Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Collectively, the results strongly suggest that the c.2678-15C>A variant could lead to haploinsufficiency of the FBN1 functional protein and structural connective tissue fragility in MFS complicated by aorta dilation, a finding that further expands on the genetic basis of aortic pathology.
|
30003093 |
2018 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants.
|
29210860 |
2018 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Fibrillin-1 (FBN1) mutations associated with Marfan syndrome lead to an increase in transforming growth factor β (TGF-β) activation in connective tissues resulting in pathogenic changes including aortic dilatation and dissection.
|
28669633 |
2017 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Resveratrol is known to enhance sirtuin-1 activity and to reduce senescence, which prompted us to investigate the effectiveness of resveratrol in inhibition of aortic dilatation in the Fbn1(C1039G/+) MFS mouse model.
|
27283746 |
2016 |
Dilatation of aorta
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
There were no significant associations between all studied FBN1 SNPs and post-stenotic or bicuspid aortic dilatation.
|
25583878 |
2015 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Finally, we show that a low level of residual WT FBN1 mRNA accounts for a high risk of ectopia lentis and pectus abnormality and tends to increase the risk of aortic dilatation.
|
25652400 |
2015 |
Dilatation of aorta
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Indeed, 10% of MFS patients were reclassified as ELS or MASS in the absence of aortic dilatation; conversely, 5% were reclassified as MFS in the presence of aortic dilatation.
|
21564093 |
2012 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in FBN1 are mainly responsible for the Marfan syndrome (MFS), recognized by its pleiotropic clinical features including tall stature and arachnodactyly, aortic dilatation and dissection, and ectopia lentis.
|
22242013 |
2012 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations).
|
20648054 |
2010 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
However, FBN1 gene mutations are found in an ill-defined group of diseases termed 'type I fibrillinopathies', which are associated with an increased risk of aortic dilatation and dissection.
|
19293843 |
2009 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The risk of aortic dilatation was 8.83 (1.94-13.99) times greater in patients with histologically abnormal aorta and 8.11 (1.93-34.04) times greater in patients with fibrillin-1 "exonic DNA variants."
|
18805282 |
2008 |
Dilatation of aorta
|
0.200 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|