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MeSH Review

Epidermolysis Bullosa

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Disease relevance of Epidermolysis Bullosa


High impact information on Epidermolysis Bullosa


Chemical compound and disease context of Epidermolysis Bullosa


Biological context of Epidermolysis Bullosa


Anatomical context of Epidermolysis Bullosa


Gene context of Epidermolysis Bullosa


Analytical, diagnostic and therapeutic context of Epidermolysis Bullosa


  1. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Smith, F.J., Eady, R.A., Leigh, I.M., McMillan, J.R., Rugg, E.L., Kelsell, D.P., Bryant, S.P., Spurr, N.K., Geddes, J.F., Kirtschig, G., Milana, G., de Bono, A.G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W.H., Lane, E.B. Nat. Genet. (1996) [Pubmed]
  2. 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]
  3. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Reis, A., Hennies, H.C., Langbein, L., Digweed, M., Mischke, D., Drechsler, M., Schröck, E., Royer-Pokora, B., Franke, W.W., Sperling, K. Nat. Genet. (1994) [Pubmed]
  4. Granulocyte-derived elastase and gelatinase B are required for dermal-epidermal separation induced by autoantibodies from patients with epidermolysis bullosa acquisita and bullous pemphigoid. Shimanovich, I., Mihai, S., Oostingh, G.J., Ilenchuk, T.T., Bröcker, E.B., Opdenakker, G., Zillikens, D., Sitaru, C. J. Pathol. (2004) [Pubmed]
  5. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. Banwell, B.L., Russel, J., Fukudome, T., Shen, X.M., Stilling, G., Engel, A.G. J. Neuropathol. Exp. Neurol. (1999) [Pubmed]
  6. Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice. Georges-Labouesse, E., Messaddeq, N., Yehia, G., Cadalbert, L., Dierich, A., Le Meur, M. Nat. Genet. (1996) [Pubmed]
  7. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Pulkkinen, L., Christiano, A.M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. Nat. Genet. (1994) [Pubmed]
  8. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Hovnanian, A., Pollack, E., Hilal, L., Rochat, A., Prost, C., Barrandon, Y., Goossens, M. Nat. Genet. (1993) [Pubmed]
  9. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Coulombe, P.A., Hutton, M.E., Letai, A., Hebert, A., Paller, A.S., Fuchs, E. Cell (1991) [Pubmed]
  10. Response to pipamperone in case of epidermolysis bullosa herpetiformis. Bonnetblanc, J.M., Bouquier, J.J. Lancet (1986) [Pubmed]
  11. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. Rothnagel, J.A., Fisher, M.P., Axtell, S.M., Pittelkow, M.R., Anton-Lamprecht, I., Huber, M., Hohl, D., Roop, D.R. Hum. Mol. Genet. (1993) [Pubmed]
  12. Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4). Pulkkinen, L., Kim, D.U., Uitto, J. Am. J. Pathol. (1998) [Pubmed]
  13. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. Hess, J.F., Casselman, J.T., FitzGerald, P.G. J. Biol. Chem. (1996) [Pubmed]
  14. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. Dong, W., Ryynänen, M., Uitto, J. Hum. Mutat. (1993) [Pubmed]
  15. Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. Huber, M., Floeth, M., Borradori, L., Schäcke, H., Rugg, E.L., Lane, E.B., Frenk, E., Hohl, D., Bruckner-Tuderman, L. J. Invest. Dermatol. (2002) [Pubmed]
  16. A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex. Indelman, M., Bergman, R., Sprecher, E. J. Invest. Dermatol. (2005) [Pubmed]
  17. Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. Naeyaert, J.M., Nuytinck, L., De Bie, S., Beele, H., Kint, A., De Paepe, A. J. Invest. Dermatol. (1995) [Pubmed]
  18. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. Schuilenga-Hut, P.H., Scheffer, H., Pas, H.H., Nijenhuis, M., Buys, C.H., Jonkman, M.F. J. Invest. Dermatol. (2002) [Pubmed]
  19. Identification of the skin basement-membrane autoantigen in epidermolysis bullosa acquisita. Woodley, D.T., Briggaman, R.A., O'Keefe, E.J., Inman, A.O., Queen, L.L., Gammon, W.R. N. Engl. J. Med. (1984) [Pubmed]
  20. A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Chan, Y., Anton-Lamprecht, I., Yu, Q.C., Jäckel, A., Zabel, B., Ernst, J.P., Fuchs, E. Genes Dev. (1994) [Pubmed]
  21. Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock. D'Alessandro, M., Russell, D., Morley, S.M., Davies, A.M., Lane, E.B. J. Cell. Sci. (2002) [Pubmed]
  22. Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients. Morley, S.M., Dundas, S.R., James, J.L., Gupta, T., Brown, R.A., Sexton, C.J., Navsaria, H.A., Leigh, I.M., Lane, E.B. J. Cell. Sci. (1995) [Pubmed]
  23. Mechanical stress induces profound remodelling of keratin filaments and cell junctions in epidermolysis bullosa simplex keratinocytes. Russell, D., Andrews, P.D., James, J., Lane, E.B. J. Cell. Sci. (2004) [Pubmed]
  24. The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14. Lloyd, C., Yu, Q.C., Cheng, J., Turksen, K., Degenstein, L., Hutton, E., Fuchs, E. J. Cell Biol. (1995) [Pubmed]
  25. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Pulkkinen, L., Rouan, F., Bruckner-Tuderman, L., Wallerstein, R., Garzon, M., Brown, T., Smith, L., Carter, W., Uitto, J. Am. J. Hum. Genet. (1998) [Pubmed]
  26. Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). Pulkkinen, L., McGrath, J.A., Christiano, A.M., Uitto, J. Hum. Mutat. (1995) [Pubmed]
  27. Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. Hut, P.H., v d Vlies, P., Jonkman, M.F., Verlind, E., Shimizu, H., Buys, C.H., Scheffer, H. J. Invest. Dermatol. (2000) [Pubmed]
  28. The 97 kDa linear IgA bullous dermatosis antigen is not expressed in a patient with generalized atrophic benign epidermolysis bullosa with a novel homozygous G258X mutation in COL17A1. Shimizu, H., Takizawa, Y., Pulkkinen, L., Zone, J.J., Matsumoto, K., Saida, T., Uitto, J., Nishikawa, T. J. Invest. Dermatol. (1998) [Pubmed]
  29. Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. Christiano, A.M., Greenspan, D.S., Lee, S., Uitto, J. J. Biol. Chem. (1994) [Pubmed]
  30. Three-dimensional distribution of basement membrane components in dystrophic recessive epidermolysis bullosa. Muda, A.O., Paradisi, M., Angelo, C., Puddu, P., Faraggiana, T. J. Pathol. (1996) [Pubmed]
  31. Direct immunofluorescence studies of sodium chloride-separated skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. Gammon, W.R., Kowalewski, C., Chorzelski, T.P., Kumar, V., Briggaman, R.A., Beutner, E.H. J. Am. Acad. Dermatol. (1990) [Pubmed]
  32. Recessive dystrophic epidermolysis bullosa skin displays a chronic growth-activated immunophenotype. Implications for carcinogenesis. Smoller, B.A., McNutt, N.S., Carter, D.M., Gottlieb, A.B., Hsu, A., Krueger, J. Archives of dermatology. (1990) [Pubmed]
  33. Transgenic models of skin diseases. Rothnagel, J.A., Greenhalgh, D.A., Wang, X.J., Sellheyer, K., Bickenbach, J.R., Dominey, A.M., Roop, D.R. Archives of dermatology. (1993) [Pubmed]
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