Identification and Characterization of a Recessive Missense Mutation p Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis  Aiko Shiohama, Takashi Sasaki, Showbu Sato, Jun-ichi Sakabe, Taisuke Ito, Hideka Isoda, Yukari Zenke, Toshiaki Nakano, Tatsuo Maeda, Akira Ishiko, Kenji Kabashima, Yoshiki Tokura, Yoshihiko Mitsuhashi, Masayuki Amagai, Akiharu Kubo  Journal of Investigative Dermatology  Volume 136, Issue 1, Pages 325-328 (January 2016) DOI: 10.1038/JID.2015.347 Copyright © 2015 The Authors Terms and Conditions

Figure 1 Phenotype, genotype, and geographic origins of the NPPK individuals and their families. (a) Reddish hyperkeratosis of hands and feet extending to the dorsal surfaces of the fingers, toes, and to the Achilles tendon area. (b) Immunohistochemistry of control and patient stratum corneum with anti-SERPINB7 antibody. Bar: 100 μm. (c) Family trees with mutational status in NPPK families 1–5. (d) Immunoblot analysis of His-tagged wild-type and p.P277L mutant SERPINB7 expressed in baculovirus-infected silkworm. Arrows: recombinant SERPINB7. (e) The region of origin of the c.830C>T mutation carriers in this study. NPPK, Nagashima-type palmoplantar keratosis. Journal of Investigative Dermatology 2016 136, 325-328DOI: (10.1038/JID.2015.347) Copyright © 2015 The Authors Terms and Conditions