Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 AlteredExpression disease BEFREE Among them, caveolin-1, filamin A expression, and cathepsin D combined with macrophagocytes counts were significantly increased; glutathione S-transferase mu1 (GSTM1) expression was significantly decreased in the irreversible CHD-PAH group (all P < 0.05). 29480151 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease BEFREE Conclusions- EC Cav-1 depletion occurs, in part, via Cav-1+ extracellular vesicle shedding into the circulation, which contributes to increased TGF-β signaling, EC proliferation, vascular remodeling, and pulmonary arterial hypertension. 30943774 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease BEFREE This study aimed to investigate the effect of a mutated caveolin-1 (Cav1<sup>F92A</sup>) gene from bone marrow mesenchymal stem cells (rBMSCs) on phenotypic switching in the smooth muscle cells during PAH. 30262154 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE In heritable PAH, bone morphogenetic protein receptor type II mutations may be absent; while mutations of other genes, such as type I receptor activin receptor-like kinase 1 and the type III receptor endoglin (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 and KCNK3, the gene encoding potassium channel subfamily K, member 3, can be detected, instead. 28967497 2018
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease GENOMICS_ENGLAND Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. 29650961 2018
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 AlteredExpression disease BEFREE PAH associated variables and cav‑1 protein expression were measured in each group at various times during the experimental period. 29286128 2018
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease BEFREE Recent studies have identified heterozygous mutations in the <i>CAV1</i> gene in patients with pulmonary arterial hypertension (PAH), but the mechanisms by which these mutations impact caveolae assembly and contribute to disease remain unclear. 28904206 2017
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE Intravenous delivery of rBMSCs expressing eNOS/F92A-Cav1 to PAH rats inhibits pulmonary vascular smooth muscle cell proliferation, and improves pulmonary haemodynamics, vascular remodelling and short-term survival. 27771236 2017
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE These results demonstrate the critical role of the final 20 amino acids of caveolin-1 in modulating fibroblast proliferation through dampening Smad signaling, and suggest that augmented Smad signaling and fibroblast hyper-proliferation are contributing factors in the pathogenesis of PAH in patients with caveolin-1 c.474delA mutation. 28298490 2017
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE These results demonstrate the critical role of the final 20 amino acids of caveolin-1 in modulating fibroblast proliferation by dampening Smad signaling and suggest that augmented Smad signaling and fibroblast hyperproliferation are contributing factors in the pathogenesis of PAH in patients with caveolin-1 c.474delA mutation. 28468941 2017
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease BEFREE First, the low expressions of DJ-1 and caveolin-1 (Cav-1) were synchronously detected in lung tissue of PAH model rats and hypoxia-induced PASMCs by Western blot. 29069575 2017
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE However, current guidelines, clinical practices, and available gene panels focus the diagnosis of PAH on a relatively low number of genes and variants associated with the bone morphogenic proteins and transforming Growth Factor-β pathways, such as the BMPR2, ACVRL1, CAV1, ENG, and SMAD9. 28768485 2017
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE These findings identify defects in caveolae that may serve as contributing factors to the development of PAH and CGL and broaden our knowledge of CAV1 mutations associated with human disease. 27717241 2016
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE Screening with the Rat Signal Transduction PathwayFinder R<sup>2</sup> PCR Array system and subsequent western blot, immunohistochemistry or real time PCR analysis revealed that F92A-Cav1 modified rBMSCs can inhibit the inflammation factors (TNF-alpha, Icam1 and C/EBPdelta), pro-proliferation genes (c-Myc, Bcl2a1d, Notch1and Hey2), oxidative stress gene (Hmox1) and activate cell cycle arrested gene Cdkn1a, ameliorating inflammation and inhibiting cell proliferation in PAH rat. 27470556 2016
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority of cases of familial PAH, investigators have discovered mutations in genes that cause PAH in families without BMPR2 mutations, including the type I receptor ACVRL1 and the type III receptor ENG (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 (CAV1), and a gene (KCNK3) encoding a two-pore potassium channel. 25159282 2014
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE Recent advanced gene-sequencing methods have facilitated the discovery of additional genes with mutations among those with and those without familial forms of PAH (CAV1, KCNK3, EIF2AK4). 24951767 2014
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE CAV1 regulates SMAD2/3 phosphorylation, and mutations in CAV1 are a rare cause of PAH. 24442418 2014
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE We studied a family in which multiple members had pulmonary arterial hypertension without identifiable mutations in any of the genes known to be associated with the disease, including BMPR2, ALK1, ENG, SMAD9, and CAV1. 23883380 2013
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 GeneticVariation disease BEFREE Mutations in CAV1 are associated in rare cases with PAH. 22474227 2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease BEFREE Further, therapeutic blockade of CD47 activation in hypoxic pulmonary artery endothelial cells upregulated Cav-1, increased Cav-1CD47 co-association, decreased eNOS-derived superoxide, and protected animals from developing PAH. 22215724 2012
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease BEFREE The finding of eNOS activation and PKG nitration concomitant with Cav1 deficiency was recapitulated in lungs from patients with idiopathic pulmonary arterial hypertension. 20382348 2009
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 AlteredExpression disease BEFREE Increased smooth muscle cell expression of caveolin-1 and caveolae contribute to the pathophysiology of idiopathic pulmonary arterial hypertension. 17470567 2007
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease CTD_human
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.700 Biomarker disease HPO