COL6A1 Antibody

1. FKBP10 interacts with collagen VI and deficiency of FKBP10 reduces lung fibroblast migration by down-regulation of collagen VI synthesis. PMID: 29673351
2. 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. PMID: 29764467
3. 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 PMID: 28984114
4. The polypeptide is a novel non-triple helical polypeptide of type VI collagen alpha1 chain encoded by COL6A1, or NTH alpha1(VI). PMID: 29659864
5. Missense mutations in COL6A1, COL11A2, FGFR1, and BMP2 genetically predispose patients to ossification of posterior longitudinal ligaments. PMID: 27246988
6. 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 PMID: 29244830
7. These data demonstrate, for the first time, a functional relationship between collagens VI and XII during osteogenesis. PMID: 26753503
8. COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma PMID: 26317545
9. upregulated in the airways of chronic obstructive pulmonary disease patients and exposed upon epithelial desquamation PMID: 25925694
10. is the first report of UCMD recurrence in 2 siblings due to a germline mosaic COL6 gene mutation PMID: 25978941
11. 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 PMID: 25535305
12. 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. PMID: 25073002
13. Type VI collagen and activated retinal Muller cells are present in iERM. PMID: 26447986
14. Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma. PMID: 25325876
15. Data suggest the potential role of COL6 in promoting lung neoplasia in diseased lungs where COL6 is overexpressed. PMID: 25176343
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. PMID: 25204870
17. In UCDM, 1 mutation was indentified in COL6A1 in Chinese patients. PMID: 24801232
18. These results suggest that these SNPs of BMP-2 and COL6A1 may not directly influence the expression of OPLL. PMID: 24737472
19. Absence of ANXA2 leads to retention of COL6 in a late-Golgi, VAMP2-positive compartment. PMID: 24357721
20. Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review) PMID: 24443028
21. The resulting proposed clinical classification system of collagen VI-related myopathy is unique in that it is based on the integration of both motor function and pulmonary function criteria. PMID: 24271325
22. XPD mutations in trichothiodystrophy hamper COL6A1 expression. PMID: 23221806
23. TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC. PMID: 22583932
24. the COL6A1 rs35796750 TT genotype is associated with increased performance during the bicycling of the South African Ironman triathlon PMID: 22012643
25. 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. PMID: 21037586
26. This study revealed several genotype-phenotype correlations, providing new insights into the natural history and course of ColVI myopathies. PMID: 20976770
27. COL6 genes encoding type VI collagen PMID: 11932968
28. Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded PMID: 12011280
29. Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures caused by mutations in the COL6A1 gene. PMID: 12374585
30. Collagen VI deficiency might have caused electron microscopic changes of capillaries, while function of capillaries is apparently retained. PMID: 12736748
31. a de novo heterozygous deletion of the COL6A1 gene results in a severe phenotype of classical Ullrich congenital muscular dystrophy PMID: 12840783
32. linkage disequilibrium and association studies that SNPs in the collagen 6A1 gene (COL6A1) were strongly associated with Ossification of the posterior longitudinal ligament PMID: 12958705
33. The failure of collagen VI to anchor the basal lamina to the interstitium is the cause of Ullrich disease. PMID: 14981181
34. dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD). PMID: 15563506
35. we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype. PMID: 16130093
36. COL6A1 could be responsible for the hyperostotic state, leading to ectopic bone formation in the spinal ligament. PMID: 16227896
37. beta ig-h3 can differentially modulate the aggregation of collagen VI with biglycan and decorin PMID: 16434404
38. Major promoter and enhancer sequences regulating COL6A1 expression are present in this bacterial artificial chromosome clone. PMID: 17334655
39. This study identified a novel homozygous COL6A1 premature termination mutation in a UCMD patient that causes nonsense-mediated mRNA decay. PMID: 17537636
40. This study demonstrates a homogeneous overexpression of the genes encoding for alpha1 and alpha2 chains for collagen type VI in nuchal skin of human trisomy 21 fetuses. PMID: 17602442
41. COL6A1 may be a common susceptibility gene for ossification of the ligamentum flavum and ossification of the posterior longitudinal ligament in Chinese Han population. PMID: 18246005
42. Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3. PMID: 18366090
43. Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy (BM). It can be used to guide molecular genetic testing in a cost-effective and time-saving manner. PMID: 18378883
44. Results found COL6A1 to be differentially expressed in human astrocytomas. PMID: 18551403
45. SNP of COL6A1 were not related to radiographic progression of ankylosing spondylitis. PMID: 18634150
46. These data indicate that collagen VI glycine mutations impair the assembly pathway in different ways and disease severity correlates with the assembly abnormality. PMID: 18825676
47. Four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6 genes affecting RNA splicing, were identified. PMID: 19309692

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HGNC: 2211

OMIM: 120220

KEGG: hsa:1291

STRING: 9606.ENSP00000355180

UniGene: Hs.474053