collagen type vii

Summary

Summary: A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.

Top Publications

  1. Jiang W, Bu D, Yang Y, Zhu X. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venereol. 2002;82:187-91 pubmed
    ..Clinical features and pedigree analysis suggest that 6899A-->G substitution is a mutation with full penetrance and variable expressivity. ..
  2. Wertheim Tysarowska K, Sobczynska Tomaszewska A, Kowalewski C, Skroński M, Swięćkowski G, Kutkowska Kazmierczak A, et al. The COL7A1 mutation database. Hum Mutat. 2012;33:327-31 pubmed publisher
    ..separated values) data format download option. This compilation of COL7A1 data and nomenclature is aimed at assisting molecular and clinical geneticists to enhance the collaboration between researchers worldwide. ..
  3. Woodley D, Ram R, Doostan A, Bandyopadhyay P, Huang Y, Remington J, et al. Induction of epidermolysis bullosa acquisita in mice by passive transfer of autoantibodies from patients. J Invest Dermatol. 2006;126:1323-30 pubmed
    ..These passive transfer studies demonstrate that human EBA autoantibodies are pathogenic. This novel EBA mouse model can be used to further investigate EBA autoimmunity and to develop possible therapies. ..
  4. Licarete E, Ganz S, Recknagel M, Di Zenzo G, Hashimoto T, Hertl M, et al. Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases. BMC Immunol. 2012;13:16 pubmed publisher
    ..The new immunoassay should prove a useful tool for clinical and translational research and should improve the routine diagnosis and disease monitoring in diseases associated with collagen VII-specific autoimmunity. ..
  5. Pendaries V, Gasc G, Titeux M, Leroux C, Vitezica Z, Mejia J, et al. Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa. Gene Ther. 2010;17:930-7 pubmed publisher
    ..These immunologic tests will be helpful for the selection of RDEB patients for future clinical trials aiming at restoring type VII collagen expression, and in monitoring their immune response to type VII collagen after treatment. ..
  6. Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, et al. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet. 2006;70:339-47 pubmed
    ..Since six of these mutations have been reported in DEB patients in the absence of intense pruritus, these data implicate a role of yet unidentified phenotype-modifying factors in the pathogenesis of DEB-Pr. ..
  7. Kim J, Kim S, Yasukawa K, Shimizu H. Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa. J Dermatol Sci. 2003;33:180-3 pubmed
  8. Ludwig R, Recke A, Bieber K, Müller S, Marques A, Banczyk D, et al. Generation of antibodies of distinct subclasses and specificity is linked to H2s in an active mouse model of epidermolysis bullosa acquisita. J Invest Dermatol. 2011;131:167-76 pubmed publisher
    ..Furthermore, our data are the basis for future studies with the goal of identifying non-MHC EBA susceptibility genes. ..
  9. Muller R, Dahler C, Möbs C, Wenzel E, Eming R, Messer G, et al. T and B cells target identical regions of the non-collagenous domain 1 of type VII collagen in epidermolysis bullosa acquisita. Clin Immunol. 2010;135:99-107 pubmed publisher

More Information

Publications78

  1. Has C. Molecular genetic assays for inherited epidermolysis bullosa. Clin Dermatol. 2011;29:420-6 pubmed publisher
    ..Mutation analysis indicates the precise cause of the disease, the affected gene, and the inheritance pattern. ..
  2. Cho J, Nakano H, Lee K. Type VII collagen gene mutations (c.8569G>T and c.4879G>A) result in the moderately severe phenotype of recessive dystrophic epidermolysis bullosa in a Korean patient. J Korean Med Sci. 2009;24:256-61 pubmed publisher
    ..8569G>T and c.4879G>A) in moderately severe RDEB in a Korean patient. We hope that this data contribute to the expanding database on COL7A1 mutations in DEB. ..
  3. Tolar J, Xia L, Riddle M, Lees C, Eide C, McElmurry R, et al. Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2011;131:848-56 pubmed publisher
    ..These data identify the potential of RDEB iPS cells to generate autologous hematopoietic grafts and skin cells with the inherent capacity to treat skin and mucosal erosions that typify this genodermatosis. ..
  4. Nakamura H, Sawamura D, Goto M, Sato Matsumura K, LaDuca J, Lee J, et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci. 2004;34:195-200 pubmed
  5. Jiang W, Sun T, Lei P, Zhu X. Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venereol. 2012;92:50-3 pubmed publisher
  6. Kasperkiewicz M, Hirose M, Recke A, Schmidt E, Zillikens D, Ludwig R. Clearance rates of circulating and tissue-bound autoantibodies to type VII collagen in experimental epidermolysis bullosa acquisita. Br J Dermatol. 2010;162:1064-70 pubmed publisher
  7. Ishii N, Hamada T, Dainichi T, Karashima T, Nakama T, Yasumoto S, et al. Epidermolysis bullosa acquisita: what's new?. J Dermatol. 2010;37:220-30 pubmed publisher
    ..v. immunoglobulin. In this review, we will focus on recent progress in our understanding of the clinical manifestations, the etiopathogenesis as well as the management of EBA. ..
  8. Galehdari H, Mohammadian G, Azmoon S, Salehi B, Pedram M. A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa. J Mol Diagn. 2010;12:377-9 pubmed publisher
    ..Numerous studies underline that both forms are caused by mutations of the COL7A1 gene, which encodes collagen type VII. It has been reported that most mutations detected in the recessive disease form are nonsense mutations or ..
  9. Sitaru A, Sesarman A, Mihai S, Chiriac M, Zillikens D, Hultman P, et al. T cells are required for the production of blister-inducing autoantibodies in experimental epidermolysis bullosa acquisita. J Immunol. 2010;184:1596-603 pubmed publisher
  10. Ng Y, Pourreyron C, Salas Alanis J, Dayal J, Cepeda Valdes R, Yan W, et al. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res. 2012;72:3522-34 pubmed publisher
  11. Leverkus M, Ambach A, Hoefeld Fegeler M, Kohlhase J, Schmidt E, Schumann H, et al. Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII. Br J Dermatol. 2011;164:1104-6 pubmed publisher
    ..epidermolysis bullosa (DEB) is a rare hereditary skin disorder caused by mutations in COL7A1, encoding collagen type VII.1 Clinical manifestations of COL7A1 mutations range from generalized skin blistering to mild localized ..
  12. Gupta R, Woodley D, Chen M. Epidermolysis bullosa acquisita. Clin Dermatol. 2012;30:60-9 pubmed publisher
    ..Although treatment for EBA is often unsatisfactory, some therapeutic success has been achieved with colchicine, dapsone, plasmapheresis, photopheresis, infliximab, and intravenous immunoglobulin. ..
  13. Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44:181-92 pubmed
    ..The mutation information also forms the basis for accurate genetic counselling and prenatal diagnosis in families at risk for recurrence. ..
  14. Dang N, Murrell D. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol. 2008;17:553-68 pubmed publisher
    ..The nature of mutations in COL7A1 and their positions correlate reasonably logically with the severity of the resulting phenotypes. ..
  15. Waterman E, Sakai N, Nguyen N, Horst B, Veitch D, Dey C, et al. A laminin-collagen complex drives human epidermal carcinogenesis through phosphoinositol-3-kinase activation. Cancer Res. 2007;67:4264-70 pubmed
    ..This uncoupling of stable adhesion from tumor progression in our studies suggests that laminin-332/collagen VII interaction promotes epidermal carcinogenesis through signaling rather than adhesion. ..
  16. Fritsch A, Loeckermann S, Kern J, Braun A, Bösl M, Bley T, et al. A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Invest. 2008;118:1669-79 pubmed publisher
    ..These data demonstrate that fibroblast-based treatment can be used to treat DEB in a mouse model and suggest that this approach may be effective in the development of clinical therapeutic regimens for patients with DEB. ..
  17. Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, et al. Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation. Am J Pathol. 2009;175:2508-17 pubmed publisher
    ..This model has great potential for future research into the pathomechanisms of dystrophic epidermolysis bullosa and the development of gene therapies for patients with dystrophic epidermolysis bullosa. ..
  18. Tolar J, Ishida Yamamoto A, Riddle M, McElmurry R, Osborn M, Xia L, et al. Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood. 2009;113:1167-74 pubmed publisher
  19. Woodley D, Hou Y, Martin S, Li W, Chen M. Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis. J Biol Chem. 2008;283:17838-45 pubmed publisher
    ..We conclude that known recessive DEB C7 mutations perturb critical functions of the C7 molecule and likely contribute to the clinical phenotypes of DEB patients. ..
  20. Rattenholl A, Pappano W, Koch M, Keene D, Kadler K, Sasaki T, et al. Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen. J Biol Chem. 2002;277:26372-8 pubmed
  21. Kasperkiewicz M, Nimmerjahn F, Wende S, Hirose M, Iwata H, Jonkman M, et al. Genetic identification and functional validation of Fc?RIV as key molecule in autoantibody-induced tissue injury. J Pathol. 2012;228:8-19 pubmed publisher
    ..Our findings both genetically and functionally identify a novel disease-related molecule, Fc?RIV, in an autoantibody-mediated disorder, which may be of importance for the development of novel targeted therapies. ..
  22. Titeux M, Mejía J, Mejlumian L, Bourthoumieu S, Mirval S, Tonasso L, et al. Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing. Hum Mutat. 2006;27:291-2 pubmed
    ..This is consistent with the diagnosis of the moderately severe form of RDEB in the proband, at variance with the most severe form, RDEB Hallopeau-Siemens, that would arise from complete collagen VII deficiency. ..
  23. Kraemer L, Wajid M, Christiano A. A glycine substitution in the COL7A1 gene causes mild RDEB in a Pakistani family. Eur J Dermatol. 2006;16:615-9 pubmed
  24. Ishiko A, Masunaga T, Ota T, Nishikawa T. Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?. Exp Dermatol. 2004;13:229-33 pubmed
    ..Therefore, genotype-phenotype relationships in RDEB cannot be explained purely by the position of PTC. ..
  25. Goto M, Sawamura D, Nishie W, Sakai K, McMillan J, Akiyama M, et al. Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. J Invest Dermatol. 2006;126:2614-20 pubmed
    ..We conclude that skipping of targeted exons using mutation-specific AON may show potential for future gene therapy for DEB patients. ..
  26. Huang L, Wong Y, Burd A. A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma. Int J Dermatol. 2011;50:52-6 pubmed publisher
    ..This report contributes to the expanding database of COL7A1 mutations and emphasizes the need to elucidate the underlying genetic mechanisms associated with the increased incidence of SCC in RDEB patients. ..
  27. Oostingh G, Sitaru C, Zillikens D, Kromminga A, Lührs H. Subclass distribution of type VII collagen-specific autoantibodies in patients with inflammatory bowel disease. J Dermatol Sci. 2005;37:182-4 pubmed
  28. Hamada T, Fukuda S, Ishii N, Sakaguchi S, Ishikawa T, Abe T, et al. Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings. J Dermatol Sci. 2008;50:147-50 pubmed publisher
  29. Ludwig R, Müller S, Marques A, Recke A, Schmidt E, Zillikens D, et al. Identification of quantitative trait loci in experimental epidermolysis bullosa acquisita. J Invest Dermatol. 2012;132:1409-15 pubmed publisher
    ..This more detailed insight into the pathogenesis of EBA may eventually lead to new treatment strategies for EBA and other autoantibody-mediated diseases...
  30. Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, et al. Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2002;119:1456-62 pubmed
    ..Altogether recurrent mutations account for approximately 43% of RDEB alleles in Italian patients and therefore new DEB patients should first be screened for the presence of these mutations. ..
  31. Tolar J, Blazar B, Wagner J. Concise review: Transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa. Stem Cells. 2011;29:900-6 pubmed publisher
    ..as in dystrophic epidermolysis bullosa, a severe congenital mechanobullous disorder caused by mutations in collagen type VII. Remarkably, stem cell transplantation can ameliorate deficiency of this skin-specific structural protein in ..
  32. Wang Y, Zhao J, Tu P, Jiang W, Zhu X. A novel missense mutation in COL7A1 in a Chinese pedigree with epidermolysis bullosa pruriginosa. J Dermatol Sci. 2007;46:211-3 pubmed
  33. Kern J, Grüninger G, Imsak R, Müller M, Schumann H, Kiritsi D, et al. Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. Br J Dermatol. 2009;161:1089-97 pubmed publisher
    ..Taken together, the results suggest that the MMP1 SNP is not the sole disease modifier in different forms of DEB, and other genetic and environmental factors contribute to the clinical phenotype. ..
  34. Fritsch A, Spassov S, Elfert S, Schlosser A, Gache Y, Meneguzzi G, et al. Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII. J Biol Chem. 2009;284:30248-56 pubmed publisher
    ..Therefore, increasing the expression of WT collagen VII in the skin of patients with DDEB can be considered a valid therapeutic approach. ..
  35. Saleh M, Ishii K, Kim Y, Murakami A, Ishii N, Hashimoto T, et al. Development of NC1 and NC2 domains of type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients. J Dermatol Sci. 2011;62:169-75 pubmed publisher
    ..We conclude that the NC1+NC2 ELISA can be a practical assay for the diagnosis and follow up of the antibody titers of EBA patients. ..
  36. Chung H, Uitto J. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin. 2010;28:93-105 pubmed publisher
  37. Broekaert S, Knauss Scherwitz E, Biedermann T, Metzler G, Has C, Kohlhase J, et al. Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. Acta Derm Venereol. 2006;86:556-7 pubmed
  38. Sitaru C, Kromminga A, Hashimoto T, Brocker E, Zillikens D. Autoantibodies to type VII collagen mediate Fcgamma-dependent neutrophil activation and induce dermal-epidermal separation in cryosections of human skin. Am J Pathol. 2002;161:301-11 pubmed
    ..We demonstrate the capacity of autoantibodies to type VII collagen to trigger an Fcgamma-dependent inflammation leading to split formation in cryosections of human skin. ..
  39. Ishii N, Recke A, Mihai S, Hirose M, Hashimoto T, Zillikens D, et al. Autoantibody-induced intestinal inflammation and weight loss in experimental epidermolysis bullosa acquisita. J Pathol. 2011;224:234-44 pubmed publisher
    ..In summary, our results provide strong evidence that COL7 is expressed in different portions of the gut and that anti-COL7 antibodies induce distinct gastrointestinal tissue damage. ..
  40. Mallipeddi R, Bleck O, Mellerio J, Ashton G, Eady R, McGrath J. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. Br J Dermatol. 2003;149:810-8 pubmed
  41. Jiang W, Sun Y, Li S, Chen X, Bu D, Zhu X. Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type. Br J Dermatol. 2005;152:1357-9 pubmed
  42. Chuang G, Martinez Mir A, Yu H, Sung F, Chuang R, Cserhalmi Friedman P, et al. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. Clin Exp Dermatol. 2004;29:304-7 pubmed
    ..Our finding further implicates COL7A1 mutation in the pathogenesis of EB pruriginosa and underscores the heterogeneous clinical symptoms of glycine mutations in DDEB. ..
  43. Chen M, Kim G, Prakash L, Woodley D. Epidermolysis bullosa acquisita: autoimmunity to anchoring fibril collagen. Autoimmunity. 2012;45:91-101 pubmed publisher
    ..Currently, treatment is often unsatisfactory; however, some success has been achieved with colchicine, dapsone, photopheresis, plasmapheresis, infliximab, rituximab, and IVIG. ..
  44. Ee H, Liu L, Goh C, McGrath J. Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. J Am Acad Dermatol. 2007;56:S77-81 pubmed
    ..Nevertheless, we plan to closely monitor these potentially presymptomatic individuals for symptoms of pruritus and early signs of the genetic disorder. ..
  45. Csorba K, Sesarman A, Oswald E, Feldrihan V, Fritsch A, Hashimoto T, et al. Cross-reactivity of autoantibodies from patients with epidermolysis bullosa acquisita with murine collagen VII. Cell Mol Life Sci. 2010;67:1343-51 pubmed publisher
    ..These findings should greatly facilitate the development of improved disease models and novel therapeutic strategies. ..
  46. Shi B, Feng J. A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa. Clin Exp Dermatol. 2009;34:e975-8 pubmed publisher
    ..This report adds new variants to the known COL7A1 mutations underlying EB pruriginosa, and provides the basis for genetic counselling and prenatal diagnosis for affected families. ..
  47. Sitaru C, Chiriac M, Mihai S, Büning J, Gebert A, Ishiko A, et al. Induction of complement-fixing autoantibodies against type VII collagen results in subepidermal blistering in mice. J Immunol. 2006;177:3461-8 pubmed
    ..This robust experimental system should greatly facilitate further studies on the pathogenesis of EBA and the development of novel immunomodulatory therapies for this and other autoimmune diseases. ..
  48. Martins V, Vyas J, Chen M, Purdie K, Mein C, South A, et al. Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci. 2009;122:1788-99 pubmed publisher
    ..Together, these findings may explain the aggressive behaviour of SCCs in RDEB patients and may also be relevant to non-RDEB skin cancer, as well as other tumours from organs where ColVII is expressed. ..
  49. Titeux M, Pendaries V, Tonasso L, Décha A, Bodemer C, Hovnanian A. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat. 2008;29:267-76 pubmed
    ..6). This is the first example of a modifier gene in RDEB and has implications for its prognosis and possible new treatments. ..
  50. Gardella R, Zoppi N, Zambruno G, Barlati S, Colombi M. Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene. Br J Dermatol. 2002;147:450-7 pubmed
    ..In the other patient, the 4965C-->T splicing mutation allows the synthesis of a certain quantity of normal chains and the consequent assembly of partially functional COLVII molecules and AF, thus explaining the mild phenotype. ..
  51. Covaciu C, Grosso F, Pisaneschi E, Zambruno G, Gregersen P, Sommerlund M, et al. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. Br J Dermatol. 2011;165:678-82 pubmed publisher
    ..These findings substantiate for the first time the involvement of an ESE mutation in the pathogenesis of DEB and have implications for genetic counselling of Danish families with DDEB. ..
  52. Komorowski L, Muller R, Vorobyev A, Probst C, Recke A, Jonkman M, et al. Sensitive and specific assays for routine serological diagnosis of epidermolysis bullosa acquisita. J Am Acad Dermatol. 2013;68:e89-95 pubmed publisher
    ..The two assays are highly specific and sensitive to diagnose EBA. Their diagnostic competence was demonstrated in a large cohort of well-characterized EBA sera. ..
  53. Almaani N, Liu L, Harrison N, Tanaka A, Lai Cheong J, Mellerio J, et al. New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Acta Derm Venereol. 2009;89:6-11 pubmed publisher
    ..0%), indicating that variants of a common functional polymorphism in the matrix metalloproteinase-1 gene promoter do not account for the itchy skin phenotype. The pathophysiology of EB pruriginosa remains unexplained. ..
  54. Masse M, Cserhalmi Friedman P, Falanga V, Celebi J, Martinez Mir A, Christiano A. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2005;30:289-93 pubmed
    ..To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family. ..
  55. Kern J, Loeckermann S, Fritsch A, Hausser I, Roth W, Magin T, et al. Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity. Mol Ther. 2009;17:1605-15 pubmed publisher
  56. Kim J, Kim Y, Kim S, Noh E, Kim S, Vorobyev A, et al. Serum levels of anti-type VII collagen antibodies detected by enzyme-linked immunosorbent assay in patients with epidermolysis bullosa acquisita are correlated with the severity of skin lesions. J Eur Acad Dermatol Venereol. 2013;27:e224-30 pubmed publisher
    ..Type VII collagen ELISA using the NC1 and NC2 domains is useful for diagnosing EBA and monitoring disease severity. ..
  57. Sitaru C, Mihai S, Otto C, Chiriac M, Hausser I, Dotterweich B, et al. Induction of dermal-epidermal separation in mice by passive transfer of antibodies specific to type VII collagen. J Clin Invest. 2005;115:870-8 pubmed
    ..This animal model for EBA should facilitate further dissection of the pathogenesis of this disease and development of new therapeutic strategies. ..
  58. Pasmooij A, Garcia M, Escamez M, Nijenhuis A, Azon A, Cuadrado Corrales N, et al. Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2010;130:2407-11 pubmed publisher
    ..Furthermore, the revertant keratinocytes might offer the possibility to explore cell-based therapeutic strategies, by culturing in vitro and subsequently grafting as part of bioengineered dermo-epidermal substitutes on affected skin. ..
  59. Conget P, Rodriguez F, Kramer S, Allers C, Simon V, Palisson F, et al. Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa. Cytotherapy. 2010;12:429-31 pubmed publisher
    ..Thus intradermal administration of allogeneic MSC associates with type VII collagen replenishment at the dermal-epidermal junction, prevents blistering and improves wound healing in unconditioned patients with RDEB. ..
  60. Marzano A, Cozzani E, Fanoni D, de Pita O, Vassallo C, Berti E, et al. Diagnosis and disease severity assessment of epidermolysis bullosa acquisita by ELISA for anti-type VII collagen autoantibodies: an Italian multicentre study. Br J Dermatol. 2013;168:80-4 pubmed publisher
    ..The correlation between autoantibody titres and disease severity suggests its usefulness as a marker of disease activity in EBA However, this should be confirmed by studies on larger series of patients. ..
  61. van den Akker P, Jonkman M, Rengaw T, Bruckner Tuderman L, Has C, Bauer J, et al. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat. 2011;32:1100-7 pubmed publisher
    ..Altogether, this registry will greatly benefit the DEB patients. ..
  62. Almaani N, Liu L, Dopping Hepenstal P, Lai Cheong J, Wong A, Nanda A, et al. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol. 2011;91:262-6 pubmed publisher
    ..In screening the COL7A1 gene for mutations in individuals with DEB our data highlight that delineation of glycine substitutions in type VII collagen has important implications for genetic counselling. ..
  63. Wagner J, Ishida Yamamoto A, McGrath J, Hordinsky M, Keene D, Woodley D, et al. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med. 2010;363:629-39 pubmed publisher
    ..Further studies are needed to assess the long-term risks and benefits of such therapy in patients with this disorder. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00478244.) ..
  64. Chino T, Tamai K, Yamazaki T, Otsuru S, Kikuchi Y, Nimura K, et al. Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance. Am J Pathol. 2008;173:803-14 pubmed publisher
    ..Thus, gene therapy using E-BMT into the fetal circulation may offer a potential treatment option to ameliorate genetic skin diseases that are characterized by fibroblast dysfunction through the introduction of immune-tolerated BMDFs. ..
  65. Wong T, Gammon L, Liu L, Mellerio J, Dopping Hepenstal P, Pacy J, et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2008;128:2179-89 pubmed publisher
    ..This is the first study demonstrating that intradermal injections of allogeneic fibroblasts have therapeutic potential in human subjects with RDEB. ..
  66. Dang N, Klingberg S, Marr P, Murrell D. Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants. J Dermatol Sci. 2007;46:169-78 pubmed
    ..DDEB usually involves glycine substitutions within the triple helix of COL7A1 although other missense variants or splice-site alterations may underlie some cases. ..
  67. Fassihi H, Lu L, Wessagowit V, Ozoemena L, Jones C, Dopping Hepenstal P, et al. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol. 2006;126:2039-43 pubmed
    ..The severity of the HS-RDEB in this case was similar to other affected individuals and no additional phenotypic abnormalities were observed, suggesting an absence of maternally imprinted genes on chromosome 3. ..
  68. Kern J, Kohlhase J, Bruckner Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2006;126:1006-12 pubmed
    ..In addition, the studies disclosed a de novo mutation in recessive DEB and two new polymorphisms in the COL7A1 gene. ..
  69. Chen M, O Toole E, Sanghavi J, Mahmud N, Kelleher D, Weir D, et al. The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen. J Invest Dermatol. 2002;118:1059-64 pubmed
    ..It was concluded that patients with inflammatory bowel disease may have IgG autoantibodies to type VII collagen, which exists in both the skin and the gut. ..