anti-Collagen, Type VI, alpha 3 (COL6a3) Anticorps

Mouse (Murine) Collagen, Type VI, alpha 3 (COL6a3) interaction partners

1. Overexpression of endotrophin caused upregulation of adipogenic genes in the white adipose tissue(WAT) of endotrophin transgenic mice. The mice exhibited inhibited lipolysis and accelerated hypertrophy and hyperplasia in WAT.

2. Data indicate that overexpression of endotrophin (COL6alpha3) locally in adipose tissue promotes metabolic dysfunction under a high-fat diet (HFD) challenge.

3. Data show that the TFIID subunit TAF4 is essential to restrain the growth promoting properties of collagen 6A3 (Col6a3).

4. mice lacking normal alpha3(VI) collagen chains display mild musculoskeletal phenotypes similar to mice deficient in the alpha1(VI) collagen alpha chain, suggesting that alpha3(VI) collagen does not elicit essential functions in normal growth and development

5. analysis of collagen VI chains alpha4, alpha5, and alpha6with high homology to the alpha3 chain

Human Collagen, Type VI, alpha 3 (COL6a3) interaction partners

1. two patients were diagnosed as spontaneous collagen type -related myopathy and carried different variants of COL6A3 gene

2. 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.

3. Altered white matter structure especially in various parts of the cerebello-thalamo-cortical network in dystonia patients with COL6A3 mutations.

4. This study demonstrates that COL1A2, COL6A3, and THBS2 gene silencing inhibits gastric cancer cell proliferation, migration, and invasion while promoting apoptosis through the PI3K-Akt signaling pathway.

5. 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.

6. 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

7. 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.

8. COL6A mutation Congenital Muscular Dystrophy showed the muscle weakness and poor respiratory function.

9. two compound heterozygous mutations in COL6A3 gene lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

10. COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution.

11. Overexpression of endotrophin led to a fibrotic program in white adipose tissue (WAT) adipocytes, a proinflammatory program in (WAT) macrophages, and upregulation of both profibrotic and proinflammatory genes in the stromal vascular fraction isolated from WAT.

12. Patients with chronic kidney disease (CKD) are at increased risk of end-stage renal disease (ESRD) and early mortality. Serum endotrophin, a COL6A3 cleavage product was significantly associated with progression to ESRD.

13. In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question.

14. Data indicate that circulating plasma COL6A3 in colorectal cancer (CRC) patients was upregulated significantly comparing with healthy peoples.

15. COL6A mutations were identified in eight cases having clinical phenotypes of Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM).

16. 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.

17. Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

18. Increased adipocyte COL6A3 expression associates with insulin resistance; COL6A3 mRNA associates with small adipocyte size

19. The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene is associated with the Bethlem myopathy with autosomal dominant inheritance.

20. This study showed that COL6A3 expression appeared to be lowered in obesity, whereas diet- and surgery-induced weight loss increased COL6A3 expression.