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MeSH Review

Ectodermal Dysplasia

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Disease relevance of Ectodermal Dysplasia


High impact information on Ectodermal Dysplasia


Chemical compound and disease context of Ectodermal Dysplasia


Biological context of Ectodermal Dysplasia


Anatomical context of Ectodermal Dysplasia


Gene context of Ectodermal Dysplasia


Analytical, diagnostic and therapeutic context of Ectodermal Dysplasia


  1. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Smahi, A., Courtois, G., Rabia, S.H., Döffinger, R., Bodemer, C., Munnich, A., Casanova, J.L., Israël, A. Hum. Mol. Genet. (2002) [Pubmed]
  2. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. Sprecher, E., Itin, P., Whittock, N.V., McGrath, J.A., Meyer, R., DiGiovanna, J.J., Bale, S.J., Uitto, J., Richard, G. J. Invest. Dermatol. (2002) [Pubmed]
  3. Role of the autoimmune regulator (AIRE) gene in alopecia areata: strong association of a potentially functional AIRE polymorphism with alopecia universalis. Tazi-Ahnini, R., Cork, M.J., Gawkrodger, D.J., Birch, M.P., Wengraf, D., McDonagh, A.J., Messenger, A.G. Tissue Antigens (2002) [Pubmed]
  4. New clinical findings in oculo-ectodermal syndrome. Silengo, M., Lerone, M., Seri, M., Priolo, M., Jarre, L. Clin. Dysmorphol. (2000) [Pubmed]
  5. Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo. Na, G.Y., Kim, d.o. .W., Lee, S.J., Chung, S.L., Park, D.J., Kim, J.C., Kim, M.K. Pediatric dermatology. (2004) [Pubmed]
  6. Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. Orange, J.S., Brodeur, S.R., Jain, A., Bonilla, F.A., Schneider, L.C., Kretschmer, R., Nurko, S., Rasmussen, W.L., Köhler, J.R., Gellis, S.E., Ferguson, B.M., Strominger, J.L., Zonana, J., Ramesh, N., Ballas, Z.K., Geha, R.S. J. Clin. Invest. (2002) [Pubmed]
  7. TRAF6-deficient mice display hypohidrotic ectodermal dysplasia. Naito, A., Yoshida, H., Nishioka, E., Satoh, M., Azuma, S., Yamamoto, T., Nishikawa, S., Inoue, J. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  8. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Zonana, J., Elder, M.E., Schneider, L.C., Orlow, S.J., Moss, C., Golabi, M., Shapira, S.K., Farndon, P.A., Wara, D.W., Emmal, S.A., Ferguson, B.M. Am. J. Hum. Genet. (2000) [Pubmed]
  9. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Monreal, A.W., Zonana, J., Ferguson, B. Am. J. Hum. Genet. (1998) [Pubmed]
  10. A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. Ho, L., Williams, M.S., Spritz, R.A. Am. J. Hum. Genet. (1998) [Pubmed]
  11. Aplasia cutis congenita after exposure to methimazole: a causal relationship? Vogt, T., Stolz, W., Landthaler, M. Br. J. Dermatol. (1995) [Pubmed]
  12. Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero. Hubert, A., Bonneau, D., Couet, D., Berthier, M., Oriot, D., Larrègue, M. Acta Paediatr. (1994) [Pubmed]
  13. Use of a water-vapour permeable polyurethane film (omiderm) in the non-surgical treatment of aplasia cutis congenita. Canter, H.I., Vargel, I., Nasir, S., Kayikcioglu, A. Scandinavian journal of plastic and reconstructive surgery and hand surgery / Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi. (2004) [Pubmed]
  14. Altered skin development and impaired proliferative and inflammatory responses in transgenic mice overexpressing the glucocorticoid receptor. Pérez, P., Page, A., Bravo, A., Del Río, M., Giménez-Conti, I., Budunova, I., Slaga, T.J., Jorcano, J.L. FASEB J. (2001) [Pubmed]
  15. Induction of apoptosis by X-linked ectodermal dysplasia receptor via a caspase 8-dependent mechanism. Sinha, S.K., Chaudhary, P.M. J. Biol. Chem. (2004) [Pubmed]
  16. A novel mouse type I intermediate filament gene, keratin 17n (K17n), exhibits preferred expression in nail tissue. Tong, X., Coulombe, P.A. J. Invest. Dermatol. (2004) [Pubmed]
  17. A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. Kibar, Z., Lafrenière, R.G., Chakravarti, A., Wang, J.C., Chevrette, M., Der Kaloustian, V.M., Rouleau, G.A. Genomics (1999) [Pubmed]
  18. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Kibar, Z., Dubé, M.P., Powell, J., McCuaïg, C., Hayflick, S.J., Zonana, J., Hovnanian, A., Radhakrishna, U., Antonarakis, S.E., Benohanian, A., Sheeran, A.D., Stephan, M.L., Gosselin, R., Kelsell, D.P., Christianson, A.L., Fraser, F.C., Der Kaloustian, V.M., Rouleau, G.A. Eur. J. Hum. Genet. (2000) [Pubmed]
  19. Regulation of hair follicle development by the TNF signal ectodysplasin and its receptor Edar. Laurikkala, J., Pispa, J., Jung, H.S., Nieminen, P., Mikkola, M., Wang, X., Saarialho-Kere, U., Galceran, J., Grosschedl, R., Thesleff, I. Development (2002) [Pubmed]
  20. Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. Zonana, J., Roberts, S.H., Thomas, N.S., Harper, P.S. J. Med. Genet. (1988) [Pubmed]
  21. Aplasia cutis congenita: a rare cause of elevated alpha-fetoprotein levels. Gerber, M., de Veciana, M., Towers, C.V., Devore, G.R. Am. J. Obstet. Gynecol. (1995) [Pubmed]
  22. Review of antithyroid drug use during pregnancy and report of a case of aplasia cutis. Mandel, S.J., Brent, G.A., Larsen, P.R. Thyroid (1994) [Pubmed]
  23. Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice. Yan, M., Zhang, Z., Brady, J.R., Schilbach, S., Fairbrother, W.J., Dixit, V.M. Curr. Biol. (2002) [Pubmed]
  24. 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]
  25. Tooth patterning and enamel formation can be manipulated by misexpression of TNF receptor Edar. Pispa, J., Mustonen, T., Mikkola, M.L., Kangas, A.T., Koppinen, P., Lukinmaa, P.L., Jernvall, J., Thesleff, I. Dev. Dyn. (2004) [Pubmed]
  26. X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency. Filippi, G., Rinaldi, A., Crisponi, G., Daniels, G.L., Siniscalco, M. J. Med. Genet. (1979) [Pubmed]
  27. Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. Feng, Y.G., Xiao, S.X., Ren, X.R., Wang, W.Q., Liu, A., Pan, M. Br. J. Dermatol. (2003) [Pubmed]
  28. Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography. Clark, R.P., Goff, M.R., MacDermot, K.D. Hum. Genet. (1990) [Pubmed]
  29. New cases of dermoodontodysplasia? Pinheiro, M., Gomes-de-Sá-Filho, F.P., Freire-Maia, N. Am. J. Med. Genet. (1990) [Pubmed]
  30. Facial morphology as determined by anthropometry: keeping it simple. Ward, R.E. J. Craniofac. Genet. Dev. Biol. (1989) [Pubmed]
  31. Psychosocial stress and adaptive functioning in children and adolescents suffering from hypohidrotic ectodermal dysplasia. Hummel, P., Guddack, S. Pediatric dermatology. (1997) [Pubmed]
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