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Epidermolysis Bullosa, Junctional

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  1. Gene correction of integrin beta4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for beta4 tyrosines 1422 and 1440 in hemidesmosome assembly. Dellambra, E., Prislei, S., Salvati, A.L., Madeddu, M.L., Golisano, O., Siviero, E., Bondanza, S., Cicuzza, S., Orecchia, A., Giancotti, F.G., Zambruno, G., De Luca, M. J. Biol. Chem. (2001) [Pubmed]
  2. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. Floeth, M., Fiedorowicz, J., Schäcke, H., Hammami-Hausli, N., Owaribe, K., Trüeb, R.M., Bruckner-Tuderman, L. J. Invest. Dermatol. (1998) [Pubmed]
  3. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. Castiglia, D., Posteraro, P., Spirito, F., Pinola, M., Angelo, C., Puddu, P., Meneguzzi, G., Zambruno, G. J. Invest. Dermatol. (2001) [Pubmed]
  4. Expression and glycosylation of MUC1 in epidermolysis bullosa-associated and sporadic cutaneous squamous cell carcinomas. Cooper, H.L., Cook, I.S., Theaker, J.M., Mallipeddi, R., McGrath, J., Friedmann, P., Healy, E. Br. J. Dermatol. (2004) [Pubmed]
  5. 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]
  6. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Aberdam, D., Galliano, M.F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A.M., Tryggvason, K., Uitto, J., Epstein, E.H., Ortonne, J.P. Nat. Genet. (1994) [Pubmed]
  7. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. Ruzzi, L., Gagnoux-Palacios, L., Pinola, M., Belli, S., Meneguzzi, G., D'Alessio, M., Zambruno, G. J. Clin. Invest. (1997) [Pubmed]
  8. Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression. Baudoin, C., Miquel, C., Blanchet-Bardon, C., Gambini, C., Meneguzzi, G., Ortonne, J.P. J. Clin. Invest. (1994) [Pubmed]
  9. Epiligrin, the major human keratinocyte integrin ligand, is a target in both an acquired autoimmune and an inherited subepidermal blistering skin disease. Domloge-Hultsch, N., Gammon, W.R., Briggaman, R.A., Gil, S.G., Carter, W.G., Yancey, K.B. J. Clin. Invest. (1992) [Pubmed]
  10. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. McGrath, J.A., Gatalica, B., Li, K., Dunnill, M.G., McMillan, J.R., Christiano, A.M., Eady, R.A., Uitto, J. Am. J. Pathol. (1996) [Pubmed]
  11. Phenytoin therapy for junctional epidermolysis bullosa. Rogers, R.B., Yancey, K.B., Allen, B.S., Guill, M.F. Archives of dermatology. (1983) [Pubmed]
  12. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. Takizawa, Y., Pulkkinen, L., Shimizu, H., Lin, L., Hagiwara, S., Nishikawa, T., Uitto, J. J. Invest. Dermatol. (1998) [Pubmed]
  13. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. Spirito, F., Charlesworth, A., Linder, K., Ortonne, J.P., Baird, J., Meneguzzi, G. J. Invest. Dermatol. (2002) [Pubmed]
  14. Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. Buchroithner, B., Klausegger, A., Ebschner, U., Anton-Lamprecht, I., Pohla-Gubo, G., Lanschuetzer, C.M., Laimer, M., Hintner, H., Bauer, J.W. Lab. Invest. (2004) [Pubmed]
  15. Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. Turco, A.E., Peissel, B., Rossetti, S., Selicorni, A., Manoukian, S., Brusasco, A., Tadini, G., Galimberti, A., Tassis, B., Turolla, L. Am. J. Med. Genet. (1993) [Pubmed]
  16. The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes. Sterk, L.M., Geuijen, C.A., Oomen, L.C., Calafat, J., Janssen, H., Sonnenberg, A. J. Cell Biol. (2000) [Pubmed]
  17. Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties. Niessen, C.M., van der Raaij-Helmer, M.H., Hulsman, E.H., van der Neut, R., Jonkman, M.F., Sonnenberg, A. J. Cell. Sci. (1996) [Pubmed]
  18. Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. Vailly, J., Pulkkinen, L., Miquel, C., Christiano, A.M., Gerecke, D., Burgeson, R.E., Uitto, J., Ortonne, J.P., Meneguzzi, G. J. Invest. Dermatol. (1995) [Pubmed]
  19. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. Robbins, P.B., Lin, Q., Goodnough, J.B., Tian, H., Chen, X., Khavari, P.A. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  20. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Kivirikko, S., McGrath, J.A., Baudoin, C., Aberdam, D., Ciatti, S., Dunnill, M.G., McMillan, J.R., Eady, R.A., Ortonne, J.P., Meneguzzi, G. Hum. Mol. Genet. (1995) [Pubmed]
  21. Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. Gedde-Dahl, T., Dupuy, B.M., Jonassen, R., Winberg, J.O., Anton-Lamprecht, I., Olaisen, B. Hum. Mol. Genet. (1994) [Pubmed]
  22. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. Pulkkinen, L., Kurtz, K., Xu, Y., Bruckner-Tuderman, L., Uitto, J. Lab. Invest. (1997) [Pubmed]
  23. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Vidal, F., Aberdam, D., Miquel, C., Christiano, A.M., Pulkkinen, L., Uitto, J., Ortonne, J.P., Meneguzzi, G. Nat. Genet. (1995) [Pubmed]
  24. Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. McGarth, J.A., Christiano, A.M., Pulkkinen, L., Eady, R.A., Uitto, J. J. Invest. Dermatol. (1996) [Pubmed]
  25. Hematopoietic stem cell transplantation and subsequent 80% skin exchange by grafts from the same donor in a patient with Herlitz disease. Kopp, J., Horch, R.E., Stachel, K.D., Holter, W., Kandler, M.A., Hertzberg, H., Rascher, W., Campean, V., Carbon, R., Schneider, H. Transplantation (2005) [Pubmed]
  26. Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency. Jonkman, M.F., de Jong, M.C., Heeres, K., Steijlen, P.M., Owaribe, K., Küster, W., Meurer, M., Gedde-Dahl, T., Sonnenberg, A., Bruckner-Tuderman, L. Archives of dermatology. (1996) [Pubmed]
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