|
Acute pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No relationship was found between the detected mutations and severity of acute pancreatitis: mild acute pancreatitis, mutation of CFTR in 4 (2.8%) and CTRC in 2 (1.4%) patients; severe acute pancreatitis, mutation of CFTR and CTRC in 1 (2.6%) case each.
|
26100556 |
2015 |
|
Acute pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Having a variant from CFTR, SPINK1 or PRSS1, was associated with the faster progression from AP to CP over time (p < 0.05).
|
31088717 |
2019 |
|
Acute pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Further studies are warranted to evaluate the frequency and role of rare ('mild') CFTR gene point mutations in subjects suffering from severe acute pancreatitis.
|
12218938 |
2002 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the association of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) gene mutations and monocyte chemoattractant protein 1 (MCP-1) -2518A/G polymorphism with acute pancreatitis (AP), acute recurrent pancreatitis (ARP), and chronic pancreatitis (CP), and to associate genetic backgrounds with clinical phenotype in these three conditions.
|
19844201 |
2010 |
|
Acute recurrent pancreatitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Complete diagnostic testing for CFTR-RD in patients with ARP/CP will broaden treatment options and help to identify comorbid illness.
|
31268981 |
2019 |
|
Acute recurrent pancreatitis
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic and electrophysiological characteristics of recurrent acute pancreatitis.
|
25383785 |
2015 |
|
Acute recurrent pancreatitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis.
|
18360295 |
2008 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We assessed the CFTR gene in a young male patient with pancreas divisum and recurrent acute pancreatitis.
|
23416327 |
2013 |
|
Acute recurrent pancreatitis
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients.
|
25003218 |
2014 |
|
Acute recurrent pancreatitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
With CFTR modulators restoring some pancreatic function, CF clinicians should have increased vigilance for the development of ARP.
|
31420175 |
2019 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
|
20950468 |
2010 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Association of pancreas divisum and recurrent acute pancreatitis with the IVS8-5T-12TG allele of the CFTR gene and CFTR dysfunction.
|
17575549 |
2007 |
|
Acute recurrent pancreatitis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis.
|
31799301 |
2019 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
At least one CFTR mutation or variant was carried in 18 of 40 patients (45%) with idiopathic chronic pancreatitis and in 6 of 16 patients (38%) with idiopathic recurrent acute pancreatitis but in only 11 of the 50 controls (22%, P=0.005).
|
16193325 |
2005 |
|
Acute recurrent pancreatitis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Idiopathic chronic and acute recurrent pancreatitis (IP) have been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
12825076 |
2003 |
|
Acute respiratory distress
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.
|
27596159 |
2016 |
|
Acute upper respiratory infection
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Adamantinous Craniopharyngioma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Three mutations of CFTR were detected in four ACP patients with a prevalence (8.9%) not significantly different from that observed (3.0%) in ALD patients and from that expected (3.2%) in our geographical area.
|
12939655 |
2003 |
|
Adenocarcinoma
|
0.040 |
Biomarker
|
group |
LHGDN |
Cystic fibrosis transmembrane conductance regulator trafficking is mediated by the COPI coat in epithelial cells.
|
17932045 |
2008 |
|
Adenocarcinoma
|
0.040 |
Biomarker
|
group |
BEFREE |
As expected, genetic correction leads to the restoration of CFTR function in iPSC-derived proximal lung organoids, as well as in a patient-derived adenocarcinoma cell line CFPAC-1.
|
30852378 |
2019 |
|
Adenocarcinoma
|
0.040 |
AlteredExpression
|
group |
LHGDN |
MUC4 expression is regulated by cystic fibrosis transmembrane conductance regulator in pancreatic adenocarcinoma cells via transcriptional and post-translational mechanisms.
|
16799633 |
2007 |
|
Adenocarcinoma
|
0.040 |
Biomarker
|
group |
BEFREE |
Methylation of the CFTR gene was significantly greater in squamous cell carcinomas than in adenocarcinomas.
|
21585618 |
2011 |
|
Adenocarcinoma Of Esophagus
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis.
|
27527254 |
2016 |
|
Adenocarcinoma Of Esophagus
|
0.110 |
AlteredExpression
|
disease |
BEFREE |
The expression of CFTR were detected by qRT-PCR and Western blot in normal esophageal cell line, esophagus squamous cell, carcinoma cell lines, and EA cell lines, respectively.
|
30358020 |
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 |