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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: kudoh j. 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.
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
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
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: kudoh j. 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.
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.
Microdeletion of the Down syndrome critical region at 21q22.
Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K. Fujita H, et al. Among authors: kudoh j. Am J Med Genet A. 2010 Apr;152A(4):950-3. doi: 10.1002/ajmg.a.33228. Am J Med Genet A. 2010. PMID: 20358607
A ScrFI polymorphism in the human ALPL gene.
Okuyama T, Matsuo N, Kudoh J, Shimizu N. Okuyama T, et al. Among authors: kudoh j. Nucleic Acids Res. 1991 Sep 25;19(18):5090. doi: 10.1093/nar/19.18.5090-a. Nucleic Acids Res. 1991. PMID: 1681495 Free PMC article.
185 results