The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Epidermolysis Bullosa Dystrophica

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Epidermolysis Bullosa Dystrophica


High impact information on Epidermolysis Bullosa Dystrophica


Chemical compound and disease context of Epidermolysis Bullosa Dystrophica


Biological context of Epidermolysis Bullosa Dystrophica


Anatomical context of Epidermolysis Bullosa Dystrophica


Gene context of Epidermolysis Bullosa Dystrophica


Analytical, diagnostic and therapeutic context of Epidermolysis Bullosa Dystrophica


  1. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts. Gardella, R., Zoppi, N., Ferraboli, S., Marini, D., Tadini, G., Barlati, S., Colombi, M. Hum. Mutat. (1999) [Pubmed]
  2. Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa. Mallipeddi, R., Wessagowit, V., South, A.P., Robson, A.M., Orchard, G.E., Eady, R.A., McGrath, J.A. J. Invest. Dermatol. (2004) [Pubmed]
  3. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. McGrath, J.A., Ashton, G.H., Mellerio, J.E., Salas-Alanis, J.C., Swensson, O., McMillan, J.R., Eady, R.A. J. Invest. Dermatol. (1999) [Pubmed]
  4. Protease inhibitor therapy for recessive dystrophic epidermolysis bullosa. In vitro effect and clinical trial with camostat mesylate. Ikeda, S., Manabe, M., Muramatsu, T., Takamori, K., Ogawa, H. J. Am. Acad. Dermatol. (1988) [Pubmed]
  5. Management of generalized pruritus in dominant dystrophic epidermolysis bullosa using low-dose oral cyclosporin. Calikoglu, E., Anadolu, R. Acta Derm. Venereol. (2002) [Pubmed]
  6. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Chen, M., Kasahara, N., Keene, D.R., Chan, L., Hoeffler, W.K., Finlay, D., Barcova, M., Cannon, P.M., Mazurek, C., Woodley, D.T. Nat. Genet. (2002) [Pubmed]
  7. Lack of efficacy of phenytoin in recessive dystrophic epidermolysis bullosa. Epidermolysis Bullosa Study Group. Caldwell-Brown, D., Stern, R.S., Lin, A.N., Carter, D.M. N. Engl. J. Med. (1992) [Pubmed]
  8. Cyclosporin for dystrophic epidermolysis bullosa. Husz, S., Oláh, J., Korom, I., Szekeres, L., Kemény, E., Dobozy, A. Lancet (1989) [Pubmed]
  9. Minocycline for dystrophic epidermolysis bullosa. White, J.E. Lancet (1989) [Pubmed]
  10. Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain. Bruckner-Tuderman, L., Nilssen, O., Zimmermann, D.R., Dours-Zimmermann, M.T., Kalinke, D.U., Gedde-Dahl, T., Winberg, J.O. J. Cell Biol. (1995) [Pubmed]
  11. The carboxyl terminus of type VII collagen mediates antiparallel dimer formation and constitutes a new antigenic epitope for epidermolysis Bullosa acquisita autoantibodies. Chen, M., Keene, D.R., Costa, F.K., Tahk, S.H., Woodley, D.T. J. Biol. Chem. (2001) [Pubmed]
  12. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. Lee, J.Y., Pulkkinen, L., Liu, H.S., Chen, Y.F., Uitto, J. J. Invest. Dermatol. (1997) [Pubmed]
  13. Nidogen and heparan sulfate proteoglycan: detection of newly isolated basement membrane components in normal and epidermolysis bullosa skin. Caughman, S.W., Krieg, T., Timpl, R., Hintner, H., Katz, S.I. J. Invest. Dermatol. (1987) [Pubmed]
  14. Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. Ryynänen, M., Ryynänen, J., Sollberg, S., Iozzo, R.V., Knowlton, R.G., Uitto, J. J. Clin. Invest. (1992) [Pubmed]
  15. Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. Sakuntabhai, A., Hammami-Hauasli, N., Bodemer, C., Rochat, A., Prost, C., Barrandon, Y., de Prost, Y., Lathrop, M., Wojnarowska, F., Bruckner-Tuderman, L., Hovnanian, A. Am. J. Hum. Genet. (1998) [Pubmed]
  16. Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Ryynänen, M., Knowlton, R.G., Parente, M.G., Chung, L.C., Chu, M.L., Uitto, J. Am. J. Hum. Genet. (1991) [Pubmed]
  17. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene. Winberg, J.O., Hammami-Hauasli, N., Nilssen, O., Anton-Lamprecht, I., Naylor, S.L., Kerbacher, K., Zimmermann, M., Krajci, P., Gedde-Dahl, T., Bruckner-Tuderman, L. Hum. Mol. Genet. (1997) [Pubmed]
  18. Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. Heinonen, S., Männikkö, M., Klement, J.F., Whitaker-Menezes, D., Murphy, G.F., Uitto, J. J. Cell. Sci. (1999) [Pubmed]
  19. Constitutive activation of the collagenase promoter in recessive dystrophic epidermolysis bullosa fibroblasts: role of endogenously activated AP-1. Unemori, E.N., Mauch, C., Hoeffler, W., Kim, Y., Amento, E.P., Bauer, E.A. Exp. Cell Res. (1994) [Pubmed]
  20. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. Terracina, M., Posteraro, P., Schubert, M., Sonego, G., Atzori, F., Zambruno, G., Bruckner-Tuderman, L., Castiglia, D. J. Invest. Dermatol. (1998) [Pubmed]
  21. "Activated" keratinocyte phenotype is unifying feature in conditions which predispose to squamous cell carcinoma of the skin. Smoller, B.R., Krueger, J., McNutt, N.S., Hsu, A. Mod. Pathol. (1990) [Pubmed]
  22. Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. Sato-Matsumura, K.C., Yasukawa, K., Tomita, Y., Shimizu, H. Archives of dermatology. (2002) [Pubmed]
  23. Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein. Bass, H.N., Miranda, C., Oei, R., Crandall, B.F. Prenat. Diagn. (1993) [Pubmed]
  24. Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation. Bodemer, C., Tchen, S.I., Ghomrasseni, S., Séguier, S., Gaultier, F., Fraitag, S., de Prost, Y., Godeau, G. J. Invest. Dermatol. (2003) [Pubmed]
  25. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Hovnanian, A., Rochat, A., Bodemer, C., Petit, E., Rivers, C.A., Prost, C., Fraitag, S., Christiano, A.M., Uitto, J., Lathrop, M., Barrandon, Y., de Prost, Y. Am. J. Hum. Genet. (1997) [Pubmed]
  26. Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation. Stefanova, M., Zemke, K., Dimitrov, B., Has, C., Kern, J.S., Bruckner-Tuderman, L., Kutsche, K. J. Invest. Dermatol. (2005) [Pubmed]
  27. Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa. Dunnill, M.G., Rodeck, C.H., Richards, A.J., Atherton, D., Lake, B.D., Petrou, M., Eady, R.A., Pope, F.M. J. Med. Genet. (1995) [Pubmed]
  28. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa. Christiano, A.M., Morricone, A., Paradisi, M., Angelo, C., Mazzanti, C., Cavalieri, R., Uitto, J. J. Invest. Dermatol. (1995) [Pubmed]
  29. Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa: application and limitations in the use of KF-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping technique. Fine, J.D., Eady, R.A., Levy, M.L., Hejtmancik, J.F., Courtney, K.B., Carpenter, R.J., Holbrook, K.A., Hawkins, H.K. J. Invest. Dermatol. (1988) [Pubmed]
WikiGenes - Universities