Recurrent KRT10 Variant in Ichthyosis with Confetti

por TAKEICHI, Takuya, SUGA, Yasushi, MIZUNO, Takashi, OKUNO, Yusuke, ICHIKAWA, Daisuke, KONO, Michihiro, LEE, John Y. W., MCGRATH, John A., AKIYAMA, Masashi
Publicado 2020

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

por Takeichi, Takuya, Lee, John Y. W., Okuno, Yusuke, Miyasaka, Yuki, Murase, Yuya, Yoshikawa, Takenori, Tanahashi, Kana, Nishida, Emi, Okamoto, Tatsuya, Ito, Komei, Muro, Yoshinao, Sugiura, Kazumitsu, Ohno, Tamio, McGrath, John A., Akiyama, Masashi
Publicado 2022

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

por Takeichi, Takuya, Torrelo, Antonio, Lee, John Y.W., Ohno, Yusuke, Lozano, María Luisa, Kihara, Akio, Liu, Lu, Yasuda, Yuka, Ishikawa, Junko, Murase, Takatoshi, Rodrigo, Ana Belén, Fernández-Crehuet, Pablo, Toi, Yoichiro, Mellerio, Jemima, Rivera, José, Vicente, Vicente, Kelsell, David P., Nishimura, Yutaka, Okuno, Yusuke, Kojima, Daiei, Ogawa, Yasushi, Sugiura, Kazumitsu, Simpson, Michael A., McLean, W.H. Irwin, Akiyama, Masashi, McGrath, John A.
Publicado 2017