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MeSH Review

Hyperkeratosis, Epidermolytic

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Disease relevance of Hyperkeratosis, Epidermolytic


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Chemical compound and disease context of Hyperkeratosis, Epidermolytic


Biological context of Hyperkeratosis, Epidermolytic


Anatomical context of Hyperkeratosis, Epidermolytic


Gene context of Hyperkeratosis, Epidermolytic


Analytical, diagnostic and therapeutic context of Hyperkeratosis, Epidermolytic


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  11. A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis. Yang, J.M., Nam, K., Kim, H.C., Lee, J.H., Park, J.K., Wu, K., Lee, E.S., Steinert, P.M. J. Invest. Dermatol. (1999) [Pubmed]
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  13. Premature epiphyseal closure in a child receiving oral 13-cis-retinoic acid. Milstone, L.M., McGuire, J., Ablow, R.C. J. Am. Acad. Dermatol. (1982) [Pubmed]
  14. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. Arin, M.J., Longley, M.A., Küster, W., Huber, M., Hohl, D., Rothnagel, J.A., Roop, D.R. Exp. Dermatol. (1999) [Pubmed]
  15. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12. Bonifas, J.M., Bare, J.W., Chen, M.A., Lee, M.K., Slater, C.A., Goldsmith, L.A., Epstein, E.H. J. Invest. Dermatol. (1992) [Pubmed]
  16. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. Yang, J.M., Chipev, C.C., DiGiovanna, J.J., Bale, S.J., Marekov, L.N., Steinert, P.M., Compton, J.G. J. Invest. Dermatol. (1994) [Pubmed]
  17. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. Terron-Kwiatkowski, A., Terrinoni, A., Didona, B., Melino, G., Atherton, D.J., Irvine, A.D., McLean, W.H. Br. J. Dermatol. (2004) [Pubmed]
  18. A sporadic case of epidermolytic hyperkeratosis caused by a novel point mutation in the keratin 1 gene. Shimomura, Y., Sato, N., Tomiyama, K., Takahashi, A., Ito, M. Clin. Exp. Dermatol. (2006) [Pubmed]
  19. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. Joh, G.Y., Traupe, H., Metze, D., Nashan, D., Huber, M., Hohl, D., Longley, M.A., Rothnagel, J.A., Roop, D.R. J. Invest. Dermatol. (1997) [Pubmed]
  20. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Müller, F.B., Huber, M., Kinaciyan, T., Hausser, I., Schaffrath, C., Krieg, T., Hohl, D., Korge, B.P., Arin, M.J. Hum. Mol. Genet. (2006) [Pubmed]
  21. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. Virtanen, M., Smith, S.K., Gedde-Dahl, T., Vahlquist, A., Bowden, P.E. J. Invest. Dermatol. (2003) [Pubmed]
  22. Immunoelectron microscopy links molecules and morphology in the studies of keratinization. Ishida-Yamamoto, A., Takahashi, H., Iizuka, H. European journal of dermatology : EJD. (2000) [Pubmed]
  23. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. Bonifas, J.M., Matsumura, K., Chen, M.A., Berth-Jones, J., Hutchison, P.E., Zloczower, M., Fritsch, P.O., Epstein, E.H. J. Invest. Dermatol. (1994) [Pubmed]
  24. Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deimination. Ishida-Yamamoto, A., Senshu, T., Eady, R.A., Takahashi, H., Shimizu, H., Akiyama, M., Iizuka, H. J. Invest. Dermatol. (2002) [Pubmed]
  25. Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. Rothnagel, J.A., Lin, M.T., Longley, M.A., Holder, R.A., Hazen, P.G., Levy, M.L., Roop, D.R. Prenat. Diagn. (1998) [Pubmed]
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