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rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Options for pharmacological correction of CFTR-p.Phe508del (F508del) are being extensively studied but correction of other trafficking mutants that may also benefit from corrector treatment remains largely unknown.We studied correction of the folding mutants CFTR-p.Phe508del, -p.Ala455Glu (A455E) and -p.Asn1303Lys (N1303K) by VX-809 and 18 other correctors (C1-C18) using a functional CFTR assay in human intestinal CF organoids.Function of both CFTR-p.Phe508del and -p.Ala455Glu was enhanced by a variety of correctors but no residual or corrector-induced activity was associated with CFTR-p.Asn1303Lys.
|
27103391 |
2016 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Because most commercial kits and laboratory-developed tests for CF c</span>arrier screening involve a short amplicon encompassing this mutation, this finding suggests that individuals with the c.1364C>A (p.A455E) mutation may require further investigation to avoid a false assignment of CF carrier status.
|
25956447 |
2015 |
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rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype.
|
22390181 |
2012 |
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rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Analysis of cystic fibrosis-associated missense mutations in the first nucleotide binding domain (NBD1), including A455E, S549R, Y563N, and P574H, revealed reduced levels of mature CFTR with elevated levels of carboxyl-terminal polypeptide fragments of 105 and 90 kDa.
|
10764788 |
2000 |
|
rs74551128
|
|
|
0.880 |
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 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
The geographical distribution of the birth places of the patients and obligate carriers of the 621 + 1G-->T, the A455E and the delta F508 mutations (which accounted for 89% of the CF chromosomes) showed differences that can be explained by some degree of isolation but also by differential migration.
|
8886242 |
1997 |
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rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM.
|
8707298 |
1996 |
|
rs74551128
|
|
|
0.880 |
GeneticVariation |
BEFREE |
A455E is a common mutation causing cystic fibrosis in the Netherlands.
|
7539891 |
1995 |