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MeSH Review

Ichthyosis, Lamellar

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Disease relevance of Ichthyosis, Lamellar


High impact information on Ichthyosis, Lamellar

  • We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1 [6].
  • Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer [7].
  • Harlequin ichthyosis (HI)--the most severe form of keratinizing disorders, often lethal in the neonatal period--is characterized by a profound thickening of the keratin skin layer, a dense "armor"-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth [8].
  • Topical N-acetylcysteine for lamellar ichthyosis [9].
  • Deficient cross-linking of the cell envelope in some patients with the autosomal recessive skin disorder lamellar ichthyosis (LI) and several mutations of the TGase 1 gene that have been identified in families with LI suggest the importance of this gene in production of the cell envelope [10].

Chemical compound and disease context of Ichthyosis, Lamellar


Biological context of Ichthyosis, Lamellar


Anatomical context of Ichthyosis, Lamellar


Gene context of Ichthyosis, Lamellar


Analytical, diagnostic and therapeutic context of Ichthyosis, Lamellar


  1. Treatment of lamellar ichthyosis and other keratinising dermatoses with an oral synthetic retinoid. Peck, G.L., Yoder, F.W. Lancet (1976) [Pubmed]
  2. Tenascin expression in human dermis is related to epidermal proliferation. Schalkwijk, J., Steijlen, P.M., van Vlijmen-Willems, I.M., Oosterling, B., Mackie, E.J., Verstraeten, A.A. Am. J. Pathol. (1991) [Pubmed]
  3. Direct cutaneous gene delivery in a human genetic skin disease. Choate, K.A., Khavari, P.A. Hum. Gene Ther. (1997) [Pubmed]
  4. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Pigg, M., Gedde-Dahl, T., Cox, D., Hausser, I., Anton-Lamprecht, I., Dahl, N. Eur. J. Hum. Genet. (1998) [Pubmed]
  5. Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Paige, D.G., Morse-Fisher, N., Harper, J.I. Br. J. Dermatol. (1994) [Pubmed]
  6. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Russell, L.J., DiGiovanna, J.J., Rogers, G.R., Steinert, P.M., Hashem, N., Compton, J.G., Bale, S.J. Nat. Genet. (1995) [Pubmed]
  7. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. Akiyama, M., Sugiyama-Nakagiri, Y., Sakai, K., McMillan, J.R., Goto, M., Arita, K., Tsuji-Abe, Y., Tabata, N., Matsuoka, K., Sasaki, R., Sawamura, D., Shimizu, H. J. Clin. Invest. (2005) [Pubmed]
  8. Harlequin ichthyosis unmasked: a defect of lipid transport. Hovnanian, A. J. Clin. Invest. (2005) [Pubmed]
  9. Topical N-acetylcysteine for lamellar ichthyosis. Redondo, P., Bauzá, A. Lancet (1999) [Pubmed]
  10. Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Matsuki, M., Yamashita, F., Ishida-Yamamoto, A., Yamada, K., Kinoshita, C., Fushiki, S., Ueda, E., Morishima, Y., Tabata, K., Yasuno, H., Hashida, M., Iizuka, H., Ikawa, M., Okabe, M., Kondoh, G., Kinoshita, T., Takeda, J., Yamanishi, K. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  11. Increased cholesterol sulfate in plasma and red blood cell membranes of steroid sulfatase deficient patients. Bergner, E.A., Shapiro, L.J. J. Clin. Endocrinol. Metab. (1981) [Pubmed]
  12. Acitretin in the treatment of lamellar ichthyosis. Steijlen, P.M., Van Dooren-Greebe, R.J., Van de Kerkhof, P.C. Br. J. Dermatol. (1994) [Pubmed]
  13. Topical application of tazarotene in the treatment of nonerythrodermic lamellar ichthyosis. Stege, H., Hofmann, B., Ruzicka, T., Lehmann, P. Archives of dermatology. (1998) [Pubmed]
  14. Cyclosporine in lamellar ichthyosis. Ho, V.C., Gupta, A.K., Ellis, C.N., Cooper, K.D., Nickoloff, B.J., Voorhees, J.J. Archives of dermatology. (1989) [Pubmed]
  15. Treatment of ichthyosis with isotretinoin. Baden, H.P., Buxman, M.M., Weinstein, G.D., Yoder, F.W. J. Am. Acad. Dermatol. (1982) [Pubmed]
  16. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Huber, M., Rettler, I., Bernasconi, K., Frenk, E., Lavrijsen, S.P., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D.F., Hohl, D. Science (1995) [Pubmed]
  17. Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Parmentier, L., Blanchet-Bardon, C., Nguyen, S., Prud'homme, J.F., Dubertret, L., Weissenbach, J. Hum. Mol. Genet. (1995) [Pubmed]
  18. Role of Sp1 response element in transcription of the human transglutaminase 1 gene. Jessen, B.A., Phillips, M.A., Hovnanian, A., Rice, R.H. J. Invest. Dermatol. (2000) [Pubmed]
  19. Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene. Bichakjian, C.K., Nair, R.P., Wu, W.W., Goldberg, S., Elder, J.T. J. Invest. Dermatol. (1998) [Pubmed]
  20. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Hennies, H.C., Küster, W., Wiebe, V., Krebsová, A., Reis, A. Am. J. Hum. Genet. (1998) [Pubmed]
  21. Collodion baby and lamellar ichthyosis. Sandler, B., Hashimoto, K. J. Cutan. Pathol. (1998) [Pubmed]
  22. Bleomycin-induced chromosome aberrations in lymphocytes derived from patients with lamellar ichthyosis. Vernole, P., Tullio, A., Caporossi, D., Didona, B., Melino, G., Tedeschi, B. Cancer Genet. Cytogenet. (1999) [Pubmed]
  23. Cathepsin D is involved in the regulation of transglutaminase 1 and epidermal differentiation. Egberts, F., Heinrich, M., Jensen, J.M., Winoto-Morbach, S., Pfeiffer, S., Wickel, M., Schunck, M., Steude, J., Saftig, P., Proksch, E., Schütze, S. J. Cell. Sci. (2004) [Pubmed]
  24. The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis. Zeeuwen, P.L., Dale, B.A., de Jongh, G.J., van Vlijmen-Willems, I.M., Fleckman, P., Kimball, J.R., Stephens, K., Schalkwijk, J. J. Invest. Dermatol. (2003) [Pubmed]
  25. Epidermal-specific defect of GPI anchor in Pig-a null mice results in Harlequin ichthyosis-like features. Hara-Chikuma, M., Takeda, J., Tarutani, M., Uchida, Y., Holleran, W.M., Endo, Y., Elias, P.M., Inoue, S. J. Invest. Dermatol. (2004) [Pubmed]
  26. 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]
  27. Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Annilo, T., Shulenin, S., Chen, Z.Q., Arnould, I., Prades, C., Lemoine, C., Maintoux-Larois, C., Devaud, C., Dean, M., Denèfle, P., Rosier, M. Cytogenet. Genome Res. (2002) [Pubmed]
  28. A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. Haftek, M., Cambazard, F., Dhouailly, D., Réano, A., Simon, M., Lachaux, A., Serre, G., Claudy, A., Schmitt, D. Br. J. Dermatol. (1996) [Pubmed]
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