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 |
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 |
Changes in Airway Microbiome and Inflammation with Ivacaftor Treatment in Patients with Cystic Fibrosis and the G551D Mutation.
|
31604026 |
2020 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Generally, p.Arg117His-5T patients had more severe CF disease.
|
30279124 |
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 |
rs397508731
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Ten patients were studied, seven had five pathogenic mutations without previous description in Brazil (Q1100P, Y109C, A107P, E1409K and K162E), one of which has not yet been reported in patients with CF (A107P).
|
30232781 |
2018 |
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 |
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 |
rs76879328
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The Q359K/T360K mutation causes cystic fibrosis in Georgian Jews.
|
30033373 |
2018 |
rs75053309
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In our cohort, the Q359K/T360K mutation resulted in a severe CF phenotype, although with residual early CFTR function.
|
30033373 |
2018 |
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.
|
29924856 |
2018 |
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 |
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 |
rs186089140
|
|
|
0.010 |
GeneticVariation |
BEFREE |
S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein.
|
29298718 |
2018 |