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Missense mutations in COL6A1, COL11A2, FGFR1 (show FGFR1 Proteins), and BMP2 (show BMP2 Proteins) genetically predispose patients to ossification of posterior longitudinal ligaments.
We have used RNA-Seq to identify differentially expressed genes in cultured dermal fibroblasts from 13 COL6-RD individuals (8 dominant negative and 5 null) and 6 controls. To better assess the transcriptional changes induced by abnormal collagen VI in the extracellular matrix (ECM (show MMRN1 Proteins)); we compared transcriptional profiles from subjects with DN mutations and subjects with null mutations to transcriptional profiles
Data suggest that, compared with obese white women, obese black women exhibit higher expression of HIF1A (hypoxia inducible factor 1 alpha (show HIF1A Proteins)), COL5A1 (collagen Valpha1), and COL6A1 (collagen VIalpha1) in gluteal but not abdominal subcutaneous adipose tissue depots; up-regulation of expression of these proteins correlates with reduced insulin (show INS Proteins) sensitivity in black women only.
COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma (show MOK Proteins)
worsening of the functional disability appeared typically after the age of 40 in 47% of our patients with Bethlem myopathy, and was frequently associated with COL6A1 exon 14 skipping
The second main finding of this study was that COL6A1 rs35796750 did not associate with the risk of anterior cruciate ligament injury in the self-reported Caucasian South African cohort.
Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma.
Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2 (show COL6A2 Proteins), and COL6A3 (show COL6a3 Proteins)) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring.
In UCDM, 1 mutation was indentified in COL6A1 in Chinese patients.
These results suggest that these SNPs of BMP-2 (show BMP2 Proteins) and COL6A1 may not directly influence the expression of OPLL.
Col6a1-/- neural cultures displayed an increased incidence of spontaneous apoptosis and higher vulnerability to oxidative stress, accompanied by altered regulation of autophagy with increased p62 (show GTF2H1 Proteins) protein levels and decreased LC3 (show MAP1LC3A Proteins) lipidation. Analysis of brain sections confirmed increased apoptosis and abnormal regulation of autophagy in the CNS of collagen VI-deficient animals.
This study demonstrates that Col6a1-Cre driver mice are as useful as Twist2 (show TWIST2 Proteins)-Cre driver mice for functional analyses of GALT (show GALT Proteins)-resident mesenchymal cells, including MCi (show MCIN Proteins) cells.
Confocal laser scanning microscopy co-localised perlecan (show HSPG2 Proteins) with type VI collagen as pericellular components of intervertebral disc (IVD (show IVD Proteins)) cells and translamellar cross-bridges in ovine and murine IVDs.
this paper shows deregulation of the circadian rhythmic process in Col6a1-/- mice
Results show that a lack of collagen VI in Col6a1 -/- mice prevents macrophage recruitment and phenotypic transition after sciatic nerve crush, which in turn inhibits peripheral nervous system regeneration
Col6a1 was not required for TRPV4 (show TRPV4 Proteins)-mediated Ca signaling. Knockout of Col6a1 altered the mechanical properties of the pericellular matrix, which increased the extent of cell swelling and osmotically induced TRPV4 (show TRPV4 Proteins) signaling in an age-dependent manner.
Detected is a decreased tensile strength of the skin and an altered collagen fibril and basement membrane architecture in Col6a1 null mice, the latter being features that are also found in collagen VI myopathy patients.
Lack of collagen VI in Col6a1(-/-) mice causes impaired muscle regeneration and reduced satellite cell self-renewal capability after injury.
The expression of Col6a1 in 10T1/2 was also significantly higher than that in other feeder cells. It promoted the colony formation of epithelial cells in vitro effectively.
Physical training exacerbated the dystrophic phenotype of Col6a1-/- mice, where autophagy flux is compromised.
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.
alpha 1 (VI) chain (61 AA)
, collagen VI, alpha-1 polypeptide
, collagen alpha-1(VI) chain
, procollagen, type VI, alpha 1
, alpha-1 type VI collagen
, collagen VI-alpha1 protein
, type VI collagen alpha 3 chain
, collagen, type VI, alpha 1
, type IV collagen alpha 1 subunit
, collagen type VI alpha 1 chain
, type VI collagen alpha-1 chain