Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.
overexpressed circCOL6A3 promoted cell proliferation migration and apoptosis of gastric cancer through rescission of miR-3064-5p-induced inhibitory effect on COL6A3; study will furnish theoretical grounds for future clinical diagnosis and treatment of GC patients
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.
COL6A3 could influence the viability and angiogenesis of bladder cancer cells. COL6A3 may have a certain relationship with the TGF-beta/Smad-induced EMT process.
The morphology and immunophenotype of all 6 cases was analogous to those with the canonical COL1A1-PDGFB fusion; none of the cases showed fibrosarcomatous transformation. This study illustrates that the COL6A3-PDGFD fusion product is rare in dermatofibrosarcoma protuberans and associated with an apparent predilection for breast
Study found COL6A3 expression to be downregulated and associated with poor prognosis in human colorectal cancer (CRC). In silico analysis of cell typespecific gene expression and COL6A3 knockout experiments indicated the clinical relevance of COL6A3 in the development of CRC.
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