Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Yoko Aoki"'
Autor:
Shingo Takahara, Sachiko Miyagawa-Tomita, Tetsuya Niihori, Yoko Aoki, Shin Ichi Inoue, Yoshikatsu Saiki, Yoichi Matsubara, Katsuhisa Matsuura, Yasumi Nakashima
Publikováno v:
EBioMedicine. 42:43-53
Background: Noonan syndrome (NS) is a genetic disorder characterized by short stature, a distinctive facial appearance, and heart defects. We recently discovered a novel NS gene, RIT1, which is a member of the RAS subfamily of small GTPases. NS patie
Autor:
Kenichi Komabayashi, Fumio Katsushima, Tatsuya Ikeda, Sueshi Ito, Hiroshi Yoshida, Shizuka Tanaka, Tsutomu Itagaki, Katsumi Mizuta, Yoko Matsuzaki, Yoko Aoki, Yuriko Katsushima
Publikováno v:
Vaccine. 37:1109-1117
Although coxsackievirus A6 (CV-A6) is generally recognized as a causative agent of herpangina in children, CV-A6 infections globally emerged as a new and major cause of epidemic hand-foot-and-mouth-diseases (HFMDs) around 2008. To clarify the longitu
Autor:
Hiromi Fujie, Atsuo Kikuchi, Masayuki Sasaki, Yoko Aoki, Yusuke Takezawa, Matsuyuki Shirota, Ryo Funayama, Shigeo Kure, Keiko Nakayama, Tetsuya Niihori
Publikováno v:
Brain and Development. 40:934-938
Background IARS2 encodes isoleucine-tRNA synthetase, which is aclass-1 amino acyl-tRNA synthetase. IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skele
Autor:
Naomi Hino-Fukuyo, Hiroki Kudo, Masaki Iwasaki, Tetsuya Niihori, Natsuko Arai-Ichinoi, Tojo Nakayama, Yuki Kubota, Ryo Funayama, Yoko Aoki, Tasuku Suzuki, Ryo Sato, Shigeo Kure, Kazuhiro Haginoya, Yuko Sato, Keiko Nakayama, Tomoko Kobayashi, Atsuo Kikuchi
Publikováno v:
Brain and Development. 39:337-340
We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant
Autor:
Eriko Nakano, Atsushi Masamune, Masao Nagasaki, Tetsuya Niihori, Tooru Shimosegawa, Yoko Aoki, Shin Hamada
Publikováno v:
Pancreatology. 16:814-818
Background/objectives The UBR1 gene encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1. Loss-of-function mutations in the UBR1 gene cause Johanson-Blizzard syndrome, which involves pancreatic exocrine insufficiency. No previous stu
Autor:
Hideki Nagano, Yoshihiro Yasui, Hiroe Kodama, Yoshio Mori, Takashi Kato, Katsuhiro Komase, Sachiko Murata, Hiroko Minagawa, Motohiko Okano, Tomoko Ogawa, Masahiro Miyoshi, Atsushi Ogura, Daiki Kanbayashi, Noriyuki Otsuki, Rika Komagome, Takako Kurata, Komei Shirabe, Masafumi Sakata, Yoko Aoki, Miwako Saikusa, Chiemi Hotta, Makoto Takeda, Mitsuhiro Hamasaki, Kiyoko Okamoto, Tetsuo Kase
Publikováno v:
Journal of Clinical Virology. 80:98-101
Background An easy and reliable assay for detection of the rubella virus is required to strengthen rubella surveillance. Although a TaqMan RT-PCR assay for detection of the rubella virus has been established in Japan, its utility for diagnostic purpo
Autor:
Naomi Hino-Fukuyo, Shigeo Kure, Yoko Aoki, Kazuhiro Haginoya, Tetsuya Niihori, Hiroyuki Yokoyama, Atsuo Kikuchi, Kazuie Iinuma, Keiko Nakayama, Mieko Hirose
Publikováno v:
Seizure. 50:144-146
Long-term outcome of West syndrome with a NR2F1 mutation.
Autor:
Matsuyuki Shirota, Natsuko Arai-Ichinoi, Erika Ogawa, Osamu Ohara, Keiko Nakayama, Toshiyuki Fukao, Yoko Nakajima, Masayuki Yamamoto, Hideo Sasai, Osamu Sakamoto, Yoichi Wada, Hiromi Nyuzuki, Ryoji Fujiki, Atsuo Kikuchi, Mika Ishige, Yusuke Takezawa, Hiroki Hirai, Shinya Iwasawa, Ryo Funayama, Yoko Aoki, Tetsuya Ito, Shigeo Kure, Tetsuya Niihori, Seizo Koshiba
Publikováno v:
Genetics in Medicine. 22:1281
Autor:
Tetsuya Niihori, Ohito Tano, Kenta Takahashi, Tetsuya Akiyama, Shuhei Nishiyama, Yasuaki Watanabe, Toshiaki Takahashi, Yoko Aoki, Maki Tateyama, Hiroshi Kuroda, Ayumi Nishiyama, Hitoshi Warita, Masashi Aoki, Masaaki Kato, Naoki Suzuki
Publikováno v:
Clinical Neurology and Neurosurgery. 150:194-196
• We present a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation with novel clinical manifestations.
Adoption of multigene panel testing for hereditary cancer 'CancerNext' in Tohoku University Hospital
Autor:
Chikashi Ishioka, Mari Tsubata, Hideharu Yamada, Masahiro Takahashi, Keigo Komine, Masanobu Takahashi, Sakura Hiraide, Tetsuya Niihori, Yoko Aoki, Hidekazu Shirota, Shin Takahashi
Publikováno v:
Annals of Oncology. 30:vi99
Recent developments of cancer genomic medicine increase importance of diagnosis and treatment of hereditary cancer syndrome. Currently, for diagnosis of hereditary cancer, we often perform sequencing analysis for single or couple of genes after scree