SAKAI YASUNARI 酒井康成

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SAKAI Yasunari 酒井康成

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Researcher Number	10380396
Other IDs	https://orcid.org/0000-0002-5747-8692
Affiliation (Current)	2025: 九州大学, 医学研究院, 准教授
Affiliation (based on the past Project Information) *help	2017 – 2023: 九州大学, 医学研究院, 准教授 2017: 九州大学, 大学病院, 准教授 2017: 九州大学, 大学病院, 助手 2011 – 2016: 九州大学, 大学病院, 講師 2014: 九州大学, 大学病院, 診療准教授 2005: 九州大学, 病院・助手 2005: Kyushu University, Department of Pediatrics, Research Associate, 大学病院, 助手
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Neurochemistry/Neuropharmacology / Medical genome science Except Principal Investigator Pediatrics / Basic Section 58010:Medical management and medical sociology-related / Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 58020:Hygiene and public health-related: including laboratory approach / Medium-sized Section 52:General internal medicine and related fields / Medical sociology
Keywords	Principal Investigator タンパク質複合体 / 分子シグナル / 自閉症 / 遺伝子発現 / 多様性 / 脱髄 / CD14 / 個人差 / 不均一性 / ミトコンドリア … More / 自然免疫 / ミクログリア / 治療モデル / てんかん性脳症 / 治療標的 / iPS / オルガノイド / 極性 / SPTAN1 / 細胞骨格 / 発達性てんかん性脳症 / GNAO1 / ラパマイシン / mTOR / 神経分化 / 皮質形成異常 / 海馬歯状回 / AKT-mTOR / Crh-ACTH軸 / PI3K-AKT-mTOR / 分子経路 / Pomc / Crh-POMC(ACTH) / ノックアウトマウス / 海馬 / 治療 / PI3-AKT-mTOR経路 / てんかん / Pten / 発達 / タンパク質相互作用 / 細胞内局在 / 神経成熟 / FMR1 / 神経軸索 / 発達遅滞 / 脳 / FMRP / 複合体 / DEAF1 / 精神遅滞 / 遺伝子コピー数変異(CNV) / マイクロアレイCGH / 相互作用ネットワーク … More Except Principal Investigator 急性脳炎 / 小児 / 自閉スペクトラム症 / 遺伝子多型 / T-bet / CXCL7 / iPS細胞 / 急性脳症 / 子ども / 医師・家族関係 / 代理意思決定 / 家族 / 医療者 / 対話 / 協働意思決定 / 視床・感覚路形成 / オルガノイド / 皮質視床路 / Autism spectrum disorder / 視床皮質路 / てんかん / 感覚過敏 / Shank3 / autism spectrum disorder / 自己抗体 / 小児脳炎 / 疫学調査 / 中枢性脱髄性疾患 / 抗MOG抗体 / 脂質代謝 / 中枢脱髄性疾患 / 自己免疫性脳炎 / トランスレーショナルリサーチ / 気分障害 / 統合失調症 / 直接誘導ミクログリア様細胞（iMG） / 直接誘導ニューロン（iN） / iPS技術 / 再生医学 / 直接誘導ミクログリア様細胞 / 直接誘導ニューロン / ミクログリア / 小児循環器学 / 臨床医学 / 次世代シーケンサー / エクソーム解析 / 先天性門脈体循環シャント / 肺高血圧 / 全エクソーム解析 / 先天性門脈体循環短絡症 / 質的研究 / 構造化 / 質的解析 / 小児科医の葛藤 / 倫理教育 / プロフェッショナリズム / 方針決定 / 生命維持治療 / 医学教育 / 意思決定 / 葛藤 / 小児科医 / Gene polymorphism / Host factor / Multiple sclerosis / Acute encephalitis / Acute disseminated encephalomyelitis / 宿主因子 / 多発性硬化症 / 急性散在性脳脊髄炎 / Neuroimaging / Memory / Cognitive function / Polymorphism / Laterality / Brain / グルタミン酸受容体 / 遺伝子発現 / 脳機能画像 / 記憶 / 脳機能 / 左右差 / 脳 / dendritic cell / Sendai virus vector / osteopontin / Mycobacterium / macrophage / intracellular bacteria / 結核感染マウスモデル / 細胞遺伝子療法 / IFN-γ / 細胞免疫療法 / 結核 / 樹状細胞 / センダイウイルスベクター / Osteopontin / 結核菌 / マクロファージ / 細胞内寄生性細菌 / エキソーム解析 / SSPE / プロテオミクス / 小児科 / 質量分析 / バイオマーカー / 核移行シグナル / 修飾オリゴヌクレオチド / スプライシング / 核内移行シグナル / 遺伝子修復 / ナノ粒子 Less

不均一かつ多様なミクログリア構成にもとづく脱髄性疾患の新規治療点の解明Principal Investigator
- Principal Investigator
  
  酒井康成
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kyushu University
Shank3欠損マウスと患児オルガノイドを用いた視床・感覚路発達メカニズムの解析
- Principal Investigator
  
  奥園清香
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Fukuoka Dental College
  Kyushu University
子どものいのちに関わる協働意思決定の実態調査研究～小児科医と家族の対話の構造化～
- Principal Investigator
  
  笹月桃子
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 58010:Medical management and medical sociology-related
- Research Institution
  Seinan Jo Gakuin University
A study for convergent molecular mechanisms underlying epileptic encephalopathy using cortical organoidsPrincipal Investigator
- Principal Investigator
  
  Sakai Yasunari
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kyushu University
Detection of autoantibody in pediatric encephalitis
- Principal Investigator
  
  Chong Pin Fee
- Project Period (FY)
  2019 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 58020:Hygiene and public health-related: including laboratory approach
- Research Institution
  Kyushu University
  Fukuoka Children’s Hospital
Clarifying the underlying pathophysiology of neuropsychiatric disorders using human-tissues-directly-derived neuronal/glial cells: Reverse-Translational Study.
- Principal Investigator
  
  Kato Takahiro
- Project Period (FY)
  2018 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Kyushu University
Identification of novel genes responsible for congenital portosystemic venous shunt
- Principal Investigator
  
  Ishii Kanako
- Project Period (FY)
  2017 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kyushu University
Structure of pediatricians' decision making and their dilemmas. A qualitative study.
- Principal Investigator
  
  Toda Naoko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Medical sociology
- Research Institution
  Kyushu University
Development of a new translational medicine for epilepsy using the Pten-mutant micePrincipal Investigator
- Principal Investigator
  
  Sakai Yasunari
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kyushu University
Comprehensive pathological analysis of SSPE using exome analysis and patients iPSC-derived neurons.
- Principal Investigator
  
  Ishizaki Yoshito
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kyushu University
Postnatal brain development regulated by intellectual disability-associated protein complexPrincipal Investigator
- Principal Investigator
  
  SAKAI YASUNARI
- Project Period (FY)
  2012 – 2014
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Neurochemistry/Neuropharmacology
- Research Institution
  Kyushu University
Research of pathology-specific biomarkers for virus-related encephalopathy
- Principal Investigator
  
  TORISU HIROYUKI
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kyushu University
日本人自閉症児に見られる新規染色体コピー数変異の探索Principal Investigator
- Principal Investigator
  
  酒井康成
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Medical genome science
- Research Institution
  Kyushu University
The molecular genetic analyses of acute disseminated encephalomyelitus
- Principal Investigator
  
  TORISU Hiroyuki
- Project Period (FY)
  2005 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kyushu University
ナノ粒子を用いた遺伝子治療法の開発
- Principal Investigator
  
  HARA Toshiro
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Kyushu University
Developmental mechanisms of higher cognitive functions: comprehensive analyses of genes involved in hemispheric laterality
- Principal Investigator
  
  KIRA Ryutaro
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  KYUSHU UNIVERCITY
Analysis of host responses to intracellular bacteria and development of cell-mediated gene therapy
- Principal Investigator
  
  HARA Toshiro
- Project Period (FY)
  2003 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  KYUSHU UNIVERSITY

[Book] Clarifying the Pathophysiological Mechanisms of Neuronal Abnormalities of NF1 by Induced-Neuronal (iN) Cells from Human Fibroblasts2021
- Author(s)
  Sagata N, Sakai Y, Kato TA
- Total Pages
  142
- Publisher
  Intech Open, London, UK,
- Data Source
  KAKENHI-PROJECT-18H04042
[Journal Article] Divergent neurodevelopmental profiles of very-low-birth-weight infants2024
- Author(s)
  Ogata R, Watanabe K, Chong PF, Okamoto J, Sakemi Y, Nakashima T, Ohno T, Nomiyama H, Sonoda Y, Ichimiya Y, Inoue H, Ochiai M, Yamashita H, Sakai Y, Ohga S.
- Journal Title
  
  Pediatr Res
  
  Volume: 95 Issue: 1 Pages: 233-240
- DOI
  10.1038/s41390-023-02778-w
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07893, KAKENHI-PROJECT-22K07916, KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-18K15677
[Journal Article] Persistent intracranial hyper-inflammation in ruptured cerebral aneurysm after COVID-19: case report and review of the literature2024
- Author(s)
  Chong PF, Higashi K, Matsuoka W, Arimura K, Sangatsuda Y, Iwaki K, Sonoda Y, Ichimiya Y, Kamori A, Kawakami A, Mizuguchi S, Kaku N, Sakai Y, Ohga S.
- Journal Title
  
  BMC Neurol
  
  Volume: 2 Issue: 1 Pages: 17-17
- DOI
  10.1186/s12883-023-03493-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07893, KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-18K15677
[Journal Article] The Etiology and Outcome of Area Postrema Syndrome in Childhood: Two Cases and a Literature Review2024
- Author(s)
  Tomari Y, Igata Y, Chong PF, Kajiwara K, Hatai E, Sonoda Y, Oba U, Kaku N, Koga Y, Sakai Y, Ohga S.
- Journal Title
  
  Pediatr Neurol
  
  Volume: 152 Pages: 11-15
- DOI
  10.1016/j.pediatrneurol.2023.12.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07893, KAKENHI-PROJECT-23K07334, KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-18K15677
[Journal Article] Shank3a/b isoforms regulate the susceptibility to seizures and thalamocortical development in the early postnatal period of mice2023
- Author(s)
  Okuzono Sayaka、Fujii Fumihiko、Matsushita Yuki、Setoyama Daiki、Shinmyo Yohei、Taira Ryoji、Yonemoto Kousuke、Akamine Satoshi、Motomura Yoshitomo、Sanefuji Masafumi、Sakurai Takeshi、Kawasaki Hiroshi、Han Kihoon、Kato Takahiro A.、Torisu Hiroyuki、Kang Dongchon、Nakabeppu Yusaku、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Neuroscience Research
  
  Volume: in press Pages: 13-19
- DOI
  10.1016/j.neures.2023.03.001
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08182, KAKENHI-PUBLICLY-20H05056, KAKENHI-PROJECT-21K07865, KAKENHI-PROJECT-21K19306, KAKENHI-PROJECT-21K19307, KAKENHI-PROJECT-20H03338, KAKENHI-PROJECT-20H03351, KAKENHI-PUBLICLY-23H04156, KAKENHI-PROJECT-23K27277
[Journal Article] Long-lasting pain and somatosensory disturbances in children with myelin oligodendrocyte glycoprotein antibody-associated disease2023
- Author(s)
  Ichimiya Yuko、Chong Pin Fee、Sonoda Yuri、Tocan Vlad、Watanabe Mitsuru、Torisu Hiroyuki、Kira Ryutaro、Takahashi Toshiyuki、Kira Jun-Ichi、Isobe Noriko、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  European Journal of Pediatrics
  
  Volume: 182 Issue: 7 Pages: 3175-3185
- DOI
  10.1007/s00431-023-04989-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K18266, KAKENHI-PROJECT-22K07893, KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-18K15677
[Journal Article] Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia2021
- Author(s)
  Xiao Sun, Hiroki Kato, Hiroshi Sato, Michiko Torio, Xu Han, Yu Zhang, Yuta Hirofuji, Takahiro A. Kato, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda
- Journal Title
  
  Biochem Biophys Rep.
  
  Volume: 26 Pages: 00-00
- DOI
  10.1016/j.bbrep.2021.100968
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K10387, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-21K17163
[Journal Article] Paroxysmal sympathetic hyperactivity and the later development of epilepsy in a chemotherapy-associated brain damage2021
- Author(s)
  Taira Ryoji、Yamamura Kenichiro、Maeda Tomoko、Sakata Ayumi、Watanabe Eriko、Shimogawa Takafumi、Mukae Nobutaka、Ikeda Chizuru、Migita Masahiro、Watanabe Osamu、Koga Yuhki、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Brain and Development
  
  Volume: 43 Issue: 10 Pages: 1044-1050
- DOI
  10.1016/j.braindev.2021.07.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08281
[Journal Article] Assessment of Pediatric Admissions for Kawasaki Disease or Infectious Disease During the COVID-19 State of Emergency in Japan2021
- Author(s)
  Hara Takuya、Furuno Kenji、Yamamura Kenichiro、Kishimoto Junji、Mizuno Yumi、Murata Kenji、Onoyama Sagano、Hatae Ken、Takemoto Megumi、Ishizaki Yoshito、Kanno Shunsuke、Sato Kazuo、Motomura Yoshitomo、Sakai Yasunari、Ohga Shouichi、Yashiro Mayumi、Nakamura Yoshikazu、Hara Toshiro
- Journal Title
  
  JAMA Network Open
  
  Volume: 4 Issue: 4 Pages: e214475-e214475
- DOI
  10.1001/jamanetworkopen.2021.4475
- Data Source
  KAKENHI-PROJECT-19K08281
[Journal Article] Predictive values of early head computed tomography for survival outcome after cardiac arrest in childhood: a pilot study2021
- Author(s)
  Tetsuhara Kenichi、Kaku Noriyuki、Watanabe Yuka、Kumamoto Masaya、Ichimiya Yuko、Mizuguchi Soichi、Higashi Kanako、Matsuoka Wakato、Motomura Yoshitomo、Sanefuji Masafumi、Hiwatashi Akio、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Scientific Reports
  
  Volume: 11 Issue: 1 Pages: 12090-12090
- DOI
  10.1038/s41598-021-91628-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20K08182, KAKENHI-PROJECT-20K10832
[Journal Article] Acute-phase electroencephalography for an infantile atypical teratoid/rhabdoid tumor2021
- Author(s)
  Ichimiya Yuko、Mizuguchi Soichi、Motomura Yoshitomo、Koga Yuhki、Kaku Noriyuki、Hata Nobuhiro、Yoshimoto Koji、Sakata Ayumi、Suzuki Satoshi O.、Iwaki Toru、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Clinical Neurology and Neurosurgery
  
  Volume: 209 Pages: 106922-106922
- DOI
  10.1016/j.clineuro.2021.106922
- Data Source
  KAKENHI-PROJECT-19K08281
[Journal Article] Vitamin A deficiency?associated corneal perforation in a boy with autism spectrum disorder: A case report and literature review2021
- Author(s)
  Adachi Shunichi、Torio Michiko、Okuzono Sayaka、Motomura Yoshitomo、Ichimiya Yuko、Sonoda Yuri、Nagata Jyunya、Okamoto Misato、Notomi Shoji、Sanefuji Masafumi、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Nutrition
  
  Volume: 90 Pages: 111275-111275
- DOI
  10.1016/j.nut.2021.111275
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20K08182, KAKENHI-PROJECT-18K15677
[Journal Article] Favorable outcomes of interferon-α and ribavirin treatment for a male with subacute sclerosing panencephalitis2021
- Author(s)
  Sonoda Yuri、Sonoda Motoshi、Yonemoto Kousuke、Sanefuji Masafumi、Taira Ryoji、Motomura Yoshitomo、Ishimura Masataka、Torisu Hiroyuki、Kira Ryutaro、Kusuhara Koichi、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Journal of Neuroimmunology
  
  Volume: 358 Pages: 577656-577656
- DOI
  10.1016/j.jneuroim.2021.577656
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20K08182, KAKENHI-PROJECT-18K15677
[Journal Article] Translational pediatrics: clinical perspective for Phelan?McDermid syndrome and autism research2021
- Author(s)
  Sakai Yasunari、Okuzono Sayaka、Schaaf Christian P.、Ohga Shouichi
- Journal Title
  
  Pediatric Research
  
  Volume: 91 Issue: 2 Pages: 00-00
- DOI
  10.1038/s41390-021-01806-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-21K07865
[Journal Article] De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.2020
- Author(s)
  Kinoshita K, Ishizaki Y, Yamamoto H, Sonoda M, Yonemoto K, Kira R, Sanefuji M, Ueda A, Matsui H, Ando Y, Sakai Y, Ohga S.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 63 Issue: 4 Pages: 103825-103825
- DOI
  10.1016/j.ejmg.2019.103825
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-18K07821, KAKENHI-PROJECT-18K08334, KAKENHI-PROJECT-19H03565
[Journal Article] Forskolin rapidly enhances neuron‐like morphological change of directly induced‐neuronal cells from neurofibromatosis type 1 patients2020
- Author(s)
  Sagata N
- Journal Title
  
  Neuropsychopharmacology Reports
  
  Volume: 40 Issue: 4 Pages: 396-400
- DOI
  10.1002/npr2.12144
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-ORGANIZER-16H06400, KAKENHI-PLANNED-16H06403, KAKENHI-PROJECT-18H04042
[Journal Article] Neurodevelopmental outcomes of high-risk preterm infants: A prospective study in Japan2020
- Author(s)
  Torio Michiko、Iwayama Mariko、Sawano Toru、Inoue Hirosuke、Ochiai Masayuki、Taira Ryoji、Yonemoto Kousuke、Ichimiya Yuko、Sonoda Yuri、Sasazuki Momoko、Ishizaki Yoshito、Sanefuji Masafumi、Yamane Kenichi、Yamashita Hiroshi、Torisu Hiroyuki、Kira Ryutaro、Hara Toshiro、Kanba Shigenobu、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Neurology: Clinical Practice
  
  Volume: - Issue: 5 Pages: 398-405
- DOI
  10.1212/cpj.0000000000000920
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K16301, KAKENHI-PROJECT-19K08281
[Journal Article] De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies2020
- Author(s)
  Misako Kunii, Hiroshi Doi, Shunta Hashiguchi, Toyojiro Matsuishi, Yasunari Sakai, Mizue Iai, Masaki Okubo, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Hideyuki Takeuchi, Taro Ishikawa, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Fumiaki Tanaka
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 416 Pages: 117047-117047
- DOI
  10.1016/j.jns.2020.117047
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K06529, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-19K17014
[Journal Article] Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: A case report and review of the literature2020
- Author(s)
  Nishiyama K, Kurokawa M, Torio M, Sakai Y*, Arima M, Tsukamoto S, Obata S, Minamikawa S, Nozu K, Kaku N, Maehara Y, Sonoda KH, Taguchi T, Ohga S
- Journal Title
  
  BMC Med Genet
  
  Volume: NA Issue: 1
- DOI
  10.1186/s12881-020-01019-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281
[Journal Article] Positive effect of exogenous brain-derived neurotrophic factor on impaired neurite development and mitochondrial function in dopaminergic neurons derived from dental pulp stem cells from children with attention deficit hyperactivity disorder2019
- Author(s)
  Nguyen Nguyen Huong Thi、Kato Hiroki、Sato Hiroshi、Yamaza Haruyoshi、Sakai Yasunari、Ohga Shouichi、Nonaka Kazuaki、Masuda Keiji
- Journal Title
  
  Biochemical and Biophysical Research Communications
  
  Volume: 513 Issue: 4 Pages: 1048-1054
- DOI
  10.1016/j.bbrc.2019.04.084
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08281
[Journal Article] Management of apnea in infants with trisomy 18.2019
- Author(s)
  Taira R, Inoue H, Sawano T, Fujiyoshi J, Ichimiya Y, Torio M, Sanefuji M, Ochiai M, Sakai Y, Ohga S.
- Journal Title
  
  Dev Med Child Neurol
  
  Volume: in press Issue: 7 Pages: 119-125
- DOI
  10.1111/dmcn.14403
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-18K07849
[Journal Article] Decision-making dilemmas of paediatricians: a qualitative study in Japan.2019
- Author(s)
  Sasazuki M, Sakai Y, Kira R, Toda N, Ichimiya Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Narama M, Itai K, Hara T, Takada H, Kizawa Y, Ohga S.
- Journal Title
  
  BMJ Open
  
  Volume: 9 Issue: 8 Pages: e026579-e026579
- DOI
  10.1136/bmjopen-2018-026579
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19H03613, KAKENHI-PROJECT-18H03084
[Journal Article] A Child with Prostaglandin I<sub>2</sub>-associated Thyrotoxicosis: Case Report2019
- Author(s)
  Sonoda Yuri、Yamamura Kenichiro、Ishii Kanako、Ohkubo Kazuhiro、Ihara Kenji、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Journal of Clinical Research in Pediatric Endocrinology
  
  Volume: 11 Issue: 2 Pages: 207-210
- DOI
  10.4274/jcrpe.galenos.2018.2018.0169
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-18K15677
[Journal Article] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes2019
- Author(s)
  Iwasawa Shinya、Yanagi Kumiko、Kikuchi Atsuo、Kobayashi Yasuko、Haginoya Kazuhiro、Matsumoto Hiroshi、Kurosawa Kenji、Ochiai Masayuki、Sakai Yasunari、Fujita Atsushi、Miyake Noriko、Niihori Tetsuya、ら
- Journal Title
  
  Annals of Neurology
  
  Volume: － Issue: 6 Pages: 927-933
- DOI
  10.1002/ana.25481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19281, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-17H01539
[Journal Article] Association of perinatal factors of epilepsy in very low birth weight infants, using a nationwide database in Japan2019
- Author(s)
  Matsushita Yuki、on behalf of the Neonatal Research Network of Japan (NRNJ)、Sakai Yasunari、Torio Michiko、Inoue Hirosuke、Ochiai Masayuki、Yasuoka Kazuaki、Kurata Hiroaki、Fujiyoshi Junko、Ichiyama Masako、Taguchi Tomoaki、Kato Kiyoko、Ohga Shouichi
- Journal Title
  
  Journal of Perinatology
  
  Volume: 39 Issue: 11 Pages: 1472-1479
- DOI
  10.1038/s41372-019-0494-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08281
[Journal Article] An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome2019
- Author(s)
  Okuzono Sayaka、Fukai Ryoko、Noda Marie、Miyake Noriko、Lee Sooyoung、Kaku Noriyuki、Sanefuji Masafumi、Akamine Satoshi、Kanno Shunsuke、Ishizaki Yoshito、Torisu Hiroyuki、Kira Ryutaro、Matsumoto Naomichi、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  Brain and Development
  
  Volume: 41 Issue: 4 Pages: 378-381
- DOI
  10.1016/j.braindev.2018.10.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18K15459
[Journal Article] Late-Onset Circulatory Collapse and Risk of Cerebral Palsy in Extremely Preterm Infants2019
- Author(s)
  Yasuoka Kazuaki、Inoue Hirosuke、Egami Naoki、Ochiai Masayuki、Tanaka Koichi、Sawano Toru、Kurata Hiroaki、Ichiyama Masako、Fujiyoshi Junko、Matsushita Yuki、Sakai Yasunari、Ohga Shouichi
- Journal Title
  
  The Journal of Pediatrics
  
  Volume: 212 Pages: 117-123.e4
- DOI
  10.1016/j.jpeds.2019.05.033
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08281
[Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy2019
- Author(s)
  Takata Atsushi、Nakashima Mitsuko、Saitsu Hirotomo、Osaka Hitoshi、Nakamura Kazuyuki、Takeshita Saoko、Sakai Yasunari、Miyake Noriko、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Nature Communications
  
  Volume: 10 Issue: 1 Pages: 2506-2506
- DOI
  10.1038/s41467-019-10482-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07865
[Journal Article] Prognostic factors for survival of herpes simplex virus-associated hemophagocytic lymphohistiocytosis2019
- Author(s)
  Sonoda M, Ishimura M, Eguchi K, Shiraishi A, Kanno S, Kaku N, Inoue H, Motomura Y, Ochiai M, Sakai Y, Nakayama M, Ohara O, Ohga S
- Journal Title
  
  Int J Hematol
  
  Volume: NA Issue: 1 Pages: 131-136
- DOI
  10.1007/s12185-019-02738-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-17H04229
[Journal Article] Late-onset sepsis and encephalopathy after bicycle-spoke injury: a case report2019
- Author(s)
  Takemoto Ryuichi、Motomura Yoshitomo、Kaku Noriyuki、Ichimiya Yuko、Muraoka Mamoru、Kanno Shunsuke、Tanaka Tamami、Sakai Yasunari、Maehara Yoshihiko、Ohga Shouichi
- Journal Title
  
  BMC Infectious Diseases
  
  Volume: 19 Issue: 1 Pages: 472-472
- DOI
  10.1186/s12879-019-4082-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-17K12349
[Journal Article] Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt2018
- Author(s)
  Uike Kiyoshi、Nagata Hazumu、Hirata Yuichiro、Yamamura Kenichiro、Terashi Eiko、Matsuura Toshiharu、Morihana Eiji、Ohkubo Kazuhiro、Ishii Kanako、Sakai Yasunari、Taguchi Tomoaki、Ohga Shouichi
- Journal Title
  
  Pediatric Pulmonology
  
  Volume: 53 Issue: 4 Pages: 505-511
- DOI
  10.1002/ppul.23944
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10146, KAKENHI-PROJECT-15K09624
[Journal Article] Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome2018
- Author(s)
  Hirofuji S, Hirofuji Y, Kato H, Masuda K, Yamaza H, Sato H, Takayama F, Torio M, Sakai Y,Ohga S, Taguchi T, Nonaka K
- Journal Title
  
  Biochem Biophys Res Commun
  
  Volume: 498 Pages: 898-904
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09624
[Journal Article] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome2017
- Author(s)
  Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto
- Journal Title
  
  Human Mutation
  
  Volume: 印刷中 Issue: 6 Pages: 637-648
- DOI
  10.1002/humu.23200
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H06533, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K09624, KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05198, KAKENHI-PROJECT-16H05357
[Journal Article] Calcineurin inhibitors exacerbate coronary arteritis via the MyD88 signaling pathway in a murine model of Kawasaki disease2017
- Author(s)
  Murata K, Motomura Y, Tanaka T, Kanno S, Yano T, Onimaru M, himoyama A, Nishio H, Sakai Y, Oh-hora M, Hara H, Fukase K, Takada H, Masuda S, Ohga S, Yamasaki S, Hara T
- Journal Title
  
  Clin Exp Immunol
  
  Volume: 190 Pages: 54-67
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09624
[Journal Article] Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome2017
- Author(s)
  Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, Ryo A, Sato Y, Sanefuji M, Ihara K, Takada Y, Nishimura G, Saitsu H, Mizuguchi T, Miyatake S, Nakashima M, Miyake N, Soejima H, Matsumoto N
- Journal Title
  
  Hum Mutat
  
  Volume: 38 Pages: 637-648
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09624
[Journal Article] Sustained endocrine profiles of a girl with WAGR syndrome2017
- Author(s)
  Takada Y, Sakai Y, Matsushita Y, Ohkubo, K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S
- Journal Title
  
  BMC Med Genet
  
  Volume: 18 Pages: 13905-13905
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09624
[Journal Article] Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL22017
- Author(s)
  Akamine S、Sagata N、Sakai Y、Kato TA.、Nakahara T、Matsushita Y、Togao O、Hiwatashi A、Sanefuji M、Ishizaki Y、Torisu H、Saitsu H、Matsumoto N、Hara T、Sawa A、Kano S、Furue M、Kanba S、Shaw CA.、Ohga S
- Journal Title
  
  Epilepsia Open
  
  Volume: 3 Issue: 1 Pages: 81-85
- DOI
  10.1002/epi4.12085
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-26713039, KAKENHI-PROJECT-15K09624
[Journal Article] Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study2017
- Author(s)
  Sagata N, Kato TA, Kano S, Ohgidani M, Shimokawa N, Sato-Kasai M, Hayakawa K, Kuwano N, Wilson AM, Ishizuka K, Kato S, Nakahara T, Nakahara-Kido M, Setoyama D, Sakai Y, Ohga S, Furue M, Sawa A, Kanba S
- Journal Title
  
  Sci Rep
  
  Volume: 7 Pages: 13905-13905
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09624
[Journal Article] Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion2016
- Author(s)
  Lee S, Sanefuji M, Torio M, Kaku N, Ichimiya Y, Mizuguchi S, Baba H, Sakai Y, Ishizaki Y, Torisu H, Kira R Hara T, Ohga S
- Journal Title
  
  J Neurol Sci
  
  Volume: 370 Pages: 39-43
- DOI
  10.1016/j.jns.2016.09.018
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09624, KAKENHI-PROJECT-16K09991
[Journal Article] Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.2016
- Author(s)
  Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T.
- Journal Title
  
  Sci Rep
  
  Volume: 未 Issue: 1 Pages: 22991-22991
- DOI
  10.1038/srep22991
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09655, KAKENHI-PROJECT-24240120, KAKENHI-PROJECT-26893189, KAKENHI-PROJECT-15K09624, KAKENHI-PROJECT-16K08626, KAKENHI-PROJECT-26640081
[Journal Article] A nationwide survey of pediatric acquired demyelinating syndromes in Japan2016
- Author(s)
  Yamaguchi Y, Torisu H, Kira R, Ishizaki Y, Sakai Y, Sanefuji M, Aiba H, Ichiyama T, Oka A, Kishi T, Kimura S, Kubota M, Takanashi J, Takahashi Y, Tamai H, Natsume J, Hamano S, Hirabayashi S, Maegaki Y, Mizuguchi M, Minagawa K, Yoshikawa H, Kira J, Kusunoki S, Takada H, Hara T
- Journal Title
  
  Neurology
  
  Volume: 87 Pages: 2006-2015
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09624
[Journal Article] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis2016
- Author(s)
  Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T
- Journal Title
  
  BMC Neurol
  
  Volume: 16 Issue: 1 Pages: 174-174
- DOI
  10.1186/s12883-016-0680-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-15K09624
[Journal Article] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay2015
- Author(s)
  Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina1 M, Ogata K, Matsumoto N.
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 23
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24650199
[Journal Article] Periodic epileptiform discharges in children with advanced stages of progressive myoclonic epilepsy2015
- Author(s)
  Isobe N, Sakai Y, Kira R, Sanefuji M, Ishizaki Y, Sakata A, Sasazuki M, Torio M, Akamine S, Torisu H, Hara T
- Journal Title
  
  Clin EEG Neurosci
  
  Volume: 46
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24650199
[Journal Article] Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes2014
- Author(s)
  Torisu H, Watanabe K, Shimojima K, Sugawara K, Sanefuji M, Ishizaki Y, Sakai Y, Yamashita H, Yamamoto T, Hara T
- Journal Title
  
  Brain Dev
  
  Volume: 36 Pages: 342-345
- Data Source
  KAKENHI-PROJECT-23591503
[Journal Article] Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome2014
- Author(s)
  Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T
- Journal Title
  
  BMC Med Genomics
  
  Volume: 7 Pages: 19-19
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24650199
[Journal Article] Kawasaki disease-specific molecules in the sera are linked to microbe-associated molecular patterns in the biofilms2014
- Author(s)
  Kusuda T, Nakashima Y, Murata K, Kanno S, Nishio H, Saito M, Tanaka T, Yamamura K, Sakai Y, Takada H, Miyamoto T, Mizuno Y, Ouchi K, Waki K, Hara T
- Journal Title
  
  PLoS One
  
  Volume: 9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24650199
[Journal Article] Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome2014
- Author(s)
  Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Oda Y, Taguchi T, Shaw CA, Hara T
- Journal Title
  
  BMC Med Genomics
  
  Volume: 7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24650199
[Journal Article] Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes2014
- Author(s)
  Torisu H, Watanabe K, Shimojima K, Sugawara K, Sanefuji M, Ishizaki Y, Sakai Y, Yamashita H, Yamamoto T, Hara T.
- Journal Title
  
  Brain and Development
  
  Volume: 36 Issue: 4 Pages: 342-345
- DOI
  10.1016/j.braindev.2013.05.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591503
[Journal Article] Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report2013
- Author(s)
  Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T
- Journal Title
  
  BMC Research Notes
  
  Volume: 6 Pages: 456-456
- Data Source
  KAKENHI-PROJECT-23591503
[Journal Article] Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.2013
- Author(s)
  Sakai, Y., Ohkubo, K., Matsushita, Y., Akamine, S., Ishizaki, Y., Torisu, H., Ihara, K., Sanefuji, M., Kim, M.S., Lee, K.U., Shaw, C.A., Lim, J., Nakabeppu, Y., and Hara, T.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 59 Issue: 9 Pages: 475-783
- DOI
  10.1016/j.ejmg.2013.06.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22221004, KAKENHI-PROJECT-23591503, KAKENHI-PROJECT-24650199
[Journal Article] Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.2013
- Author(s)
  Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T.
- Journal Title
  
  BMC Research Notes
  
  Volume: 6 Issue: 1 Pages: 456-456
- DOI
  10.1186/1756-0500-6-456
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591503, KAKENHI-PROJECT-24650199
[Journal Article] Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus2013
- Author(s)
  Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T
- Journal Title
  
  Eur J Med Genet
  
  Volume: 56 Pages: 475-83
- Data Source
  KAKENHI-PROJECT-23591503
[Journal Article] Protein interactome reveals converging molecular pathways among autism disorders2011
- Author(s)
  Sakai Y, 他6名
- Journal Title
  
  Science Translational Medicine
  
  Volume: 3 Issue: 86
- DOI
  10.1126/scitranslmed.3002166
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23810025
[Journal Article] Parental age and child growth and development: child health check-up data.2011
- Author(s)
  Iwayama M, Kira R, Kinukawa N, Sakai Y, Torisu H, Sanefuji M, Ishizaki Y, Nose Y, Matsumoto T, Hara T.
- Journal Title
  
  Pediatric International
  
  Volume: 53 Pages: 709-714
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591503
[Journal Article] Parental age and child growth and development : child health check-up data2011
- Author(s)
  Iwayama M, Kira R, Kinukawa N, Sakai Y, Torisu H, Sanefuji M, Ishizaki Y, Nose Y, Matsumoto T, Hara T
- Journal Title
  
  Pediatr Int
  
  Volume: 53 Pages: 709-714
- Data Source
  KAKENHI-PROJECT-23591503
[Journal Article] インタラクトームが示す自閉症の収束的分子メカニズム2011
- Author(s)
  酒井康成
- Journal Title
  
  実験医学
  
  Volume: 29 Pages: 2990-2993
- Data Source
  KAKENHI-PROJECT-23810025
[Journal Article] Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases.2006
- Author(s)
  Sakai Y, Kira R, Torisu H, Ihara K, Yoshiura T, Hara T
- Journal Title
  
  AJNR Am J Neuroradiol 27
  
  Pages: 1924-1926
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591038
[Journal Article] A novel transfection method for mammalian cells using gas plasma2006
- Author(s)
  Sakai Y, et al.
- Journal Title
  
  J Biotechnol 121・13
  
  Pages: 299-308
- Data Source
  KAKENHI-PROJECT-16659279
[Journal Article] Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases.2006
- Author(s)
  Y. Sakai
- Journal Title
  
  American Journal of Neuroradiology 27
  
  Pages: 1924-26
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591095
[Journal Article] The GT to GC single nucleotide polymorphism at the beginning of an alternative exon 2C of human MTH1 gene confers an amino terminal extension that functions as a mitochondrial targeting signal.2006
- Author(s)
  Sakai Y, et a1.
- Journal Title
  
  J Mol Med (in press)
- Data Source
  KAKENHI-PROJECT-16659279
[Journal Article] Benign convulsion with mild gastroenteritis and benign familialinfantile seizure.2006
- Author(s)
  Yasunari Sakai
- Journal Title
  
  Epilepsy Research 68
  
  Pages: 269-271
- Data Source
  KAKENHI-PROJECT-17591095
[Journal Article] Persistent diffusion abnormalities in the brainstem of three children with mitochondrial diseases2006
- Author(s)
  Sakai Y, et al.
- Journal Title
  
  AJNR Am J Neuroradiol (in press)
- Data Source
  KAKENHI-PROJECT-16659279
[Journal Article] Benign convulsion with mild gastroenteritis and benign familial infantile seizure.2006
- Author(s)
  Sakai Y, Kira R, et al.
- Journal Title
  
  Epilepsy Res 68
  
  Pages: 269-271
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591038
[Journal Article] Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases.2006
- Author(s)
  Yasunari Sakai
- Journal Title
  
  American Journal of Neuroradiology 27
  
  Pages: 1924-1926
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17591095
[Journal Article] Benign convulsion with mild gastroenteritis and benign familial infantile seizure.2006
- Author(s)
  Sakai Y, Kira R, Torisu H, Yasumoto S, Saito M, Kusuhara K, Hara T
- Journal Title
  
  Epilepsy Res 68
  
  Pages: 269-271
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591038
[Journal Article] Benign convulsion with mild gastroenteritis and benign familial infantile seizure2006
- Author(s)
  Sakai Y, et a1.
- Journal Title
  
  Epilepsy Res. 68・3
  
  Pages: 269-271
- Data Source
  KAKENHI-PROJECT-16659279
[Journal Article] Persistent diffusion abnormalities in the brainstem of three children with mitochondrial diseases.2006
- Author(s)
  Sakai Y, Kira R, et al.
- Journal Title
  
  AJNR Am Neuroradiol 27
  
  Pages: 332-5
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591038
[Journal Article] A Novel R275X Mutation of the SLC25A15 Gene in a Japanese Patient with the HHH Syndrome.2006
- Author(s)
  Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T
- Journal Title
  
  Brain Dev 28
  
  Pages: 332-335
- NAID
  10020330887
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591038
[Journal Article] Benign convulsion with mild gastroenteritis and benign familial infantile seizure.2006
- Author(s)
  Yasunari Sakai
- Journal Title
  
  Epilepsy Research 68
  
  Pages: 269-271
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17591095
[Journal Article] Benign convulsion with mild gastroenteritis and benign familial infantile seizure.2006
- Author(s)
  Y. Sakai
- Journal Title
  
  Epilepsy Research 68
  
  Pages: 269-271
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591095
[Journal Article] Gene expression profiles in peripheral blood mononuclear cells from patients with subacute sclerosing panencephalitis using oligonucleotide microarrays.2005
- Author(s)
  Takemoto M, Kira R, Kusuhara K, Torisu H, Sakai Y, Hara T
- Journal Title
  
  J Neurovirol 11
  
  Pages: 299-305
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591038
[Journal Article] Genetic susceptibility to simple febrile seizures : interleukin-1beta promoter polymorphisms are associated with sporadic cases.2005
- Author(s)
  Kira R, Torisu H, Takemoto M, Nomura A, Sakai Y, Sanefuji M, Sakamoto K, Matsumoto S, Gondo K, Hara T
- Journal Title
  
  Neurosci Lett 384
  
  Pages: 239-244
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591038
[Journal Article] Persistent diffusion abnormalities in the brainstem of three children with mitochondrial diseases.
- Author(s)
  Sakai Y, Kira R, et al.
- Journal Title
  
  AJNR Am J Neuroradiol (in press)
- Data Source
  KAKENHI-PROJECT-16591038
[Presentation] COVID-19感染後に発症した脳動脈瘤破裂によるくも膜下出血の男児例2023
- Author(s)
  チョンピンフィー、東加奈子、松岡若利、有村公一、三月田祐平、岩城克馬、家守章子、川上晶子、園田有里、一宮優子、水口壮一、賀来典之、酒井康成、大賀正一
- Organizer
  第65回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-19K10613
[Presentation] Shank3aは生後早期マウスのけいれん感受性を制御する2023
- Author(s)
  奥園清香、藤井史彦、松下悠紀、瀬戸山大樹、新明洋平、平良遼志、米元耕輔、赤峰哲、本村良知、實藤雅文、櫻井武、河﨑洋志、Kihoon Han、加藤隆弘、鳥巣浩幸、康東天、中別府雄作、酒井康成、大賀正一
- Organizer
  第126回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-21K07865
[Presentation] Shank3aは生後早期マウスのけいれん感受性を制御する2023
- Author(s)
  奥園清香、藤井史彦、松下悠紀、瀬戸山大樹、新明洋平、平良遼志、米元耕輔、赤峰哲、本村良知、實藤雅文、櫻井武、河﨑洋志、 Kihoon Han、加藤隆弘、鳥巣浩幸、康東天、中別府雄作、酒井康成、大賀正一
- Organizer
  第126回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-21K07865
[Presentation] Shank3a regulates the susceptibility to seizure and thalamocortical connectivity2021
- Author(s)
  Sayaka Okuzono, Yuki Matsushita, Yasunari Sakai*, Ryoji Taira, Kousuke Yonemoto, Satoshi Akamine, Yoshitomo Motomura, Masafumi Sanefuji, Yusaku Nakabeppu, Shouichi Ohga
- Organizer
  American Epilepsy Society Annual Meeting 2021
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07865
[Presentation] 先天性門脈体循環シャントに合併した肺高血圧に対する閉鎖治療の効果2017
- Author(s)
  鵜池清、永田弾、藤井俊輔、松岡良平、江口祥美、村岡衛、福岡将治、長友雄作、大久保一宏、平田悠一郎、石井加奈子、酒井康成、大賀正一、松浦俊治、田口智章
- Organizer
  第20回小児肺循環研究会
- Data Source
  KAKENHI-PROJECT-17K10146
[Presentation] PRRT2変異を有するICCA症候群家系に認めた、幼児期発症部分てんかんの一女児例2013
- Author(s)
  鳥巣浩幸、渡辺恭子、下島圭子、島田姿野、實藤雅文、石崎義人、酒井康成、山本俊至、奥村彰久、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 脳血管周囲腔の拡張を認めたLoeys-Dietz症候群の男児例2013
- Author(s)
  鵜池清、松下悠紀、酒井康成、園田有里、石崎義人、実藤雅文、永田弾、山村健一郎、鳥巣浩幸、原寿郎
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 熱性けいれん重積とけいれん重積型脳症の鑑別における急性期脳波周波数解析2013
- Author(s)
  李守永、鳥巣浩幸、石崎義人、實藤雅文、酒井康成、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 特徴的顔貌、成長障害、精神運動発達遅滞、高カルシウム血症を呈した遠位関節拘縮症の女児例2013
- Author(s)
  鳥尾倫子、鳥巣浩幸、酒井康成、礒部菜摘、石崎義人、實藤雅文、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] PRRT2変異を有するICCA症候群家系に認めた、幼児期発症部分てんかんの一女児例．2013
- Author(s)
  鳥巣浩幸、渡辺恭子、下島圭子、島田姿野、實藤雅文、石崎義人、酒井康成、山本俊至、奥村彰久、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 亜急性硬化性全脳炎と麻疹ワクチン応答の個人差に関連する遺伝子多型についての検討.2013
- Author(s)
  石崎義人、鳥巣浩幸、酒井康成、李守永、實藤雅文、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 自閉症発症に関与する分子シグナルの探索2013
- Author(s)
  酒井康成
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分
- Invited
- Data Source
  KAKENHI-PROJECT-24650199
[Presentation] 日本脳炎経過中のMRI,　SPECT,　脳波所見；10歳男児例2013
- Author(s)
  礒部菜摘、鳥巣浩幸、實藤雅文、李守永、石崎義人、酒井康成、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 熱性けいれん重積とけいれん重積型脳症の鑑別における急性期脳波周波数解析.2013
- Author(s)
  李守永、鳥巣浩幸、石崎義人、實藤雅文、酒井康成、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 質量分析を用いた小児ウイルス関連脳症のバイオマーカーの検索.2013
- Author(s)
  鳥巣浩幸、楠田剛、李守永、賀来典之、礒部菜摘、石崎義人、酒井康成、原寿郎
- Organizer
  第18回日本神経感染症学会
- Place of Presentation
  宮崎市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] けいれん重積後より持続脳波モニタリングを行ったけいれん重積型脳症患者の脳波周波数解析2013
- Author(s)
  李守永、鳥巣浩幸、石崎義人、實藤雅文、酒井康成、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 日本脳炎経過中のMRI, SPECT,脳波所見;10歳男児例2013
- Author(s)
  礒部菜摘、鳥巣浩幸、實藤雅文、李守永、石崎義人、酒井康成、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 亜急性硬化性全脳炎と麻疹ワクチン応答の個人差に関連する遺伝子多型についての検討2013
- Author(s)
  石崎義人、鳥巣浩幸、酒井康成、李守永、實藤雅文、原寿郎
- Organizer
  第55回日本小児神経学会学術集会
- Place of Presentation
  大分
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 質量分析を用いた小児ウイルス関連脳症のバイオマーカーの検索2013
- Author(s)
  鳥巣浩幸、楠田剛、李守永、賀来典之、礒部菜摘、石崎義人、酒井康成、原寿郎
- Organizer
  第18回日本神経感染症学会
- Place of Presentation
  宮崎
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] Hypothalamic dysfunction in 5q14 deletion syndrome2013
- Author(s)
  Sakai Y, Ohkubo K, Matsushita Y, Hara T
- Organizer
  Society for Neuroscience
- Place of Presentation
  San Diego, USA
- Data Source
  KAKENHI-PROJECT-24650199
[Presentation] 有熱時けいれん・意識障害を呈する小児における急性脳症の判別に関する検討2012
- Author(s)
  鳥巣浩幸、李守永、賀来典之、實藤雅文、石崎義人、酒井康成、馬場晴久、原寿郎
- Organizer
  第17回日本神経感染症学会総会
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 急性中枢神経症状を呈する発熱小児における急性脳症の判別2012
- Author(s)
  鳥巣浩幸、李守永、山口結、石崎義人、實藤雅文、酒井康成、原寿郎
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] West症候群を発症したMCAP/MPPH症候群の乳児例2012
- Author(s)
  鳥巣浩幸、金城唯宗、石崎義人、實藤雅文、酒井康成、村上信哉、萩原綱一、板倉朋子、酒田あゆみ、原寿郎
- Organizer
  第46回日本てんかん学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 小児急性脳症と熱性けいれんの鑑別における初期脳波の有効性の検討2012
- Author(s)
  李守永、鳥巣浩幸、實藤雅文、石崎義人、酒井康成、山口結、原寿郎、板倉朋子、酒田あゆみ
- Organizer
  第46回日本てんかん学会総会
- Place of Presentation
  東京都千代田区
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 熱性けいれん重積と急性脳症の鑑別における急性期脳波の有効性の検討2012
- Author(s)
  李守永、鳥巣浩幸、實藤雅文、石崎義人、酒井康成、山口結、原寿郎
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  札幌市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 急性中枢神経症状を呈する発熱小児における急性脳症の判別2012
- Author(s)
  鳥巣浩幸、李守永、山口結、石崎義人、實藤雅文、酒井康成、原寿郎
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  札幌市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] 有熱時けいれん・意識障害を呈する小児における急性脳症の判別に関する検討2012
- Author(s)
  鳥巣浩幸、李守永、賀来典之、實藤雅文、石崎義人、酒井康成、馬場晴久、原寿郎
- Organizer
  第17回日本神経感染症学会総会
- Place of Presentation
  京都市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] West 症候群を発症したMCAP/MPPH症候群の乳児例2012
- Author(s)
  鳥巣浩幸、金城唯宗、石崎義人、實藤雅文、酒井康成、村上信哉、萩原綱一、板倉朋子、酒田あゆみ、原寿郎
- Organizer
  第46回日本てんかん学会総会
- Place of Presentation
  東京都千代田区
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] アデノウイルス関連急性脳炎、心筋炎の6歳男児例2012
- Author(s)
  李守永、鳥巣浩幸、山村健一郎、賀来典之、馬場晴久、實藤雅文、石崎義人、酒井康成、原寿郎
- Organizer
  第17回日本神経感染症学会総会
- Place of Presentation
  京都市
- Data Source
  KAKENHI-PROJECT-23591503
[Presentation] インタラクトームが示す自閉症の収束的分子メカニズム2011
- Author(s)
  Sakai Y
- Organizer
  第34回日本分子生物学会年会(MBSJ2011)
- Place of Presentation
  横浜市(パシフィコ横浜)
- Year and Date
  2011-12-14
- Data Source
  KAKENHI-PROJECT-23810025
[Presentation] The network approach towards identifying the molecular pathogenesis of autism and related disorders
- Author(s)
  酒井康成
- Organizer
  第35回日本分子生物学会年会（精神のオミックス・ワークショップ）
- Place of Presentation
  福岡
- Invited
- Data Source
  KAKENHI-PROJECT-24650199
[Presentation] Proteomic approaches deciphering the molecular pathways for autism spectrum disorders
- Author(s)
  Yasunari Sakai, Chad A Shaw, Zaina Al-Mohtaseb, Diana V Dugas, Toshiro Hara:
- Organizer
  第54回日本小児神経学会総会（English Session）
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-24650199
[Presentation] MEF2C遺伝子を含む染色体5q14.3領域の欠失を認めた重度精神遅滞の14歳男児例
- Author(s)
  酒井康成，鳥巣浩幸，實藤雅文，山口結，石崎義人，鳥尾倫子，磯部菜摘，原寿郎
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-24650199

1. TORISU HIROYUKI (10398076)

# of Collaborated Projects: 3 results

# of Collaborated Products: 34 results
2. KIRA Ryutaro (70304805)

# of Collaborated Projects: 3 results

# of Collaborated Products: 10 results
3. 中別府雄作 (30180350)

# of Collaborated Projects: 3 results

# of Collaborated Products: 4 results
4. HARA Toshiro (40150445)

# of Collaborated Projects: 2 results

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5. Ishizaki Yoshito (20572944)

# of Collaborated Projects: 2 results

# of Collaborated Products: 29 results
6. Sasazuki Momoko (40809125)

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7. Kato Takahiro (70546465)

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8. KUSUHARA Koichi (20243941)

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9. TAKADA Hidetoshi (70294931)

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10. NOMURA Akihiko (00325531)

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11. YOSHIKAI Yasunobu (90158402)

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12. SUGIYAMA Hiroyuki (20124224)

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35. NIIHORI Tetsuya

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37. ISHI Shunsuke

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38. 今川英里

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39. 園田有里

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42. 加藤大樹

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44. 鳥尾倫子

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45. 松本直通

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SAKAI YASUNARI 酒井 康成

SAKAI Yasunari 酒井 康成

Research Projects

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不均一かつ多様なミクログリア構成にもとづく脱髄性疾患の新規治療点の解明Principal Investigator

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A study for convergent molecular mechanisms underlying epileptic encephalopathy using cortical organoidsPrincipal Investigator

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Development of a new translational medicine for epilepsy using the Pten-mutant micePrincipal Investigator

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Postnatal brain development regulated by intellectual disability-associated protein complexPrincipal Investigator

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日本人自閉症児に見られる新規染色体コピー数変異の探索Principal Investigator

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SAKAI YASUNARI 酒井康成

SAKAI Yasunari 酒井康成