Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
This method for analyzing incident infections may be useful for future studies of CFTR modulators and bacterial acquisition in CF registry cohorts.
|
31012285 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There was no difference in phagolysosomal pH between healthy control and CF macrophages (5.41 ± 0.11 vs. 5.41 ± 0.20, p > .9999), further confirmed by inhibiting Cystic Fibrosis Transmembrane Conductance Regulator in healthy control monocyte-derived macrophages.
|
31501051 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
ASO treatment further increased CFTR function in almost all CF genotypes tested on top of treatment with the FDA approved drug Symdeko (ivacaftor and tezacaftor).
|
31351782 |
2019 |
Cystic Fibrosis
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The airway surface liquid height is regulated by transpeithelial Na<sup>+</sup> absorption (ENaC) and Cl<sup>-</sup> secretion (CFTR) in normal airway but mainly by ENaC activity in CF epithelia when Cl<sup>-</sup> secretion is compromised by CFTR mutations.
|
31344409 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This multi-centre, exploratory, open-label study recruited adults with CF homozygous or compound heterozygous for the F508del-CFTR mutation.
|
30467074 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In all patients with cystic fibrosis (CF), gastrointestinal (GI) tract CF transmembrane conductance regulator dysfunction occurs early in life.
|
30640865 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Traditionally, CF has been symptomatically managed, but over the past 6 years those with CF have been offered a new mode of therapy; CFTR protein modulation.
|
31027466 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis is a fatal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR).
|
31221859 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
The cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel is dysfunctional in CF, leading to defects in epithelial transport.
|
30761000 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Owing to similarities between chronic bronchitis and the autosomal-recessive disease Cystic Fibrosis (CF), a significant body of research addresses the hypothesis that dysfunctional CF Transmembrane Conductance Regulator (CFTR) is implicated in the pathogenesis of COPD.
|
31477092 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Acute Recurrent and Chronic Pancreatitis as Initial Manifestations of Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders.
|
31268981 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Importantly, stimulation of CFTR function with a pharmacological potentiator (Ivacaftor), which is approved for the treatment of CF, could attenuate the autophagy-inhibition and pro-inflammatory effects of gliadin in preclinical models of CD.
|
31321000 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The deletion of phenylalanine at position 508 of the protein (F508del-CFTR) is the most common mutation observed in CF patients.
|
31749908 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we performed a clinical characterization of, and genetic analysis of CFTR in, Korean patients with cystic fibrosis.
|
31136843 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have already seen some success in paediatrics in targeted therapies such as cystic fibrosis for specific cystic fibrosis transmembrane conductance regulator variants.
|
30266876 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
In vitro, eluforsen improved chloride efflux in CF pancreatic adenocarcinoma cell cultures and increased short-circuit current in primary human bronchial epithelial cells, both indicating restoration of CFTR function.
|
31251792 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because small synthetic transmembrane anion transporters (anionophores) can replace the biological anion transport mechanisms, independent of genetic mutations in the CFTR, such anionophores are candidates as new potential treatments for CF.
|
30825185 |
2019 |
Cystic Fibrosis
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
|
30146269 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We use multi-DDM to assess the efficacy of different CFTR-modulating drugs in human airway epithelial cells derived from subjects with cystic fibrosis (ΔF508/ΔF508 and ∆F508/-) based on ciliary beat frequency and coordination.
|
30992452 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cystic fibrosis (CF) is an autosomal recessive disorder, caused by genetic mutations in CF transmembrane conductance regulator protein.
|
31507425 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The combination of lumacaftor and ivacaftor (LUM/IVA) is a recently approved CFTR modulator treatment for homozygous F508del CF patients.
|
31676345 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
The cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel central to the development of secretory diarrhea and cystic fibrosis.
|
31679858 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results suggest that CFTR dysfunction associates with an enhanced sphingolipid metabolism leading to the release of EVs that export the excess of pro-inflammatory Cer to the recipient cells, thus contributing to maintain the unresolved inflammatory status of CF.
|
31563560 |
2019 |
Cystic Fibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
This unexpected interface rearrangement is likely to have major relevance for CF pathogenesis but also for the normal function of CFTR and other ABC proteins.
|
31201318 |
2019 |
Cystic Fibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A cross-sectional observational study was conducted on induced sputum samples from children with CF and known mutation in the CFTR gene.
|
30827333 |
2019 |