Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
|
22038052 |
2012 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
|
22038052 |
2012 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, stroke is a well-known complication of several heritable connective tissue disorders, including Marfan's syndrome (FBN1 mutations) and Ehlers-Danlos syndrome type IV (COL3A1 mutations), which predispose to cervical artery dissection, the most frequent cause of cerebral ischemia at young age.
|
22113147 |
2012 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
|
22038052 |
2012 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
BEFREE |
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy.
|
21637106 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture.
|
21071432 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ehlers-Danlos syndrome, vascular type (vEDS) (MIM #130050) is an autosomal dominant disorder caused by type III procollagen gene (COL3A1) mutations.
|
21219851 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A mouse model of EDS IV produced by targeted ablation of Col3a1 has been of limited use as only 10% of homozygous animals survive to adulthood, whereas heterozygous animals do not die from arterial rupture.
|
21071432 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
|
22019127 |
2011 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Vascular-type Ehlers-Danlos syndrome (vEDS) is a severe autosomal dominant inherited disorder resulting from mutations within the α1 type III collagen gene (COL3A1).
|
20518783 |
2010 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Inferring the functional effects of mutation through clusters of mutations in homologous proteins.
|
20052764 |
2010 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
|
20518783 |
2010 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management.
|
19248182 |
2009 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
|
18043893 |
2008 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
|
18043893 |
2008 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.
|
17728513 |
2007 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery.
|
17122455 |
2006 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
|
15365990 |
2004 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV.
|
12786757 |
2003 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
BEFREE |
We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis.
|
12694234 |
2003 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Collagens--structure, function, and biosynthesis.
|
14623400 |
2003 |
Ehlers-Danlos Syndrome, Type IV
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS-IV.
|
12786757 |
2003 |