Human Collagen alpha-1(VII) chain (COL7A1) ELISA kit

Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

1. Case report of 2 potentially pathogenic variants in COL7A1 occurring on the same allele in members of a family with epidermolysis bullosa pruriginosa and autosomal dominant inheritance. PMID: 29504492
2. In summary, we present 7 novel COL7A1 mutations in a cohort of 17 Mexican RDEB patients, expanding the mutation spectrum in this disease. PMID: 29473190
3. Case Report: Epidermolysis ullosa acquisita with previously unrecognized mild dystrophic EB and biallelic COL7A1 missense mutations. PMID: 29182795
4. Mutation in COL7A1 gene is associated with Recessive Dystrophic Epidermolysis Bullosa. PMID: 29531004
5. High chimeric COL7A1-UCN2 recurrence is associated with cancer stem cell transition, promoted epithelial-mesenchymal transition in laryngeal cancer. PMID: 29499655
6. three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens. PMID: 29272047
7. Type VII collagen is distributed particularly at the strained parts of the accommodation system. Type VII collagen was associated with various basement membranes and with ciliary zonules. PMID: 29490344
8. specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits PMID: 29305555
9. COL7A1 editing via CRISPR/Cas9 in recessive dystrophic epidermolysis bullosa patients' keratinocytes in vitro has been reported. PMID: 28800953
10. Patients with RDEB carry mutations in the COL7A1 gene encoding for type VII collagen, the main component of anchoring fibrils, microstructures responsible for the anchorage of the epidermis to the underlying dermis. [review] PMID: 28126522
11. expression restored to recessive dystrophic epidermolysis bullosa skin by topical gene therapy PMID: 27117059
12. we have identified a novel glycine substitution mutation of the COL7A1 gene in two unrelated Scottish families with a DDEB phenotype. This mutation abolishes the donor splice site and results in in-frame exon skipping. This leads to dominant negative interference between the wild-type and truncated-type collagen proteins resulting in a mild phenotype. PMID: 27790721
13. Case Report: glycine substitution specific to COL7A1, exon 110, was identified in a Chinese family with epidermolysis bullosa pruriginosa. PMID: 28164502
14. COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families. PMID: 27899325
15. miR-29 Regulates COL7A1 in Recessive Dystrophic Epidermolysis Bullosa, directly through targeting its 3' untranslated region at two distinct seed regions and indirectly through targeting an essential transcription factor required for basal COL7A1 expression, SP1. PMID: 27328306
16. A total of 50% of the pro-alpha1 (VII) procollagen chains will contain the dominant COL7A1 mutation if a DDEB patient carries one mutant COL7A1 in 100% of skin cells, which will lead to dystrophic epidermolysis bullosa PMID: 26289024
17. The results in these two brothers show that COL7A1 mutation leads to persistent blistering in adulthood indicating that DEB may persist throughout life in a mild form. PMID: 26595603
18. This study is conducive to highlighting the phenotypic diversity of EBP, expanding the database on COL7A1 mutations in EBP and laying the foundation for this family's prenatal genetic counselling. PMID: 25556825
19. TANGO1 is thus pivotal in concentrating procollagen VII in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the endoplasmic reticulum. PMID: 26568311
20. Novel dystrophic epidermolysis bullosa COL7a1 framshift mutation c.5493delG (p.K1831Nfs*10) in exon 64 leads to a premature termination codon located 10 amino acids downstream in exon 64 (p.K1831Nfs*10) and is expected to result in a loss of function. PMID: 26586712
21. In conclusion, we identified a Japanese founder recurrent mutation of c.6216 + 5G > T, inducing aberrant splicing of COL7A1 and tending to cause a mild phenotype of recessive dystrophic epidermolysis bullosa PMID: 26472200
22. COL7A1 mutations have a role in Recessive Dystrophic Epidermolysis Bullosa and can be corrected meganuclease-mediated homology-directed repair PMID: 26897595
23. Type VII collagen suppresses TGFbeta signaling and angiogenesis in cutaneous SCC (squamous cell carcinoma). Patients with recessive dystrophic epidermolysis bullosa (RDEB) SCC may benefit from anti-angiogenic therapy. PMID: 26476432
24. COL7A1 mutation was diagnosed with next generation sequencing in patient with dystrophic epidermolysis bullosa. PMID: 25425313
25. Collagen Type VII missense mutation is responsible for the development of recessive bullous epidermolysis. PMID: 25639640
26. A novel dominantnegative heterozygous acceptor splice site mutation in the COL7A1 gene (IVS671G>T) was found in both our patient and his youngest son. PMID: 25566895
27. Gene therapy is successful in the treatment of hereditary epidermolysis bullosa dystrophica. PMID: 26066885
28. autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo PMID: 25689103
29. Results suggest that In children with a moderate form of DEB with no or moderate skin fragility, a glycine substitution near the THD interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon PMID: 24252097
30. The central collagenous domain of Col7 contains several interruptions of the collagen triple helix PMID: 24810542
31. anti-type VII collagen autoantibodies fluctuated in parallel with disease activity in epidermolysis bullosa acquisita PMID: 24127822
32. Study demonstrated that versican, TGFbeta1, Col7A1 and ITGbeta3 are up-regulated in isolated Cancer stem cells. PMID: 24927163
33. Case Report: hot spot mutation c.6127G>A in COL7A1 leads to dominant dystrophic epidermolysis bullosa associated with intracellular accumulation of pro-collagean VII. PMID: 24794830
34. TGM2 was identified as a stable interaction partner of collagen VII and is reduced in recessive dystrophic epidermolysis bullosa. PMID: 24732400
35. The mutations detected in our 17 DEB patients highlight the presence of both mild (DDEB) and severe phenotypes (RDEB-O and RDEB-sev gen), confirming that a more severe involvement of the oropharyngeal mucosa occurs in RDEB. PMID: 24210835
36. SLCO1B3 expression and promoter activity are modulated by COL7A1 in tumor keratinocytes isolated from recessive dystrophic epidermolysis bullosa. PMID: 24357722
37. Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa caused by mutations in type VII collagen resulting in disorganized anchoring fibrils and sublamina densa blister formation. PMID: 24117545
38. We show that revertant recessive dystrohic epidermolysis bullosa keratinocytes expressing functional C7 can be reprogrammed into induced pluripotent stem cells and self-corrected keratinocytes can be differentiated into epidermal or hematopoietic cells. PMID: 24317394
39. analysis of COL7A1 mutations in patients with recessive dystrophic epidermolysis bullosa PMID: 24213372
40. data further enhance the mutation spectrum of the LAMB3 and the COL7A1 genes, and also underscore the crucial roles of these genes in pathogenesis of epidermolysis bullosa PMID: 23769655
41. Our long-term observational study showed that this in-frame exon skipping mutation was conversely highly predictive of the pruriginosa phenotype and characterized by a very variable phenotype in terms of severity of disease. PMID: 23688405
42. Data suggest that, of the five basement membrane types present in term placental tissue and fetal membranes, just one, that associated with amnion epithelium, expresses type VII collagen. PMID: 23834951
43. immortalized and cloned recessive dystrophic epidermolysis bullosa keratinocytes carrying the c.6527insC mutation PMID: 23947675
44. We report the first case of HS-RDEB homozygous PTC mutations of 5818delC in both COL7A1 alleles. PMID: 23679163
45. Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. PMID: 22974128
46. We describe three families with multiple affected members in which epidermolysis bullosa prurigosa variant shows autosomal-dominance and all three previously unreported COL7A1 mutations were identified. PMID: 23106673
47. The wide diversity of clinical phenotypes with one underlying genotype demonstrates that COL7A1 mutations are incompletely penetrant and strongly suggests that other genetic and environmental factors influence clinical presentation. PMID: 22515571
48. Loss of collagen VII has a global impact on the cellular microenvironment in recessive dystrophic epidermolysis bullosa patients. PMID: 23591773
49. Mutation in COL7A1 caused a broad range of severity of disease in a family with pretibial epidermolysis bullosa. PMID: 23624125
50. We report six Chinese cases with Epidermolysis Bullosa Pruriginosa, who had four novel and two previously reported mutations leading to glycine substitutions of COL7A1. PMID: 23397949

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Epidermolysis bullosa dystrophica, autosomal dominant (DDEB); Epidermolysis bullosa dystrophica, autosomal recessive (RDEB); Transient bullous dermolysis of the newborn (TBDN); Epidermolysis bullosa dystrophica, pretibial type (PR-DEB); Epidermolysis bullosa dystrophica, Bart type (B-DEB); Epidermolysis bullosa pruriginosa (EBP); Nail disorder, non-syndromic congenital, 8 (NDNC8); Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC)

Secreted, extracellular space, extracellular matrix, basement membrane.

HGNC: 2214

OMIM: 120120

KEGG: hsa:1294

STRING: 9606.ENSP00000332371

UniGene: Hs.476218