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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: suzuki h. 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
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: suzuki h. 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.
Medical genetics and genomic medicine in Japan.
Suzuki H, Watanabe T, Uehara T, Kosaki K. Suzuki H, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):166-169. doi: 10.1002/ajmg.c.31702. Epub 2019 May 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 31111991 Review.
Frequent FGFR3 and Ras Gene Mutations in Skin Tags or Acrochordons.
Aoki S, Hirata Y, Kawai T, Nakabayashi K, Hata K, Suzuki H, Kosaki K, Amagai M, Kubo A. Aoki S, et al. Among authors: suzuki h. J Invest Dermatol. 2021 Nov;141(11):2756-2760.e8. doi: 10.1016/j.jid.2021.03.028. Epub 2021 Apr 30. J Invest Dermatol. 2021. PMID: 33940034 Free article. No abstract available.
Truncating mutation in CSNK2B and myoclonic epilepsy.
Sakaguchi Y, Uehara T, Suzuki H, Kosaki K, Takenouchi T. Sakaguchi Y, et al. Among authors: suzuki h. Hum Mutat. 2017 Nov;38(11):1611-1612. doi: 10.1002/humu.23307. Epub 2017 Sep 14. Hum Mutat. 2017. PMID: 28762608 No abstract available.
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca.
Oiso N, Kubo A, Shimizu A, Suzuki H, Kosaki K, Chikugo T, Nakabayashi K, Hata K, Yanagihara S, Ishikawa O, Matsubara Y, Amagai M, Kawada A. Oiso N, et al. Among authors: suzuki h. Int J Dermatol. 2020 Sep;59(9):e334-e336. doi: 10.1111/ijd.14883. Epub 2020 May 13. Int J Dermatol. 2020. PMID: 32406058 No abstract available.
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