Pages that link to "Q24291045"
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The following pages link to COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II (Q24291045):
Displaying 18 items.
- Collagen type V alpha 1 chain (Q5145890) (← links)
- Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin (Q24309491) (← links)
- Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome (Q24337270) (← links)
- Biased exon/intron distribution of cryptic and de novo 3' splice sites (Q24817064) (← links)
- Regulation of collagen fibril nucleation and initial fibril assembly involves coordinate interactions with collagens V and XI in developing tendon (Q28512376) (← links)
- Development of a functional skin matrix requires deposition of collagen V heterotrimers (Q28593642) (← links)
- Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. (Q33909884) (← links)
- First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome (Q34398977) (← links)
- Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency (Q34410196) (← links)
- Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model (Q35630667) (← links)
- Vascular extracellular matrix and aortic development. (Q35937596) (← links)
- Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations (Q36843308) (← links)
- Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization (Q39113625) (← links)
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review (Q47859621) (← links)
- In vivo evidence for a bridging role of a collagen V subtype at the epidermis-dermis interface (Q47995528) (← links)
- Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria (Q49160999) (← links)
- Dentinogenesis imperfecta-associated syndromes. (Q52126512) (← links)
- Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome (Q90224278) (← links)