CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
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 GeneticVariation disease BEFREE In this review, we provide the latest results and current progress of CFTR modulators for the treatment of cystic fibrosis, focusing on potentiators of CFTR channel gating and Phe508del processing correctors for the Phe508del CFTR mutation. 26097168 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE The isolation and cloning of the gene in CF that encodes the production of a transport protein that acts as an apical membrane chloride channel, termed cystic fibrosis transmembrane conductance regulator (CFTR), have improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has also revealed the disease's complexity. 15758625 2005
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease LHGDN First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. 15537723 2004
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 GeneticVariation disease BEFREE Evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease. 12677168 2003
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is a genetic inherited disease due to mutations in the gene cystic fibrosis transmembrane conductance regulator (CFTR). 29094263 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Here, we show that a simple cellular CF disease model based on the bronchial epithelial ΔF508 cell line CFBE41o- can be used to validate functional CFTR correction. 27526025 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE Our study identifies lung macrophages as target cells of the anti-inflammatory effect of vardenafil in CF and supports the view that the drug is potentially beneficial for treating CF as it combines rescue of CFTR protein and anti-inflammatory properties. 28196856 2017
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE These observations suggest that CAPN1 constitutes an appealing target for pharmacological intervention, as part of CF combination therapies restoring Phe508del-CFTR function. 31324722 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40. 26070913 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease CLINVAR Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. 20021716 2009
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease CLINVAR Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions. 25066652 2014
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 AlteredExpression disease BEFREE Reliable protocols for consistent detection of as few as 10 molecules of CFTR mRNA and DNA in nasal brushing samples are described, Both vector and DNA have been produced to Good Manufacturing Practice standard, Nasal potential difference measurements developed at the National Heart and Lung Institute to assess the CFTR ion channel activity in CF patients replicated well at the Scottish Adult Cystic Fibrosis Service. 8986438 1996
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 AlteredExpression disease BEFREE Therefore, the authors investigated the induction of IP-10 in CF bronchial epithelial cell line CFBE41o- and its CFTR-corrected isotype under well-differentiating conditions. 21649525 2011
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE The majority of men with congenital absence of the vas deferens have a defect in both copies of the CFTR gene and therefore represent a distinct phenotypic form of cystic fibrosis. 8796848 1996
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is a genetic and life-limiting disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. 31715088 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. 15365999 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE The most prevalent cause of cystic fibrosis (CF) is the deletion of a phenylalanine residue at position 508 in CFTR (ΔF508-CFTR) protein. 24818864 2014
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is due to a folding defect in the CF transmembrane conductance regulator (CFTR) protein. 25384981 2014
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 CausalMutation disease CLINVAR Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. 8844211 1996
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE The most common mutation of CFTR, affecting approximately 90% of CF patients, is a deletion of phenylalanine at position 508 (F508del, ΔF508). 26863533 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE During the past twenty years, thanks to the evolution of diagnostic techniques, our knowledge of CFTR genetics and pathophysiological mechanisms involved in cystic fibrosis has significantly improved. 29580110 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease CLINVAR Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. 10762539 2000
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE Despite the prospect of regulatory approval of a CFTR-targeting therapy for most CF mutations, strenuous efforts are still needed to fully comprehend CFTR structure-and-function for the development of better drugs to enable people with CF to live full and active lives. 31759907 2020
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease CLINVAR The p.Gly622Asp (G622D) mutation, frequently found in Reunion Island and in black populations, is associated with a wide spectrum of CF and CFTR-RD phenotypes. 25443471 2015