Aoki S - Search Results

1

Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism.

Asahina Y, Tahara U, Aoki S, Nakabayashi K, Tateishi C, Hayashi D, Amagai M, Tsuruta D, Kubo A. Asahina Y, et al. Among authors: aoki s. Eur J Hum Genet. 2023 Jun;31(6):716-720. doi: 10.1038/s41431-023-01316-w. Epub 2023 Mar 15. Eur J Hum Genet. 2023. PMID: 36922631 Free PMC article.

2

Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva.

Umegaki-Arao N, Sasaki T, Fujita H, Aoki S, Kameyama K, Amagai M, Seishima M, Kubo A. Umegaki-Arao N, et al. Among authors: aoki s. J Invest Dermatol. 2017 Apr;137(4):967-970. doi: 10.1016/j.jid.2016.11.016. Epub 2016 Nov 24. J Invest Dermatol. 2017. PMID: 27890787 Free article. No abstract available.

3

Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima-type palmoplantar keratosis.

Katsuno M, Shiohama A, Aoki S, Kitamura H, Sasaki T, Amagai M, Kubo A. Katsuno M, et al. Among authors: aoki s. J Dermatol. 2017 Jul;44(7):e146-e147. doi: 10.1111/1346-8138.13880. Epub 2017 Apr 25. J Dermatol. 2017. PMID: 28439958 No abstract available.

4

Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation.

Tanaka R, Umegaki-Arao N, Sasaki T, Aoki S, Yoshida K, Niizeki H, Kubo A. Tanaka R, et al. Among authors: aoki s. J Dermatol. 2018 Nov;45(11):e302-e303. doi: 10.1111/1346-8138.14344. Epub 2018 Apr 27. J Dermatol. 2018. PMID: 29701304 No abstract available.

5

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: aoki 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.

6

Novel gene mutations in Chédiak-Higashi syndrome with hyperpigmentation.

Fukuchi K, Tatsuno K, Sakaguchi K, Sano S, Sasaki T, Aoki S, Kubo A, Tokura Y. Fukuchi K, et al. Among authors: aoki s. J Dermatol. 2019 Nov;46(11):e416-e418. doi: 10.1111/1346-8138.14987. Epub 2019 Jun 27. J Dermatol. 2019. PMID: 31245861 No abstract available.

7

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3.

Saito S, Tanaka R, Sasaki T, Aoki S, Yasuhara R, Nakayama Y, Nagai T, Sonobe H, Ozawa Y, Kubo A. Saito S, et al. Among authors: aoki s. J Dermatol. 2020 Jan;47(1):e18-e20. doi: 10.1111/1346-8138.15118. Epub 2019 Oct 16. J Dermatol. 2020. PMID: 31621111 No abstract available.

8

A nonepidermolytic keratinocytic epidermal naevus associated with a postzygotic mutation in the gene encoding epidermal growth factor receptor.

Umegaki-Arao N, Ono N, Tanaka R, Sasaki T, Fujita H, Shiohama A, Aoki S, Amagai M, Kubo A. Umegaki-Arao N, et al. Among authors: aoki s. Br J Dermatol. 2020 May;182(5):1303-1305. doi: 10.1111/bjd.18729. Epub 2019 Dec 26. Br J Dermatol. 2020. PMID: 31745974 No abstract available.

9

Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3.

Tahara U, Ono N, Aoki S, Kawai T, Nakabayashi K, Hata K, Amagai M, Kubo A. Tahara U, et al. Among authors: aoki s. J Dermatol. 2020 Nov;47(11):e393-e394. doi: 10.1111/1346-8138.15550. Epub 2020 Aug 11. J Dermatol. 2020. PMID: 32783278 No abstract available.

10

Nagashima-type palmoplantar keratosis caused by biallelic maternal mutation of SERPINB7 with segmental uniparental disomy of chromosome 18q.

Hayakawa M, Tahara U, Ono N, Aoki S, Kawai T, Nakabayashi K, Hata K, Amagai M, Kubo A. Hayakawa M, et al. Among authors: aoki s. J Dermatol. 2020 Dec;47(12):e453-e454. doi: 10.1111/1346-8138.15603. Epub 2020 Sep 6. J Dermatol. 2020. PMID: 32892407 No abstract available.

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