|
Cardiomyopathies
|
0.010 |
Biomarker
|
group |
BEFREE |
The presence of the cystic fibrosis transmembrane conductance regulator (CFTR) in cardiac myocardia has prompted debate regarding possible defective ion channel-induced cardiomyopathy.
|
28314540 |
2017 |
|
Vascular inflammations
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
However, little is known about the role of CFTR in vascular inflammation and atherogenesis.
|
28615349 |
2017 |
|
Glucose Metabolism Disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
These results revealed a previously undefined role of CFTR in suppressing glucagon production in α-cells, defects in which may contribute to glucose metabolic disorder seen in CF and PCOS.
|
29204121 |
2017 |
|
Precursor B-cell lymphoblastic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The aberrant expression and mutation of CFTR have been observed in several tumor, but not in philadelphia chromosome-positive(Ph+) acute leukemia, including Ph+ B cell acute lymphoblastic leukemia(Ph+ B-ALL) and chronic myelogenous leukemia blast crisis phases (CML-BC).
|
28445932 |
2017 |
|
Childhood Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Altogether, this study provides strong evidence that high-expression CFTR plays an important role in the development of Ph+ leukemia through the HDAC2-mediated PTEN pathway.
|
28235656 |
2017 |
|
Sjogren's Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our findings reveal that correcting ductal function is sufficient to rescue acinar cell function and suggests that CFTR correctors are strong candidates for the treatment of Sjögren's syndrome and pancreatitis.
|
28634110 |
2017 |
|
IgE-mediated 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 |
|
Pulmonary arterial hypertension
|
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 |
|
Intraductal papillary mucinous neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Five patients were found to have a potential cause of RAP beyond santorinicele (2 patients had post-sphincterotomy stenosis, 1 patient was a chronic consumer of alcohol, 1 patient had a mutation in the CFTR gene, and 1 patient had a side-branch intraductal papillary mucinous neoplasm).
|
27521510 |
2017 |
|
Opioid-Induced Constipation
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
By high-throughput screening, we recently identified a phenylquinoxalinone activator of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel that stimulated intestinal fluid secretion and normalized stool output in a mouse model of opioid-induced constipation.
|
27815136 |
2017 |
|
Idiopathic pulmonary arterial hypertension
|
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 |
|
Intrinsic asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Non-allergic asthma is a clinical entity that may be associated with CFTR dysfunction of the respiratory epithelium.
|
26526220 |
2016 |
|
Progressive intrahepatic cholestasis (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
|
26879107 |
2016 |
|
Congenital leukocyte adherence deficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
Altogether, these data highlight the critical regulatory role of CFTR in integrin activation by chemoattractants in monocytes and identify CF as a new, cell type-selective leukocyte adhesion deficiency disease, providing new insights into CF pathogenesis.
|
26694899 |
2016 |
|
Microvillus inclusion disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The present study used Myo5b loss-of-function human MVID intestine, polarized intestinal cell models of secretory crypt (T84) and villus resembling (CaCo2BBe, C2BBe) enterocytes lacking Myo5b in conjunction with immunofluorescence confocal stimulated emission depletion (gSTED) imaging, immunohistochemical staining, transmission electron microscopy, shRNA silencing, immunoblots, and electrophysiological approaches to examine the distribution, expression, and function of the major BB ion transporters NHE3 (Na(+)), CFTR (Cl(-)), and SLC26A3 (DRA) (Cl(-)/HCO3 (-)) that control intestinal fluid transport.
|
27229121 |
2016 |
|
Malignant neoplasm of gastrointestinal tract
|
0.010 |
Biomarker
|
disease |
BEFREE |
To investigate the effects of CFTR dysregulation on GI cancer, we generated Apc(Min) mice that carried an intestinal-specific knockout of Cftr.
|
26751771 |
2016 |
|
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 |
|
Impaired insulin secretion
|
0.010 |
Biomarker
|
disease |
BEFREE |
CFTR potentiator therapy ameliorates impaired insulin secretion in CF patients with a gating mutation.
|
26547591 |
2016 |
|
Nasopharyngeal carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, the current study indicates that CFTR, as demonstrated to play an important role in tumor migration and invasion, may be used as a potential prognostic indicator in NPC.
|
27769067 |
2016 |
|
Airway Obstruction
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Cystic fibrosis (CF) is caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene resulting in a loss of Cl(-) channel function, disrupting ion and fluid homeostasis, leading to severe lung disease with airway obstruction due to mucus plugging and inflammation.
|
25453871 |
2015 |
|
Ulcerative Colitis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our study provides insight into the mechanism of pathophysiologic occurrence of diarrhea in UC and suggests that targeting CFTR and CFTR-containing macromolecular complexes will ameliorate diarrheal symptoms and improve conditions associated with inflammatory bowel disorders.
|
26261085 |
2015 |
|
Congenital absence of lung
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
First, in contrast to the systemic and intestinal inflammation we observed in the CFTR KO mice, we reported the absence of lung phenotype with regards to both inflammation and iron status.
|
26709821 |
2015 |
|
Degenerative disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
Mutant CFTR intracytoplasmic aggregates could be analogous to the accumulation of misfolded proteins in other degenerative disorders and in pulmonary "conformational protein-associated" diseases.
|
25453871 |
2015 |
|
Malignant tumor of colon
|
0.010 |
Biomarker
|
disease |
BEFREE |
The present study has revealed a previously unrecognized interaction between CFTR and AF-6/afadin that is involved in the pathogenesis of colon cancer and indicated the potential of the two as novel markers of metastasis and prognostic predictors for human colon cancer.
|
24373847 |
2014 |
|
Gaucher Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here, we report generation of cystic fibrosis (CF) and Gaucher's disease (GD) hiPSCs respectively from CF (homozygous for CFTRΔF508 mutation) and Type II GD [homozygous for β-glucocerebrosidase (GBA) 1448T>C mutation] patient fibroblasts, using CCR5- specific TALENs.
|
25245091 |
2014 |