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Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin.
Ishikawa K, Furuhashi M, Sasaki T, Kudoh J, Tsuchisaka A, Hashimoto T, Sasaki T, Yoshioka H, Eshima N, Matsuda-Hirose H, Sakai T, Hatano Y, Fujiwara S. Ishikawa K, et al. Among authors: kudoh j. J Dermatol Sci. 2018 May 24:S0923-1811(18)30234-2. doi: 10.1016/j.jdermsci.2018.05.008. Online ahead of print. J Dermatol Sci. 2018. PMID: 29866520 No abstract available.
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: kudoh j. 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
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. Among authors: kudoh j. 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.
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. Among authors: kudoh j. 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
185 results