|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This preliminary study implies that the rs2856728 variant in ELN gene polymorphisms might play crucial roles in the development and pathogenesis of IA in Korean population.
|
29129841 |
2018 |
|
Intracranial Aneurysm
|
0.100 |
Biomarker
|
disease |
BEFREE |
Conclusions The present study revealed that a significantly higher concentration of soluble human elastin fragments in the lumen of ruptured intracranial aneurysms when compared with nonruptured ones.
|
30371156 |
2018 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
|
27866049 |
2017 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In order to decrease the uncertainty of estimated genetic risk effects, a meta-analysis of published GAS-related variants in the ELN gene (ELN INT20 1315T > C, EX20 1264G > A, INT23 1501 + 24T > C and INT4 196 + 71G > A) with susceptibility to IA was conducted using a genetic model-free approach.
|
27687579 |
2017 |
|
Intracranial Aneurysm
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, our study indicates that the elastin gene may be associated with the formation of IAs, and importantly, that it may also be associated with the rupture of IAs.
|
23294012 |
2013 |
|
Intracranial Aneurysm
|
0.100 |
Biomarker
|
disease |
BEFREE |
We found that the SNPs of LOXL2 have an interactive effect with elastin (ELN) and LIM kinase 1 (LIMK1) that have been previously found to be associated with IA.
|
17287949 |
2007 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These regions contain elastin (ELN), nitric oxide synthetase 2A (NOS2A), apolipoprotein E (APOE), and angiotensin-I converting enzyme 2 (ACE2), which are considered to be promising candidate genes for IA.
|
16574921 |
2006 |
|
Intracranial Aneurysm
|
0.100 |
Biomarker
|
disease |
BEFREE |
Elastin and LIMK1 protein are involved in the same actin depolymerization signaling pathway; therefore, these lines of evidence suggest a combined effect of the SNPs in the at-risk haplotype possibly by weakening the vascular wall and promoting the development of IA.
|
16611674 |
2006 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There was no evidence for segregation of the ELN variants found in IA cases with the hypothesized chromosome 7 haplotypes segregating in pedigrees.
|
15890991 |
2005 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of these genes, elastin and collagen type 1A2 are the most promising candidates, because allelic association with intracranial aneurysms has also been shown for these genes.
|
15721828 |
2005 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This region contains the elastin gene (ELN, OMIM 130160), which is a functional candidate gene for IA.
|
14605871 |
2004 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found no association between SNPs and haplotypes of the elastin gene and the occurrence of IA in our Caucasian populations.
|
15218274 |
2004 |
|
Intracranial Aneurysm
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Lysyl oxidase is a promising candidate gene for a mutation search in intracranial aneurysm families because (a) it controls the processing, cross-linking and maturation of collagen and elastin fibers in the blood vessel wall, (b) its expression levels and activity are altered in different animal models of aneurysm pathogenesis, and (c) it is encoded within the chromosome 5q22-31 region of suggestive linkage to intracranial aneurysms.
|
15273433 |
2004 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
We found no association between SNPs and haplotypes of the elastin gene and the occurrence of IA in our Caucasian populations.
|
15218274 |
2004 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A locus containing the elastin gene has been linked to familial intracranial aneurysms in 2 distinct populations.
|
15297630 |
2004 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found no allelic association between this elastin polymorphism haplotype and intracranial aneurysm.
|
12690215 |
2003 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
We found no allelic association between this elastin polymorphism haplotype and intracranial aneurysm.
|
12690215 |
2003 |
|
Intracranial Aneurysm
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The best evidence of linkage is detected at D7S2472, in the vicinity of the elastin gene (ELN), a candidate gene for IA.
|
11536080 |
2001 |