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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: itin p. 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: itin p. 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.
Muir-Torre syndrome.
Burger B, Itin P. Burger B, et al. Among authors: itin p. Dermatology. 2008;217(1):56-7; author reply 57. doi: 10.1159/000123520. Epub 2008 Apr 2. Dermatology. 2008. PMID: 18382105 Free article. No abstract available.
Mosaic manifestations of monogenic skin diseases.
Itin P, Burger B. Itin P, et al. J Dtsch Dermatol Ges. 2009 Sep;7(9):744-48. doi: 10.1111/j.1610-0387.2009.07033.x. J Dtsch Dermatol Ges. 2009. PMID: 19302403 Review. English, German.
326 results