Pages that link to "Q24320166"

The following pages link to 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 (Q24320166):

Displaying 26 items.

• Collagen type III alpha 1 chain (Q5145885) (← links)
• Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome (Q24631384) (← links)
• Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis (Q24683656) (← links)
• Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries (Q27652260) (← links)
• Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition (Q28590272) (← links)
• Endoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis (Q30235128) (← links)
• Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding (Q30541004) (← links)
• Update on immunoelectron microscopy in diagnostic dermatopathology and cutaneous biology (Q33690110) (← links)
• cDNA sequence and expression of the mouse alpha1(V) collagen gene (Col5a1). (Q34467740) (← links)
• Location of Glycine Mutations within a Bacterial Collagen Protein Affects Degree of Disruption of Triple-helix Folding and Conformation (Q34503185) (← links)
• Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes (Q35402977) (← links)
• Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study (Q35882052) (← links)
• The final stage of gene expression: chaperones and the regulation of protein fate (Q41602460) (← links)
• 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. (Q43104755) (← links)
• Vascular Ehlers-Danlos syndrome: exploring the role of inflammation in arterial disease (Q43150240) (← links)
• Tenascin-X deficiency is associated with Ehlers-Danlos syndrome (Q43500561) (← links)
• Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene (Q46556412) (← links)
• Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. (Q48217824) (← links)
• Concomitant Retroperitoneal and Subarachnoid Hemorrhage Due to Segmental Arterial Mediolysis : Case Report and Review of the Literature (Q48366569) (← links)
• Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene. (Q53225417) (← links)
• Equimosis y disnea en un varón de 66 años (Q58132358) (← links)
• Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. (Q65950306) (← links)
• Collagen fibril network and elastic system remodeling in a reconstructed skin transplanted on nude mice (Q77111746) (← links)
• Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers-Danlos syndrome (Q84049839) (← links)
• Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes (Q92597178) (← links)
• The Ehlers-Danlos syndromes (Q98176931) (← links)