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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: mitsuhashi y. 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: mitsuhashi y. 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.
Athlete's nodule.
Uchiyama M, Tsuboi R, Mitsuhashi Y. Uchiyama M, et al. Among authors: mitsuhashi y. J Dermatol. 2009 Nov;36(11):608-11. doi: 10.1111/j.1346-8138.2009.00718.x. J Dermatol. 2009. PMID: 19878395
Late-onset neurofibromatosis revealing NF1 mutation.
Uchiyama M, Sakai N, Maeda T, Tsuboi R, Mitsuhashi Y. Uchiyama M, et al. Among authors: mitsuhashi y. J Dermatol. 2015 Jan;42(1):104-5. doi: 10.1111/1346-8138.12729. Epub 2014 Dec 3. J Dermatol. 2015. PMID: 25470215 No abstract available.
Tiny disseminated angiomas from childhood.
Miyabe C, Okubo Y, Maeda T, Tsuboi R, Mitsuhashi Y. Miyabe C, et al. Among authors: mitsuhashi y. Eur J Dermatol. 2013 Sep-Oct;23(5):718-9. doi: 10.1684/ejd.2013.2119. Eur J Dermatol. 2013. PMID: 24126209 No abstract available.
268 results