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A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis.
Sasaki T, Shiohama A, Kubo A, Kawasaki H, Ishida-Yamamoto A, Yamada T, Hachiya T, Shimizu A, Okano H, Kudoh J, Amagai M. Sasaki T, et al. J Allergy Clin Immunol. 2013 Nov;132(5):1111-1120.e4. doi: 10.1016/j.jaci.2013.08.027. Epub 2013 Sep 20. J Allergy Clin Immunol. 2013. PMID: 24060273
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: sasaki t. 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.
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. Among authors: sasaki t. 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.
Pathological characterization of pachydermia in pachydermoperiostosis.
Tanese K, Niizeki H, Seki A, Otsuka A, Kabashima K, Kosaki K, Kuwahara M, Miyakawa S, Miyasaka M, Matsuoka K, Okuyama T, Shiohama A, Sasaki T, Kudoh J, Amagai M, Ishiko A. Tanese K, et al. Among authors: sasaki t. J Dermatol. 2015 Jul;42(7):710-4. doi: 10.1111/1346-8138.12869. Epub 2015 May 11. J Dermatol. 2015. PMID: 25964088 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: sasaki t. 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.
9,152 results