|
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 |
Combined with the concentration-dependent decrease in sweat chloride concentration, results show that GLPG1837 increases CFTR activity in G551D-CF patients.
|
31147302 |
2019 |
|
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 |
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 |
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 |
|
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 |
|
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 |
|
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 |
|
rs77010898
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our approach suggests a new therapeutic strategy for patients harboring nonsense mutations and may be beneficial as a single agent in patients with CF and the W1282X mutation.
|
30836009 |
2019 |
|
rs386134230
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A novel mutation of CFTR, c.753_754delAG, was found in a Chinese CF child. c.2909G>A is the most common mutation among Chinese CF patients.
|
31423445 |
2019 |
|
rs397508702
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.
|
30408177 |
2019 |
|
rs78802634
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Complete sequencing of the CFTR gene by next generation sequencing (NGS) revealed two different variants in trans, including the previously reported CF-causing variant c.3266G > A (p.Trp1089*, W1089*), that was inherited from the mother, and the novel/de novo CFTR variant c.1762G > T (p.Glu588*).
|
31118044 |
2019 |
|
rs397508638
|
|
|
0.100 |
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 |
|
rs397508638
|
|
|
0.100 |
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 |
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 |
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 |
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 |
Recovery of lung function following a pulmonary exacerbation in patients with cystic fibrosis and the G551D-CFTR mutation treated with ivacaftor.
|
28651844 |
2018 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.
|
29924856 |
2018 |
|
rs397508453
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Finally, the structure of CFTR provides a better understanding of why the G178R, R352Q, L927P, and G970R/D mutations would impede conformational changes of CFTR and lead to cystic fibrosis.
|
30459277 |
2018 |