rs80034486
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Rescue of NBD2 mutants N1303K and S1235R of CFTR by small-molecule correctors and transcomplementation.
|
25799511 |
2015 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
|
25981758 |
2015 |
rs80034486
|
|
|
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
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
|
23891399 |
2014 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
|
25431289 |
2014 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
|
24014130 |
2014 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
|
23951356 |
2013 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
|
22658665 |
2012 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.
|
22475884 |
2012 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis.
|
21422883 |
2011 |
rs80034486
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
|
21520337 |
2011 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax.
|
20675678 |
2010 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
|
20605539 |
2010 |
rs80034486
|
|
|
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 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
|
20008117 |
2010 |
rs80034486
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.
|
19914445 |
2009 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.
|
19914443 |
2009 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs80034486
|
|
|
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 |