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Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Saito S, Saito Y, Sato S, Aoki S, Fujita H, Ito Y, Ono N, Funakoshi T, Kawai T, Suzuki H, Sasaki T, Tanaka T, Inoie M, Hata K, Kataoka K, Kosaki K, Amagai M, Nakabayashi K, Kubo A. Saito S, et al. Among authors: sato s. Am J Hum Genet. 2024 May 2;111(5):896-912. doi: 10.1016/j.ajhg.2024.03.017. Epub 2024 Apr 22. Am J Hum Genet. 2024. PMID: 38653249
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: sato s. 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.
Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Sato S, Fujita H, Ono N, Umegaki-Arao N, Kawai T, Nakabayashi K, Hata K, Yamada D, Matsubara Y, Kosaki K, Amagai M. Kubo A, et al. Among authors: sato s. J Invest Dermatol. 2019 Dec;139(12):2458-2466.e9. doi: 10.1016/j.jid.2019.05.020. Epub 2019 Jun 15. J Invest Dermatol. 2019. PMID: 31207227 Free 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: sato s. 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.
Single cell analysis in systemic sclerosis - A systematic review.
Fukasawa T, Yoshizaki-Ogawa A, Enomoto A, Yamashita T, Miyagawa K, Sato S, Yoshizaki A. Fukasawa T, et al. Among authors: sato s. Immunol Med. 2024 May 31:1-12. doi: 10.1080/25785826.2024.2360690. Online ahead of print. Immunol Med. 2024. PMID: 38818750 Review.
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