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The most frequent mutation in a series of 16 Bethlem myopathy patients was the COL6A3 variant c.7447A>G, p.Lys2486Glu, with either an homozygous or compound heterozygous presentation. Five new mutations were found in COL6A1 gene and other two in COL6A3 gene, all of them with a dominant heritability pattern.
determined the common epitope between COL4A1 and COL6A1 as PXXGXPGLRG, with surface plasmon resonance analyses revealing KD values for the COL4A1 epitope as 5.56+/-1.81x10-9 M and for the COL6A1 epitope as 7.15+/-0.44x10-10 M
FKBP10 interacts with collagen VI and deficiency of FKBP10 reduces lung fibroblast migration by down-regulation of collagen VI synthesis.
Five SNPs in the COL6A1 (and IL17RC) genes were found to be associated with susceptibility to ossification of the posterior longitudinal ligament in Han Chinese patients.
the donor splice site of COL6A1 intron 14, associated with the phenotype of Bethlem myopathy or intermediate form, is a hot spot for ColVI myopathies
The polypeptide is a novel non-triple helical polypeptide of type VI collagen alpha1 chain encoded by COL6A1, or NTH alpha1(VI).
Missense mutations in COL6A1, COL11A2, FGFR1, and BMP2 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); 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), 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 sensitivity in black women only.
These data demonstrate, for the first time, a functional relationship between collagens VI and XII during osteogenesis.
COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma
upregulated in the airways of chronic obstructive pulmonary disease patients and exposed upon epithelial desquamation
is the first report of UCMD recurrence in 2 siblings due to a germline mosaic COL6 gene mutation
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.
Type VI collagen and activated retinal Muller cells are present in iERM.
Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma.
Data suggest the potential role of COL6 in promoting lung neoplasia in diseased lungs where COL6 is overexpressed.
Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) 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 data indicated an inhibitory role of ColVI in ENCC migration and suggested that ColVI suppression in the intestine might represent a novel therapeutic strategy for aganglionic colonic diseases.
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 protein levels and decreased LC3 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-Cre driver mice for functional analyses of GALT-resident mesenchymal cells, including MCi cells.
Confocal laser scanning microscopy co-localised perlecan with type VI collagen as pericellular components of intervertebral disc (IVD) 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-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 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.
results indicate that collagen VI is a critical component of PNS contributing to the structural integrity and proper function of peripheral nerves
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.
Altered trabecular bone structure and delayed cartilage degeneration in the knees is seen in collagen VI null mice.
Physical training exacerbated the dystrophic phenotype of Col6a1-/- mice, where autophagy flux is compromised.
Deletion of type VI collagen in this knockout model plays a critical protective role after myocardial infarct by limiting infarct size, chronic apoptosis, aberrant remodeling, and fibrosis, leading to preservation of cardiac function.
Type VI collagen deficiency distorted the shape of osteoblasts both in the cancellous bone and in the cambium layer of periosteal region. Furthermore, type VI collagen deficiency disorganized collagen arrangement.
the accumulation of abnormal mitochondria and sarcoplasmic reticulum is caused by a defect of autophagy and that restoration of a proper autophagic flux in Col6a1-/- muscles ameliorates these alterations.
Membrane elasticity was significantly reduced in Col6a1-/- and increased in mdx fibers.
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
the Col6a1 promoter has a growth arrest responsive region responsible for transcriptional regulation
a Col6a1 gene enhancer region that is necessary for activation of transcription in connective tissue cells associated with skeletal muscle.
The distribution of type II and VI collagen was immunocytochemically investigated in bovine articular and nasal cartilage.
the col6a1ama605003-line is the first adult zebrafish model of collagen VI-related diseases; it will be instrumental both for basic research and drug discovery assays focusing on this type of disorders.
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