×
Entrez Id:
4313
Gene Symbol:
MMP2
MMP2
0.520
Biomarker
disease
BEFREE
Expression of BRM and MMP2 in the thoracic aortic aneurysm and aortic dissection is very high, indicating that BRM and MMP2 may play important roles in the occurrence and development of thoracic aortic aneurysm and aortic dissection.
28678310
2017
×
Entrez Id:
4313
Gene Symbol:
MMP2
MMP2
0.520
AlteredExpression
disease
BEFREE
Additionally, AGT and MMP-2 protein levels in the aorta of ATAA patients were higher (P < 0.01).
25955575
2015
×
Entrez Id:
4313
Gene Symbol:
MMP2
MMP2
0.520
Biomarker
disease
RGD
Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model.
20621845
2010
×
Entrez Id:
4313
Gene Symbol:
MMP2
MMP2
0.520
Biomarker
disease
CTD_human
Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms.
16159824
2005
×
Entrez Id:
4318
Gene Symbol:
MMP9
MMP9
0.510
AlteredExpression
disease
BEFREE
However, few studies have assessed serum MMP9 levels in both abdominal aortic aneurysm (AAA) and thoracic aortic aneurysm (TAA).
30373522
2018
×
Entrez Id:
4318
Gene Symbol:
MMP9
MMP9
0.510
Biomarker
disease
RGD
Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model.
20621845
2010
×
Entrez Id:
4318
Gene Symbol:
MMP9
MMP9
0.510
Biomarker
disease
CTD_human
Effects of deletion of the matrix metalloproteinase 9 gene on development of murine thoracic aortic aneurysms .
16159824
2005
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections .
30101859
2018
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
GWASCAT
Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.
27418160
2016
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1 , TGFβR1, TGFβR2 and ACTA2 genes.
24793577
2014
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection .
24743685
2014
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
Biomarker
disease
BEFREE
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections .
22772377
2013
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
Fibrillinopathies include Marfan syndrome, familial ectopia lentis, familial thoracic aneurysm (mutations of FBN1 ) and congenital contractural arachnodactyly (mutation of FBN2).
22921888
2012
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
Biomarker
disease
CTD_human
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
21909107
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
GWASCAT
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
21909107
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
GWASDB
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
21909107
2011
×
Entrez Id:
2200
Gene Symbol:
FBN1
FBN1
0.460
GeneticVariation
disease
BEFREE
FBN1 mutations can also cause other phenotypes, such as ectopia lentis (EL) and familial isolated thoracic aortic aneurysm and dissection (FAA).
11826022
2002
×
Entrez Id:
59
Gene Symbol:
ACTA2
ACTA2
0.430
GeneticVariation
disease
BEFREE
Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms : a case report.
30526509
2018
×
Entrez Id:
59
Gene Symbol:
ACTA2
ACTA2
0.430
GeneticVariation
disease
BEFREE
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections .
24020716
2015
×
Entrez Id:
59
Gene Symbol:
ACTA2
ACTA2
0.430
GeneticVariation
disease
BEFREE
In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGFβR1, TGFβR2 and ACTA2 genes.
24793577
2014
×
Entrez Id:
59
Gene Symbol:
ACTA2
ACTA2
0.430
Biomarker
disease
CTD_human
Here we show that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD).
17994018
2007
×
Entrez Id:
59
Gene Symbol:
ACTA2
ACTA2
0.430
Biomarker
disease
HPO
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.330
GeneticVariation
disease
BEFREE
Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and Dissections .
30101859
2018
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.330
GeneticVariation
disease
BEFREE
The implication of mutations in the TGFBR2 gene, known to be involved in cancers, in Marfan syndrome (MFS) and later in Loeys-Dietz syndrome (LDS) and Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) gives a new example of the complexity of one gene involved in multiple diseases.
17935258
2008
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
0.330
Biomarker
disease
CTD_human
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections .
16027248
2005