Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

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http://www.wikidata.org/entity/Q24320166
Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndromeMice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesisCrystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetriesEndoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis.Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding.Location of glycine mutations within a bacterial collagen protein affects degree of disruption of triple-helix folding and conformation.Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes.Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.The final stage of gene expression: chaperones and the regulation of protein fate.Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.Vascular Ehlers-Danlos syndrome: exploring the role of inflammation in arterial disease.Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene.Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.Concomitant Retroperitoneal and Subarachnoid Hemorrhage Due to Segmental Arterial Mediolysis : Case Report and Review of the Literature.Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
P2860

Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis

Item
http://www.wikidata.org/entity/Q24320166
description
1997 nî lūn-bûn
@nan
1997 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մարտին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@ast
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@en
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@en-gb
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@nl
type
label
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@ast
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@en
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@en-gb
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@nl
prefLabel
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@ast
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@en
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@en-gb
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P577
P5875
P6179
P698
P921
P356
P1433
P1476
Mutations in the COL3A1 gene r ...... collagen fibrils of the dermis
@en
P2093
P2888
P304
P31
P356
10.1111/1523-1747.EP12286441
P407
P433
P478
P577
P5875
P6179
P698
P921