|
rs75527207
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
|
8829633 |
1996 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We also showed a similar pharmacological effect in nasal cells freshly isolated from a delF508/G551D CF patient.
|
11739639 |
2001 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We conducted a randomized, double-blind, placebo-controlled trial to evaluate ivacaftor (VX-770), a CFTR potentiator, in subjects 12 years of age or older with cystic fibrosis and at least one G551D-CFTR mutation.
|
22047557 |
2011 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations.
|
26996268 |
2017 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
|
16822950 |
2007 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection.
|
20381036 |
2010 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
|
15528182 |
2005 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D</span> leading to the approval of ivacaftor as a novel CF therapy [1].
|
25698453 |
2015 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.
|
24440239 |
2014 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
One drug, ivacaftor, was recently approved by the US Food and Drug Administration for the approximately 4% of patients with CF who have the G551D gating mutation.
|
22723294 |
2012 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation.
|
23757359 |
2013 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G551D CFTR mutation is the third most common CF disease-causing mutation, in which the CFTR protein localizes to the epithelial cell membrane but has defective gating.
|
23616952 |
2013 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
She was found to have a mutation in the SPINK1 gene, IVS3+184T>A, and one cystic fibrosis-causing mutation (G551D) prompting full gene sequencing of the CFTR, revealing an additional duplication of exon 19.
|
21673536 |
2011 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
|
20150177 |
2010 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
|
8406518 |
1993 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Ivacaftor in a G551D homozygote with cystic fibrosis.
|
24066763 |
2013 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study).
|
21083385 |
2010 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
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
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common mutations in CFTR are a deletion of a phenylalanine residue at position 508 (ΔF508-CFTR, 70-80 % of CF phenotypes) and a Gly551Asp substitution (G551D-CFTR, 4-5 % of alleles), which lead to decreased or almost abolished Cl(-) channel function, respectively.
|
26874684 |
2016 |
|
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
|
2236053 |
1990 |
|
rs75527207
|
|
Cystic Fibrosis
|
|
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 |