|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
To determine the frequency of six mutations (F508del, G542X, G551D, R553X, R1162X, and N1303K) in patients with cystic fibrosis (CF) diagnosed, at a referral center, on the basis of abnormal results in two determinations of sweat sodium and chloride concentrations.
|
24310628 |
2014 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K.
|
15357568 |
2004 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
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 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject.
|
31776420 |
2019 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Deletion of Phe<sup>508</sup> (ΔF508), the most prevalent mutation in CF, and other mutations in CFTR that impair its trafficking, such as N1303K, also led to quantitative and qualitative PTM changes that prevented the maturation of misfolded CFTR.
|
30600261 |
2019 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Eleven CRS patients were found to have a CF mutation (DeltaF508, n = 9; G542X, n = 1; and N1303K, n = 1).
|
11025834 |
2000 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The CFTR genotype N1303K/IVS8-5T can cause very mild cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD).
|
17127107 |
2007 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF.
|
28655774 |
2017 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The most common CF mutations, delta F508, G542X, and N1303K, showed the highest number of slippage events at microsatellites, suggesting that they are the most ancient CF mutations.
|
8844213 |
1996 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
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 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
|
1380943 |
1992 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Three mutations, delta F508 (37.5%), W1282X (15.6%), and N1303K (9.4%) accounted for 62.5% of CF alleles.
|
9254864 |
1997 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We investigate whether the (paternal) M348K mutation is a benign polymorphism or a disease-causing mutation in a patient clinically affected with CF, with the second (maternal) CFTR allele identified as N1303K.
|
15614862 |
2004 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe.
|
1372094 |
1992 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3,849 + 10kbC --> T. Eight novel mutations were identified.
|
10834512 |
2000 |
|
rs80034486
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K.
|
1718974 |
1991 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations.
|
7532150 |
1995 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T).
|
30269055 |
2019 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
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 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.
|
7680769 |
1993 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
We demonstrated that GCC agonism results in functional rescue of murine F508del/F508del and R117H/R117H Cftr and CFTR mutants in CF patient-derived intestinal spheres.
|
28978796 |
2017 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation.
|
15997883 |
2005 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Generally, p.Arg117His-5T patients had more severe CF disease.
|
30279124 |
2019 |
|
rs78655421
|
|
Cystic Fibrosis
|
|
0.900 |
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 |