Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE It has been suggested that a mutation (G551D) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may play a role in nasal polyp formation in patients without CF. 10392242

1999

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE We also showed a similar pharmacological effect in nasal cells freshly isolated from a delF508/G551D CF patient. 11739639

2001

dbSNP: rs75527207
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

dbSNP: rs75527207
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

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Several compounds, the most potent being a trifluoromethylphenylbenzamine, activated the CF-causing mutant G551D, but with much weaker affinity (K(d) > 10 microm). 12161441

2002

dbSNP: rs75527207
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

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The class III CF mutations G551D and G1349D are located within the "signature" sequence LSGGQ and LSHGH of NBD1 and NBD2, respectively. 15163550

2004

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The present study characterized in a sample of patients with an established clinical diagnosis of CF (asthma, repeated bronchopneumonia, disorders of nutritional status, etc.) the most frequent mutation (deltaF508) in the North region of Brazil and is also the first report of the G551D mutation. 15665983

2005

dbSNP: rs75527207
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

dbSNP: rs75527207
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

dbSNP: rs75527207
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

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE VX-770 also increased Cl(-) secretion in cultured human CF bronchial epithelia (HBE) carrying the G551D gating mutation on one allele and the F508del processing mutation on the other allele by approximately 10-fold, to approximately 50% of that observed in HBE isolated from individuals without CF. 19846789

2009

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The CF-associated mutation G551D, by introducing a bulky and negatively charged side chain into site 2, completely abolishes ATP-induced openings of CFTR. 20861014

2010

dbSNP: rs75527207
rs75527207
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

dbSNP: rs75527207
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

dbSNP: rs75527207
rs75527207
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

dbSNP: rs75527207
rs75527207
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

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor (VX-770) is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that was approved in the United States for the treatment of cystic fibrosis (CF) in patients ≥ 6 years of age who have a G551D mutation; however, the most prevalent disease-causing CFTR mutation, F508del, causes a different functional defect. 22383668

2012

dbSNP: rs75527207
rs75527207
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

dbSNP: rs75527207
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

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE A CFTR potentiator in patients with CF and the G551D mutation.N. Engl.J.Med., 2011.365: 1663-1672.)]. 22914736

2012

dbSNP: rs75527207
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

dbSNP: rs75527207
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

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE This randomized, double-blind, placebo-controlled trial evaluated ivacaftor in patients with cystic fibrosis aged 6-11 years with a G551D-CFTR mutation on at least one allele. 23590265

2013

dbSNP: rs75527207
rs75527207
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