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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: sakabe j. 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.
Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis.
Shiohama A, Sasaki T, Sato S, Sakabe J, Ito T, Isoda H, Zenke Y, Nakano T, Maeda T, Ishiko A, Kabashima K, Tokura Y, Mitsuhashi Y, Amagai M, Kubo A. Shiohama A, et al. Among authors: sakabe j. J Invest Dermatol. 2016 Jan;136(1):325-8. doi: 10.1038/JID.2015.347. J Invest Dermatol. 2016. PMID: 26763456 Free article. No abstract available.
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.
Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A, Kabashima K, Otsuka A, Ishiko A, Tanese K, Miyakawa S, Sakabe J, Kuwahara M, Amagai M, Okano H, Suematsu M, Kudoh J. Sasaki T, et al. Among authors: sakabe j. J Dermatol Sci. 2012 Oct;68(1):36-44. doi: 10.1016/j.jdermsci.2012.07.008. Epub 2012 Jul 27. J Dermatol Sci. 2012. PMID: 22906430
A Japanese case of Mal de Meleda with SLURP1 mutation.
Sakabe J, Kabashima-Kubo R, Kubo A, Sasaki T, Tokura Y. Sakabe J, et al. J Dermatol. 2014 Aug;41(8):764-5. doi: 10.1111/1346-8138.12539. Epub 2014 Jul 2. J Dermatol. 2014. PMID: 24985918 No abstract available.
Flaky tail mouse denotes human atopic dermatitis in the steady state and by topical application with Dermatophagoides pteronyssinus extract.
Moniaga CS, Egawa G, Kawasaki H, Hara-Chikuma M, Honda T, Tanizaki H, Nakajima S, Otsuka A, Matsuoka H, Kubo A, Sakabe J, Tokura Y, Miyachi Y, Amagai M, Kabashima K. Moniaga CS, et al. Among authors: sakabe j. Am J Pathol. 2010 May;176(5):2385-93. doi: 10.2353/ajpath.2010.090957. Epub 2010 Mar 19. Am J Pathol. 2010. PMID: 20304960 Free PMC article.
Involvement of Wnt signaling in dermal fibroblasts.
Kabashima K, Sakabe J, Yoshiki R, Tabata Y, Kohno K, Tokura Y. Kabashima K, et al. Among authors: sakabe j. Am J Pathol. 2010 Feb;176(2):721-32. doi: 10.2353/ajpath.2010.090454. Epub 2009 Dec 30. Am J Pathol. 2010. PMID: 20042673 Free PMC article.
68 results