|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN.
|
14556246 |
2003 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
LHGDN |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Except for elastin, hemizygosity of which is associated with supravalvular aortic stenosis, it is unknown which of the 18 genes in the deletion area contributes to the phenotype.
|
11978965 |
2001 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
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 |
Finally, we have demonstrated reduced synthesis and secretion of tropoelastin by skin fibroblasts from the same SVAS patient.
|
10942104 |
2000 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
Elastin hemizygosity is associated with supravalvular aortic stenosis and other vascular stenoses.
|
11180224 |
2000 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
SVAS is associated with haploinsufficiency of elastin, one of the two major components of the elastic fibers.
|
10885576 |
2000 |
|
Supravalvular aortic stenosis
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Finally, we have demonstrated reduced synthesis and secretion of tropoelastin by skin fibroblasts from the same SVAS patient.
|
10942104 |
2000 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mice harboring targeted deletion of the elastin gene (ELN) show many of the features of SVAS in humans, including abnormalities in the vascular wall and altered hemodynamics associated with changes in wall compliance.
|
11068202 |
2000 |
|
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
GeneticVariation
|
disease |
BEFREE |
This review considers the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac disease.
|
9986885 |
1999 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in the elastin gene are known to cause the heart defect supravalvular aortic stenosis (SVAS).
|
9580666 |
1998 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
BEFREE |
We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis (SVAS).
|
9860302 |
1998 |
|
Supravalvular aortic stenosis
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SVAS is the result of mutation or deletion of the elastin gene (ELN), located at chromosome 7q11.23.
|
9649945 |
1998 |
|
Supravalvular aortic stenosis
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |