Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities

by Masashi Ueda, Tohru Matsuki, Masahide Fukada, Shima Eda, Akie Toya, Akio Iio, Hidenori Tabata, Atsuo Nakayama
Published 2020-05-01

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy

by Masahide Fukada, Keitaro Yamada, Shima Eda, Ken Inoue, Chihiro Ohba, Naomichi Matsumoto, Hirotomo Saitsu, Atsuo Nakayama
Published 2019-07-01

Loss of deacetylation activity of Hdac6 affects emotional behavior in mice.

by Masahide Fukada, Atsuko Hanai, Atsuo Nakayama, Takayoshi Suzuki, Naoki Miyata, Ramona M Rodriguiz, William C Wetsel, Tso-Pang Yao, Yoshiharu Kawaguchi
Published 2012-01-01

Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis.

by Seishi Yamaguchi, Junichiro Machida, Munefumi Kamamoto, Masashi Kimura, Akio Shibata, Tadashi Tatematsu, Hitoshi Miyachi, Yujiro Higashi, Peter Jezewski, Atsuo Nakayama, Kazuo Shimozato, Yoshihito Tokita
Published 2014-01-01

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

by Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Hiroki Goto, Atsuo Nakayama, Takeshi Nishiyama, Katsu Takahashi, Masatoshi Sana, Akiko Ota, Junichiro Machida, Toru Nagao, Yoshihito Tokita
Published 2021-07-01

An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.

by Tadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, Junichiro Machida, Seishi Yamaguchi, Akio Shibata, Hiroki Goto, Atsuo Nakayama, Yujiro Higashi, Hitoshi Miyachi, Kazuo Shimozato, Naomichi Matsumoto, Yoshihito Tokita
Published 2015-01-01

A novel LRP6 variant in a Japanese family with oligodontia

by Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima, Naomi Tsuchida, Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Katsu Takahashi, Masatoshi Sana, Atsuo Nakayama, Shintaro Suzuki, Toru Nagao, Naomichi Matsumoto, Yoshihito Tokita
Published 2021-07-01