rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G551D Observational Study enrolled a longitudinal observational cohort of US patients with CF aged 6 years and older with at least 1 copy of the G551D mutation.
|
25425629 |
2015 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation.
|
23457166 |
2013 |
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 |
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 |
Clinical studies in patients with cystic fibrosis and G551D-CFTR showed that the group treated with ivacaftor had improved clinical outcomes.
|
25755212 |
2015 |
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 |
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 |
We generated G551D CF mice transgenically expressing the human CFTR gene in two tissue compartments previously demonstrated to mediate a CFTR-dependent inflammatory response: lung epithelium and alveolar macrophages.
|
11978765 |
2002 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the era of personalised medicine, ivacaftor offers an effective and well-tolerated treatment for the clinical management of CF patients with the G551D mutation.
|
23457167 |
2013 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Curcumin cross-linked two CF mutant channels (Delta F508 and G551D) as well as a variety of deletion constructs that lack the major cytoplasmic domains.
|
19740743 |
2009 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent.
|
19734299 |
2009 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In contrast, a CF-causing mutation that does not impair CFTR processing (G551D) had no effect on NBD1 dimerization.
|
12080183 |
2002 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.
|
8605891 |
1996 |
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 |
The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551----Asp and Arg553----Stop in the cystic fibrosis transmembrane conductance regulator gene.
|
1376182 |
1992 |
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 |
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 |
Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations.
|
26996268 |
2017 |
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 |
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 |
Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D).
|
25363320 |
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 |
Interestingly, three CF samples for which one mutant allele remained undefined (deltaoff8/unknown or G551D/unknown) demonstrated no statistical difference in the level of sulfation as compared with matched non-CF controls (n= 3).
|
8675672 |
1995 |
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 |
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 |