Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.010 Biomarker disease BEFREE Among these factors, dyslipidemia (i.e., high LDL cholesterol, high lipoprotein (a)) and the activation of specific pro-inflammatory pathways (nucleotide-binding oligomerization domain-like receptor containing pyrin domain 3 inflammasome and Toll-like receptor 4) appear to play a pivotal role in the progression of BAV-associated diseases. 30872037 2019
Entrez Id: 406985
Gene Symbol: MIR200C
MIR200C
0.010 AlteredExpression disease BEFREE Further, qRT-PCR and ChIP analyses showed lower expression of miR-200c, higher expression of miR-200 target genes, ZEB1/ZEB2 transcription factors, and higher chromatin occupancy of the miR-200c promoter by ZEB1/ZEB2 in BAV patients, indicating a miR-200c/ZEBs negative feedback loop and induction of endothelial/epithelial mesenchymal transition (EndMT/EMT). 30280445 2019
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
0.010 AlteredExpression disease BEFREE The senescent-collagenolytic SMC phenotype depended on p38 MAPK signaling, which was chronically activated in BAV aortas. 31078518 2019
Entrez Id: 25897
Gene Symbol: RNF19A
RNF19A
0.010 AlteredExpression disease BEFREE The senescent-collagenolytic SMC phenotype depended on p38 MAPK signaling, which was chronically activated in BAV aortas. 31078518 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.010 Biomarker disease BEFREE BAV (n = 6), CoA (n = 3), AS (n = 2), ASD (n = 1, 2.5%), and PAPVR (n = 1, 2.5%) were found in only the 45,X group. 31672476 2019
Entrez Id: 407018
Gene Symbol: MIR27A
MIR27A
0.010 AlteredExpression disease BEFREE FOS knockdown in BAV SMCs increased expression of miR-27a, a stretch responsive miRNA. 31047984 2019
Entrez Id: 407021
Gene Symbol: MIR29A
MIR29A
0.010 AlteredExpression disease BEFREE Interestingly, we also found that only miR-29A is significantly downregulated in BAVs. 31501876 2019
Entrez Id: 1401
Gene Symbol: CRP
CRP
0.010 Biomarker disease BEFREE This study aimed to investigate the diagnostic influence and surgical predictive effect of NLR and CRP on CAVD.A total of 278 consecutive patients with CAVD (123 patients with bicuspid aortic valve and others with tricuspid aortic valve) and 108 healthy individuals who were included in the control group were enrolled in the study. 30745535 2019
Entrez Id: 6581
Gene Symbol: SLC22A3
SLC22A3
0.010 Biomarker disease BEFREE We propose that a miR-200-dependent process of EndMT/EMT is a plausible biological mechanism rendering the BAV ascending aorta more prone to aneurysm development. 30280445 2019
Entrez Id: 1432
Gene Symbol: MAPK14
MAPK14
0.010 AlteredExpression disease BEFREE The senescent-collagenolytic SMC phenotype depended on p38 MAPK signaling, which was chronically activated in BAV aortas. 31078518 2019
Entrez Id: 57057
Gene Symbol: TBX20
TBX20
0.010 Biomarker disease BEFREE This revealed a suggestive genetic role for TBX20 in BAV/TAA aetiology, further reinforced by segregation of a rare TBX20 variant with the phenotype within a BAV/TAA family. 30820038 2019
Entrez Id: 54961
Gene Symbol: SSH3
SSH3
0.010 AlteredExpression disease BEFREE A total of 1796 protein and 75 phosphoprotein accession numbers were detected, of which 34 proteins and one phosphoprotein (SSH3) were differentially expressed in BAV patients compared to TAV patients. 30995723 2019
Entrez Id: 3726
Gene Symbol: JUNB
JUNB
0.010 Biomarker disease BEFREE Upstream analysis of AP-1 regulation showed that the ERK1/2 signaling pathway is dysregulated and thus represents a novel chain of mediators of aortic dilatation in BAV which should be considered in future studies. 31047984 2019
Entrez Id: 26073
Gene Symbol: POLDIP2
POLDIP2
0.010 AlteredExpression disease BEFREE The senescent-collagenolytic SMC phenotype depended on p38 MAPK signaling, which was chronically activated in BAV aortas. 31078518 2019
Entrez Id: 3727
Gene Symbol: JUND
JUND
0.010 Biomarker disease BEFREE Upstream analysis of AP-1 regulation showed that the ERK1/2 signaling pathway is dysregulated and thus represents a novel chain of mediators of aortic dilatation in BAV which should be considered in future studies. 31047984 2019
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
0.010 AlteredExpression disease BEFREE The senescent-collagenolytic SMC phenotype depended on p38 MAPK signaling, which was chronically activated in BAV aortas. 31078518 2019
Entrez Id: 9402
Gene Symbol: GRAP2
GRAP2
0.010 AlteredExpression disease BEFREE The senescent-collagenolytic SMC phenotype depended on p38 MAPK signaling, which was chronically activated in BAV aortas. 31078518 2019
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 GeneticVariation disease BEFREE In this review, we focused on interactions and transitions between aforementioned mechanisms demarcating ascending stages of CAVD, suggesting a predisposing condition (bicuspid aortic valve) and drug combination (lipid-lowering drugs combined with angiotensin II antagonists and cytokine inhibitors) for the further testing in both preclinical and clinical trials. 31136747 2019
Entrez Id: 2354
Gene Symbol: FOSB
FOSB
0.010 Biomarker disease BEFREE Upstream analysis of AP-1 regulation showed that the ERK1/2 signaling pathway is dysregulated and thus represents a novel chain of mediators of aortic dilatation in BAV which should be considered in future studies. 31047984 2019
Entrez Id: 2353
Gene Symbol: FOS
FOS
0.010 AlteredExpression disease BEFREE FOS knockdown in BAV SMCs increased expression of miR-27a, a stretch responsive miRNA. 31047984 2019
Entrez Id: 8862
Gene Symbol: APLN
APLN
0.010 AlteredExpression disease BEFREE The aim of this study was to determine the relationship between serum apelin levels and ascending aortic dilatation in adult patients with BAV. 30485657 2019
Entrez Id: 3725
Gene Symbol: JUN
JUN
0.010 Biomarker disease BEFREE Upstream analysis of AP-1 regulation showed that the ERK1/2 signaling pathway is dysregulated and thus represents a novel chain of mediators of aortic dilatation in BAV which should be considered in future studies. 31047984 2019
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
0.010 Biomarker disease BEFREE Further, qRT-PCR and ChIP analyses showed lower expression of miR-200c, higher expression of miR-200 target genes, ZEB1/ZEB2 transcription factors, and higher chromatin occupancy of the miR-200c promoter by ZEB1/ZEB2 in BAV patients, indicating a miR-200c/ZEBs negative feedback loop and induction of endothelial/epithelial mesenchymal transition (EndMT/EMT). 30280445 2019
Entrez Id: 1398
Gene Symbol: CRK
CRK
0.010 AlteredExpression disease BEFREE The senescent-collagenolytic SMC phenotype depended on p38 MAPK signaling, which was chronically activated in BAV aortas. 31078518 2019
Entrez Id: 3702
Gene Symbol: ITK
ITK
0.010 Biomarker disease BEFREE We propose that a miR-200-dependent process of EndMT/EMT is a plausible biological mechanism rendering the BAV ascending aorta more prone to aneurysm development. 30280445 2019