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Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis.
Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M. Kubo A, et al. Among authors: amagai m. Am J Hum Genet. 2013 Nov 7;93(5):945-56. doi: 10.1016/j.ajhg.2013.09.015. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207119 Free PMC article.
The extracellular aminoterminal domain of bovine desmoglein 1 (Dsg1) is recognized only by certain pemphigus foliaceus sera, whereas its intracellular domain is recognized by both pemphigus vulgaris and pemphigus foliaceus sera.
Dmochowski M, Hashimoto T, Amagai M, Kudoh J, Shimizu N, Koch PJ, Franke WW, Nishikawa T. Dmochowski M, et al. Among authors: amagai m. J Invest Dermatol. 1994 Aug;103(2):173-7. doi: 10.1111/1523-1747.ep12392664. J Invest Dermatol. 1994. PMID: 8040606 Free article.
Abnormal keratin expression in circumscribed palmar hypokeratosis.
Ishiko A, Dekio I, Fujimoto A, Kameyama K, Sakamoto M, Benno Y, Amagai M, Nishikawa T. Ishiko A, et al. Among authors: amagai m. J Am Acad Dermatol. 2007 Aug;57(2):285-91. doi: 10.1016/j.jaad.2007.02.035. Epub 2007 Jun 5. J Am Acad Dermatol. 2007. PMID: 17553594
549 results