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Ichthyosis, X-Linked

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Analytical, diagnostic and therapeutic context of Ichthyosis, X-Linked


  1. A multipoint linkage map of the distal short arm of the human X chromosome. Johnson, C.L., Charmley, P., Yen, P.H., Shapiro, L.J. Am. J. Hum. Genet. (1991) [Pubmed]
  2. An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Schnur, R.E., Trask, B.J., van den Engh, G., Punnett, H.H., Kistenmacher, M., Tomeo, M.A., Naids, R.E., Nussbaum, R.L. Am. J. Hum. Genet. (1989) [Pubmed]
  3. More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia. Andria, G., Ballabio, A., Parenti, G. Ann. Neurol. (1988) [Pubmed]
  4. Lipids in the pathogenesis of ichthyosis: topical cholesterol sulfate-induced scaling in hairless mice. Maloney, M.E., Williams, M.L., Epstein, E.H., Law, M.Y., Fritsch, P.O., Elias, P.M. J. Invest. Dermatol. (1984) [Pubmed]
  5. Tob is a potential marker gene for the basal layer of the epidermis and is stably expressed in human primary keratinocytes. Park, G.T., Seo, E.Y., Lee, K.M., Lee, D.Y., Yang, J.M. Br. J. Dermatol. (2006) [Pubmed]
  6. A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval. Klink, A., Meindl, A., Hellebrand, H., Rappold, G.A. Hum. Genet. (1994) [Pubmed]
  7. Steroid sulfatase: molecular biology, regulation, and inhibition. Reed, M.J., Purohit, A., Woo, L.W., Newman, S.P., Potter, B.V. Endocr. Rev. (2005) [Pubmed]
  8. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis. Elias, P.M., Williams, M.L., Maloney, M.E., Bonifas, J.A., Brown, B.E., Grayson, S., Epstein, E.H. J. Clin. Invest. (1984) [Pubmed]
  9. X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Epstein, E.H., Krauss, R.M., Shackleton, C.H. Science (1981) [Pubmed]
  10. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. Williams, M.L., Elias, P.M. J. Clin. Invest. (1981) [Pubmed]
  11. Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Gillard, E.F., Affara, N.A., Yates, J.R., Goudie, D.R., Lambert, J., Aitken, D.A., Ferguson-Smith, M.A. Nucleic Acids Res. (1987) [Pubmed]
  12. Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality. Zettersten, E., Man, M.Q., Sato, J., Denda, M., Farrell, A., Ghadially, R., Williams, M.L., Feingold, K.R., Elias, P.M. J. Invest. Dermatol. (1998) [Pubmed]
  13. Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis. Keren, D.F., Canick, J.A., Johnson, M.Z., Schaldenbrand, J.D., Haning, R.V., Hackett, R. Am. J. Clin. Pathol. (1995) [Pubmed]
  14. Non-inactivation of an x-chromosome locus in man. Shapiro, L.J., Mohandas, T., Weiss, R., Romeo, G. Science (1979) [Pubmed]
  15. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Basler, E., Grompe, M., Parenti, G., Yates, J., Ballabio, A. Am. J. Hum. Genet. (1992) [Pubmed]
  16. Xp22.3 deletions in isolated familial Kallmann's syndrome. Hardelin, J.P., Levilliers, J., Young, J., Pholsena, M., Legouis, R., Kirk, J., Bouloux, P., Petit, C., Schaison, G. J. Clin. Endocrinol. Metab. (1993) [Pubmed]
  17. Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis. Valdes-Flores, M., Kofman-Alfaro, S.H., Vaca, A.L., Cuevas-Covarrubias, S.A. J. Invest. Dermatol. (2000) [Pubmed]
  18. Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier. Cuevas-Covarrubias, S.A., Jiménez-Vaca, A.L., González-Huerta, L.M., Valdes-Flores, M., Del Refugio Rivera-Vega, M., Maya-Nunez, G., Kofman-Alfaro, S.H. J. Invest. Dermatol. (2002) [Pubmed]
  19. Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. Epstein, E.H., Leventhal, M.E. J. Clin. Invest. (1981) [Pubmed]
  20. Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. Jensen, T.G., Jensen, U.B., Jensen, P.K., Ibsen, H.H., Brandrup, F., Ballabio, A., Bolund, L. Exp. Cell Res. (1993) [Pubmed]
  21. Gas-chromatographic determination of cholesterol sulfate in plasma and erythrocytes, for the diagnosis of recessive X-linked ichthyosis. Muskiet, F.A., Jansen, G., Wolthers, B.G., Marinkovic-Ilsen, A., van Voorst Vader, P.C. Clin. Chem. (1983) [Pubmed]
  22. Regional assignment of the gene locus for steroid sulfatase. Müller, C.R., Westerveld, A., Migl, B., Franke, W., Ropers, H.H. Hum. Genet. (1980) [Pubmed]
  23. Detection of heterozygotes of X-linked ichthyosis by measuring steroid sulphatase activity of lymphocytes. Mode of inheritance in three families. Okano, M., Kitano, Y., Nakamura, T., Matsuzawa, Y. Br. J. Dermatol. (1985) [Pubmed]
  24. A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins. Lahn, B.T., Page, D.C. Hum. Mol. Genet. (2000) [Pubmed]
  25. Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. Weissörtel, R., Strom, T.M., Dörr, H.G., Rauch, A., Meitinger, T. Clin. Genet. (1998) [Pubmed]
  26. Placental steroid deficiency: association with arylsulfatase A deficiency. Vidgoff, J., Buxman, M.M., Shapiro, L.J., Dimond, R.L., Wilson, T.G., Hepburn, C.A., Tabei, T., Heinrichs, W.R. Am. J. Hum. Genet. (1982) [Pubmed]
  27. Simplified method of determination of serum cholesterol sulfate by reverse phase thin-layer chromatography. Serizawa, S., Nagai, T., Sato, Y. J. Invest. Dermatol. (1987) [Pubmed]
  28. Diagnosis of recessive X-linked ichthyosis: quantitative HPLC/mass spectrometric analysis of plasma for cholesterol sulfate. Shackleton, C.H., Reid, S. Clin. Chem. (1989) [Pubmed]
  29. Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. Oyama, N., Satoh, M., Iwatsuki, K., Kaneko, F. J. Invest. Dermatol. (2000) [Pubmed]
  30. X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis). Cooke, A., Gillard, E.F., Yates, J.R., Mitchell, M.J., Aitken, D.A., Weir, D.M., Affara, N.A., Ferguson-Smith, M.A. Hum. Genet. (1988) [Pubmed]
  31. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene. Sugawara, T., Shimizu, H., Hoshi, N., Fujimoto, Y., Nakajima, A., Fujimoto, S. Hum. Mutat. (2000) [Pubmed]
  32. Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms. Marinkovic-Ilsen, A., Wolthers, B.G., Jansen, G., de Bruijn, H.W., van der Loos, C. Pediatric dermatology. (1985) [Pubmed]
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