-
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
国際誌
Rumiko Izumi, Hitoshi Warita, Tetsuya Niihori, Yoshihiko Furusawa, Misa Nakano, Yasushi Oya, Kazuhiro Kato, Takuro Shiga, Kensuke Ikeda, Naoki Suzuki, Ichizo Nishino, Yoko Aoki, Masashi Aoki
Cerebellum (London, England) 2024年2月7日
DOI:
10.1007/s12311-024-01666-1
-
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.
国際誌
Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, Naoki Suzuki, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Hitoshi Warita, Maki Tateyama, Yoko Aoki, Masashi Aoki
Annals of clinical and translational neurology 2023年12月29日
DOI:
10.1002/acn3.51977
-
LZTR1欠損はEMT誘導とKLHL12依存的なコラーゲン分泌を制御することで腫瘍増殖と腫瘍転移を促進する
阿部 太紀, 菅野 新一郎, 新堀 哲也, 寺尾 美穂, 高田 修治, 青木 洋子
日本生化学会大会プログラム・講演要旨集 96回 [1P-666] 2023年10月
出版者・発行元:(公社)日本生化学会
-
LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion.
国際誌
Taiki Abe, Shin-Ichiro Kanno, Tetsuya Niihori, Miho Terao, Shuji Takada, Yoko Aoki
Cell death & disease 14 (8) 556-556 2023年8月25日
DOI:
10.1038/s41419-023-06072-9
-
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
国際誌
Yukimune Okubo, Moriei Shibuya, Haruhiko Nakamura, Aritomo Kawashima, Kaori Kodama, Wakaba Endo, Takehiko Inui, Noriko Togashi, Yu Aihara, Matsuyuki Shirota, Ryo Funayama, Tetsuya Niihori, Atsushi Fujita, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Shigeo Kure, Atsuo Kikuchi, Kazuhiro Haginoya
Brain & development 2023年7月11日
DOI:
10.1016/j.braindev.2023.06.009
-
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
国際誌
査読有り
Kodai Kume, Takashi Kurashige, Keiko Muguruma, Hiroyuki Morino, Yui Tada, Mai Kikumoto, Tatsuo Miyamoto, Silvia Natsuko Akutsu, Yukiko Matsuda, Shinya Matsuura, Masahiro Nakamori, Ayumi Nishiyama, Rumiko Izumi, Tetsuya Niihori, Masashi Ogasawara, Nobuyuki Eura, Tamaki Kato, Mamoru Yokomura, Yoshiaki Nakayama, Hidefumi Ito, Masataka Nakamura, Kayoko Saito, Yuichi Riku, Yasushi Iwasaki, Hirofumi Maruyama, Yoko Aoki, Ichizo Nishino, Yuishin Izumi, Masashi Aoki, Hideshi Kawakami
American journal of human genetics 110 (7) 1086-1097 2023年6月20日
DOI:
10.1016/j.ajhg.2023.05.014
-
Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.
国際誌
Koki Nagai, Tetsuya Niihori, Akihiko Muto, Yoshikazu Hayashi, Taiki Abe, Kazuhiko Igarashi, Yoko Aoki
Blood advances 2023年4月26日
DOI:
10.1182/bloodadvances.2022008462
-
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.
国際誌
Maako Kawamura, Hidekazu Shirota, Tetsuya Niihori, Keigo Komine, Masanobu Takahashi, Shin Takahashi, Eisaku Miyauchi, Hidetaka Niizuma, Atsuo Kikuchi, Hiroshi Tada, Muneaki Shimada, Naoki Kawamorita, Masayuki Kanamori, Ikuko Sugiyama, Mari Tsubata, Hitotshi Ichikawa, Jun Yasuda, Toru Furukawa, Yoko Aoki, Chikashi Ishioka
Journal of human genetics 68 (6) 399-408 2023年2月20日
DOI:
10.1038/s10038-023-01133-5
-
Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome.
Masahiro Irie, Tetsuya Niihori, Tomohiro Nakano, Tasuku Suzuki, Saori Katayama, Kunihiko Moriya, Hidetaka Niizuma, Nobu Suzuki, Yuka Saito-Nanjo, Masaei Onuma, Takeshi Rikiishi, Atsushi Sato, Mayumi Hangai, Mitsuteru Hiwatari, Junji Ikeda, Reo Tanoshima, Norio Shiba, Yuki Yuza, Nobuyuki Yamamoto, Yoshiko Hashii, Motohiro Kato, Junko Takita, Miho Maeda, Yoko Aoki, Masue Imaizumi, Yoji Sasahara
International journal of hematology 117 (4) 598-606 2022年12月14日
DOI:
10.1007/s12185-022-03505-7
-
Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations.
国際誌
Akifumi Nozawa, Akihiro Fujino, Shunsuke Yuzuriha, Souichi Suenobu, Aiko Kato, Fumiaki Shimizu, Noriko Aramaki-Hattori, Kanako Kuniyeda, Kazuya Sakaguchi, Hidenori Ohnishi, Yoko Aoki, Michio Ozeki
Journal of human genetics 67 (12) 721-728 2022年12月
DOI:
10.1038/s10038-022-01081-6
-
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
国際誌
Marco Tartaglia, Yoko Aoki, Bruce D Gelb
American journal of medical genetics. Part C, Seminars in medical genetics 190 (4) 425-439 2022年11月16日
DOI:
10.1002/ajmg.c.32012
-
Clinical decisions by the molecular tumor board on comprehensive genomic profiling tests in Japan: A retrospective observational study.
国際誌
Hidekazu Shirota, Keigo Komine, Masanobu Takahashi, Shin Takahashi, Eisaku Miyauchi, Hidetaka Niizuma, Hiroshi Tada, Muneaki Shimada, Tetsuya Niihori, Yoko Aoki, Ikuko Sugiyama, Maako Kawamura, Jun Yasuda, Shuhei Suzuki, Takeshi Iwaya, Motonobu Saito, Tsuyoshi Saito, Hiroyuki Shibata, Toru Furukawa, Chikashi Ishioka
Cancer medicine 12 (5) 6170-6181 2022年10月17日
DOI:
10.1002/cam4.5349
-
病的バリアントと確定しがたいdysferlin遺伝子のc.3725G>A(p.R1242H)の検討
高橋 俊明, 井泉 瑠美子, 鈴木 直輝, 八木沼 智香子, 島倉 奈緒子, 大矢 寧, 佐橋 功, 戸恒 智子, 杉村 容子, 谷口 さやか, 下瀬川 康子, 吉岡 勝, 馬場 徹, 大泉 英樹, 田中 洋康, 割田 仁, 新堀 哲也, 武田 篤, 青木 洋子, 青木 正志
臨床神経学 62 (Suppl.) S221-S221 2022年10月
出版者・発行元:(一社)日本神経学会
ISSN:0009-918X
eISSN:1882-0654
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A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
国際誌
Yu Aihara, Matsuyuki Shirota, Atsuo Kikuchi, Yu Katata, Yu Abe, Tetsuya Niihori, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
Journal of human genetics 2022年9月27日
DOI:
10.1038/s10038-022-01082-5
-
Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants.
Kinuko Ohneda, Yohei Hamanaka, Hiroshi Kawame, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Yumi Yamaguchi-Kabata, Muneaki Shimada, Atsushi Masamune, Yoko Aoki, Takanori Ishida, Masayuki Yamamoto
Breast cancer (Tokyo, Japan) 30 (1) 110-120 2022年9月26日
DOI:
10.1007/s12282-022-01404-7
-
全ゲノム/全エキソーム解析による生殖細胞系列多型の探索 一般住民コホートにおけるBRCA遺伝子バリアントの探索及び結果の回付事業について(Exploration of BRCA1/2 gene variants in a general population cohort and return of genomic results to the participants)
徳永 英樹, 安田 純, 島田 宗昭, 濱中 洋平, 重田 昌吾, 布施 昇男, 勝岡 史城, 荻島 創一, 山口 由美, 寳澤 篤, 川目 裕, 大根田 絹子, 青木 洋子, 山本 雅之, 八重樫 伸生
日本癌学会総会記事 81回 S8-1 2022年9月
出版者・発行元:(一社)日本癌学会
ISSN:0546-0476
-
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
国際誌
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho
Journal of medical genetics 59 (9) 865-877 2022年9月
DOI:
10.1136/jmedgenet-2020-107623
-
Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.
国際誌
Tadashi Shiohama, Katsunori Fujii, Rika Kosaki, Yoshimi Watanabe, Tomoko Uchida, Sho Hagiwara, Kaori Kinoshita, Katsuo Sugita, Yoko Aoki, Naoki Shimojo
American journal of medical genetics. Part A 188 (12) 3505-3509 2022年8月9日
DOI:
10.1002/ajmg.a.62926
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The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
国際誌
Maria I Kontaridis, Amy E Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E Axelrad, Annette Bakker, Anton M Bennett, Alberto Broniscer, Pau Castel, Caitlin A Chang, Lukas Cyganek, Tirtha K Das, Jeroen den Hertog, Emilia Galperin, Shruti Garg, Bruce D Gelb, Kristiana Gordon, Tamar Green, Karen W Gripp, Maxim Itkin, Maija Kiuru, Bruce R Korf, Jeff R Livingstone, Alejandro López-Juárez, Pilar L Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I Pierpont, Kevin Plouffe, Katherine A Rauen, Suma P Shankar, Shane B Smith, David A Stevenson, Marco Tartaglia, Richard Van, Morgan E Wagner, Stephanie M Ware, Martin Zenker
American journal of medical genetics. Part A 188 (6) 1915-1927 2022年6月
DOI:
10.1002/ajmg.a.62716
-
Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.
国際誌
Tomohiro Nakano, Yoji Sasahara, Atsuo Kikuchi, Kunihiko Moriya, Hidetaka Niizuma, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Shigeo Kure
Journal of medical genetics 59 (11) 1116-22 2022年5月9日
DOI:
10.1136/jmedgenet-2021-108300
-
Cardiac features of Noonan syndrome in Japanese patients.
国際誌
Yasuhiro Ichikawa, Hiroyuki Kuroda, Takeshi Ikegawa, Shun Kawai, Shin Ono, Ki-Sung Kim, Sadamitsu Yanagi, Kenji Kurosawa, Yoko Aoki, Hideaki Ueda
Cardiology in the young 1-6 2022年4月27日
DOI:
10.1017/S104795112200124X
-
A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants.
Kinuko Ohneda, Masahiro Hiratsuka, Hiroshi Kawame, Fuji Nagami, Yoichi Suzuki, Kichiya Suzuki, Akira Uruno, Mika Sakurai-Yageta, Yohei Hamanaka, Makiko Taira, Soichi Ogishima, Shinichi Kuriyama, Atsushi Hozawa, Hiroaki Tomita, Naoko Minegishi, Junichi Sugawara, Inaho Danjoh, Tomohiro Nakamura, Tomoko Kobayashi, Yumi Yamaguchi-Kabata, Shu Tadaka, Taku Obara, Eiji Hishimuma, Nariyasu Mano, Masaki Matsuura, Yuji Sato, Masateru Nakasone, Yohei Honkura, Jun Suzuki, Yukio Katori, Yoichi Kakuta, Atsushi Masamune, Yoko Aoki, Masaharu Nakayama, Shigeo Kure, Kengo Kinoshita, Nobuo Fuse, Masayuki Yamamoto
JMA journal 5 (2) 177-189 2022年4月15日
DOI:
10.31662/jmaj.2021-0156
-
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey.
国際誌
Akari Minamoto, Takahiro Yamada, Saki Shimada, Ichiro Kinoshita, Yoko Aoki, Katsutoshi Oda, Arisa Ueki, Satomi Higashigawa, Maki Morikawa, Yuki Sato, Akira Hirasawa, Masanobu Ogawa, Tomohiro Kondo, Masahiro Yoshioka, Masashi Kanai, Manabu Muto, Shinji Kosugi
Journal of human genetics 67 (10) 557-563 2022年3月23日
DOI:
10.1038/s10038-022-01028-x
-
A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex.
国際誌
Shin Ito, Aya Hashimoto, Kazunori Yamaguchi, Sadafumi Kawamura, Shingo Myoen, Maki Ogawa, Ikuro Sato, Takamichi Minato, Shingo Miyabe, Akira Nakazato, Keitaro Fujii, Mai Mochizuki, Haruna Fujimori, Keiichi Tamai, Tetsuya Niihori, Yoko Aoki, Akira Sugawara, Hironobu Sasano, Hiroshi Shima, Jun Yasuda
Molecular genetics & genomic medicine 10 (3) e1884 2022年3月
DOI:
10.1002/mgg3.1884
-
A rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report.
国際誌
Hiroshi Ninomiya, Michio Ozeki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Masayuki Inuzuka, Natsuko Obara, Kiyofumi Mochizuki, Masaya Kawaguchi, Yo Kaneko, Naoyuki Ohe, Yoko Aoki, Masayuki Matsuo, Toru Iwama, Hidenori Ohnishi
Medicine 101 (6) e28815 2022年2月11日
DOI:
10.1097/MD.0000000000028815
-
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.
国際誌
Miyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, Chikahiko Numakura, Shu-Ichi Matsuzawa, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Satoshi Makino, Gen Tamiya, Satoshi Nakano, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuo Mitsui, Kiyoshi Hayasaka
Journal of human genetics 67 (7) 393-397 2022年1月28日
DOI:
10.1038/s10038-022-01017-0
-
Phenotypic heterogeneity in individuals with MECOM variants in 2 families.
国際誌
Tetsuya Niihori, Reo Tanoshima, Yoji Sasahara, Atsushi Sato, Masahiro Irie, Yuka Saito-Nanjo, Ryo Funayama, Matsuyuki Shirota, Taiki Abe, Yuko Okuyama, Naoto Ishii, Keiko Nakayama, Shigeo Kure, Masue Imaizumi, Yoko Aoki
Blood advances 6 (18) 5257-5261 2022年1月12日
DOI:
10.1182/bloodadvances.2020003812
-
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
国際誌
Chiara Leoni, Germana Viscogliosi, Marco Tartaglia, Yoko Aoki, Giuseppe Zampino
Journal of multidisciplinary healthcare 15 1277-1296 2022年
DOI:
10.2147/JMDH.S291757
-
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
国際誌
Koki Nagai, Tetsuya Niihori, Nobuhiko Okamoto, Akane Kondo, Kenichi Suga, Tomoko Ohhira, Yasunobu Hayabuchi, Yukako Homma, Ryuji Nakagawa, Toshinobu Ifuku, Taiki Abe, Takeshi Mizuguchi, Naomichi Matsumoto, Yoko Aoki
Human mutation 43 (1) 3-15 2021年10月7日
DOI:
10.1002/humu.24287
-
LSS欠損症における組織特異的モデルマウスを用いた代謝および病理プロファイル
和田 陽一, 菊池 敦生, 加賀 元宗, 清水 直紀, 伊藤 隼哉, 新堀 哲也, 佐藤 孝太, 中澤 徹, 中山 啓子, 青木 洋子, 仲川 清隆, 呉 繁夫
日本先天代謝異常学会雑誌 37 126-126 2021年9月
出版者・発行元:(一社)日本先天代謝異常学会
ISSN:0912-0122
-
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project.
国際誌
Hiroshi Kawame, Akimune Fukushima, Nobuo Fuse, Fuji Nagami, Yoichi Suzuki, Mika Sakurai-Yageta, Jun Yasuda, Yumi Yamaguchi-Kabata, Kengo Kinoshita, Soichi Ogishima, Takako Takai, Shinichi Kuriyama, Atsushi Hozawa, Naoki Nakaya, Tomohiro Nakamura, Naoko Minegishi, Junichi Sugawara, Kichiya Suzuki, Hiroaki Tomita, Akira Uruno, Tomoko Kobayashi, Yayoi Aizawa, Tomoharu Tokutomi, Kayono Yamamoto, Kinuko Ohneda, Shigeo Kure, Yoko Aoki, Hideki Katagiri, Yasushi Ishigaki, Shojiro Sawada, Makoto Sasaki, Masayuki Yamamoto
Journal of human genetics 67 (1) 9-17 2021年7月8日
DOI:
10.1038/s10038-021-00952-8
-
遺伝性腫瘍リスク評価における問診票とインタビュー調査の有効性の検討
津幡 真理, 新堀 哲也, 永井 康貴, 野澤 明史, 多田 寛, 宮下 穣, 原田 成美, 佐藤 章子, 金澤 麻衣子, 石田 孝宣, 青木 洋子
日本遺伝カウンセリング学会誌 42 (2) 71-71 2021年6月
出版者・発行元:(一社)日本遺伝カウンセリング学会
ISSN:1347-9628
-
Characterization of kaposiform lymphangiomatosis tissue-derived cells.
国際誌
Akifumi Nozawa, Michio Ozeki, Shiho Yasue, Saori Endo, Kei Noguchi, Tomohiro Kanayama, Hiroyuki Tomita, Yoko Aoki, Hidenori Ohnishi
Pediatric blood & cancer 68 (10) e29086 2021年4月29日
DOI:
10.1002/pbc.29086
-
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
国際誌
Angelica Gualtieri, Nikolina Kyprianou, Louise C Gregory, Maria Lillina Vignola, James G Nicholson, Rachael Tan, Shin-Ichi Inoue, Valeria Scagliotti, Pedro Casado, James Blackburn, Fernando Abollo-Jimenez, Eugenia Marinelli, Rachael E J Besser, Wolfgang Högler, I Karen Temple, Justin H Davies, Andrey Gagunashvili, Iain C A F Robinson, Sally A Camper, Shannon W Davis, Pedro R Cutillas, Evelien F Gevers, Yoko Aoki, Mehul T Dattani, Carles Gaston-Massuet
Nature communications 12 (1) 2028-2028 2021年4月1日
DOI:
10.1038/s41467-021-21712-4
-
A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
国際誌
Aya Inoue-Shibui, Tetsuya Niihori, Michio Kobayashi, Naoki Suzuki, Rumiko Izumi, Hitoshi Warita, Kenju Hara, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Ichizo Nishino, Masashi Aoki, Yoko Aoki
Journal of human genetics 66 (10) 965-972 2021年3月20日
DOI:
10.1038/s10038-021-00916-y
-
A Patient with Noonan Syndrome with a <b><i>KRAS</i></b> Mutation Who Presented Severe Nerve Root Hypertrophy
Yoshihito Ando, Mikio Sawada, Tadataka Kawakami, Mitsuya Morita, Yoko Aoki
Case Reports in Neurology 13 (1) 108-118 2021年2月16日
出版者・発行元:S. Karger AG
DOI:
10.1159/000512265
eISSN:1662-680X
-
Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis.
国際誌
Shin Hisahara, Ayumi Nishiyama, Emiko Tsuda, Syuuichirou Suzuki, Akihiro Matsumura, Aki Ishikawa, Akihiro Sakurai, Ikuko N Motoike, Masashi Aoki, Yoko Aoki, Shun Shimohama
Neurology. Genetics 7 (1) e552 2021年2月
DOI:
10.1212/NXG.0000000000000552
-
Costello syndrome model mice with a HrasG12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis.
国際誌
Yu Katata, Shin-Ichi Inoue, Atsuko Asao, Shuhei Kobayashi, Hitoshi Terui, Aya Inoue-Shibui, Taiki Abe, Tetsuya Niihori, Setsuya Aiba, Naoto Ishii, Shigeo Kure, Yoko Aoki
Cell death & disease 11 (8) 617-617 2020年8月13日
DOI:
10.1038/s41419-020-02845-8
-
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
国際誌
Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, Shigeo Kure
Genetics in medicine : official journal of the American College of Medical Genetics 22 (7) 1281-1281 2020年7月
DOI:
10.1038/s41436-020-0836-z
-
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease.
国際誌
査読有り
Akifumi Nozawa, Michio Ozeki, Tetsuya Niihori, Natsuko Suzui, Tatsuhiko Miyazaki, Yoko Aoki
Journal of human genetics 65 (11) 995-1001 2020年6月26日
DOI:
10.1038/s10038-020-0794-y
-
当院で行った遺伝性出血性毛細血管拡張症(HHT)に関する遺伝カウンセリング
津幡 真理, 新堀 哲也, 永井 康貴, 井上 彩, 野澤 明史, 青木 洋子
日本遺伝カウンセリング学会誌 41 (2) 66-66 2020年6月
出版者・発行元:(一社)日本遺伝カウンセリング学会
ISSN:1347-9628
-
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
国際誌
査読有り
Rumiko Izumi, Toshiaki Takahashi, Naoki Suzuki, Tetsuya Niihori, Hiroya Ono, Naoko Nakamura, Shinichi Katada, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Yoko Aoki, Masashi Aoki
Human mutation 41 (9) 1540-1554 2020年5月12日
DOI:
10.1002/humu.24036
-
Japanese Clinical Practice Guidelines for Vascular Anomalies 2017.
国際誌
査読有り
Hidefumi Mimura, Sadanori Akita, Akihiro Fujino, Masatoshi Jinnin, Mine Ozaki, Keigo Osuga, Hiroki Nakaoka, Eiichi Morii, Akira Kuramochi, Yoko Aoki, Yasunori Arai, Noriko Aramaki, Masanori Inoue, Yuki Iwashina, Tadashi Iwanaka, Shigeru Ueno, Akihiro Umezawa, Michio Ozeki, Junko Ochi, Yoshiaki Kinoshita, Masakazu Kurita, Shien Seike, Nobuyuki Takakura, Masataka Takahashi, Takao Tachibana, Kumiko Chuman, Shuji Nagata, Mitsunaga Narushima, Yasunari Niimi, Shunsuke Nosaka, Taiki Nozaki, Kazuki Hashimoto, Ayato Hayashi, Satoshi Hirakawa, Atsuko Fujikawa, Yumiko Hori, Kentaro Matsuoka, Hideki Mori, Yuki Yamamoto, Shunsuke Yuzuriha, Naoaki Rikihisa, Shoji Watanabe, Shinichi Watanabe, Tatsuo Kuroda, Shunsuke Sugawara, Kosuke Ishikawa, Satoru Sasaki
The Journal of dermatology 47 (5) e138-e183 2020年5月
DOI:
10.1111/1346-8138.15189
-
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.
国際誌
査読有り
Atsushi Masamune, Hiroshi Kotani, Franziska Lena Sörgel, Jian-Min Chen, Shin Hamada, Reiko Sakaguchi, Emmanuelle Masson, Eriko Nakano, Yoichi Kakuta, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Tatsuya Hirano, Tetsuya Kawamoto, Atsuki Hosokoshi, Kiyoshi Kume, Lara Unger, Maren Ewers, Helmut Laumen, Peter Bugert, Masayuki X Mori, Volodymyr Tsvilovskyy, Petra Weißgerber, Ulrich Kriebs, Claudia Fecher-Trost, Marc Freichel, Kalliope N Diakopoulos, Alexandra Berninger, Marina Lesina, Kentaro Ishii, Takao Itoi, Tsukasa Ikeura, Kazuichi Okazaki, Tom Kaune, Jonas Rosendahl, Masao Nagasaki, Yasuhito Uezono, Hana Algül, Keiko Nakayama, Yoichi Matsubara, Yoko Aoki, Claude Férec, Yasuo Mori, Heiko Witt, Tooru Shimosegawa
Gastroenterology 158 (6) 1626-1641 2020年5月
DOI:
10.1053/j.gastro.2020.01.005
-
Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome.
国際誌
Masahiro Yamamoto, Seiji Takashio, Naoya Nakashima, Shinsuke Hanatani, Yuichiro Arima, Kenji Sakamoto, Eiichiro Yamamoto, Koichi Kaikita, Yoko Aoki, Kenichi Tsujita
ESC heart failure 7 (2) 721-726 2020年4月
DOI:
10.1002/ehf2.12650
-
Japanese clinical practice guidelines for vascular anomalies 2017.
査読有り
Hidefumi Mimura, Sadanori Akita, Akihiro Fujino, Masatoshi Jinnin, Mine Ozaki, Keigo Osuga, Hiroki Nakaoka, Eiichi Morii, Akira Kuramochi, Yoko Aoki, Yasunori Arai, Noriko Aramaki, Masanori Inoue, Yuki Iwashina, Tadashi Iwanaka, Shigeru Ueno, Akihiro Umezawa, Michio Ozeki, Junko Ochi, Yoshiaki Kinoshita, Masakazu Kurita, Shien Seike, Nobuyuki Takakura, Masataka Takahashi, Takao Tachibana, Kumiko Chuman, Shuji Nagata, Mitsunaga Narushima, Yasunari Niimi, Shunsuke Nosaka, Taiki Nozaki, Kazuki Hashimoto, Ayato Hayashi, Satoshi Hirakawa, Atsuko Fujikawa, Yumiko Hori, Kentaro Matsuoka, Hideki Mori, Yuki Yamamoto, Shunsuke Yuzuriha, Naoaki Rikihisa, Shoji Watanabe, Shinichi Watanabe, Tatsuo Kuroda, Shunsuke Sugawara, Kosuke Ishikawa, Satoru Sasaki
Japanese journal of radiology 38 (4) 287-342 2020年4月
DOI:
10.1007/s11604-019-00885-5
-
Japanese clinical practice guidelines for vascular anomalies 2017.
国際誌
査読有り
Hidefumi Mimura, Sadanori Akita, Akihiro Fujino, Masatoshi Jinnin, Mine Ozaki, Keigo Osuga, Hiroki Nakaoka, Eiichi Morii, Akira Kuramochi, Yoko Aoki, Yasunori Arai, Noriko Aramaki, Masanori Inoue, Yuki Iwashina, Tadashi Iwanaka, Shigeru Ueno, Akihiro Umezawa, Michio Ozeki, Junko Ochi, Yoshiaki Kinoshita, Masakazu Kurita, Shien Seike, Nobuyuki Takakura, Masataka Takahashi, Takao Tachibana, Kumiko Chuman, Shuji Nagata, Mitsunaga Narushima, Yasunari Niimi, Shunsuke Nosaka, Taiki Nozaki, Kazuki Hashimoto, Ayato Hayashi, Satoshi Hirakawa, Atsuko Fujikawa, Yumiko Hori, Kentaro Matsuoka, Hideki Mori, Yuki Yamamoto, Shunsuke Yuzuriha, Naoaki Rikihisa, Shoji Watanabe, Shinichi Watanabe, Tatsuo Kuroda, Shunsuke Sugawara, Kosuke Ishikawa, Satoru Sasaki
Pediatrics international : official journal of the Japan Pediatric Society 62 (3) 257-304 2020年3月
DOI:
10.1111/ped.14077
-
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
国際誌
査読有り
Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, Naoki Shimizu, Junya Ito, Ryo Onuma, Fumiyoshi Fujishima, Eriko Totsune, Ryo Sato, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Kota Sato, Toru Nakazawa, Keiko Nakayama, Yoko Aoki, Setsuya Aiba, Kiyotaka Nakagawa, Shigeo Kure
PLoS genetics 16 (2) e1008628 2020年2月26日
DOI:
10.1371/journal.pgen.1008628
-
RRAS2の活性化変異はヌーナン症候群を引き起こす
新堀 哲也, 永井 康貴, 大橋 博文, 岡本 伸彦, 岡田 賢, 木原 裕貴, 青木 洋子
日本小児科学会雑誌 124 (2) 236-236 2020年2月
出版者・発行元:(公社)日本小児科学会
ISSN:0001-6543
-
がん遺伝子パネル検査の時代を迎えて 治療に直結した2例の報告
新妻 秀剛, 片山 紗乙莉, 森谷 邦彦, 渡辺 祐子, 入江 正寛, 力石 健, 新堀 哲也, 青木 洋子, 末原 義之, 加藤 俊介, 笹原 洋二, 呉 繁夫
日本小児科学会雑誌 124 (1) 99-99 2020年1月
出版者・発行元:(公社)日本小児科学会
ISSN:0001-6543
-
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.
国際誌
査読有り
Niitsuma S, Kudo H, Kikuchi A, Hayashi T, Kumakura S, Kobayashi S, Okuyama Y, Kumagai N, Niihori T, Aoki Y, So T, Funayama R, Nakayama K, Shirota M, Kondo S, Kagami S, Tsukaguchi H, Iijima K, Kure S, Ishii N
International immunology 2019年12月24日
DOI:
10.1093/intimm/dxz081
ISSN:0953-8178
-
Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome.
査読有り
Yasuko Shoji, Shinobu Ida, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Yuri Etani, Masanobu Kawai
Endocrine journal 66 (11) 983-994 2019年11月28日
DOI:
10.1507/endocrj.EJ18-0564
ISSN:0918-8959
-
日本人dysferlin遺伝子解析で見出されたバリアントの一般頻度による病的意義の推定
高橋 俊明, 鈴木 直輝, 井泉 瑠美子, 八木沼 智香子, 小野 洋也, 島倉 奈緒子, 大城 咲, 杉村 容子, 谷口 さやか, 下瀬川 康子, 馬場 徹, 大泉 英樹, 田中 洋康, 吉岡 勝, 割田 仁, 新堀 哲也, 武田 篤, 青木 洋子, 青木 正志
臨床神経学 59 (Suppl.) S257-S257 2019年11月
出版者・発行元:(一社)日本神経学会
ISSN:0009-918X
eISSN:1882-0654
-
Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis.
国際誌
査読有り
Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Toshiyuki Fukao
Orphanet journal of rare diseases 14 (1) 215-215 2019年9月11日
DOI:
10.1186/s13023-019-1191-5
-
GALMの両アレル性変異はガラクトース血症IV型を呈する
和田 陽一, 菊池 敦生, 市野井 那津子, 坂本 修, 岩澤 伸哉, 竹澤 祐介, 新堀 哲也, 入月 浩美, 中島 葉子, 小川 えりか, 石毛 美夏, 平井 洋生, 笹井 英雄, 藤木 亮次, 伊藤 哲哉, 小原 收, 青木 洋子, 深尾 敏幸, 呉 繁夫
日本先天代謝異常学会雑誌 35 114-114 2019年9月
出版者・発行元:日本先天代謝異常学会
ISSN:0912-0122
-
Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm.
国際誌
査読有り
Ogihara Y, Fujimoto N, Ohashi H, Yamamoto N, Ito H, Mitani Y, Aoki Y, Imanaka-Yosida K, Ito M, Dohi K
Circulation. Cardiovascular imaging 12 (9) e009429 2019年9月
DOI:
10.1161/CIRCIMAGING.119.009429
ISSN:1941-9651
-
LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.
国際誌
査読有り
Taiki Abe, Ikumi Umeki, Shin-Ichiro Kanno, Shin-Ichi Inoue, Tetsuya Niihori, Yoko Aoki
Cell death and differentiation 27 (3) 1023-1035 2019年7月23日
DOI:
10.1038/s41418-019-0395-5
ISSN:1350-9047
-
幼少期に網膜血管腫から診断されたvon Hippel-Lindau病の1例
津幡 真理, 永井 康貴, 堅田 有宇, 井上 彩, 新堀 哲也, 青木 洋子
日本遺伝カウンセリング学会誌 40 (2) 149-149 2019年7月
出版者・発行元:(一社)日本遺伝カウンセリング学会
ISSN:1347-9628
-
MAPK8IP3遺伝子のde novo病的バリアントは痙性両麻痺、脳構造異常を伴う知的発達障害の原因となる
要 匡, 柳 久美子, 岩澤 伸哉, 菊池 敦生, 黒澤 健司, 松本 浩, 竹下 芽衣子, 小林 奈々, 川目 裕, 青木 洋子, 松本 直通, 東海林 亙, 呉 繁夫, 松原 洋一
日本遺伝カウンセリング学会誌 40 (2) 91-91 2019年7月
出版者・発行元:(一社)日本遺伝カウンセリング学会
ISSN:1347-9628
-
大規模ゲノムコホート調査におけるBRCA1/2遺伝子の病的バリアント保持者への遺伝情報回付に関する課題
濱中 洋平, 石田 孝宣, 布施 昇男, 川目 裕, 山口 由美, 安田 純, 多田 寛, 宮下 穣, 原田 成美, 佐藤 章子, 青木 洋子, 長神 風二, 八重樫 伸生, 木下 賢吾, 呉 繁夫, 山本 雅之
日本乳癌学会総会プログラム抄録集 27回 332-332 2019年7月
出版者・発行元:(一社)日本乳癌学会
-
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
国際誌
査読有り
Tetsuya Niihori, Koki Nagai, Atsushi Fujita, Hirofumi Ohashi, Nobuhiko Okamoto, Satoshi Okada, Atsuko Harada, Hirotaka Kihara, Thomas Arbogast, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Taiki Abe, Shin-Ichi Inoue, I-Chun Tsai, Naomichi Matsumoto, Erica E Davis, Nicholas Katsanis, Yoko Aoki
American journal of human genetics 104 (6) 1233-1240 2019年6月6日
DOI:
10.1016/j.ajhg.2019.04.014
ISSN:0002-9297
-
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
国際誌
査読有り
Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, Yasuko Kobayashi, Kazuhiro Haginoya, Hiroshi Matsumoto, Kenji Kurosawa, Masayuki Ochiai, Yasunari Sakai, Atsushi Fujita, Noriko Miyake, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Shigeaki Nonoyama, Shouichi Ohga, Hiroshi Kawame, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Tadashi Kaname, Yoichi Matsubara, Wataru Shoji, Shigeo Kure
Annals of neurology 85 (6) 927-933 2019年6月
DOI:
10.1002/ana.25481
ISSN:0364-5134
-
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
国際誌
査読有り
Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, Shigeo Kure
Genetics in medicine : official journal of the American College of Medical Genetics 21 (6) 1286-1294 2019年6月
DOI:
10.1038/s41436-018-0340-x
ISSN:1098-3600
-
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
国際誌
査読有り
Sato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, Saeko Yamamura-Suzuki, Mai Anzai, Yusuke Takezawa, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuo Kikuchi, Tetsuya Niihori, Yoko Aoki, Shigeo Kure, Kazuhiro Haginoya
Journal of human genetics 64 (5) 499-504 2019年5月
DOI:
10.1038/s10038-019-0579-3
ISSN:1434-5161
-
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
国際誌
査読有り
Takahara S, Inoue SI, Miyagawa-Tomita S, Matsuura K, Nakashima Y, Niihori T, Matsubara Y, Saiki Y, Aoki Y
EBioMedicine 42 43-53 2019年4月
DOI:
10.1016/j.ebiom.2019.03.014
-
遺伝学的分析から特定された17患者中9名における病原性変異の候補(Genomic analysis identified candidate pathogenic variants in 9 of 17 patients)
Takezawa Yusuke, Kikuchi Atsuo, Haginoya Kazuhiro, Niihari Tetsuya, Numata-Uematsu Yurika, Inui Takehiko, Yamamura-Suzuki Saeko, Miyabayashi Takuya, Anzai Mai, Suzuki-Muromoto Sato, Okubo Yukimune, Endo Wakaba, Togashi Noriko, Kobayashi Yasuko, Onuma Akira, Funayama Ryo, Shirota Matsuyuki, Nakayama Keiko, Aoki Yoko, Kure Shigeo
日本小児科学会雑誌 123 (2) 292-292 2019年2月
出版者・発行元:(公社)日本小児科学会
ISSN:0001-6543
-
C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome.
査読有り
Inoue SI, Morozumi N, Yoshikiyo K, Maeda H, Aoki Y
Human molecular genetics 28 (1) 74-83 2019年1月
DOI:
10.1093/hmg/ddy333
ISSN:0964-6906
-
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
国際誌
査読有り
Ikumi Umeki, Tetsuya Niihori, Taiki Abe, Shin-Ichiro Kanno, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Keisuke Nagasaki, Makoto Yoshida, Hirofumi Ohashi, Shin-Ichi Inoue, Yoichi Matsubara, Ikuma Fujiwara, Shigeo Kure, Yoko Aoki
Human genetics 138 (1) 21-35 2019年1月
DOI:
10.1007/s00439-018-1951-7
ISSN:0340-6717
-
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.
国際誌
査読有り
Yusuke Takezawa, Hiromi Fujie, Atsuo Kikuchi, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Masayuki Sasaki, Shigeo Kure
Brain & development 40 (10) 934-938 2018年11月
DOI:
10.1016/j.braindev.2018.06.010
ISSN:0387-7604
-
Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.
国際誌
査読有り
Akihiro Tamura, Suguru Uemura, Kousaku Matsubara, Eru Kozuki, Toshikatsu Tanaka, Nanako Nino, Takehito Yokoi, Atsuro Saito, Toshiaki Ishida, Daiichiro Hasegawa, Ikumi Umeki, Tetsuya Niihori, Yozo Nakazawa, Kenichi Koike, Yoko Aoki, Yoshiyuki Kosaka
Clinical case reports 6 (7) 1202-1207 2018年7月
DOI:
10.1002/ccr3.1568
-
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
国際誌
査読有り
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
Nature communications 9 (1) 1960-1960 2018年5月17日
DOI:
10.1038/s41467-018-04193-w
-
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.
国際誌
査読有り
Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
Brain & development 40 (5) 410-414 2018年5月
DOI:
10.1016/j.braindev.2017.12.015
ISSN:0387-7604
-
Genomic analysis identifies masqueraders of full-term cerebral palsy.
国際誌
査読有り
Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Tetsuya Niihori, Yurika Numata-Uematsu, Takehiko Inui, Saeko Yamamura-Suzuki, Takuya Miyabayashi, Mai Anzai, Sato Suzuki-Muromoto, Yukimune Okubo, Wakaba Endo, Noriko Togashi, Yasuko Kobayashi, Akira Onuma, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Shigeo Kure
Annals of clinical and translational neurology 5 (5) 538-551 2018年5月
DOI:
10.1002/acn3.551
-
Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.
国際誌
査読有り
Daiju Oba, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, Yasumi Nakashima, Tetsuya Niihori, Seiji Yamaguchi, Yoichi Matsubara, Yoko Aoki
EBioMedicine 27 138-150 2018年1月
DOI:
10.1016/j.ebiom.2017.11.029
-
Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.
国際誌
査読有り
Shin-Ichi Inoue, Shingo Takahara, Takeo Yoshikawa, Tetsuya Niihori, Kazuhiko Yanai, Yoichi Matsubara, Yoko Aoki
Human molecular genetics 26 (23) 4715-4727 2017年12月1日
DOI:
10.1093/hmg/ddx354
ISSN:0964-6906
-
Patient with a novel purine-rich element binding protein A mutation.
国際誌
査読有り
Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki
Congenital anomalies 57 (6) 201-204 2017年11月
DOI:
10.1111/cga.12214
ISSN:0914-3505
-
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis
査読有り
Hidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, Seira Hoshikawa, Tomoki Kosho, Daiju Oba, Seiji Sakano, Makiko Arakaki, Aya Yamada, Katsuyuki Nagashima, Koji Okabe, Satoshi Fukumoto, Eijiro Jimi, Anna Bigas, Keiichi I. Nakayama, Keiko Nakayama, Yoko Aoki, Wenyi Wei, Hiroyuki Inuzuka
MOLECULAR CELL 68 (4) 645-+ 2017年11月
出版者・発行元:CELL PRESS
DOI:
10.1016/j.molcel.2017.10.018
ISSN:1097-2765
eISSN:1097-4164
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Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
国際誌
査読有り
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
American journal of medical genetics. Part A 173 (9) 2346-2352 2017年9月
DOI:
10.1002/ajmg.a.38337
ISSN:1552-4825
-
Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation.
国際誌
査読有り
Naomi Hino-Fukuyo, Atsuo Kikuchi, Hiroyuki Yokoyama, Kazuie Iinuma, Mieko Hirose, Kazuhiro Haginoya, Tetsuya Niihori, Keiko Nakayama, Yoko Aoki, Shigeo Kure
Seizure 50 144-146 2017年8月
DOI:
10.1016/j.seizure.2017.06.018
ISSN:1059-1311
-
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
国際誌
査読有り
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu, Yoshiko Murakami
Human mutation 38 (7) 805-815 2017年7月
DOI:
10.1002/humu.23219
ISSN:1059-7794
-
Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.
国際誌
査読有り
Naoki Tode, Toshiaki Kikuchi, Tomohiro Sakakibara, Taizou Hirano, Akira Inoue, Shinya Ohkouchi, Tsutomu Tamada, Tatsuma Okazaki, Akira Koarai, Hisatoshi Sugiura, Tetsuya Niihori, Yoko Aoki, Keiko Nakayama, Kunio Matsumoto, Yoichi Matsubara, Masayuki Yamamoto, Akira Watanabe, Toshihiro Nukiwa, Masakazu Ichinose
Cancer science 108 (6) 1263-1270 2017年6月
DOI:
10.1111/cas.13233
ISSN:1347-9032
-
Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.
国際誌
査読有り
Ayumi Nishiyama, Tetsuya Niihori, Hitoshi Warita, Rumiko Izumi, Tetsuya Akiyama, Masaaki Kato, Naoki Suzuki, Yoko Aoki, Masashi Aoki
Neurobiology of aging 53 194.e1-194.e8-194.e8 2017年5月
DOI:
10.1016/j.neurobiolaging.2017.01.004
ISSN:0197-4580
-
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.
国際誌
査読有り
Hino-Fukuyo N, Kikuchi A, Iwasaki M, Sato Y, Kubota Y, Kobayashi T, Nakayama T, Haginoya K, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Funayama R, Nakayama K, Aoki Y, Kure S
Brain & development 39 (4) 337-340 2017年4月
DOI:
10.1016/j.braindev.2016.11.006
ISSN:0387-7604
-
Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation.
国際誌
査読有り
Ayumi Nishiyama, Hitoshi Warita, Toshiaki Takahashi, Naoki Suzuki, Shuhei Nishiyama, Ohito Tano, Tetsuya Akiyama, Yasuaki Watanabe, Kenta Takahashi, Hiroshi Kuroda, Masaaki Kato, Maki Tateyama, Tetsuya Niihori, Yoko Aoki, Masashi Aoki
Clinical neurology and neurosurgery 150 194-196 2016年11月
DOI:
10.1016/j.clineuro.2016.08.008
ISSN:0303-8467
-
Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan
査読有り
Atsushi Masamune, Eriko Nakano, Tetsuya Niihori, Shin Hamada, Masao Nagasaki, Yoko Aoki, Tooru Shimosegawa
PANCREATOLOGY 16 (5) 814-818 2016年9月
出版者・発行元:ELSEVIER SCIENCE BV
DOI:
10.1016/j.pan.2016.06.662
ISSN:1424-3903
eISSN:1424-3911
-
Human genetic variation database, a reference database of genetic variations in the Japanese population.
国際誌
査読有り
Koichiro Higasa, Noriko Miyake, Jun Yoshimura, Kohji Okamura, Tetsuya Niihori, Hirotomo Saitsu, Koichiro Doi, Masakazu Shimizu, Kazuhiko Nakabayashi, Yoko Aoki, Yoshinori Tsurusaki, Shinichi Morishita, Takahisa Kawaguchi, Osuke Migita, Keiko Nakayama, Mitsuko Nakashima, Jun Mitsui, Maiko Narahara, Keiko Hayashi, Ryo Funayama, Daisuke Yamaguchi, Hiroyuki Ishiura, Wen-Ya Ko, Kenichiro Hata, Takeshi Nagashima, Ryo Yamada, Yoichi Matsubara, Akihiro Umezawa, Shoji Tsuji, Naomichi Matsumoto, Fumihiko Matsuda
Journal of human genetics 61 (6) 547-53 2016年6月
DOI:
10.1038/jhg.2016.12
ISSN:1434-5161
-
ヌーナン症候群の遺伝カウンセリング
川戸 和美, 松田 圭子, 三島 祐子, 山本 悠斗, 新堀 哲也, 青木 洋子, 岡本 伸彦
日本遺伝カウンセリング学会誌 37 (1) 87-87 2016年3月
出版者・発行元:(一社)日本遺伝カウンセリング学会
ISSN:1347-9628
-
Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
国際誌
査読有り
Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, Shion Hayashi, Atsushi Watanabe, Masato Yokozawa, Hiroshi Suzumura, Akihiko Nakahara, Yusuke Nakano, Tatsunori Hokosaki, Ayumi Ohmori, Hirofumi Sawada, Ohsuke Migita, Aya Mima, Pablo Lapunzina, Fernando Santos-Simarro, Sixto García-Miñaúr, Tsutomu Ogata, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Shin-Ichi Inoue, Yoichi Matsubara, Shigeo Kure, Yoko Aoki
Human genetics 135 (2) 209-22 2016年2月
DOI:
10.1007/s00439-015-1627-5
ISSN:0340-6717
-
Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.
国際誌
査読有り
Yuko Watanabe, Kosuke Shido, Tetsuya Niihori, Hidetaka Niizuma, Yu Katata, Chie Iizuka, Daiju Oba, Kunihiko Moriya, Yuka Saito-Nanjo, Masaei Onuma, Takeshi Rikiishi, Yoji Sasahara, Mika Watanabe, Setsuya Aiba, Ryuta Saito, Yukihiko Sonoda, Teiji Tominaga, Yoko Aoki, Shigeo Kure
American journal of medical genetics. Part A 170A (1) 189-94 2016年1月
DOI:
10.1002/ajmg.a.37376
ISSN:1552-4825
-
Recent advances in RASopathies.
国際誌
査読有り
Yoko Aoki, Tetsuya Niihori, Shin-ichi Inoue, Yoichi Matsubara
Journal of human genetics 61 (1) 33-9 2016年1月
DOI:
10.1038/jhg.2015.114
ISSN:1434-5161
-
Metachondromatosis without enchondromas
査読有り
Kohei Kanaya, Aki Ishikawa, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Kousuke Iba, Toshihiko Yamashita
JBJS Case Connector 6 (2) e30 2016年
出版者・発行元:Lippincott Williams and Wilkins
DOI:
10.2106/JBJS.CC.15.00182
ISSN:2160-3251
-
Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
国際誌
査読有り
Mitsuji Moriya, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, Yasumi Nakashima, Daiju Oba, Tetsuya Niihori, Misato Hashi, Hiroshi Ohnishi, Shigeo Kure, Yoichi Matsubara, Yoko Aoki
Human molecular genetics 24 (25) 7349-60 2015年12月20日
DOI:
10.1093/hmg/ddv435
ISSN:0964-6906
-
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
国際誌
査読有り
Tetsuya Niihori, Meri Ouchi-Uchiyama, Yoji Sasahara, Takashi Kaneko, Yoshiko Hashii, Masahiro Irie, Atsushi Sato, Yuka Saito-Nanjo, Ryo Funayama, Takeshi Nagashima, Shin-Ichi Inoue, Keiko Nakayama, Keiichi Ozono, Shigeo Kure, Yoichi Matsubara, Masue Imaizumi, Yoko Aoki
American journal of human genetics 97 (6) 848-54 2015年12月3日
DOI:
10.1016/j.ajhg.2015.10.010
ISSN:0002-9297
-
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
国際誌
査読有り
Rumiko Izumi, Tetsuya Niihori, Toshiaki Takahashi, Naoki Suzuki, Maki Tateyama, Chigusa Watanabe, Kazuma Sugie, Hirotaka Nakanishi, Gen Sobue, Masaaki Kato, Hitoshi Warita, Yoko Aoki, Masashi Aoki
Neurology. Genetics 1 (4) e36 2015年12月
DOI:
10.1212/NXG.0000000000000036
-
Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.
国際誌
査読有り
Eriko Nakano, Andrea Geisz, Atsushi Masamune, Tetsuya Niihori, Shin Hamada, Kiyoshi Kume, Yoichi Kakuta, Yoko Aoki, Yoichi Matsubara, Karolin Ebert, Maren Ludwig, Markus Braun, David A Groneberg, Tooru Shimosegawa, Miklós Sahin-Tóth, Heiko Witt
American journal of physiology. Gastrointestinal and liver physiology 309 (8) G688-94-94 2015年10月15日
DOI:
10.1152/ajpgi.00241.2015
ISSN:0193-1857
-
Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy
査読有り
Kei Takasawa, Shigeru Takishima, Chikako Morioka, Masato Nishioka, Hirofumi Ohashi, Yoko Aoki, Masayuki Shimohira, Kenichi Kashimada, Tomohiro Morio
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 167 (10) 2425-2429 2015年10月
出版者・発行元:WILEY-BLACKWELL
DOI:
10.1002/ajmg.a.37191
ISSN:1552-4825
eISSN:1552-4833
-
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.
国際誌
査読有り
Rumiko Izumi, Hitoshi Warita, Tetsuya Niihori, Toshiaki Takahashi, Maki Tateyama, Naoki Suzuki, Ayumi Nishiyama, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Satomi Mitsuhashi, Ichizo Nishino, Yoko Aoki, Masashi Aoki
Neurology. Genetics 1 (3) e23 2015年10月
DOI:
10.1212/NXG.0000000000000023
-
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
国際誌
査読有り
Yukiko Kuroda, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Naoko Baba, Yukichi Tanaka, Noriko Aida, Nobuhiko Okamoto, Tetsuya Niihori, Yoko Aoki, Kenji Kurosawa
American journal of medical genetics. Part A 167A (9) 2223-5 2015年9月
DOI:
10.1002/ajmg.a.37135
ISSN:1552-4825
-
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
国際誌
査読有り
Naomi Hino-Fukuyo, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Yuko Sato, Tojo Nakayama, Yosuke Kakisaka, Yuki Kubota, Tomoko Kobayashi, Ryo Funayama, Keiko Nakayama, Mitsugu Uematsu, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
Human genetics 134 (6) 649-58 2015年6月
DOI:
10.1007/s00439-015-1553-6
ISSN:0340-6717
-
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis.
国際誌
査読有り
Eriko Nakano, Atsushi Masamune, Tetsuya Niihori, Kiyoshi Kume, Shin Hamada, Yoko Aoki, Yoichi Matsubara, Tooru Shimosegawa
Digestive diseases and sciences 60 (5) 1297-307 2015年5月
DOI:
10.1007/s10620-014-3476-9
ISSN:0163-2116
-
Mutations in PIGL in a patient with Mabry syndrome.
国際誌
査読有り
Ikuma Fujiwara, Yoshiko Murakami, Tetsuya Niihori, Junko Kanno, Akiko Hakoda, Osamu Sakamoto, Nobuhiko Okamoto, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Taroh Kinoshita, Shigeo Kure, Yoichi Matsubara, Yoko Aoki
American journal of medical genetics. Part A 167A (4) 777-85 2015年4月
DOI:
10.1002/ajmg.a.36987
ISSN:1552-4825
-
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
国際誌
査読有り
Eriko Nishi, Seiji Mizuno, Yuka Nanjo, Tetsuya Niihori, Yoshimitsu Fukushima, Yoichi Matsubara, Yoko Aoki, Tomoki Kosho
American journal of medical genetics. Part A 167A (2) 407-11 2015年2月
DOI:
10.1002/ajmg.a.36842
ISSN:1552-4825
-
Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients
査読有り
Atilano Carcavilla, Sixto Garcia-Minaur, Antonio Perez-Aytes, Teresa Vendrell, Isabel Pinto, Encarna Guillen-Navarro, Antonio Gonzalez-Meneses, Yoko Aoki, Daniel Grinberg, Begona Ezquieta
MEDICINA CLINICA 144 (2) 67-72 2015年1月
出版者・発行元:ELSEVIER DOYMA SL
DOI:
10.1016/j.medcli.2014.06.009
ISSN:0025-7753
eISSN:1578-8989
-
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.
国際誌
査読有り
Shin-Ichi Inoue, Mitsuji Moriya, Yusuke Watanabe, Sachiko Miyagawa-Tomita, Tetsuya Niihori, Daiju Oba, Masao Ono, Shigeo Kure, Toshihiko Ogura, Yoichi Matsubara, Yoko Aoki
Human molecular genetics 23 (24) 6553-66 2014年12月15日
DOI:
10.1093/hmg/ddu376
-
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
国際誌
査読有り
Rumiko Izumi, Tetsuya Niihori, Naoki Suzuki, Yoji Sasahara, Takeshi Rikiishi, Ayumi Nishiyama, Shuhei Nishiyama, Kaoru Endo, Masaaki Kato, Hitoshi Warita, Hidehiko Konno, Toshiaki Takahashi, Maki Tateyama, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shigeo Kure, Yoichi Matsubara, Yoko Aoki, Masashi Aoki
Neuromuscular disorders : NMD 24 (12) 1068-72 2014年12月
DOI:
10.1016/j.nmd.2014.07.008
ISSN:0960-8966
-
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
査読有り
Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Simone Martinelli, Marion Strullu, Eyad K. Fansa, Aurelie Caye, Alessandro De Luca, Francesca Lepri, Radovan Dvorsky, Luca Pannone, Stefano Paolacci, Si-Cai Zhang, Valentina Fodale, Gianfranco Bocchinfuso, Cesare Rossi, Emma M. M. Burkitt-Wright, Andrea Farrotti, Emilia Stellacci, Serena Cecchetti, Rosangela Ferese, Lisabianca Bottero, Silvana Castro, Odile Fenneteau, Benoit Brethon, Massimo Sanchez, Amy E. Roberts, Helger G. Yntema, Ineke Van der Burgt, Paola Cianci, Marie-Louise Bondeson, Maria Cristina Digilio, Giuseppe Zampino, Bronwyn Kerr, Yoko Aoki, Mignon L. Loh, Antonio Palleschi, Elia Di Schiavi, Alessandra Care, Angelo Selicorni, Bruno Dallapiccola, Ion C. Cirstea, Lorenzo Stella, Martin Zenker, Bruce D. Gelb, Helene Cave, Mohammad R. Ahmadian, Marco Tartaglia
HUMAN MOLECULAR GENETICS 23 (16) 4315-4327 2014年8月
出版者・発行元:OXFORD UNIV PRESS
DOI:
10.1093/hmg/ddu148
ISSN:0964-6906
eISSN:1460-2083
-
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
査読有り
Dragneva, Sonya Szyszka-Niagolov, Monika Ivanova, Aneta Mateva, Lyudmila Izumi, Rumiko Aoki, Yoko Matsubara, Yoichi
JIMD Rep 2014年7月6日
DOI:
10.1007/8904_2014_320
-
Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing.
国際誌
査読有り
Masashi Ninomiya, Yasuteru Kondo, Tetsuya Niihori, Takeshi Nagashima, Takayuki Kogure, Eiji Kakazu, Osamu Kimura, Yoko Aoki, Yoichi Matsubara, Tooru Shimosegawa
Hepatology research : the official journal of the Japan Society of Hepatology 44 (6) 678-84 2014年6月
DOI:
10.1111/hepr.12168
-
Identification of a Novel Missense Mutation of MAF in a Japanese Family With Congenital Cataract by Whole Exome Sequencing: A Clinical Report and Review of Literature
査読有り
Yoko Narumi, Sachiko Nishina, Motoharu Tokimitsu, Yoko Aoki, Rika Kosaki, Keiko Wakui, Noriyuki Azuma, Toshinori Murata, Fumio Takada, Yoshimitsu Fukushima, Tomoki Kosho
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 164 (5) 1272-1276 2014年5月
出版者・発行元:WILEY-BLACKWELL
DOI:
10.1002/ajmg.a.36433
ISSN:1552-4825
eISSN:1552-4833
-
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation
査読有り
Naoki Fujimoto, Hiroshi Nakajima, Emiyo Sugiura, Kaoru Dohi, Shinji Kanemitsu, Norikazu Yamada, Yoko Aoki, Kaname Nakatani, Hideto Shimpo, Tsutomu Nobori, Masaaki Ito
INTERNATIONAL JOURNAL OF CARDIOLOGY 173 (3) E63-E66 2014年5月
出版者・発行元:ELSEVIER IRELAND LTD
DOI:
10.1016/j.ijcard.2014.03.135
ISSN:0167-5273
eISSN:1874-1754
-
Acute Lymphoblastic Leukemia Developing in a Patient With Noonan Syndrome Harboring a PTPN11 Germline Mutation
査読有り
Kenichi Sakamoto, Toshihiko Imamura, Daisuke Asai, Sachiko Goto-Kawashima, Hideki Yoshida, Atsushi Fujiki, Akiyo Furutani, Hiroyuki Ishida, Yoko Aoki, Hajime Hosoi
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY 36 (2) E136-E139 2014年3月
出版者・発行元:LIPPINCOTT WILLIAMS & WILKINS
DOI:
10.1097/MPH.0000000000000002
ISSN:1077-4114
eISSN:1536-3678
-
A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy.
国際誌
査読有り
Keisuke Wakusawa, Satoru Kobayashi, Yu Abe, Soichiro Tanaka, Wakaba Endo, Takehiko Inui, Mitsutosi Iwaki, Shuei Watanabe, Noriko Togashi, Takahiro Nara, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya
Brain & development 36 (1) 61-3 2014年1月
DOI:
10.1016/j.braindev.2012.12.007
-
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
国際誌
査読有り
Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, Masahiko Kawai, Takeshi Nagashima, Ryo Funayama, Keiko Nakayama, Shinichi Nakashima, Fumiko Kato, Maki Fukami, Yoko Aoki, Yoichi Matsubara
PloS one 9 (3) e91598-e91598 2014年
DOI:
10.1371/journal.pone.0091598
-
A Transient Myelodysplastic/Myeloproliferative Neoplasm in a Patient With Cardio-Facio-Cutaneous Syndrome and a Germline BRAF Mutation
査読有り
Kazuhito Sekiguchi, Tomoki Maeda, So-ichi Suenobu, Nobutaka Kunisaki, Miki Shimizu, Kyoko Kiyota, Yo-suke Handa, Kensuke Akiyoshi, Seigo Korematsu, Yoko Aoki, Yoichi Matsubara, Tatsuro Izumi
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 161 (10) 2600-2603 2013年10月
出版者・発行元:WILEY-BLACKWELL
DOI:
10.1002/ajmg.a.36107
ISSN:1552-4825
eISSN:1552-4833
-
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
国際誌
査読有り
Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-Ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara
American journal of human genetics 93 (1) 173-80 2013年7月11日
DOI:
10.1016/j.ajhg.2013.05.021
-
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
国際誌
査読有り
Rumiko Izumi, Tetsuya Niihori, Yoko Aoki, Naoki Suzuki, Masaaki Kato, Hitoshi Warita, Toshiaki Takahashi, Maki Tateyama, Takeshi Nagashima, Ryo Funayama, Koji Abe, Keiko Nakayama, Masashi Aoki, Yoichi Matsubara
Journal of human genetics 58 (5) 259-66 2013年5月
DOI:
10.1038/jhg.2013.9
-
Ras/MAPK syndromes and childhood hemato-oncological diseases
招待有り
査読有り
Yoko Aoki, Yoichi Matsubara
International Journal of Hematology 97 (1) 30-36 2013年1月
DOI:
10.1007/s12185-012-1239-y
ISSN:0925-5710 1865-3774
-
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene
査読有り
Masayuki Asano, Taku Fujimura, Chihiro Wakusawa, Yoko Aoki, Yoichi Matsubara, Setsuya Aiba
Acta Dermato-Venereologica 93 (1) 120-121 2013年
DOI:
10.2340/00015555-1399
ISSN:0001-5555 1651-2057
-
Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia.
国際誌
査読有り
Yuka Saito, Yoko Aoki, Hideki Muramatsu, Hideki Makishima, Jaroslaw P Maciejewski, Masue Imaizumi, Takeshi Rikiishi, Yoji Sasahara, Shigeo Kure, Tetsuya Niihori, Shigeru Tsuchiya, Seiji Kojima, Yoichi Matsubara
Leukemia research 36 (8) 1009-15 2012年8月
DOI:
10.1016/j.leukres.2012.04.018
-
Development of a Multi-Step Leukemogenesis Model of MLL-Rearranged Leukemia Using Humanized Mice
査読有り
Kunihiko Moriya, Makiko Suzuki, Yohei Watanabe, Takeshi Takahashi, Yoko Aoki, Toru Uchiyama, Satoru Kumaki, Yoji Sasahara, Masayoshi Minegishi, Shigeo Kure, Shigeru Tsuchiya, Kazuo Sugamura, Naoto Ishii
PLOS ONE 7 (6) e37892-e37892 2012年6月
出版者・発行元:PUBLIC LIBRARY SCIENCE
DOI:
10.1371/journal.pone.0037892
ISSN:1932-6203
-
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
国際誌
査読有り
Yu Abe, Yoko Aoki, Shinichi Kuriyama, Hiroshi Kawame, Nobuhiko Okamoto, Kenji Kurosawa, Hirofumi Ohashi, Seiji Mizuno, Tsutomu Ogata, Shigeo Kure, Tetsuya Niihori, Yoichi Matsubara
American journal of medical genetics. Part A 158A (5) 1083-94 2012年5月
DOI:
10.1002/ajmg.a.35292
-
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
国際誌
査読有り
Ayumi Narisawa, Shoko Komatsuzaki, Atsuo Kikuchi, Tetsuya Niihori, Yoko Aoki, Kazuko Fujiwara, Mitsuyo Tanemura, Akira Hata, Yoichi Suzuki, Caroline L Relton, James Grinham, Kit-Yi Leung, Darren Partridge, Alexis Robinson, Victoria Stone, Peter Gustavsson, Philip Stanier, Andrew J Copp, Nicholas D E Greene, Teiji Tominaga, Yoichi Matsubara, Shigeo Kure
Human molecular genetics 21 (7) 1496-503 2012年4月1日
DOI:
10.1093/hmg/ddr585
-
Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review
査読有り
Masao Adachi, Yu Abe, Yoko Aoki, Yoichi Matsubara
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 21 (1) 55-60 2012年1月
出版者・発行元:W B SAUNDERS CO LTD
DOI:
10.1016/j.seizure.2011.07.013
ISSN:1059-1311
-
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
国際誌
査読有り
Akira Ohtake, Yoko Aoki, Yuka Saito, Tetsuya Niihori, Atsushi Shibuya, Shigeo Kure, Yoichi Matsubara
Journal of pediatric hematology/oncology 33 (8) e342-6-6 2011年12月
DOI:
10.1097/MPH.0b013e3181df5e5b
-
Implantable Cardioverter Defibrillator for Progressive Hypertrophic Cardiomyopathy in a Patient With LEOPARD Syndrome and a Novel PTPN11 Mutation Gln510His
査読有り
Yasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, Satoshi Fuseya, Miki Horigome, Keiko Wakui, Yoshimitsu Fukushima, Yoichi Matsubara, Yoko Aoki, Tomoki Kosho
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A (10) 2529-2533 2011年10月
出版者・発行元:WILEY-BLACKWELL
DOI:
10.1002/ajmg.a.34194
ISSN:1552-4825
-
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
国際誌
査読有り
Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Kenji Kurosawa, Hirofumi Ohashi, Seiji Mizuno, Hiroshi Kawame, Johji Inazawa, Toshihiro Ohura, Hiroshi Arai, Shin Nabatame, Kiyoshi Kikuchi, Yoshikazu Kuroki, Masaru Miura, Toju Tanaka, Akira Ohtake, Isaku Omori, Kenji Ihara, Hiroyo Mabe, Kyoko Watanabe, Shinichi Niijima, Erika Okano, Hironao Numabe, Yoichi Matsubara
Journal of human genetics 56 (10) 707-15 2011年10月
DOI:
10.1038/jhg.2011.85
-
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.
国際誌
査読有り
Yoriko Watanabe, Shoji Yano, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Makoto Yoshino, Toyojiro Matsuishi
Brain & development 33 (7) 576-9 2011年8月
DOI:
10.1016/j.braindev.2010.10.006
-
5番染色体短腕部分欠失にマーカー染色体を伴う染色体異常が検出された一例
小林 朋子, 青木 洋子, 松田 直, 新堀 哲也, 土屋 滋, 松原 洋一
日本小児科学会雑誌 115 (2) 384-384 2011年2月
出版者・発行元:(公社)日本小児科学会
ISSN:0001-6543
-
Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
査読有り
Koichi Aizaki, Kenji Sugai, Yoshiaki Saito, Eiji Nakagawa, Masayuki Sasaki, Yoko Aoki, Yoichi Matsubara
BRAIN & DEVELOPMENT 33 (2) 166-169 2011年2月
出版者・発行元:ELSEVIER SCIENCE BV
DOI:
10.1016/j.braindev.2010.03.008
ISSN:0387-7604
-
Implications of Prenatal Diagnosis of the Fetus With Both Interstitial Deletion and a Small Marker Ring Originating From Chromosome 5
査読有り
Hiroyasu Ohashi, Kaoru Suzumori, Yasushi Chisaka, Shinichi Sonta, Tomoko Kobayashi, Yoko Aoki, Yoichi Matsubara, Michiko Sone, Lisa G. Shaffer
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A (1) 192-196 2011年1月
出版者・発行元:WILEY-LISS
DOI:
10.1002/ajmg.a.33764
ISSN:1552-4825
-
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
国際誌
査読有り
Fumiaki Kamada, Yoko Aoki, Ayumi Narisawa, Yu Abe, Shoko Komatsuzaki, Atsuo Kikuchi, Junko Kanno, Tetsuya Niihori, Masao Ono, Naoto Ishii, Yuji Owada, Miki Fujimura, Yoichi Mashimo, Yoichi Suzuki, Akira Hata, Shigeru Tsuchiya, Teiji Tominaga, Yoichi Matsubara, Shigeo Kure
Journal of human genetics 56 (1) 34-40 2011年1月
DOI:
10.1038/jhg.2010.132
-
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
国際誌
査読有り
Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, Nobuhiko Okamoto, Raoul C M Hennekam, Saskia Hopman, Hirofumi Ohashi, Seiji Mizuno, Yoriko Watanabe, Hotaka Kamasaki, Ikuko Kondo, Nobuko Moriyama, Kenji Kurosawa, Hiroshi Kawame, Ryuhei Okuyama, Masue Imaizumi, Takeshi Rikiishi, Shigeru Tsuchiya, Shigeo Kure, Yoichi Matsubara
Journal of human genetics 55 (12) 801-9 2010年12月
DOI:
10.1038/jhg.2010.116
-
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome
査読有り
Y. Shimaoka, T. Kosho, M. Wataya-Kaneda, M. Funakoshi, T. Suzuki, S. Hayashi, Y. Mitsuhashi, T. Isei, Y. Aoki, K. Yamazaki, M. Ono, K. Makino, T. Tanaka, E. Kunii, A. Hatamochi
BRITISH JOURNAL OF DERMATOLOGY 163 (4) 704-710 2010年10月
出版者・発行元:WILEY-BLACKWELL
DOI:
10.1111/j.1365-2133.2010.09874.x
ISSN:0007-0963
-
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
国際誌
査読有り
Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Hiroshi Kawame, Ikuma Fujiwara, Fumio Takada, Takako Ohata, Satoru Sakazume, Tatsuya Ando, Noriko Nakagawa, Pablo Lapunzina, Antonio G Meneses, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Kenji Kurosawa, Seiji Mizuno, Hirofumi Ohashi, Albert David, Nicole Philip, Afag Guliyeva, Yoko Narumi, Shigeo Kure, Shigeru Tsuchiya, Yoichi Matsubara
Human mutation 31 (3) 284-94 2010年3月
DOI:
10.1002/humu.21187
-
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
査読有り
Katherine A. Rauen, Lisa Schoyer, Frank McCormick, Angela E. Lin, Judith E. Allanson, David A. Stevenson, Karen W. Gripp, Giovanni Neri, John C. Carey, Eric Legius, Marco Tartaglia, Suzanne Schubbert, Amy E. Roberts, Bruce D. Gelb, Kevin Shannon, David H. Gutmann, Martin McMahon, Carmen Guerra, James A. Fagin, Benjamin Yu, Yoko Aoki, Benjamin G. Neel, Allan Balmain, Richard R. Drake, Garry P. Nolan, Martin Zenker, Gideon Bollag, Judith Sebolt-Leopold, Jackson B. Gibbs, Alcino J. Silva, E. Elizabeth Patton, David H. Viskochil, Mark W. Kieran, Bruce R. Korf, Randi J. Hagerman, Roger J. Packer, Teri Melese
American Journal of Medical Genetics, Part A 152 (1) 4-24 2010年1月
DOI:
10.1002/ajmg.a.33183
ISSN:1552-4825 1552-4833
-
23歳時の貧血精査で診断された、骨髄染色体45、X、末梢血染色体45、X/47、XXXを呈したTurner症候群の1例
菅野 潤子, 水城 弓絵, 斉藤 明子, 大野 忠行, 森本 哲司, 藤原 幾磨, 土屋 滋, 小松崎 匠子, 新堀 哲也, 青木 洋子, 松原 洋一
日本小児科学会雑誌 113 (9) 1445-1445 2009年9月
出版者・発行元:(公社)日本小児科学会
ISSN:0001-6543
-
Model mice for mild-form glycine encephalopathy: Behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor
査読有り
Kanako Kojima-Ishii, Shigeo Kure, Aktko Ichinohe, Toshikatsu Shinka, Ayumi Narisawa, Show Komatsuzaki, Junnko Kanno, Fumiaki Kamada, Yoko Aoki, Hiroyuki Yokoyama, Masaya Oda, Taku Sugawara, Kazuo Mizoi, Daiichiro Nakahara, Yoichi Matsubara
PEDIATRIC RESEARCH 64 (3) 228-233 2008年9月
出版者・発行元:INT PEDIATRIC RESEARCH FOUNDATION, INC
DOI:
10.1203/PDR.0b013e3181799562
ISSN:0031-3998
-
Association of the GABRB3 gene with nonsyndromic oral clefts
査読有り
Hiroki Inoue, Shuji Kayano, Yoko Aoki, Shigeo Kure, Atsushi Yamada, Akira Hata, Yoichi Matsubara, Yoichi Suzuki
CLEFT PALATE-CRANIOFACIAL JOURNAL 45 (3) 261-266 2008年5月
出版者・発行元:ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
DOI:
10.1597/06-142R1.1
ISSN:1055-6656
-
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
国際誌
査読有り
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Masahiro Sakurai, Hélène Cavé, Alain Verloes, Kimio Nishio, Hirofumi Ohashi, Kenji Kurosawa, Nobuhiko Okamoto, Hiroshi Kawame, Seiji Mizuno, Tatsuro Kondoh, Marie-Claude Addor, Anne Coeslier-Dieux, Catherine Vincent-Delorme, Koichi Tabayashi, Masashi Aoki, Tomoko Kobayashi, Afag Guliyeva, Shigeo Kure, Yoichi Matsubara
Journal of human genetics 53 (9) 834-41 2008年
DOI:
10.1007/s10038-008-0320-0
-
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
国際誌
査読有り
Caroline Nava, Nadine Hanna, Caroline Michot, Sabrina Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yoko Aoki, Yoichi Matsubara, Benoit Arveiler, Didier Lacombe, Eric Pasmant, Béatrice Parfait, Clarisse Baumann, Delphine Héron, Sabine Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloes, Hélène Cavé
Journal of medical genetics 44 (12) 763-71 2007年12月
DOI:
10.1136/jmg.2007.050450
eISSN:1468-6244
-
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
国際誌
査読有り
Kanno Junko, Kure Shigeo, Narisawa Ayumi, Kamada Fumiaki, Takayanagi Masaru, Yamamoto Katsuya, Hoshino Hisao, Goto Tomohide, Takahashi Takao, Haginoya Kazuhiro, Tsuchiya Shigeru, Baumeister Fritz A M, Hasegawa Yuki, Aoki Yoko, Yamaguchi Seiji, Matsubara Yoichi
Mol Genet Metab 91 (4) 384-389 2007年8月
DOI:
10.1016/j.ymgme.2007.02.010
ISSN:1096-7192
-
Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system
査読有り
Masaya Oda, Shigeo Kure, Taku Sugawara, Suguru Yamaguchi, Kanako Kojima, Toshikatsu Shinka, Kenichi Sato, Ayumi Narisawa, Yoko Aoki, Yoichi Matsubara, Tomoya Omae, Kazuo Mizoi, Hiroyuki Kinouchi
STROKE 38 (7) 2157-2164 2007年7月
出版者・発行元:LIPPINCOTT WILLIAMS & WILKINS
DOI:
10.1161/STROKEAHA.106.477026
ISSN:0039-2499
-
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
国際誌
査読有り
Yoshio Makita, Yoko Narumi, Makoto Yoshida, Tetsuya Niihori, Shigeo Kure, Kenji Fujieda, Yoichi Matsubara, Yoko Aoki
Journal of pediatric hematology/oncology 29 (5) 287-90 2007年5月
DOI:
10.1097/MPH.0b013e3180547136
ISSN:1077-4114
-
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
国際誌
査読有り
Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Giovanni Neri, Hélène Cavé, Alain Verloes, Caroline Nava, Maria Ines Kavamura, Nobuhiko Okamoto, Kenji Kurosawa, Raoul C M Hennekam, Louise C Wilson, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Pablo Lapunzina, Hirofumi Ohashi, Yoshio Makita, Ikuko Kondo, Shigeru Tsuchiya, Etsuro Ito, Kiyoko Sameshima, Kumi Kato, Shigeo Kure, Yoichi Matsubara
American journal of medical genetics. Part A 143A (8) 799-807 2007年4月15日
DOI:
10.1002/ajmg.a.31658
ISSN:1552-4825
-
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia
査読有り
Junko Kanno, Tim Hutchin, Fumiaki Kamada, Ayumi Narisawa, Yoko Aoki, Yoichi Matsubara, Shigeo Kure
JOURNAL OF MEDICAL GENETICS 44 (3) e69-e69 2007年3月
出版者・発行元:B M J PUBLISHING GROUP
DOI:
10.1136/jmg.2006.043448
ISSN:0022-2593
-
Rapid diagnosis of glycine encephalopathy by C-13-glycine breath test
査読有り
S Kure, SH Korman, J Kanno, A Narisawa, M Kubota, T Takayanagi, M Takayanagi, T Saito, A Matsui, F Kamada, Y Aoki, T Ohura, Y Matsubara
ANNALS OF NEUROLOGY 59 (5) 862-867 2006年5月
出版者・発行元:WILEY-LISS
DOI:
10.1002/ana.20853
ISSN:0364-5134
-
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
査読有り
S Kure, K Kato, A Dinopoulos, C Gail, TJ deGrauw, J Christodoulou, Bzduch, V, R Kalmanchey, G Fekete, A Trojovsky, B Plecko, G Breningstall, J Tohyama, Y Aoki, Y Matsubara
HUMAN MUTATION 27 (4) 343-352 2006年4月
出版者・発行元:WILEY-LISS
DOI:
10.1002/humu.20293
ISSN:1059-7794
-
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
国際誌
査読有り
Tetsuya Niihori, Yoko Aoki, Yoko Narumi, Giovanni Neri, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Raoul C M Hennekam, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Maria Ines Kavamura, Kenji Kurosawa, Hirofumi Ohashi, Louise Wilson, Delphine Heron, Dominique Bonneau, Giuseppina Corona, Tadashi Kaname, Kenji Naritomi, Clarisse Baumann, Naomichi Matsumoto, Kumi Kato, Shigeo Kure, Yoichi Matsubara
Nature genetics 38 (3) 294-6 2006年3月
DOI:
10.1038/ng1749
ISSN:1061-4036
-
HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
査読有り
KW Gripp, AE Lin, DL Stabley, L Nicholson, CI Scott, D Doyle, Y Aoki, Y Matsubara, EH Zackai, P Lapunzina, A Gonzalez-Meneses, J Holbrook, CA Agresta, IL Gonzalez, K Sol-Church
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 140A (1) 1-7 2006年1月
出版者・発行元:WILEY-LISS
DOI:
10.1002/ajmg.a.31047
ISSN:1552-4825
-
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
国際誌
査読有り
Fumiaki Kamada, Shigeo Kure, Takayuki Kudo, Yoichi Suzuki, Takeshi Oshima, Akiko Ichinohe, Kanako Kojima, Tetsuya Niihori, Junko Kanno, Yoko Narumi, Ayumi Narisawa, Kumi Kato, Yoko Aoki, Katsuhisa Ikeda, Toshimitsu Kobayashi, Yoichi Matsubara
Journal of human genetics 51 (5) 455-60 2006年
DOI:
10.1007/s10038-006-0384-7
ISSN:1434-5161
-
Adult Alexander's disease without leukoencephalopathy
査読有り
F Salvi, Y Aoki, R Della Nave, A Vella, F Pastorelli, C Scaglione, Y Matsubara, M Mascalchi
ANNALS OF NEUROLOGY 58 (5) 813-814 2005年11月
出版者・発行元:WILEY-LISS
DOI:
10.1002/ana.20634
ISSN:0364-5134
-
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
国際誌
査読有り
Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Yukichi Tanaka, Mirella Filocamo, Kumi Kato, Yoichi Suzuki, Shigeo Kure, Yoichi Matsubara
Nature genetics 37 (10) 1038-40 2005年10月
DOI:
10.1038/ng1641
ISSN:1061-4036
-
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
査読有り
T Niihori, Y Aoki, H Ohashi, K Kurosawa, T Kondoh, S Ishikiriyama, H Kawame, H Kamasaki, T Yamanaka, F Takada, K Nishio, M Sakurai, H Tamai, T Nagashima, Y Suzuki, S Kure, K Fujii, M Imaizumi, Y Matsubara
JOURNAL OF HUMAN GENETICS 50 (4) 192-202 2005年4月
出版者・発行元:SPRINGER TOKYO
DOI:
10.1007/s10038-005-0239-7
ISSN:1435-232X
-
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
国際誌
査読有り
Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi, Kenji Kurosawa, Tatsuro Kondoh, Satoshi Ishikiriyama, Hiroshi Kawame, Hotaka Kamasaki, Tsutomu Yamanaka, Fumio Takada, Kimio Nishio, Masahiro Sakurai, Hiroshi Tamai, Tatsuro Nagashima, Yoichi Suzuki, Shigeo Kure, Kunihiro Fujii, Masue Imaizumi, Yoichi Matsubara
Journal of human genetics 50 (4) 192-202 2005年
DOI:
10.1007/s10038-005-0239-7
ISSN:1434-5161
-
Association of the hCLCA1 gene with childhood and adult asthma
査読有り
F Kamada, Y Suzuki, C Shao, M Tamari, K Hasegawa, T Hirota, M Shimizu, N Takahashi, XQ Mao, S Doi, H Fujiwara, A Miyatake, K Fujita, Y Chiba, Y Aoki, S Kure, G Tamura, T Shirakawa, Y Matsubara
GENES AND IMMUNITY 5 (7) 540-547 2004年11月
出版者・発行元:NATURE PUBLISHING GROUP
DOI:
10.1038/sj.gene.6364124
ISSN:1466-4879
-
Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT).
査読有り
Kayano S, Suzuki Y, Kanno K, Aoki Y, Kure S, Yamada A, Matsubara Y
American journal of medical genetics. Part A 130A (1) 40-44 2004年9月
DOI:
10.1002/ajmg.a.30023
ISSN:1552-4825
-
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
査読有り
S Kure, K Sato, K Fujii, Y Aoki, Y Suzuki, S Kato, Y Matsubara
MOLECULAR GENETICS AND METABOLISM 83 (1-2) 150-156 2004年9月
出版者・発行元:ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI:
10.1016/j.ymgme.2004.06.016
ISSN:1096-7192
-
Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT)
査読有り
S Kayano, Y Suzuki, K Kanno, Y Aoki, S Kure, A Yamada, Y Matsubara
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 130A (1) 40-44 2004年9月
出版者・発行元:WILEY-LISS
DOI:
10.1002/ajmg.a.30023
ISSN:0148-7299
-
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B-12-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation
査読有り
Yang, X, O Sakamoto, Y Matsubara, S Kure, Y Suzuki, Y Aoki, Y Suzuki, N Sakura, M Takayanagi, K Iinuma, T Ohura
MOLECULAR GENETICS AND METABOLISM 82 (4) 329-333 2004年8月
出版者・発行元:ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI:
10.1016/j.ymgme.2004.05.002
ISSN:1096-7192
-
Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population
査読有り
Kiyoshi Kanno, Yoichi Suzuki, Atsushi Yamada, Yoko Aoki, Shigeo Kure, Yoichi Matsubara
American Journal of Medical Genetics 127 (1) 11-16 2004年5月15日
DOI:
10.1002/ajmg.a.20649
ISSN:1552-4825
-
Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population
査読有り
K Kanno, Y Suzuki, A Yamada, Y Aoki, S Kure, Y Matsubara
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 127A (1) 11-16 2004年5月
出版者・発行元:WILEY-LISS
DOI:
10.1002/ajmg.a.20649
ISSN:0148-7299
-
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R
査読有り
K Kojima, S Kure, F Kamada, K Hao, A Ichinohe, K Sato, Y Aoki, S Yoichi, M Kubota, R Horikawa, A Utsumi, M Miura, S Ogawa, M Kanazawa, Y Kohno, M Inokuchi, T Hasegawa, K Narisawa, Y Matsubara
MOLECULAR GENETICS AND METABOLISM 81 (4) 343-346 2004年4月
出版者・発行元:ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI:
10.1016/j.ymgme.2003.12.004
ISSN:1096-7192
-
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
査読有り
Yang, X, O Sakamoto, Y Matsubara, S Kure, Y Suzuki, Y Aoki, S Yamaguchi, Y Takahashi, T Nishikubo, C Kawaguchi, A Yoshioka, T Kimura, K Hayasaka, Y Kohno, K Iinuma, T Ohura
MOLECULAR GENETICS AND METABOLISM 81 (4) 335-342 2004年4月
出版者・発行元:ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI:
10.1016/j.ymgme.2004.01.003
ISSN:1096-7192
-
Linkage and association of childhood asthma with the chromosome 12 genes
査読有り
CC Shao, Y Suzuki, F Kamada, K Kanno, M Tamari, K Hasegawa, Y Aoki, S Kure, Yang, X, H Endo, R Takayanagi, C Nakazawa, T Morikawa, M Morikawa, S Miyabayashi, Y Chiba, M Karahashi, S Saito, G Tamura, T Shirakawa, Y Matsubara
JOURNAL OF HUMAN GENETICS 49 (3) 115-122 2004年3月
出版者・発行元:SPRINGER-VERLAG TOKYO
DOI:
10.1007/s10038-003-0118-z
ISSN:1435-232X
-
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
査読有り
S Kayano, S Kure, Y Suzuki, K Kanno, Y Aoki, S Kondo, BC Schutte, JC Murray, A Yamada, Y Matsubara
JOURNAL OF HUMAN GENETICS 48 (12) 622-628 2003年12月
出版者・発行元:SPRINGER-VERLAG TOKYO
DOI:
10.1007/s10038-003-0089-0
ISSN:1435-232X
-
Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report
査読有り
T Kondoh, E Ishii, Y Aoki, T Shimizu, M Zaitsu, Y Matsubara, H Moriuchi
EUROPEAN JOURNAL OF PEDIATRICS 162 (7-8) 548-549 2003年7月
出版者・発行元:SPRINGER-VERLAG
DOI:
10.1007/s00431-003-1227-6
ISSN:0340-6199
-
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects
査読有り
R Santer, H Muhle, T Suormala, ER Baumgartner, M Duran, Yang, X, Y Aoki, Y Suzuki, U Stephani
MOLECULAR GENETICS AND METABOLISM 79 (3) 160-166 2003年7月
出版者・発行元:ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI:
10.1016/S1096-7192(03)00091-X
ISSN:1096-7192
-
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
査読有り
T Kudo, S Kure, K Ikeda, AP Xia, Y Katori, M Suzuki, K Kojima, A Ichinohe, Y Suzuki, Y Aoki, T Kobayashi, Y Matsubara
HUMAN MOLECULAR GENETICS 12 (9) 995-1004 2003年5月
出版者・発行元:OXFORD UNIV PRESS
DOI:
10.1093/hmg/ddg116
ISSN:0964-6906
-
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease
査読有り
M Namekawa, Y Takiyama, Y Aoki, N Takayashiki, K Sakoe, H Shimazaki, T Taguchi, Y Tanaka, M Nishizawa, K Saito, Y Matsubara, Nakano, I
ANNALS OF NEUROLOGY 52 (6) 779-785 2002年12月
出版者・発行元:WILEY-LISS
DOI:
10.1002/ana.10375
ISSN:0364-5134
-
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
査読有り
S Kure, K Kojima, A Ichinohe, T Maeda, R Kalmanchey, G Fekete, SZ Berg, J Filiano, Y Aoki, Y Suzuki, T Izumi, Y Matsubara
ANNALS OF NEUROLOGY 52 (5) 643-646 2002年11月
出版者・発行元:WILEY-BLACKWELL
DOI:
10.1002/ana.10367
ISSN:0364-5134
-
Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
査読有り
K Kanno, Y Suzuki, XM Yang, A Yamada, Y Aoki, S Kure, Y Matsubara
JOURNAL OF HUMAN GENETICS 47 (6) 269-274 2002年
出版者・発行元:SPRINGER-VERLAG TOKYO
DOI:
10.1007/s100380200038
ISSN:1434-5161
-
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
査読有り
Yang, X, Y Aoki, Li, X, O Sakamoto, M Hiratsuka, S Kure, S Taheri, E Christensen, K Inui, M Kubota, M Ohira, M Ohki, J Kudoh, K Kawasaki, K Shibuya, A Shintani, S Asakawa, S Minoshima, N Shimizu, K Narisawa, Y Matsubara, Y Suzuki
HUMAN GENETICS 109 (5) 526-534 2001年11月
出版者・発行元:SPRINGER-VERLAG
DOI:
10.1007/s004390100603
ISSN:0340-6717
-
Structure and expression of the glycine cleavage system in rat central nervous system
査読有り
Y Sakata, Y Owada, K Sato, K Kojima, K Hisanaga, T Shinka, Y Suzuki, Y Aoki, J Satoh, H Kondo, Y Matsubara, S Kure
MOLECULAR BRAIN RESEARCH 94 (1-2) 119-130 2001年10月
出版者・発行元:ELSEVIER SCIENCE BV
DOI:
10.1016/S0169-328X(01)00225-X
ISSN:0169-328X
-
A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease
査読有り
Y Aoki, K Haginoya, M Munakata, H Yokoyama, T Nishio, N Togashi, T Ito, Y Suzuki, S Kure, K Iinuma, M Brenner, Y Matsubara
NEUROSCIENCE LETTERS 312 (2) 71-74 2001年10月
出版者・発行元:ELSEVIER SCI IRELAND LTD
DOI:
10.1016/S0304-3940(01)02139-5
ISSN:0304-3940
-
Fatal Propionic Acidemia in Mice Lacking Propionyl-CoA Carboxylase and Its Rescue by Postnatal, Liver-specific Supplementation via a Transgene
査読有り
Toru Miyazaki, Toshihiro Ohura, Makio Kobayashi, Yosuke Shigematsu, Seiji Yamaguchi, Yoichi Suzuki, Ikue Hata, Yoko Aoki, Xue Yang, Christina Minjares, Ikuko Haruta, Hirofumi Uto, Yuriko Ito, Urs Müller
Journal of Biological Chemistry 276 (38) 35995-35999 2001年9月21日
DOI:
10.1074/jbc.M105467200
ISSN:0021-9258
-
Overexpression of p27(Kip1) lengthens the G(1) phase in a mouse model that targets inducible gene expression to central nervous system progenitor cells
査読有り
T Mitsuhashi, Y Aoki, YZ Eksioglu, T Takahashi, PG Bhide, SA Reeves, VS Caviness
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 98 (11) 6435-6440 2001年5月
出版者・発行元:NATL ACAD SCIENCES
DOI:
10.1073/pnas.111051398
ISSN:0027-8424
-
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
査読有り
S Kure, K Kojima, T Kudo, K Kanno, Y Aoki, Y Suzuki, T Shinka, Y Sakata, K Narisawa, Y Matsubara
JOURNAL OF HUMAN GENETICS 46 (7) 378-384 2001年
出版者・発行元:SPRINGER-VERLAG TOKYO
DOI:
10.1007/s100380170057
ISSN:1434-5161
-
Increased susceptibility to ischemia-induced brain damage in transgenic mice overexpressing a dominant negative form of SHP2
査読有り
Y Aoki, ZH Huang, SS Thomas, PG Bhide, Huang, I, MA Moskowitz, SA Reeves
FASEB JOURNAL 14 (13) 1965-1973 2000年10月
出版者・発行元:FEDERATION AMER SOC EXP BIOL
DOI:
10.1096/fj.00-0105com
ISSN:0892-6638
-
Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia
査読有り
K Takahashi, J Akanuma, Y Matsubara, K Fujii, S Kure, Y Suzuki, K Wataya, O Sakamoto, Y Aoki, M Ogasawara, T Ohura, S Miyabayashi, K Narisawa
AMERICAN JOURNAL OF MEDICAL GENETICS 92 (2) 90-94 2000年5月
出版者・発行元:WILEY-LISS
DOI:
10.1002/(SICI)1096-8628(20000515)92:2<90::AID-AJMG2>3.0.CO;2-H
ISSN:0148-7299
-
Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency
査読有り
O Sakamoto, Y Suzuki, Li, X, Y Aoki, M Hiratsuka, E Holme, J Kudoh, N Shimizu, K Narisawa
EUROPEAN JOURNAL OF PEDIATRICS 159 (1-2) 18-22 2000年1月
出版者・発行元:SPRINGER VERLAG
ISSN:0340-6199
-
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
査読有り
Yang, X, Y Aoki, Li, X, O Sakamoto, M Hiratsuka, KM Gibson, S Kure, K Narisawa, Y Matsubara, Y Suzuki
JOURNAL OF HUMAN GENETICS 45 (6) 358-362 2000年
出版者・発行元:SPRINGER-VERLAG TOKYO
DOI:
10.1007/s100380070008
ISSN:1434-5161
-
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency
査読有り
O Sakamoto, Y Suzuki, Li, X, Y Aoki, M Hiratsuka, T Suormala, ER Baumgartner, KM Gibson, K Narisawa
PEDIATRIC RESEARCH 46 (6) 671-676 1999年12月
出版者・発行元:INT PEDIATRIC RESEARCH FOUNDATION, INC
ISSN:0031-3998
-
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency
査読有り
Y Aoki, Li, X, O Sakamoto, M Hiratsuka, H Akaishi, LQ Xu, P Briones, T Suormala, ER Baumgartner, Y Suzuki, K Narisawa
HUMAN GENETICS 104 (2) 143-148 1999年2月
出版者・発行元:SPRINGER VERLAG
DOI:
10.1007/s004390050927
ISSN:0340-6717
-
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency
査読有り
O Sakamoto, Y Suzuki, Y Aoki, Li, X, M Hiratsuka, K Yanagihara, K Inui, T Okabe, S Yamaguchi, J Kudoh, N Shimizu, K Narisawa
JOURNAL OF INHERITED METABOLIC DISEASE 21 (8) 873-874 1998年12月
出版者・発行元:KLUWER ACADEMIC PUBL
DOI:
10.1023/A:1005435121933
ISSN:0141-8955
-
Identification of holocarboxylase synthetase (HCS) proteins in human placenta
査読有り
M Hiratsuka, O Sakamoto, Li, X, Y Suzuki, Y Aoki, K Narisawa
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY 1385 (1) 165-171 1998年6月
出版者・発行元:ELSEVIER SCIENCE BV
DOI:
10.1016/S0167-4838(98)00032-6
ISSN:0167-4838
-
Coordinate regulation of STAT signaling and c-fos expression by the tyrosine phosphatase SHP-2
査読有り
T Servidei, Y Aoki, SE Lewis, A Symes, JS Fink, SA Reeves
JOURNAL OF BIOLOGICAL CHEMISTRY 273 (11) 6233-6241 1998年3月
出版者・発行元:AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
DOI:
10.1074/jbc.273.11.6233
ISSN:0021-9258
-
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes
査読有り
K Wataya, J Akanuma, P Cavadini, Y Aoki, S Kure, F Invernizzi, Yoshida, I, J Kira, F Taroni, Y Matsubara, K Narisawa
HUMAN MUTATION 11 (5) 377-386 1998年
出版者・発行元:WILEY-LISS
DOI:
10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E
ISSN:1059-7794
-
Characterization of mutant holocarboxylase synthetase (HCS): A K-m for biotin was not elevated in a patient with HCS deficiency
査読有り
Y Aoki, Y Suzuki, Li, X, O Sakamoto, H Chikaoka, S Takita, K Narisawa
PEDIATRIC RESEARCH 42 (6) 849-854 1997年12月
出版者・発行元:WILLIAMS & WILKINS
ISSN:0031-3998
-
Dinucleotide repeat polymorphism in 65k-Glutamate decarboxylase gene
査読有り
S Kure, Y Aoki, T Shinka, Y Sakata, Y Matsubara, K Narisawa
JAPANESE JOURNAL OF HUMAN GENETICS 42 (3) 429-431 1997年9月
出版者・発行元:TOKYO MEDICAL DENTAL UNIV
ISSN:0916-8478
-
Molecular analyses of Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS)
Masashi Aoki, Koji Abe, Masahito Ogasawara, Yoko Aoki, Yoichi Matsubara, Kuniaki Narisawa, Mitsunori Watanabe, Masaki Ikeda, Kouji Houi, Soichiro Mocfflo, Katsuro Kurokawa, Takeo Kato, Hideo Sasaki, Ryo Sakuma, Takeshi Kameya, Shyozo Nakamura, Yasuto Itoyama
Japanese Journal of Human Genetics 41 28 1996年12月1日
ISSN:0916-8478
-
Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate
査読有り
Y Suzuki, Y Aoki, O Sakamoto, Li, X, S Miyabayashi, Y Kazuta, H Kondo, K Narisawa
CLINICA CHIMICA ACTA 251 (1) 41-52 1996年7月
出版者・発行元:ELSEVIER SCIENCE BV
DOI:
10.1016/0009-8981(96)06291-2
ISSN:0009-8981
-
Molecular analysis of holocarboxylase synthetase deficiency: A missense mutation and a single base deletion are predominant in Japanese patients
査読有り
Y Aoki, Y Suzuki, O Sakamoto, Li, X, K Takahashi, A Ohtake, R Sakuta, T Ohura, S Miyabayashi, K Narisawa
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 1272 (3) 168-174 1995年12月
出版者・発行元:ELSEVIER SCIENCE BV
ISSN:0925-4439
-
ISOLATION AND CHARACTERIZATION OF MUTATIONS IN THE HUMAN HOLOCARBOXYLASE SYNTHETASE CDNA
査読有り
Y SUZUKI, Y AOKI, Y ISHIDA, Y CHIBA, A IWAMATSU, T KISHINO, N NIIKAWA, Y MATSUBARA, K NARISAWA
NATURE GENETICS 8 (2) 122-128 1994年10月
出版者・発行元:NATURE PUBLISHING CO
DOI:
10.1038/ng1094-122
ISSN:1061-4036
-
PURIFICATION AND PROPERTIES OF BOVINE LIVER HOLOCARBOXYLASE SYNTHETASE
査読有り
Y CHIBA, Y SUZUKI, Y AOKI, Y ISHIDA, K NARISAWA
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS 313 (1) 8-14 1994年8月
出版者・発行元:ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS
DOI:
10.1006/abbi.1994.1351
ISSN:0003-9861