Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Shinji Saitoh, Atsushi Ogawa, Keisuke Hamada, Masamune Sakamoto, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Publikováno v:
Clinical Genetics. 103:590-595
AFF3 at 2q11.2 encodes the nuclear transcriptional activator AF4/FMR2 Family Member 3. AFF3 constitutes super elongation complex like 3, which plays a role in promoting the expression of genes involved in neurogenesis and development. The degron moti
Autor:
Kenji Ichinomiya, Yoshihiko Shitara, Yasunari Sakai, Aya Inaba, Nobuhiko Okamoto, Kazuyori Yagyu, Naomichi Matsumoto, Kiyoko Sameshima, Adila Al-Kindy, Satoru Takeda, Yumi Habata, Masataka Hisano, Kunimasa Yan, Noriko Miyake, Toshifumi Suzuki, Masato Hiyane, Yasuko Kobayashi, Shuichi Ito, Hideaki Shiraishi, Mai Sato, Kazuhiro Haginoya, Seiji Mizuno, Noboru Fueki, Konomi Shimoda, Yuki Ueda, Kazuhiro Muramatsu, Yumiko Komatsu, Shigemi Kimura, Yu Tsuyusaki, Daisuke Ieda, Hiroshi Suzumura, Hirotomo Saitsu, Yoshinori Tsurusaki, Mitsuko Nakashima, Midori Nakajima, Shinji Saitoh, Kenji Kurosawa, Chikage Yoshizawa
Publikováno v:
Clinical Genetics. 90:526-535
Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimagin
Autor:
Nobuhiko Okamoto, Yonehiro Kanemura, Mami Yamasaki, Tatsuhiko Tsunoda, Atsushi Shimizu, Fuyuki Miya, Shinji Saitoh, Mitsuhiro Kato, Chiharu Torii, Kenjiro Kosaki
Publikováno v:
Clinical Genetics. 88:288-292
We developed a next-generation sequencing (NGS) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in ACT
Autor:
Hirotomo Saitsu, Yoshinao Wada, Hirofumi Kodera, Noriko Miyake, Yoshinori Tsurusaki, Isao Yuasa, Mitsuko Nakashima, Naomichi Matsumoto, Shinji Saitoh, Naoki Ando
Publikováno v:
Clinical Genetics. 87:455-460
The conserved oligomeric Golgi (COG) complex is involved in intra-Golgi retrograde trafficking, and mutations in six of its eight subunits have been reported in congenital disorders of glycosylation (CDG). Here we report a patient showing severe acqu
Publikováno v:
Clinical Genetics. 72:378-380
Autor:
Takahito Wada, Shinji Saitoh, Kyoung Chang Kim, Hirofumi Ohashi, Norio Niikawa, Tateo Kuno, Katsuyo Hashimoto
Publikováno v:
Clinical Genetics. 55:277-278