
2013 |
|
rs75527207
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Alterations in blood leukocytes of G551D-bearing cystic fibrosis patients undergoing treatment with ivacaftor.
|
25769931 |
2016 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The potentiator VX-770 (ivacaftor/KALYDECO™) targets defective gating of CFTR and has been approved for treatment of cystic fibrosis (CF) subjects carrying G551D, S1251N or one of 8 other mutations.
|
27160424 |
2016 |
|
rs75527207
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |