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COL8a2 encodes the alpha 2 chain of type VIII collagen. Additionally we are shipping COL8a2 Antibodies (53) and COL8a2 Proteins (9) and many more products for this protein.
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Human COL8a2 ELISA Kit for Sandwich ELISA - ABIN812960
Ueno, Asada, Toda, Schlötzer-Schrehardt, Nagata, Montoya, Sotozono, Kinoshita, Hamuro: Gene Signature-Based Development of ELISA Assays for Reproducible Qualification of Cultured Human Corneal Endothelial Cells. in Investigative ophthalmology & visual science 2016
Analysis of SLC4A11, ZEB1 (show ZEB1 ELISA Kits), LOXHD1, COL8A2 and TCF4 (show TCF4 ELISA Kits) gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree.
Peripheral, anterior microcystic corneal edema represents a characteristic aspect of the phenotype associated with the p.(Leu450Trp) substitution in COL8A2, in at least 2 of 3 known affected families worldwide.
No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this Late-onset Fuchs endothelial corneal dystrophy (FECD) family.
mutations in the COL8A2 gene do not contribute to all cases of early-onset early-onset Fuchs' endothelial corneal dystrophy .
Variation in the COL8A2, SLC4A11, and ZEB1 (show ZEB1 ELISA Kits) genes is present in only a small fraction of African American cases and as such does not appear to significantly contribute to the genetic risk of Fuchs endothelial corneal dystrophy.
Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with Eosionophilic esophagitis and inherited connective tissue disorders.
Association of central corneal thickness with TCF4 (show TCF4 ELISA Kits) was also significant (p = 6.1x10(-7)), but was abolished with adjustment for FECD grade (p = 0.92).
Single nucleotide polymorphisms in COL8A2 gene is not associated with central corneal thickness in glaucoma.
Report cellular model in which collagen VIII mutations, which clinically result in Fuchs' dystrophy, are associated with abnormal cellular accumulation of collagen VIII.
The purpose of this study is to evaluate COL8A1 (show COL8A1 ELISA Kits) and COL8A2 as candidate genes for thin central corneal thickness in human primary open angle glaucoma patients.
Overexpression of the Col8a2 gene in mouse and human Fuchs endothelial corneal dystrophy endothelial cells suggested a role for altered autophagy in this disease.
in contrast to diabetic wild-type mice EMT-like changes were attenuated in diabetic Col8alpha1/alpha2-KO mice, indicating that collagen VIII may be 1 of the major inducers of epithelial-to-mesenchymal transition-like changes in kidneys of diabetic wild-type mice
study confirms the Q455K substitution in the COL8A2 gene as being sufficient to cause FECD in the first mouse model of this disease and supports the role of the UPR and UPR-associated apoptosis in the pathogenesis of FECD caused by COL8A2 mutations
Type VIII collagen significantly modulates the effect of TGF-beta1 (show TGFB1 ELISA Kits) on mesangial cells and may therefore play a role in the pathogenesis of diabetic nephropathy.
Smooth muscle cells can modify the matrix microenvironment by producing type VIII collagen, using it to overlay type I collagen, and generating a substrate favorable for migration
Lack of type VIII collagen confers renoprotection in diabetic nephropathy in a knockout mouse model.
The mouse mutant Aca23 described here offers the first point mutation of the Col8a2 gene and suggests that a functional collagen VIII alpha2 gene is essential for the correct assembly of the Descemet's membrane and for corneal stability.
This gene encodes the alpha 2 chain of type VIII collagen. The protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2.
collagen, type VIII, alpha 2
, collagen alpha-2(VIII) chain
, collagen VIII, alpha-2 polypeptide
, collagen type VIII alpha 2
, dJ665N4.1 (collagen type VIII alpha 2)
, endothelial collagen
, procollagen type VIII alpha 2
, procollagen, type VIII, alpha 2