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A

Atsuo Kikuchi

tohoku university graduate school of medicine
H指数:25
被引数:2,817

个人简介

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教育背景

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工作经历

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荣誉奖项

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Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman

遗传检测揭示一种新型血栓素-1结构域包含蛋白1基因变体是导致一名79岁女性慢性水肿的原因

Clinical Genetics
IF2.3
2026-09-270
OAAI
Eiko Amo; Takafumi Toyohara; Naoya Saijo; Satoko Sato; Jun Takayama; Yoshiko Suto; Yuji Noguchi; Sosuke Kinomura; Yusuke Ishizuka; Shun Watanabe; Koichi Kikuchi; Rui Makino; Mai Yoshida; Yuji Oe; Tasuku Nagasawa; Koji Okamoto; Takehiro Suzuki; Mariko Miyazaki; Shinya Kawaguchi; Takashi Suzuki; Takaaki Abe; Shigeo Kure; Atsuo Kikuchi; Tetsuhiro Tanaka
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan
GENETICS IN MEDICINE
IF6.2
2024-08-011
PRE
Mikami-Saito, Yasuko; Wada, Yoichi; Arai-Ichinoi, Natsuko; Nakajima, Yoko; Suzuki-Ajihara, Sayaka; Murayama, Kei; Tanaka, Toju; Numakura, Chikahiko; Hamazaki, Takashi; Igarashi, Noboru; Esaki, Hiroyuki; Kagawa, Reiko; Kono, Tomotaka; Sawada, Takaaki; Sawada, Tomo; Nyuzuki, Hiromi; Hirai, Hiroki; Fumoto, Seiko; Matsuda, Junko; Matsunaga, Ayako; Maruyama, Shinsuke; Yamaguchi, Kenichiro; Yoshino, Miwa; Totsune, Eriko; Kikuchi, Atsuo; Ohura, Toshihiro; Kure, Shigeo
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
NATURE GENETICS
IF31.8
2024-05-072
OAAI
Narumi, Satoshi; Nagasaki, Keisuke; Kiriya, Mitsuo; Uehara, Erika; Akiba, Kazuhisa; Tanase-Nakao, Kanako; Shimura, Kazuhiro; Abe, Kiyomi; Sugisawa, Chiho; Ishii, Tomohiro; Miyako, Kenichi; Hasegawa, Yukihiro; Maruo, Yoshihiro; Muroya, Koji; Watanabe, Natsuko; Nishihara, Eijun; Ito, Yuka; Kogai, Takahiko; Kameyama, Kaori; Nakabayashi, Kazuhiko; Hata, Kenichiro; Fukami, Maki; Shima, Hirohito; Kikuchi, Atsuo; Takayama, Jun; Tamiya, Gen; Hasegawa, Tomonobu
Artificial placenta support of extremely preterm ovine fetuses at the border of viability for up to 336 hours with maintenance of systemic circulation but reduced somatic and organ growth
FRONTIERS IN PHYSIOLOGY
IF3.4
2023-08-243
OAAI
Usuda, Haruo; Ikeda, Hideyuki; Watanabe, Shimpei; Sato, Shinichi; Fee, Erin L.; Carter, Sean W. D.; Kumagai, Yusaku; Saito, Yuya; Takahashi, Tsukasa; Takahashi, Yuki; Kawamura, Shinichi; Hanita, Takushi; Saito, Masatoshi; Kikuchi, Atsuo; Choolani, Mahesh A.; Yaegashi, Nobuo; Kemp, Matthew W.
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

在IMAGE-I综合征患者中鉴定出的新型极点突变会导致细胞核中异常的亚细胞定位和蛋白质降解

JOURNAL OF MEDICAL GENETICS
IF3.7
2022-05-094
OAAI
Nakano, Tomohiro; Sasahara, Yoji; Kikuchi, Atsuo; Moriya, Kunihiko; Niizuma, Hidetaka; Niihori, Tetsuya; Shirota, Matsuyuki; Funayama, Ryo; Nakayama, Keiko; Aoki, Yoko; Kure, Shigeo
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2021-09-1533
OA
Segawa, Katsumori; Kikuchi, Atsuo; Noji, Tomoyasu; Sugiura, Yuki; Hiraga, Keita; Suzuki, Chigure; Haginoya, Kazuhiro; Kobayashi, Yasuko; Matsunaga, Mitsuhiro; Ochiai, Yuki; Yamada, Kyoko; Nishimura, Takuo; Iwasawa, Shinya; Shoji, Wataru; Sugihara, Fuminori; Nishino, Kohei; Kosako, Hidetaka; Ikawa, Masahito; Uchiyama, Yasuo; Suematsu, Makoto; Ishikita, Hiroshi; Kure, Shigeo; Nagata, Shigekazu
Defining the phenotype of FHF1 developmental and epileptic encephalopathy

定义FHF1发育性和癫痫性脑病的表型

EPILEPSIA
IF6.6
2020-07-0913
OAAI
Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L.; Minassian, Berge A.; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L.; Cooper, Gregory M.; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M.; Demos, Michelle; Scheffer, Ingrid E.; Specchio, Nicola
Biallelic GALM pathogenic variants cause a novel type of galactosemia (vol 21, pg 333, 2019)
GENETICS IN MEDICINE
IF6.2
2020-07-011
OAAI
Wada, Yoichi; Kikuchi, Atsuo; Arai-Ichinoi, Natsuko; Sakamoto, Osamu; Takezawa, Yusuke; Iwasawa, Shinya; Niihori, Tetsuya; Nyuzuki, Hiromi; Nakajima, Yoko; Ogawa, Erika; Ishige, Mika; Hirai, Hiroki; Sasai, Hideo; Fujiki, Ryoji; Shirota, Matsuyuki; Funayama, Ryo; Yamamoto, Masayuki; Ito, Tetsuya; Ohara, Osamu; Nakayama, Keiko; Aoki, Yoko; Koshiba, Seizo; Fukao, Toshiyuki; Kure, Shigeo
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

在小鼠中重述的人类LSS缺陷的代谢和病理概况

PLOS GENETICS
IF3.7
2020-02-2630
OAAI
Wada, Yoichi; Kikuchi, Atsuo; Kaga, Akimune; Shimizu, Naoki; Ito, Junya; Onuma, Ryo; Fujishima, Fumiyoshi; Totsune, Eriko; Sato, Ryo; Niihori, Tetsuya; Shirota, Matsuyuki; Funayama, Ryo; Sato, Kota; Nakazawa, Toru; Nakayama, Keiko; Aoki, Yoko; Aiba, Setsuya; Nakagawa, Kiyotaka; Kure, Shigeo

研究方向

暂未获取到该数据
S
Shigeo Kure
H 指数:58论文数:627被引数:1.5万
T
Tetsuya Niihori
H 指数:39论文数:131被引数:6,850
Y
Yoko Aoki
H 指数:49论文数:274被引数:9,871
K
Kazuhiro Haginoya
H 指数:38论文数:237被引数:5,002
Y
Yoichi Wada
H 指数:15论文数:47被引数:602
K
Keiko Nakayama
H 指数:85论文数:401被引数:3.3万
N
Natsuko Arai‐Ichinoi
H 指数:12论文数:27被引数:633
R
Ryo Funayama
H 指数:40论文数:162被引数:6,504
J
Jun Takayama
H 指数:20论文数:149被引数:1,574
M
Matsuyuki Shirota
H 指数:27论文数:128被引数:2,496