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 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 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 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 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 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 Biomarker disease BEFREE This is the first report to describe the identification of compounds with dual therapeutic action that are able to enhance the efficacy of CFTR gene therapy to the airway while simultaneously ameliorating primary aspects of CF disease pathophysiology. 15564131 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE This suggests that it is of some value to identify patients with late-onset CF and CFTR-related disorders. 21499205 2011
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE This review describes the current challenges in providing effective nutritional therapy in CF with a focus on the current issues related to energy imbalance, dietary composition, adherence to nutritional recommendations, pancreatic enzyme replacement therapy, and the effects of modulators of the CF transmembrane conductance regulator.<b>Expert opinion</b>. 31094240 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is inherited as an autosomal recessive trait, and the mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene contributes to the CF syndrome. 15716623 2005
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE CFTR-dependent chloride efflux in cystic fibrosis mononuclear cells is increased by ivacaftor therapy. 28445004 2017
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE It has been shown that the CBAVD in men without clinical evidence of CF is associated with a high incidence of mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles. 15905293 2005
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Thus reduced Cl- conductance caused by the three CFTR mutations affects normal development of vas deferens and leads to CBAVD, but the remaining function is sufficient to prevent other typical CF symptoms. 18769034 2008
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. 18556774 2008
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE However, the discordant phenotype observed in CF siblings argued against a major role of environmental factors and suggested that genes other than CFTR modulate the CF phenotype. 12124743 2002
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE Gut microbiota signatures in cystic fibrosis: Loss of host CFTR function drives the microbiota enterophenotype. 30521551 2018
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 GeneticVariation disease BEFREE Cystic fibrosis (CF) is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR) protein, which acts as a chloride channel after activation by cyclic AMP (cAMP). 17018149 2006
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE A redefined gene structure based on the full sequence of the gene derived from the Human Genome Project is presented, along with brief reviews of the transcription regulatory sequences for the CFTR gene, the role of mRNA splicing in gene regulation and CF disease, and, various related sequences in the human genome and other species. 23378595 2013
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		1.000 Biomarker disease BEFREE CFTR function was greater with time and was accompanied by trends toward improvements in pulmonary function and CF-related coughing. 21233271 2011