|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.
|
29924856 |
2018 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
NB124 treatment rescued CFTR function in a CF mouse model expressing a human CFTR-G542X transgene; efficacy was superior to gentamicin and exhibited favorable pharmacokinetic properties, suggesting that in vitro results translated to clinical benefit in vivo.
|
24251786 |
2014 |
|
rs113993959
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model.
|
19136563 |
2009 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%).
|
19715466 |
2009 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Using a mouse model for cystic fibrosis (CF), we show that s.c. injection or oral administration of PTC124 to Cftr-/- mice expressing a human CFTR-G542X transgene suppressed the G542X nonsense mutation and restored a significant amount of human (h)CFTR protein and function.
|
18272502 |
2008 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The present study reports the genetic analysis of a family with different clinical forms of CF and addresses the difficulty of CF diagnosis in an individual with mutant alleles G542X and R117H because of the variable phenotype associated with R117H mutation.
|
18078365 |
2008 |
|
rs113993959
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
|
15371902 |
2005 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
For counseling purposes the two most frequent mutations in Argentine CF population: deltaF508 and G542X were screened in wives.
|
15239534 |
2004 |
|
rs113993959
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.
|
12767731 |
2003 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Consistent with reports that premature stop codon mutations (class I; e.g., G542X) can be read over by treatment with aminoglycoside antibiotics, exposure of CF cholangiocytes to gentamicin restored activation by cAMP of Cl(-) current and HCO3- secretion.
|
11786964 |
2002 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed.
|
9591500 |
1998 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our current strategy for molecular diagnosis of CF in the Spanish population is based, as a first step, on direct analysis for the two most frequent mutations (delta F508 and G542X) and indirect analysis using the intragenic markers IVS8CA, IVS17BTA, and IVS17BCA.
|
8710774 |
1996 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-specific hybridization and, in addition, analyzed exons 4, 5, 7, 8, 10, 11, 17b, 19, 20 and 21 using the method of denaturing gradient gel electrophoresis (DGGE).
|
7544320 |
1995 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The G542X mutation was found on 5% (7/129) of CF chromosomes.
|
7509564 |
1994 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness.
|
7504691 |
1993 |
|
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
|
1757966 |
1991 |