|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of elastin mutations in families with supravalvar aortic stenosis has enabled the identification of potentially large deletions that include one elastin allele in individuals with Williams syndrome.
|
8776022 |
1995 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder.
|
11175284 |
2000 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Taken together with our previous study linking SVAS to the elastin gene in two additional families and existing knowledge of vascular biology, these data suggest that mutations in the elastin gene can cause SVAS.
|
8096434 |
1993 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The underlying cause of congenital supravalvular aortic stenosis (SVAS) has recently been identified as a loss-of function mutation of the elastin gene on chromosome 7q11.23, resulting in an obstructive arteriopathy of varying severity, which is most prominent at the aortic sinutubular junction.
|
11167112 |
2001 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis.
|
10533027 |
1999 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS.
|
19844261 |
2010 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We propose a model for point-mutation SVAS in which aberrant tropoelastin molecules are incompetent and are mainly excluded from participation in coacervation and consequently in elastogenesis.
|
10542079 |
1999 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the SVAS group, 1/7 (14%) had an elastin gene deletion, despite having normal development and minimal signs of WBS.
|
9004128 |
1996 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVAS is the result of a mutation of elastin at 7q11.23 region.
|
8362925 |
1993 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The association of supravalvar aortic stenosis and elastin gene mutations was further strengthened.
|
7787263 |
1995 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Elastin haploinsufficiency causes the cardiovascular complications associated with Williams-Beuren syndrome and isolated supravalvular aortic stenosis.
|
22049077 |
2011 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that mutations in the elastin gene cause SVAS and suggest that elastin exons 28-36 may encode critical domains for vascular development.
|
8132745 |
1994 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The disease gene has been identified on the elastin gene (ELN) and two types of SVAS have been categorized; a familial type and an isolated type with the de novo mutation.
|
31560829 |
2019 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data demonstrate that point mutations of ELN cause autosomal dominant SVAS.
|
9215670 |
1997 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of the elastin gene (ELN) on 7q11.23 is responsible for supravalvular aortic stenosis (SVAS) and other arteriopathies in patients with Williams-Beuren syndrome (WBS).
|
23401415 |
2013 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN.
|
9215671 |
1997 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities.
|
20425789 |
2010 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Clinical symptoms that are associated with hemizygosity of the essential extracellular matrix protein elastin include premature aging of the skin and supravalvular aortic stenosis.
|
27311421 |
2016 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
These findings indicate that a gene for supravalvular aortic stenosis is located in the same chromosomal subunit as elastin, which becomes a candidate for the disease gene.
|
8475063 |
1993 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, the reduced net deposition of insoluble elastin in arterial walls of patients with either SVAS or WBS leads to the increased proliferation of arterial SMCs.
|
12016585 |
2002 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have identified two elastin gene (ELN) mutations located in cis in two related families with supravalvular aortic stenosis (SVAS).
|
11735026 |
2001 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features.
|
19568270 |
2010 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A new mutation in the elastin gene causing supravalvular aortic stenosis.
|
10190538 |
1999 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.
|
10190324 |
1999 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Finally, we have demonstrated reduced synthesis and secretion of tropoelastin by skin fibroblasts from the same SVAS patient.
|
10942104 |
2000 |