...COL6A3) was overexpressed 62-fold and the most highly up-regulated gene. This finding is consistent with other published...
...COL6A3 gene mutation. The patient had been previously demonstrated to express an alpha3(VI) chain shorter than normal du...
...COL6A3 (2q35). The CSF1 translocations result in overexpression of CSF1. In cases of TGCT and PVNS carrying this translo...
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscula...
...COL6A3), whereas many underexpressed genes were related to DNA modification (NTHL1 and RBBP4). Apoptosis-related genes C...
...Col6a3. These data suggested that caffeine or other methyl xanthine derivatives may improve the clinical outcome in pati...
...COL6A3, FBLN1), and angiogenic factors or their receptors (VHL, ANPT1, ANPT2, TIE, TEK, NOTCH2, NOTCH3, NOTCH4, DLL4, JA...
...COL6A3, have been identified in eight of the nine UCMD patients reported thus far. A heterozygous COL6A1 gene deletion, ...
...COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethle...
...COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced.,Both haplotype an...
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