×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
GeneticVariation
disease
BEFREE
Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1 .
23688910
2014
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
24922459
2014
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
Biomarker
disease
CLINGEN
Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report.
23374456
2013
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
GeneticVariation
disease
BEFREE
A new COL3A1 mutation in Ehlers-Danlos syndrome type IV .
23489429
2013
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
GeneticVariation
disease
CLINVAR
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.
22492385
2012
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
Biomarker
disease
BEFREE
Loss of Col3a1 , the gene for Ehlers-Danlos syndrome type IV , results in neocortical dyslamination.
22235340
2012
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
22038052
2012
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
Biomarker
disease
CLINGEN
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
22038052
2012
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
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
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
GeneticVariation
disease
CLINVAR
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.
22038052
2012
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
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
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
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
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
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
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
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
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
22019127
2011
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
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
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
GeneticVariation
disease
CLINVAR
Inferring the functional effects of mutation through clusters of mutations in homologous proteins.
20052764
2010
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
20518783
2010
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
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
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
Collagen structure and stability.
19344236
2009
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
GeneticVariation
disease
CLINVAR
Collagen structure and stability.
19344236
2009
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
GeneticVariation
disease
CLINVAR
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
18043893
2008
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV.
18043893
2008
×
Entrez Id:
1281
Gene Symbol:
COL3A1
COL3A1
1.000
CausalMutation
disease
CLINVAR
Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.
17728513
2007