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Page 1
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Lugassy J, et al. Among authors: sprecher e. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25. Am J Hum Genet. 2006. PMID: 16960809 Free PMC article.
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. Lugassy J, et al. Among authors: sprecher e. J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29. J Invest Dermatol. 2008. PMID: 18049449 Free article.
IGFBP7 as a potential therapeutic target in Psoriasis.
Nousbeck J, Ishida-Yamamoto A, Bidder M, Fuchs D, Eckl K, Hennies HC, Sagiv N, Gat A, Gini M, Filip I, Matz H, Goldberg I, Enk CD, Sarig O, Meilik B, Aberdam D, Gilhar A, Sprecher E. Nousbeck J, et al. Among authors: sprecher e. J Invest Dermatol. 2011 Aug;131(8):1767-70. doi: 10.1038/jid.2011.108. Epub 2011 May 12. J Invest Dermatol. 2011. PMID: 21562573 Free article. No abstract available.
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris.
Eytan O, Qiaoli L, Nousbeck J, van Steensel MA, Burger B, Hohl D, Taïeb A, Prey S, Bachmann D, Avitan-Hersh E, Jin Chung H, Shemer A, Trau H, Bergman R, Fuchs-Telem D, Warshauer E, Israeli S, Itin PH, Sarig O, Uitto J, Sprecher E. Eytan O, et al. Among authors: sprecher e. Br J Dermatol. 2014 May;170(5):1196-8. doi: 10.1111/bjd.12799. Br J Dermatol. 2014. PMID: 24359224 No abstract available.
579 results