CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cystic Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE β2-Adrenergic receptor agonists activate CFTR in intestinal organoids and subjects with cystic fibrosis. 27471203 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE β-Adrenergic assays quantitate CFTR dysfunction in the secretory pathway of sweat glands in CF and CRMS/CFSPID populations. 31344706 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease CLINVAR [Turkish infant with hypoelectrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H)]. 10719683 2000
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease LHGDN [Oxidative stress, smoking and CFTR: can cystic fibrosis be acquired?]. 17212919 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease CLINVAR [Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis]. 23302613 2012
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE Yet a further way in which a pharmacological approach to CF can be considered is to recruit alternative chloride channels, such as calcium-activated chloride channel (CaCC), to act as surrogates for CFTR. 21108631 2011
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE With the increasing knowledge of cystic fibrosis (CF) and CFTR-related diseases (CFTR-RD), the number of sequence variations in the CFTR gene is constantly raising. 20607857 2010
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE With the improving survival of cystic fibrosis (CF) patients and the advent of highly effective cystic fibrosis transmembrane conductance regulator therapy, the clinical spectrum of this complex multisystem disease continues to evolve. 31659730 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE With the approval of promising small molecule correctors and potentiators, molecular characterization of Chinese-specific CFTR mutations will help to realize more precise treatment for Chinese CF patients. 30558651 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE With the advent of highly effective CF transmembrane conductance regulator modulators that are increasingly available, many individuals with CF now have significantly improved life expectancy. 31659728 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE With the adapted Fischer rat thyroid-yellow fluorescent protein halide flux assay to the combination high-throughput screening platform, we identified many interesting single agents as CFTR modulators from a library of approved drugs and mechanistic probe compounds, and combinations that synergistically modulate F508del-CFTR channel function in Fischer rat thyroid cells, demonstrating the potential for combination therapeutics to address the defects that cause CF. 21050065 2010
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE With restoration of adequate CFTR function through pharmacotherapy, it is possible that the clinical course of patients with CF could be markedly improved, including longevity, quality of life and treatment burden. 23616952 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE With improvements in efficacy, manipulating the airway epithelium to make it permissive towards cell transplantation may provide another option for safe and effective correction of CF transmembrane conductance regulator function in CF airways. 29895311 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE With differentiated cystic fibrosis (CF) airway epithelia in vitro, a 20-min application of Ad:CaPi coprecipitates that encode CF transmembrane conductance regulator produced as much CF transmembrane conductance regulator Cl- current as a 24-h application of adenovirus alone. 9649572 1998
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE With a view to assessing genotype-to-phenotype correlations in cystic fibrosis (CF), the clinical presentation of CF children from the United Arab Emirates (UAE) who were homozygous for cystic fibrosis transmembrane conductance regulator (CFTR) mutation S549R(T-->G was investigated. 10836331 1999
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Wild type and mutant CFTR channels can be activated by curcumin, a well tolerated dietary compound with some appeal as a prospective CF therapeutic. 19740743 2009
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. 27488443 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE While the safety and effectiveness remain to be demonstrated, these observations suggest the feasibility of in vivo CFTR gene transfer as therapy for the pulmonary manifestations of CF. 1370653 1992
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE While over 1000 mutations in CFTR have been associated with CF, the majority of cases are linked to the deletion of phenylalanine 508 (delta F508). 18080175 2007
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. 15151509 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE While a major target in cystic fibrosis (CF) research in recent years has been the development of corrector and potentiator drugs targeting the cystic fibrosis transmembrane conductance regulator (CFTR) protein, these therapies have not yet proven robust enough to replace or eliminate other therapies that have demonstrated improved health outcomes and quality of life in patients with CF. 26335956 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Whereas some complex-glycosylated CFTR was often present in rectal biopsies of F508del homozygous subjects, no mature CFTR was detectable in CF lungs at the stage of terminal respiratory insufficiency. 22832190 2012
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 AlteredExpression disease BEFREE Whereas mutant CFTR expression in leukocytes outside of the lung does not markedly impair their function, the expected regulation of inflammation in the airways is clearly deficient in cystic fibrosis. 22481418 2012
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE Where evidence is available for the impact of CFTR modulatory therapy, namely ivacaftor on comorbidities in CF, this is highlighted. 28554721 2017
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease LHGDN When we restored the F508del-CFTR trafficking in CFTR-reverted cells, the specific IP3R activity was also reduced to a similar level as in non CF cells. 18973672 2008