|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
BEFREE |
In conclusion, our study demonstrates that subjects with BAV display a significant deregulation of TLR4 signaling pathway paralleled by a deregulation of Notch-1 pathway, as previously showed.
|
31363123 |
2019 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NOTCH1 is a proven candidate gene and its mutations have been found in familial and sporadic cases of BAV.
|
31330235 |
2019 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NOTCH1 gene are one of only a few genetic anomalies identified in BAV disease; however evidence for defective NOTCH signaling, and its involvement in the characteristic histological changes of VSMC apoptosis and differentiation in ascending aortae of BAV patients is lacking.
|
30621852 |
2019 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
CTD_human |
Causative gene mutations (for example, NOTCH1, SMAD6) are known for ≤1% of nonsyndromic BAV cases with and without AscAA<sup>5-8</sup>, impeding mechanistic insight and development of therapeutic strategies.
|
30455415 |
2019 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Up to date, three genes, NOTCH1, GATA5 and SMAD6, have been linked to the isolated form of BAV.
|
29162281 |
2018 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.
|
30059548 |
2018 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NOTCH1 gene mutations might potentially contribute to the development of thoracic aortic aneurysms by affecting SMC differentiation in some patients with bicuspid aortic valve.
|
29653750 |
2018 |
|
Bicuspid aortic valve
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
However, circulating Notch1 levels and EPC number were significantly lower in BAV subjects than TAV patients either in the presence or absence of AAA.
|
30218064 |
2018 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings are the first to our knowledge to demonstrate an SHF lineage-specific role for Notch1 in AscAA and suggest that genes linked to the development of BAV may also contribute to the associated aortopathy.
|
29093270 |
2017 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, several mouse models of BAV have been described defining the role of endothelial Notch1 in aortic valve morphogenesis, whereas others have implicated new genes.
|
28157139 |
2017 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Nine genes previously associated with BAV (NOTCH1, AXIN1, EGFR, ENG, GATA5, NKX2-5, NOS3, PDIA2, and TGFBR2) were sequenced in 48 patients with BAV using the Ion Torrent Personal Genome Machine.
|
26708639 |
2016 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
BEFREE |
NOTCH1 is the only proven candidate gene to be associated with both familial and sporadic BAV.
|
27583373 |
2016 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, it has been shown that mutations in the NOTCH1 gene can lead to bicuspid aortic valve, aortic aneurysm, and hypoplastic left heart syndrome.
|
24418111 |
2015 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
BEFREE |
While BAV is known to be highly heritable, mutations in single genes (such as GATA5 and NOTCH1) have been reported in few human BAV cases.
|
25260786 |
2014 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All exons and splice junctions of NOTCH1 were sequenced in probands from 13 affected families presenting with bicuspid aortic valve with ascending aortic aneurysm in the absence of valve calcification.
|
23102684 |
2013 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two novel NOTCH1 mutations were identified in two Italian families with BAV, highlighting the role of a NOTCH1 signaling pathway in BAV and its aortic complications.
|
23578328 |
2013 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
BEFREE |
Bicuspid aortic valve (BAV) is the commonest congenital heart disease and a highly heritable trait; however, only the NOTCH1 gene has been linked to limited cases of BAV in humans.
|
22641149 |
2012 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, only 1 gene, NOTCH1, has been linked to cases of BAV.
|
21633169 |
2011 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed a targeted mutational analysis of NOTCH1 using genomic DNA from 48 unrelated subjects with concomitant bicuspid aortic valve and thoracic aortic aneurysm using denaturing high-performance liquid chromatography and DNA sequencing.
|
17662764 |
2007 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
There is no evidence of linkage of BAV in our pedigree to either the NOTCH1 gene or to the chromosome 15 locus.
|
17716607 |
2007 |
|
Bicuspid aortic valve
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study provides data on systematic sequencing in search for novel mutations in NOTCH1 gene in a large sample BAV.
|
16729972 |
2006 |
|
Bicuspid aortic valve
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in NOTCH1 cause aortic valve disease.
|
16025100 |
2005 |
|
Bicuspid aortic valve
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|