Human | SCGB3A2 | 117156 | secretoglobin, family 3A, member 2 | By in situ hybridization, UGRP1 is found to be expressed by lung Clara-like cells in the bronchial epithelium and up-regulated in lung epithelium of a patient with cystic fibrosis |
Human | TRPV4 | 59341 | transient receptor potential cation channel, subfamily V, member 4 | results suggest that defective regulatory volume decrease (RVD) in cystic fibrosis airway epithelia might be caused by the absence of transient receptor potential cationic channel TRPV4-mediated Calcium(2+) signal |
Human | GOPC | 57120 | golgi-associated PDZ and coiled-coil motif containing | The cystic fibrosis-associated ligand (CAL) PDZ domain of the C-terminus of cystic fibrosis-associated conductance regulator (CFTR) is competitively involved with PDZ proteins Na+/H+ exchanger-3 regulatory factors NHERF1 and NHERF2 |
Human | DEFB103B | 55894 | defensin, beta 103B | Title:Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations.|Association:Not Found|Conclusion:Given the higher complexity found in the genomic organization of the DEFB4 and DEFB104 genes, association studies with CF lung disease severity were performed only for frequent polymorphisms located in DEFB1. No association with the age of first infection by Pseudomonas aeruginosa or with the FEV1 percentage at the age of 11-13 years could be found. |
Human | TREM1 | 54210 | triggering receptor expressed on myeloid cells 1 | down-regulation of TREM-1 expression in cystic fibrosis patients is at least partly responsible for the endotoxin tolerance state in which their monocytes are locked |
Human | FXYD5 | 53827 | FXYD domain containing ion transport regulator 5 | FXYD5 is upregulated in cystic fibrosis epithelia which may exacerbate the Na(+) hyperabsorption and surface liquid dehydration observed in cystic fibrosis |
Human | PLUNC | 51297 | | SPLUNC1 is specifically and significantly increased in the epithelial cells of small airways of lungs from patients with cystic fibrosis |
Human | JMJD6 | 23210 | jumonji domain containing 6 | Elastase-mediated phosphatidylserine receptor cleavage impairs apoptotic cell clearance in cystic fibrosis and bronchiectasis |
Human | CLCA4 | 22802 | chloride channel accessory 4 | CLCA1 and CLCA4 may have roles as modulators of the gastrointestinal basic defect in cystic fibrosis |
Human | MASP2 | 10747 | mannan-binding lectin serine peptidase 2 | Concentrations and genotypes of MASP-2 and mannan-binding lectin in 109 cystic fibrosis patients were correlated to lung function and chronic infections |
Human | GNB2L1 | 10399 | guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 | Protein kinase C epsilon-dependent regulation of cystic fibrosis transmembrane regulator involves binding to a receptor for activated C kinase (RACK1) and RACK1 binding to Na+/H+ exchange regulatory factor |
Human | KLF2 | 10365 | Kruppel-like factor 2 (lung) | Data suggest that, in neutrophil-dominated airway environments, such as that seen in cystic fibrosis, reduced LKLF activity releases a brake on pro-inflammatory cytokine production and may contribute to the inflammatory responses seen in CF |
Human | VAMP3 | 9341 | vesicle-associated membrane protein 3 | Hyperacidification of cellubrevin endocytic compartments and defective endosomal recycling in cystic fibrosis respiratory epithelial cells |
Human | ACCN3 | 9311 | | the interaction of ASIC3 and CFTR may contribute to defective salt and fluid transepithelial transport in the cystic fibrotic pulmonary system |
Human | BEST1 | 7439 | bestrophin 1 | bestrophin could be particularly important in diseases such as cystic fibrosis and secretory diarrhea--REVIEW |
Human | VCP | 7415 | valosin containing protein | valosin-containing protein (VCP) is an integral component of the endoplasmic reticulum associated degradation and cellular stress pathways induced by the unfolded protein response, which destroys the CFTR to cause cystic fibrosis |
Human | TXN | 7295 | thioredoxin | Exposure to low Trx concentrations (1 microM) caused significant increases in the percentage of liquid phase of sputum in cystic fibrosis patients |
Human | TNFRSF1A | 7132 | tumor necrosis factor receptor superfamily, member 1A | TNFRSF1A is a modulation in Cystic Fibrosis |
Human | TNF | 7124 | tumor necrosis factor | The TNF-308 promoter polymorphism is not a disease-modifying gene in homozygous delta F 508 cystic fibrosis patients |
Human | TLR5 | 7100 | toll-like receptor 5 | Toll-like receptor (TLR)5 is stored intracellularly in neutrophils and is mobilized to the cell surface in a protein synthesis-independent manner after stimulation with TLR ligands and cytokines characteristic of cystic fibrosis airway microenvironment study demonstrated that TLR signaling appears to mediate the excessive cytokine production occurring in cystic fibrosis; inhibition of TLR5 abolished the damaging inflammatory response generated by CF airway cells following exposure to P. aeruginosa |
Human | TLR4 | 7099 | toll-like receptor 4 | no effect on clinical phenotype was seen for TLR4 genotype in cystic fibrosis in the 100 subjects studied |
Human | TLR2 | 7097 | toll-like receptor 2 | This report implicates SP1 as a critical component of DNA demethylation-dependent up-regulation of TLR2 expression in cystic fibrosis epithelial cells |
Human | TGFB1 | 7040 | transforming growth factor, beta 1 | In cystic fibrosis, both extremes, highest or lowest TGF-beta 1 production, were associated with impaired lung function Genetic variation in the 5' end of TGFbeta1 or a nearby upstream region modifies disease severity in cystic fibrosis |
Human | TF | 7018 | transferrin | increased frequency of transferrin C1C2 genotype found in cystic fibrosis |
Human | TAP2 | 6891 | transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) | Title:Analysis of the modifying effects of TAP 1/2 genes on cystic fibrosis phenotype.|Association:Y|Conclusion:We demonstrated that TAP genes might have modifying effects on the CF phenotype. |