Niizeki H - Search Results

1

Lack of cutis verticis gyrata is associated with c.1279_1290del12 of SLCO2A1 in 43 Japanese patients with pachydermoperiostosis.

Niizeki H, Tanaka R, Nomura T, Seki A, Miyasaka M, Matsumoto Y, Ishibashi M, Narumi S, Nakabayashi K, Yoshida K. Niizeki H, et al. J Dermatol Sci. 2024 May;114(2):86-88. doi: 10.1016/j.jdermsci.2024.03.008. Epub 2024 Mar 26. J Dermatol Sci. 2024. PMID: 38644096 No abstract available.

2

The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene.

Niizeki H, Shiohama A, Sasaki T, Seki A, Kabashima K, Otsuka A, Kosaki K, Ogo A, Yamada T, Miyasaka M, Matsuoka K, Hirakiyama A, Okuyama T, Matsuda M, Nakabayashi K, Tanese K, Ishiko A, Amagai M, Kudoh J. Niizeki H, et al. J Dermatol Sci. 2014 Sep;75(3):193-5. doi: 10.1016/j.jdermsci.2014.05.008. Epub 2014 Jun 2. J Dermatol Sci. 2014. PMID: 24929850 No abstract available.

3

Involvement of prostaglandin E2 in the first Japanese case of pachydermoperiostosis with HPGD mutation and recalcitrant leg ulcer.

Nakazawa S, Niizeki H, Matsuda M, Nakabayashi K, Seki A, Mori T, Tokura Y. Nakazawa S, et al. Among authors: niizeki h. J Dermatol Sci. 2015 May;78(2):153-5. doi: 10.1016/j.jdermsci.2015.02.002. Epub 2015 Feb 11. J Dermatol Sci. 2015. PMID: 25757862 No abstract available.

4

First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24.

Hayashi R, Yoshida K, Abe R, Niizeki H, Shimomura Y. Hayashi R, et al. Among authors: niizeki h. J Dermatol Sci. 2017 Jan;85(1):63-65. doi: 10.1016/j.jdermsci.2016.10.010. Epub 2016 Oct 19. J Dermatol Sci. 2017. PMID: 27780627 No abstract available.

5

Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.

Oiwa T, Ishibashi M, Okuno T, Ohba M, Endo Y, Uozumi R, Ghazawi FM, Yoshida K, Niizeki H, Yokomizo T, Nomura T, Kabashima K. Oiwa T, et al. Among authors: niizeki h. J Dermatol. 2021 Sep;48(9):1442-1446. doi: 10.1111/1346-8138.16012. Epub 2021 Jun 11. J Dermatol. 2021. PMID: 34114674

6

Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome.

Masunaga T, Niizeki H, Yasuda F, Yoshida K, Amagai M, Ishiko A. Masunaga T, et al. Among authors: niizeki h. J Dermatol Sci. 2015 Apr;78(1):61-6. doi: 10.1016/j.jdermsci.2015.01.016. Epub 2015 Feb 7. J Dermatol Sci. 2015. PMID: 25728941

7

Complete type of pachydermoperiostosis with a novel mutation c.510G>A of the SLCO2A1 gene.

Nakazawa S, Mori T, Niizeki H, Nakabayashi K, Tokura Y. Nakazawa S, et al. Among authors: niizeki h. J Dermatol. 2017 Dec;44(12):1411-1412. doi: 10.1111/1346-8138.13728. Epub 2016 Dec 27. J Dermatol. 2017. PMID: 28026033 No abstract available.

8

Infiltration of mast cells in pachydermia of pachydermoperiostosis.

Tanese K, Niizeki H, Seki A, Nakabayashi K, Nakazawa S, Tokura Y, Kawashima Y, Kubo A, Ishiko A. Tanese K, et al. Among authors: niizeki h. J Dermatol. 2017 Nov;44(11):1320-1321. doi: 10.1111/1346-8138.13770. Epub 2017 Feb 13. J Dermatol. 2017. PMID: 28191660 Free PMC article. No abstract available.

9

Role of Prostaglandin E-Major Urinary Metabolite Levels in Identifying the Phenotype of Pachydermoperiostosis.

Ishibashi M, Oiwa T, Nomura T, Yoshikawa Y, Niizeki H, Kabashima K. Ishibashi M, et al. Among authors: niizeki h. J Invest Dermatol. 2021 Dec;141(12):2973-2975. doi: 10.1016/j.jid.2021.04.025. Epub 2021 Jun 2. J Invest Dermatol. 2021. PMID: 34089722 Free article. No abstract available.

10

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis.

Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A, Kabashima K, Otsuka A, Ishiko A, Tanese K, Miyakawa S, Sakabe J, Kuwahara M, Amagai M, Okano H, Suematsu M, Kudoh J. Sasaki T, et al. Among authors: niizeki h. J Dermatol Sci. 2012 Oct;68(1):36-44. doi: 10.1016/j.jdermsci.2012.07.008. Epub 2012 Jul 27. J Dermatol Sci. 2012. PMID: 22906430

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