Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1264
Gene Symbol: CNN1
CNN1
0.010 AlteredExpression disease BEFREE Cultured MFS-VSMC depicted marked phenotype changes vs. wild-type (WT) VSMC, with overexpressed cell proliferation markers but either lower (calponin-1) or higher (SM alpha-actin and SM22) differentiation marker expression. 31678158 2020
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 AlteredExpression disease BEFREE MFS-VSMC proteomic profile diverged from that of WT-VSMC particularly regarding lower expression of actin cytoskeleton-regulatory proteins. 31678158 2020
Entrez Id: 1401
Gene Symbol: CRP
CRP
0.010 AlteredExpression disease BEFREE The tumour grade and metastasis of MFS are independently associated with disease-specific survival, whereas negative surgical margins, local recurrence and blood levels of C-reactive protein and haemoglobin were not significant prognostic factors. 31177139 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.010 AlteredExpression disease BEFREE Compared with control-VPCs, MFS-VPCs exhibited cellular senescence as demonstrated by increased cell size, higher SA-β-gal activity and elevated levels of p53 and p21. 30920150 2019
Entrez Id: 83932
Gene Symbol: SPRTN
SPRTN
0.010 GeneticVariation disease BEFREE Apalutamid, ein neuer Androgenrezeptorinhibitor (ARI), verlängerte in der SPARTAN-Studie beim Hochrisiko-M0CRPC im Vergleich zu Placebo das metastasenfreie Überleben (MFS) signifikant. 30959508 2019
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
0.010 AlteredExpression disease BEFREE Factor VIII activity correlated significantly negatively with the diameter of the aortic root in MFS (r=-0.55, P<0.05). 31737529 2019
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
0.010 Biomarker disease BEFREE The association of an enhanced activity by MMP-13 with an increased amount of active MMP-9 might be an important biomarker for the diagnosis of Marfan syndrome. 31340803 2019
Entrez Id: 7450
Gene Symbol: VWF
VWF
0.010 AlteredExpression disease BEFREE In MFS von Willebrand factor (VWF) activity (81.9%±41.8% <i>vs.</i> 106.3%±41.5%, P<0.05) and antigen (93.8%±43.9% <i>vs.</i> 118.8%±47.8%, P<0.05) and factor VIII activity (108.9%±29.6% <i>vs.</i> 126.7%±28.4%, P<0.05) were reduced. 31737529 2019
Entrez Id: 4239
Gene Symbol: MFAP4
MFAP4
0.010 AlteredExpression disease BEFREE MFAP4 mRNA levels were markedly higher in MFS aortic tissue. 31315432 2019
Entrez Id: 7442
Gene Symbol: TRPV1
TRPV1
0.010 Biomarker disease BEFREE A significant increase in iNOS, TRPV1, VCAM (p≤0.05), NO₃⁻/NO₂⁻ ratio (p=0.002) and a significant decrease in eNOS (p=0.04) and HDL in plasma (p=0.02) in the MS vs. the C group were found. 31073986 2019
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.010 Biomarker disease BEFREE Screening of anti-cancer drugs in NCC-MFS1-C1 cells identified five candidate drugs for MFS. 30737712 2019
Entrez Id: 50507
Gene Symbol: NOX4
NOX4
0.010 AlteredExpression disease BEFREE Here we identify the molecular targets of redox stress in aortic aneurysms from MFS patients, and investigate the role of NOX4, whose expression is strongly induced by TGF-β, in aneurysm formation and progression in a murine model of MFS. 29471108 2018
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.010 AlteredExpression disease BEFREE NEW & NOTEWORTHY We present the most comprehensive quantitative analysis of the ascending aortic aneurysm proteome in Marfan syndrome to date resulting in novel and potentially wide-reaching findings that expression and signaling by β<sub>3</sub>-integrin constitute a modulator of transforming growth factor-β-induced rapamycin-independent component of mammalian target of rapamycin (Rictor) signaling and physiology in aortic vascular smooth muscle cells. 30004239 2018
Entrez Id: 9514
Gene Symbol: GAL3ST1
GAL3ST1
0.010 Biomarker disease BEFREE In vivo noninvasive biomechanical analyses with CST offer a new, non-invasive method to identify pathologic corneal deformation responses in adults with MFS. 29525839 2018
Entrez Id: 1462
Gene Symbol: VCAN
VCAN
0.010 Biomarker disease BEFREE Here, we defined the aortic proteoglycanome using mass spectrometry, and based on the findings, investigated the large aggregating proteoglycans aggrecan and versican in human ascending TAAD and a mouse model of severe Marfan syndrome. 29515038 2018
Entrez Id: 6098
Gene Symbol: ROS1
ROS1
0.010 Biomarker disease BEFREE Aortic ROS generation in 6-month-old MFS animals was higher at advanced stages of disease in MFS. 29765495 2018
Entrez Id: 4233
Gene Symbol: MET
MET
0.010 AlteredExpression disease BEFREE The MET/CEP7 ratio was about 0.65 on average, suggesting that chromosome 7 polysomy, rather than Met gene amplification, leading to the overexpression of MET protein in MFS. 30126419 2018
Entrez Id: 5972
Gene Symbol: REN
REN
0.010 Biomarker disease BEFREE Available evidence suggests that the renin-angiotensin-aldosterone (RAA) system is a good target for medical intervention on aortic root dilatation in Marfan syndrome (MFS). 29300219 2018
Entrez Id: 8129
Gene Symbol: HBHR
HBHR
0.010 Biomarker disease BEFREE Our data suggest that increased protective endothelial function, rather than ATR1 inhibition or blood pressure lowering, might be of therapeutic significance in preventing aortic root disease in MFS. 29433732 2018
Entrez Id: 1003
Gene Symbol: CDH5
CDH5
0.010 Biomarker disease BEFREE APPROACH AND RESULTS: <i>Cdh5-Cre</i> and <i>Sm22-Cre</i> transgenic mice were used to inactivate the At1ar-coding gene (<i>Agt1ar</i>) in either intimal or medial cells of both wild type and Marfan syndrome mice, respectively. 29371244 2018
Entrez Id: 1666
Gene Symbol: DECR1
DECR1
0.010 Biomarker disease BEFREE Redox stress in Marfan syndrome: Dissecting the role of the NADPH oxidase NOX4 in aortic aneurysm. 29471108 2018
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
0.010 Biomarker disease BEFREE Having shown that MFS causes endothelial dysfunction and that losartan can activate endothelial function in mice and patients, we found that nitric oxide synthase (NOS) inhibition renders losartan therapeutically inactive, whereas multiple transgenic and pharmacologic models of endothelial NOS activation block aortic root dilation by correcting extracellular signal-regulated kinase signaling. 29433732 2018
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
0.010 Biomarker disease BEFREE Our data suggest that increased protective endothelial function, rather than ATR1 inhibition or blood pressure lowering, might be of therapeutic significance in preventing aortic root disease in MFS. 29433732 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.010 AlteredExpression disease BEFREE The cerebrospinal fluid (CSF) protein level in patients was higher in MFS-BP+ than in MFS-BP- group (67.69 ± 26.59 vs. 50.15 ± 20.44 mg/dl; P < 0.05). 29124441 2018
Entrez Id: 9939
Gene Symbol: RBM8A
RBM8A
0.010 Biomarker disease BEFREE Between 2003 and 2015, we performed TAR + FET for 26 patients with MFS who developed TAAD following a prior Bentall procedure. 29850143 2018