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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: okuyama t. 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
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: okuyama t. 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.
Pathological characterization of pachydermia in pachydermoperiostosis.
Tanese K, Niizeki H, Seki A, Otsuka A, Kabashima K, Kosaki K, Kuwahara M, Miyakawa S, Miyasaka M, Matsuoka K, Okuyama T, Shiohama A, Sasaki T, Kudoh J, Amagai M, Ishiko A. Tanese K, et al. Among authors: okuyama t. J Dermatol. 2015 Jul;42(7):710-4. doi: 10.1111/1346-8138.12869. Epub 2015 May 11. J Dermatol. 2015. PMID: 25964088 Free PMC article.
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T. Kosuga M, et al. Among authors: okuyama t. Mol Genet Metab. 2016 Jul;118(3):190-197. doi: 10.1016/j.ymgme.2016.05.003. Epub 2016 May 7. Mol Genet Metab. 2016. PMID: 27246110
Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Noguchi A, et al. Among authors: okuyama t. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117
1,399 results