|
rs75527207
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We report the results of an observational study investigating its effects in CF patients with non-G551D gating mutations.
|
29685811 |
2019 |
|
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 |
Ivacaftor improves QOL in the R, P, and S domains in G551D CF patients, although QOL instruments validated for CRS may not translate well to CF CRS patients because symptom burden was surprisingly low.
|
30472785 |
2019 |
|
rs75527207
|
|
|
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T).
|
30269055 |
2019 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Generally, p.Arg117His-5T patients had more severe CF disease.
|
30279124 |
2019 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T - a case report.
|
30975115 |
2019 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms.
|
31296159 |
2019 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Deletion of Phe<sup>508</sup> (ΔF508), the most prevalent mutation in CF, and other mutations in CFTR that impair its trafficking, such as N1303K, also led to quantitative and qualitative PTM changes that prevented the maturation of misfolded CFTR.
|
30600261 |
2019 |
|
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject.
|
31776420 |
2019 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recovery of lung function following a pulmonary exacerbation in patients with cystic fibrosis and the G551D-CFTR mutation treated with ivacaftor.
|
28651844 |
2018 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Retrospective observational study of French patients with cystic fibrosis and a Gly551Asp-CFTR mutation after 1 and 2years of treatment with ivacaftor in a real-world setting.
|
28711222 |
2018 |
|
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 |
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 |
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
|
|
|
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 |
Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations.
|
26996268 |
2017 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This study analyzed plasma fatty acid levels and urine prostaglandin E metabolites (PGE-M) in 40 subjects with CF participating in the G551D observational (GOAL) study who demonstrated response to the medication by a significant decrease in sweat Cl levels.
|
27473897 |
2017 |
|
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 |
BEFREE |
The potentiator ivacaftor (VX-770) is approved for treating CF patients with G551D and other gating mutations.
|
27707539 |
2017 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This pilot study evaluated the effect of short- and long-term ivacaftor treatment on hyperpolarized <sup>3</sup>He-magnetic resonance imaging (MRI)-defined ventilation defects in patients with cystic fibrosis aged ≥12years with a G551D-CFTR mutation.
|
28132845 |
2017 |
|
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Previous work indicates that ivacaftor improves cystic fibrosis transmembrane conductance regulator (CFTR) activity and lung function in people with cystic fibrosis and G551D-CFTR mutations but does not reduce density of bacteria or markers of inflammation in the airway.
|
28222269 |
2017 |
|
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 |
|
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We demonstrated that GCC agonism results in functional rescue of murine F508del/F508del and R117H/R117H Cftr and CFTR mutants in CF patient-derived intestinal spheres.
|
28978796 |
2017 |