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MeSH Review

Keratoderma, Palmoplantar

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Disease relevance of Keratoderma, Palmoplantar


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Biological context of Keratoderma, Palmoplantar


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Gene context of Keratoderma, Palmoplantar


Analytical, diagnostic and therapeutic context of Keratoderma, Palmoplantar


  1. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Torchard, D., Blanchet-Bardon, C., Serova, O., Langbein, L., Narod, S., Janin, N., Goguel, A.F., Bernheim, A., Franke, W.W., Lenoir, G.M. Nat. Genet. (1994) [Pubmed]
  2. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Toomes, C., James, J., Wood, A.J., Wu, C.L., McCormick, D., Lench, N., Hewitt, C., Moynihan, L., Roberts, E., Woods, C.G., Markham, A., Wong, M., Widmer, R., Ghaffar, K.A., Pemberton, M., Hussein, I.R., Temtamy, S.A., Davies, R., Read, A.P., Sloan, P., Dixon, M.J., Thakker, N.S. Nat. Genet. (1999) [Pubmed]
  3. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Sprecher, E., Ishida-Yamamoto, A., Mizrahi-Koren, M., Rapaport, D., Goldsher, D., Indelman, M., Topaz, O., Chefetz, I., Keren, H., O'brien, T.J., Bercovich, D., Shalev, S., Geiger, D., Bergman, R., Horowitz, M., Mandel, H. Am. J. Hum. Genet. (2005) [Pubmed]
  4. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Rickman, L., Simrak, D., Stevens, H.P., Hunt, D.M., King, I.A., Bryant, S.P., Eady, R.A., Leigh, I.M., Arnemann, J., Magee, A.I., Kelsell, D.P., Buxton, R.S. Hum. Mol. Genet. (1999) [Pubmed]
  5. Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Risk, J.M., Evans, K.E., Jones, J., Langan, J.E., Rowbottom, L., McRonald, F.E., Mills, H.S., Ellis, A., Shaw, J.M., Leigh, I.M., Kelsell, D.P., Field, J.K. Oncogene (2002) [Pubmed]
  6. 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]
  7. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). McKoy, G., Protonotarios, N., Crosby, A., Tsatsopoulou, A., Anastasakis, A., Coonar, A., Norman, M., Baboonian, C., Jeffery, S., McKenna, W.J. Lancet (2000) [Pubmed]
  8. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Jonkman, M.F., Pasmooij, A.M., Pasmans, S.G., van den Berg, M.P., Ter Horst, H.J., Timmer, A., Pas, H.H. Am. J. Hum. Genet. (2005) [Pubmed]
  9. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Ishida-Yamamoto, A., McGrath, J.A., Lam, H., Iizuka, H., Friedman, R.A., Christiano, A.M. Am. J. Hum. Genet. (1997) [Pubmed]
  10. Free fatty acids and fatty acids of triacylglycerols in normal and hyperkeratotic human stratum corneum. Nicollier, M., Massengo, T., Rémy-Martin, J.P., Laurent, R., Adessi, G.L. J. Invest. Dermatol. (1986) [Pubmed]
  11. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. Endo, H., Hatamochi, A., Shinkai, H. J. Invest. Dermatol. (1997) [Pubmed]
  12. Hereditary epidermolytic palmoplantar keratoderma (Vörner type). Report of a familial case and review of the literature. Kanitakis, J., Tsoitis, G., Kanitakis, C. J. Am. Acad. Dermatol. (1987) [Pubmed]
  13. Topical calcipotriol in the treatment of epidermolytic palmoplantar keratoderma of Vörner. Lucker, G.P., van de Kerkhof, P.C., Steijlen, P.M. Br. J. Dermatol. (1994) [Pubmed]
  14. Venlafaxine-associated psoriasiform palmoplantar keratoderma and subungual hyperkeratosis. Dalle, S., Becuwe, C., Balme, B., Thomas, L. Br. J. Dermatol. (2006) [Pubmed]
  15. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. Whittock, N.V., Smith, F.J., Wan, H., Mallipeddi, R., Griffiths, W.A., Dopping-Hepenstal, P., Ashton, G.H., Eady, R.A., McLean, W.H., McGrath, J.A. J. Invest. Dermatol. (2002) [Pubmed]
  16. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21. Reis, A., Küster, W., Eckardt, R., Sperling, K. Hum. Genet. (1992) [Pubmed]
  17. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Richard, G., White, T.W., Smith, L.E., Bailey, R.A., Compton, J.G., Paul, D.L., Bale, S.J. Hum. Genet. (1998) [Pubmed]
  18. Genetic linkage of Meleda disease to chromosome 8qter. Fischer, J., Bouadjar, B., Heilig, R., Fizames, C., Prud'homme, J.F., Weissenbach, J. Eur. J. Hum. Genet. (1998) [Pubmed]
  19. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. Covello, S.P., Irvine, A.D., McKenna, K.E., Munro, C.S., Nevin, N.C., Smith, F.J., Uitto, J., McLean, W.H. J. Invest. Dermatol. (1998) [Pubmed]
  20. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Wan, H., Dopping-Hepenstal, P.J., Gratian, M.J., Stone, M.G., Zhu, G., Purkis, P.E., South, A.P., Keane, F., Armstrong, D.K., Buxton, R.S., McGrath, J.A., Eady, R.A. Br. J. Dermatol. (2004) [Pubmed]
  21. Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. Anton-Lamprecht, I. J. Invest. Dermatol. (1994) [Pubmed]
  22. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. Jan, A.Y., Amin, S., Ratajczak, P., Richard, G., Sybert, V.P. J. Invest. Dermatol. (2004) [Pubmed]
  23. Clustered cadherin genes: a sequence-ready contig for the desmosomal cadherin locus on human chromosome 18. Hunt, D.M., Sahota, V.K., Taylor, K., Simrak, D., Hornigold, N., Arnemann, J., Wolfe, J., Buxton, R.S. Genomics (1999) [Pubmed]
  24. Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefèvre syndrome. Hart, P.S., Pallos, D., Zhang, Y., Sanchez, J., Kavamura, I., Brunoni, D., Hart, T.C. Mol. Genet. Metab. (2002) [Pubmed]
  25. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Shamsher, M.K., Navsaria, H.A., Stevens, H.P., Ratnavel, R.C., Purkis, P.E., Kelsell, D.P., McLean, W.H., Cook, L.J., Griffiths, W.A., Gschmeissner, S. Hum. Mol. Genet. (1995) [Pubmed]
  26. Improvement of palmoplantar keratoderma of nonhereditary type (eczema tyloticum) after oral administration of 1 alpha,25-dihydroxyvitamin D3. Katayama, H., Yamane, Y. Archives of dermatology. (1989) [Pubmed]
  27. Treatment of palmoplantar keratoderma with continuous infusion 5-fluorouracil. Lienemann, A.O., Colucci, V.J., Jones, M.S., Trauscht, J.M. Cutis; cutaneous medicine for the practitioner. (2004) [Pubmed]
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