Marijuana Abuse
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
This study provides the first evidence that THC present in marijuana reduces the expression and function of CFTR in airway epithelial cells.
|
29928919 |
2018 |
Neurofibromatosis 1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our proof-of-principle results point out a high accuracy for early detection of paternal NF1 and CFTR mutations in cell-free DNA, and open new perspectives for extending the technology to NIPD of many other monogenic diseases.
|
29613853 |
2018 |
Hypochloremic alkalosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein.
|
29298718 |
2018 |
Adenocarcinoma of lung (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
In the present study, we aimed to interrogate the impact of cystic fibrosis transmembrane conductance regulator on the nicotine-promoted progressive potency in lung adenocarcinoma cells by assessing capacities of cystic fibrosis transmembrane conductance regulator to cell migration, invasion, and clonogenicity and the expression of markers of cell proliferation and lung stem cell-related transcription factors in lung adenocarcinoma A549 cells.
|
30384810 |
2018 |
Esophageal carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We conclude that CFTR inhibits the growth and migration of esophageal cancer cells by downregulating of the NF-κB protein expression.
|
30358020 |
2018 |
Caffeine related disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Further, the results from the Ussing chamber assay indicated that caffeine promoted Cl- secretion through enterocyte apical cystic fibrosis transmembrane conductance regulator (CFTR), and thus inhibited sodium absorption.
|
29558753 |
2018 |
Watery diarrhoea
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In conclusion, EspP stimulates colonic CFTR-independent active ion transport and may be involved in the pathophysiology of EHEC diarrhea.Serine protease toxins from <i>E. coli</i> pathogens appear to serve as enterotoxins, potentially significantly contributing to watery diarrhea.
|
30200426 |
2018 |
congenital obstruction
|
0.010 |
Biomarker
|
disease |
BEFREE |
Cystic fibrosis transmembrane conductance regulator gene evaluation in case of suspicion for incomplete congenital obstruction of the genital tract.
|
30134082 |
2018 |
Fibrosis of bile duct
|
0.010 |
Biomarker
|
disease |
BEFREE |
Liver disease in cystic fibrosis has many causes, with biliary fibrosis due to abnormal CFTR protein predominating.
|
29933897 |
2018 |
Malignant neoplasm of esophagus
|
0.010 |
Biomarker
|
disease |
BEFREE |
We conclude that CFTR inhibits the growth and migration of esophageal cancer cells by downregulating of the NF-κB protein expression.
|
30358020 |
2018 |
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
As one of the most important anion channels in organisms, cystic fibrosis transmembrane conductance regulator (CFTR) is proposed as a tumor suppressor in carcinogenesis and development of prostate cancer in recent studies.
|
30485539 |
2018 |
Hyperhomocysteinemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
In this study, CBS<sup>+/-</sup> mice were fed with regular diet for 12 weeks to establish a hyperhomocysteinemia (HHcy) model and HL-7702 cells were treated with Hcy, we found that Hcy increases autophagy and aggravates liver injury by downregulation of cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo and in vitro.
|
29415998 |
2018 |
Severe diarrhea
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Cholera toxin (CT) causes severe diarrhea by increasing intracellular cAMP leading to a PKA-dependent increase in Cl<sup>-</sup> secretion through CFTR and decreased Na<sup>+</sup> absorption through inhibition of Na<sup>+</sup>/H<sup>+</sup> exchanger 3 (NHE3; also known as SLC9A3).
|
30030371 |
2018 |
Liver Disease Associated with Cystic Fibrosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Novel therapeutic agents such as CF transmembrane conductance regulator (CFTR) modulators and potentiators are encouraging but need to be evaluated specifically in CFLD.
|
29438119 |
2018 |
Cystic fibrosis in children
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Ivacaftor treatment of cystic fibrosis in children aged 12 to <24 months and with a CFTR gating mutation (ARRIVAL): a phase 3 single-arm study.
|
29886024 |
2018 |
Endometriosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Collectively, the present results suggest that the CFTR-NFκB-uPAR signaling may contribute to the progression of human endometriosis, and indicate potential targets for diagnosis and treatment.
|
28978008 |
2017 |
Ureteral obstruction
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Here, we report that CFTR expression is downregulated in the UUO (unilateral ureteral obstruction)-induced kidney fibrosis mouse model and human fibrotic kidneys.
|
28701694 |
2017 |
Vitamin K Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, not liver cirrhosis, but the presence of a F508del CFTR mutation constitutes an independent risk factor for vitamin K deficiency.
|
28185838 |
2017 |
Renal fibrosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Taken together, our study reveals a novel mechanism by which CFTR regulates Wnt/β-catenin signaling pertinent to progression of kidney fibrosis and indicates a potential treatment target.
|
28701694 |
2017 |
Allergic asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
New evidence suggests that CFTR dysfunction may play a role in other common airways diseases such as COPD, non-atopic asthma and non-CF bronchiectasis.
|
29132121 |
2017 |
Hyperandrogenism
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Abnormal glucose levels are often seen in cystic fibrosis (CF), a systematic disease caused by mutations of the CF transmembrane conductance regulator (CFTR), and in polycystic ovarian syndrome (PCOS), an endocrine disorder featured with hyperandrogenism affecting 5-10% women of reproductive age.
|
29204121 |
2017 |
Erectile dysfunction
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Inhibitors of phosphodiesterase 5 (PDE5) - sildenafil citrate (Viagra; Pfizer) and vardenafil hydrochloride (Levitra; Bayer/GlaxoSmithKline) - approved for the treatment of erectile dysfunction and pulmonary arterial hypertension also rescue the loss of cystic fibrosis (CF) chloride channel function and the mislocalization of F508del-CFTR in affected tissues in CF.
|
28533270 |
2017 |
Impaired glucose tolerance
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The results reveal that by potentiating KATP channels, CFTR acts as a glucose-sensing negative regulator of glucagon secretion in α cells, a defect of which may contribute to glucose intolerance in CF and other types of diabetes.
|
28977595 |
2017 |
Absence of sensation
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Based on our data, we can conclude: 1) HNEC brushing is performed without anaesthesia and is well tolerated in all CF patients (children and adults); 2) HNECs can be preserved for up to 48 hours before culture allowings multicentre studies; 3) HNECs culture can be considered a suitable model to study the molecular effects of new CFTR gene mutations and/or uncertain meaning specific mutations of carriers; 4) an ex vivo model of HNECs may be used to evaluate, before human use, the effect of new drugs on patients' cells bearing specific CFTR mutations; 5) the methodology is adequate for a quantitative measurement, by fluorescence, of the CFTR gating activity of the HNECs from patients with different genotypes identifying: a) CF patients bearing two severe mutations with an activity < 10% (compared to controls - 100%); b) CF patients bearing at least a mild mutation with an activity of 10-20%; c) CF carriers (heterozygous subjects) with an activity between 40-70%.
|
27897275 |
2017 |
Endometrial Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RESULTS Compared with cells from normal endometrium, the expression of CFTR was significantly upregulated in endometrial carcinoma cells.
|
28225751 |
2017 |