TAKANO Kyoko 高野亨子

… Alternative Names

高野亨子タカノキョウコ

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Researcher Number	70392420
Affiliation (Current)	2025: 信州大学, 学術研究院医学系(医学部附属病院), 講師
Affiliation (based on the past Project Information) *help	2018 – 2023: 信州大学, 学術研究院医学系(医学部附属病院), 講師 2014 – 2017: 信州大学, 学術研究院医学系, 助教 2007: National Institution of Neuroscience., Visiting Fellow 2006: 国立精神・神経センター, 神経研究所疾病研究第二部, 流動研究員
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics Except Principal Investigator Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator マイクロアレイ染色体検査 / 次世代シークエンス解析 / 神経発達症 / 知的障害 / 網羅的DNAメチル化解析 / 知的発達症 / ヒストンリジンメチル化 / 次世代シークエンス / マイクロアレイ染色体解析 / 疾患関連遺伝子カスタムパネル解析 … More / 遺伝的要因 / てんかん / 自閉スペクトラム症 / パネル解析 / 知的障害原因 / 臨床エクソーム解析 / 遺伝カウンセリング / エクソーム解析 / 疾患パネル解析 / 次世代シークエンサー … More Except Principal Investigator Alu / 包括的病態解析 / iPS細胞 / マウスモデル / デルマタン硫酸 / 筋拘縮型エーラス・ダンロス症候群 / エピジェネティック / 1細胞解析 / X染色体不活化 / エピジェネティクス / RNA-FISH / 相同染色体 / １細胞解析 / alternative splicing / evolution / RNA intereference / genome / Nonsence-mediate decay / 選択的スプライシング / 進化 / RNA干渉 / ゲノム / ナンセンス変異依存分解機構 Less

知的発達症におけるヒストンリジンメチル化の役割の解明Principal Investigator
- Principal Investigator
  
  高野亨子
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndrome
- Principal Investigator
  
  Kosho Tomoki
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Genetic evaluation of patients with neurodevelopmental disordersPrincipal Investigator
- Principal Investigator
  
  Takano Kyoko
- Project Period (FY)
  2018 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Shinshu University
Research for single cell expression analysis and epigenetic mechanism using RNA-FISH analyses
- Principal Investigator
  
  Wakui Keiko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Shinshu University
Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencingPrincipal Investigator
- Principal Investigator
  
  TAKANO Kyoko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Shinshu University
Does NMD prevent the disruption of genes from genomis integration of Alu elements?
- Principal Investigator
  
  INOUE Ken
- Project Period (FY)
  2005 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  National Center of Neurology and Psychiatry

All 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2007 2006 Other

All Journal Article Presentation

[Journal Article] Characteristics of an advanced epilepsy treatment gap in a region in Japan2023
- Author(s)
  Fukuyama Tetsuhiro、Yabe Manami、Nishioka Makoto、Natsume Takenori、Hoshino Yuumi、Kanaya Kohei、Takano Kyoko、Kobayashi Norimoto、Inoue Yushi
- Journal Title
  
  Epilepsy & Behavior Reports
  
  Volume: 24 Pages: 100628-100628
- DOI
  10.1016/j.ebr.2023.100628
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07815
[Journal Article] Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome2022
- Author(s)
  Hoshino Yumi、Kodaira Minori、Matsuno Atsuhiro、Kaneko Tomoki、Fukuyama Tetsuhiro、Takano Kyoko、Yazaki Masahide、Sekijima Yoshiki
- Journal Title
  
  Intern. Med.
  
  Volume: 61 Issue: 4 Pages: 553-557
- DOI
  10.2169/internalmedicine.7843-21
- NAID
  130008159952
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2022-02-15
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07815, KAKENHI-PROJECT-21K06884
[Journal Article] Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan2021
- Author(s)
  Iwayama Hideyuki、Tanaka Tatsushi、Aoyama Kohei、Moroto Masaharu、Adachi Shinsuke、Fujisawa Yasuko、Matsuura Hiroki、Takano Kyoko、Mizuno Haruo、Okumura Akihisa
- Journal Title
  
  Frontiers in Neurology
  
  Volume: 12 Pages: 657820-657820
- DOI
  10.3389/fneur.2021.657820
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15691, KAKENHI-PROJECT-18K07815, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-21K07783, KAKENHI-PROJECT-21K07810
[Journal Article] Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency2021
- Author(s)
  Iwayama Hideyuki、Kakita Hiroki、Iwasa Masumi、Adachi Shinsuke、Takano Kyoko、Kikuchi Masahiro、Fujisawa Yasuko、Osaka Hitoshi、Yamada Yasumasa、Okumura Akihisa、Hirani Khemraj、Weiss Roy E.、Refetoff Samuel
- Journal Title
  
  Thyroid
  
  Volume: 31 Issue: 9 Pages: 696-696
- DOI
  10.1089/thy.2020.0696
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K15691, KAKENHI-PROJECT-18K07815, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-21K07783, KAKENHI-PROJECT-21K07810
[Journal Article] てんかん発作を契機に診断された48,XXYY男性の1例2021
- Author(s)
  大澤由寛, 荒井萌子, 夏目岳典, 高野亨子, 福山哲広
- Journal Title
  
  脳と発達
  
  Volume: 53 Pages: 214-216
- NAID
  130008051280
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07815
[Journal Article] High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN)2020
- Author(s)
  Kidokoro Hiroyuki、Yamamoto Hiroyuki、Kubota Tetsuo、Motobayashi Mitsuo、Miyamoto Yusaku、Nakata Tomohiko、Takano Kyoko、Shiba Naoko、Okai Yu、Tanaka Masaharu、Sakaguchi Yoko、Maki Yuki、Kawaguchi Masahiro、Suzuki Takeshi、Muramatsu Kazuhiro、Natsume Jun
- Journal Title
  
  Clinical Neurophysiology
  
  Volume: 131 Issue: 9 Pages: 2100-2104
- DOI
  10.1016/j.clinph.2020.06.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07815
[Journal Article] Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6?dependent Epilepsy Than Pyridoxal 5′-Phosphate2020
- Author(s)
  Akiyama T, Hyodo Y, Hasegawa K, Oboshi T, Imai K, Ishihara N, Dowa Y, Koike T, Yamamoto T, Shibasaki J, Shimbo H, Fukuyama T, Takano K, Shiraku H, Takeshita S, Okanishi T, Baba S, Kubota M, Hamano SI, Kobayashi K.
- Journal Title
  
  Pediatric Neurology
  
  Volume: 113 Pages: 33-41
- DOI
  10.1016/j.pediatrneurol.2020.08.020
- NAID
  120007147392
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07815
[Journal Article] Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders2020
- Author(s)
  Aref-Eshghi E, Kerkhof J, Pedro VP; Groupe DI France, Barat-Houari M, Ruiz-Pallares N, et al.（Takano K, 68名中51番目）
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 106 Issue: 3 Pages: 356-370
- DOI
  10.1016/j.ajhg.2020.01.019
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Journal Article] Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.2016
- Author(s)
  Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170 Issue: 2 Pages: 322-328
- DOI
  10.1002/ajmg.a.37432
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461522
[Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.2016
- Author(s)
  Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
- Journal Title
  
  Brain Dev.
  
  Volume: 38 Issue: 7 Pages: 285-92
- DOI
  10.1038/jhg.2016.27
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25293085, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-26461522, KAKENHI-PROJECT-15K10367
[Journal Article] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.2015
- Author(s)
  Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
- Journal Title
  
  Pediatr Int.
  
  Volume: 57 Issue: 2 Pages: 324-326
- DOI
  10.1111/ped.12613
- NAID
  120005666180
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461522, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] A Japanese girl　with an early-infantile onset vanishing white matter disease resembling Cree　leukoencephalopathy.2014
- Author(s)
  Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S,
- Journal Title
  
  Brain Dev.
  
  Volume: 37(6) Issue: 6 Pages: 638-42
- DOI
  10.1016/j.braindev.2014.10.002
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-23591264, KAKENHI-PROJECT-26461522, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
[Journal Article] Loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family2007
- Author(s)
  Takano K, Nakagawa E, Inoue K, 他
- Journal Title
  
  American Journal of Medical Genetics B on-line advance publicattion
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family2007
- Author(s)
  Takano K, et. al.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet Epub ahead of print
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17390102
[Journal Article] A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.2007
- Author(s)
  Takano K, et. al.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet.
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] Epigenetic signatures help interpret a nonsense variant with uncertain significance in the last exon of the KMT2A gene2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  日本人類遺伝学会第68回大会（アジア太平洋人類遺伝学会第14回大会、東アジア人類遺伝学会連合第22回大会と合同開催）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07934
[Presentation] Three patients with Wiedemann-Steiner syndrome2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Keiko Wakui, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  米国人類遺伝学会（ASHG2023）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Epigenetic signatures help interpret a nonsense variant with uncertain significance in the last exon of the KMT2A gene2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  日本人類遺伝学会第68回大会（アジア太平洋人類遺伝学会第14回大会、東アジア人類遺伝学会連合第22回大会と合同開催）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Three patients with Wiedemann-Steiner syndrome2023
- Author(s)
  Kyoko Takano, Tomoko Kawai, Tomomi Yamaguchi, Keiko Wakui, Kazuhiko Nakabayashi, Kenichiro Hata, Shinji Saitoh, Tomoki Kosho
- Organizer
  米国人類遺伝学会（ASHG2023）
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07934
[Presentation] 次世代シークエンス解析にて診断したWhite-Sutton症候群の1例2022
- Author(s)
  坂本昌彦, 奥田裕也, 荻原美紀, 重田大輔, 山本歩, 降籏めぐみ, 蓮見純平, 清水隆, 中沢孝行, 依田達也, 武田良淳, 高野亨子
- Organizer
  小児科学会長野地方会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] DeSanto-Shinawi症候群の２例2022
- Author(s)
  高野亨子、原田　由紀子、山口智美、涌井敬子、古庄知己
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] CHD2関連疾患の2例2022
- Author(s)
  高野亨子、西岡誠、福山哲広、降籏めぐみ、細谷まち子、山口智美1、古庄知己
- Organizer
  第65回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 早期の歯の交換を示したWiedemann-Steiner症候群の2例2021
- Author(s)
  高野亨子、正村正仁、村上康彦、山口智美、阪下達哉、花房宏昭、湊川真理、涌井敬子、柴崎拓実7、上田宗胤、大須賀直人、古庄知己
- Organizer
  第43回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 関節拘縮を呈したDeSanto-Shinawi症候群の１例2021
- Author(s)
  原田由紀子、高野亨子、中嶋英子、木口サチ、小島洋文、本田　秀夫
- Organizer
  第53回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 信州大学医学部附属病院遺伝子医療研究センターにおけるてんかん遺伝子パネル解析の有用性の検討2021
- Author(s)
  高野亨子、山口智美、涌井敬子、福山哲広、武田良淳、古庄知己
- Organizer
  日本人類遺伝学会第66回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] “Ion AmpliSeq data のCNV検出法”を用いたCNV解析が遺伝学的診断に有用であった2例2020
- Author(s)
  高野亨子、西尾信哉、山口智美、涌井敬子、福山哲広、久保田紀子、武田良淳、古庄知己
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] SYNGAP1関連知的障害の5例2020
- Author(s)
  高野亨子、福山哲広、本林光雄、山崎佐和子、山口智美、涌井敬子、柳久美子、要匡、古庄知己
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] TRIO遺伝子関連知的障害の親子例2020
- Author(s)
  阪下達哉，高野亨子，柴直子，小島朋美，山口智美，涌井敬子，古庄知己
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 信大病院遺伝子医療研究センター「ID外来」におけるマイクロアレイおよび次世代シークエンサーを用いた遺伝学的診断 -第2報-2019
- Author(s)
  高野亨子、涌井敬子、山口智美、湊川真理、花房宏昭、武田良淳、石川真澄、黄瀬恵美子、小島朋美、福山哲広、夏目岳典、本林光雄、稲葉雄二、平林伸一、笛木昇、要匡、秦健一郎、松原洋一、福嶋義光、古庄知己
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Genetic evaluation of patients with neurodevelopmental disorders at the Center for Medical Genetics, Shinshu University Hospital in Matsumoto, Japan.2019
- Author(s)
  Kyoko Takano, Keiko Wakui, Tomomi Yamaguchi, Tetsuhiro Fukuyama, Yuji Inaba, Tadashi Kaname, Kenichiro Hata, Yoichi Matsubara, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  19th International Workshop on Fragile X and other Neurodevelopmental Disorders
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 過成長を伴う発達遅滞・知的障害の遺伝要因および臨床症状の検討2019
- Author(s)
  高野亨子、藤田直久、福山哲広、本林光雄、稲葉雄二、細谷まち子、山口智美、涌井敬子、要匡、秦健一郎、福嶋義光、古庄知己
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] Intranasal desmopressin treatment for massive subcutaneous hematoma in five patients with musculocontractural Ehlers-Danlos syndrome2019
- Author(s)
  Kosho T, Fujita N, Ishikawa M, Kise E, Kojima T, Yamaguchi T, Minatogawa M, Nakamura K, Takano K.
- Organizer
  European Human Genetics Conference 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03616
[Presentation] Three individuals with neurodevelopmental disorders caused by heterozygous protein- truncating variants in KMT5B.2018
- Author(s)
  Kyoko Takano, Tetsuhiro Fukuyama, Mitsuo Motobayashi, Machiko Hosoya, Tomomi Yamaguchi, Rie Kawamura, Keiko Wakui, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  米国人類遺伝学会
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07815
[Presentation] 信州大学医学部附属病院遺伝子医療研究センター知的障害（ID）外来の取り組み2017
- Author(s)
  高野亨子、本林光雄、稲葉雄二、福山哲広、平林伸一、西恵理子、笛木昇、山口智美、涌井敬子、柳久美子、要匡、秦健一郎、古庄知己、福嶋義光
- Organizer
  第59回日本小児神経学会学術集会
- Place of Presentation
  大阪国際会議場(大阪市）
- Year and Date
  2017-06-15
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Hepatosplenomegaly as the initial manifestation of Coffin-Siris syndrome caused by an ARID1B mutation.2016
- Author(s)
  Kyoko Takano, Mitsuo Motobayashi, Tomomi Yamaguchi, Keiko Wakui, Yuji Inaba, Yoshimitsu Fukushima, Tomoki Kosho
- Organizer
  第66回米国人類遺伝学会
- Place of Presentation
  バンクーバーコンベンションセンター（カナダ）
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Genetic evaluation of patients with intellectual disability (ID) using chromosomal microarray and targeted next-generation sequencing at the “ID clinic”2016
- Author(s)
  Kyoko Takano, Tomoki Kosho, Keiko Wakui, Motoko Kamiya, Mitsuo Motobayashi, Naoko Shiba, Tetsuhiro Fukuyama, Noboru Fueki, Shinichi Hirabayashi, Eriko Nishi, Masumi Ishikawa, Emiko Kise, Tomomi Yamaguchi, Rie Kawamura, Yuji Inaba, Yoshimitsu Fukushima
- Organizer
  ICHG 2016
- Place of Presentation
  京都国際会館（京都市）
- Year and Date
  2016-04-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] SHANK3遺伝子変異を認めた1女児例2016
- Author(s)
  高野亨子、古庄知己、涌井敬子、福嶋義光
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  京王プラザホテル新宿（東京都）
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 肝脾腫を呈したCoffin-Siris症候群の1男児例2016
- Author(s)
  高野亨子、本林光雄、山口智美、涌井敬子、稲葉雄二、古庄知己、福嶋義光
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学（東京都）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来の取り組み～第2報～2016
- Author(s)
  高野亨子、神谷素子、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、古庄知己、福嶋義光
- Organizer
  第１１９回日本小児科学会学術集会
- Place of Presentation
  ロイトン札幌（札幌市）
- Year and Date
  2016-05-13
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来開設1年間の成果－遺伝学的背景・臨床症状の検討－2015
- Author(s)
  高野亨子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、石川真澄、黄瀬恵美子、山口智美、河村理恵、涌井敬子、古庄知己、福嶋義光
- Organizer
  第38回日本小児遺伝学会学術集会
- Place of Presentation
  パシフィコ横浜会議センター（横浜市）
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来受診患者の遺伝学的背景・臨床症状の検討2015
- Author(s)
  高野亨子、古庄知己、涌井敬子、神谷素子、石川真澄、黄瀬恵美子、山口智美、河村理恵、西恵理子、柴直子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、福嶋義光
- Organizer
  日本人類遺伝学会第６０回大会
- Place of Presentation
  京王プラザホテル（東京都）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] β-propeller protein-associated neurodegeneration (BPAN)の１女児例2015
- Author(s)
  高野亨子、柴直子、本林光雄、稲葉　雄二、福嶋　義光
- Organizer
  第５７回日本小児神経学会学術集会
- Place of Presentation
  帝国ホテル大阪（大阪市）
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Two patients diagnosed with BPAN in infancy.2015
- Author(s)
  Kyoko Takano, Naoko Shiba, Kazuya Goto, Tomomi Yamaguchi, Keiko Wakui, Tomoki Kosho, Yuji Inaba, Yoshimitsu Fukushima
- Organizer
  ASHG 2015
- Place of Presentation
  Baltimore（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] Nousense-medicated mRNA decay is not a major contributor to downregulate the Alu-containing splicing variants.2006
- Author(s)
  K.Inoue, K.Takano, Y.Goto.
- Organizer
  56th annual meeting of the American Society of Human Genetics.
- Place of Presentation
  New Orleans,US
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] A loss-of-function mutation in the FTSJI gene causes non-syndromic mental retardation in a Japanese family.2006
- Author(s)
  K.Takano, E.Nakagawa, K.Inoue, F.Kamada, S.Kure, Y.Goto
- Organizer
  56th Annual meeting of the American Society of Human Genetics.
- Place of Presentation
  New Orleans,US
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] A loss-of-function mutation in the FTSJ1 gene causes non-syndromic mental retardation in a Japanese family2006
- Author(s)
  K. Takano, et. al.
- Organizer
  56^<th> Annual meeting of the American Society of Human Genetics
- Place of Presentation
  New Orleans, USA
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390102
[Presentation] 信州大学医学部附属病院遺伝子診療部知的障害（ID）外来開設の試み
- Author(s)
  高野亨子、本林光雄、稲葉雄二、福山哲広、平林伸一、笛木昇、西恵理子、古庄知己、福嶋義光
- Organizer
  日本小児科学会学術集会
- Place of Presentation
  大阪国際会議場（大阪府）
- Year and Date
  2015-04-17 – 2015-04-19
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] CDKL5遺伝子重複を認めた低身長と小頭症を伴う発達遅滞の男児例
- Author(s)
  高野　亨子、西村　貴文、涌井　敬子、山口　智美、高橋　悟、稲葉　雄二、古庄　知己、福嶋　義光
- Organizer
  日本人類遺伝学会59回大会
- Place of Presentation
  タワーホール船堀（東京都）
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26461522
[Presentation] A duplication of the CDKL5 gene identified in a boy with developmental delay with autistic behavior, short stature and microcephaly
- Author(s)
  Kyoko Takano, Takafumi Nishimura, Keiko Wakui, Satoru Takahashi, Yuji Inaba, Tomoki Kosho, Yoshimitsu Fukushima
- Organizer
  米国人類遺伝学会
- Place of Presentation
  San Diego Convention Center（米国）
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-26461522

1. KOSHO Tomoki (90276311)

# of Collaborated Projects: 5 results

# of Collaborated Products: 29 results
2. Wakui Keiko (50324249)

# of Collaborated Projects: 4 results

# of Collaborated Products: 23 results
3. 福嶋義光 (70273084)

# of Collaborated Projects: 2 results

# of Collaborated Products: 14 results
4. MATSUMOTO Naomichi (80325638)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
5. KANAME Tadashi (40264288)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
6. INOUE Ken (30392418)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
7. SAITOH Shinji (00281824)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. 稲葉雄二 (30334890)

# of Collaborated Projects: 1 results

# of Collaborated Products: 13 results
9. 河村理恵 (20735534)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. 角田佳充 (00314360)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 岡田尚巳 (00326828)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 野村義宏 (10228372)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 岳鳳鳴 (20532865)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 松本健一 (30202328)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. 上原将志 (30748108)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. 水本秀二 (40443973)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 三宅紀子 (40523494)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. 吉沢隆浩 (40713392)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. 渡邉敬文 (50598216)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. 高橋淳 (60345741)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
21. 宮田真路 (60533792)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
22. 山田修平 (70240017)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
23. 笠原優子 (90391911)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
24. 山口智美 (90802835)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
25. 林正徳 (20624703)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
26. 岩山秀之

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
27. 才津浩智

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

TAKANO Kyoko 高野 亨子

高野 亨子 タカノ キョウコ

Research Projects

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知的発達症におけるヒストンリジンメチル化の役割の解明Principal Investigator

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Integrated understanding of dermatan sulfate through uncovering pathophysiology of musculocontractural Ehlers-Danlos syndrome

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Genetic evaluation of patients with neurodevelopmental disordersPrincipal Investigator

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Research for single cell expression analysis and epigenetic mechanism using RNA-FISH analyses

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Genetic evaluation of patients with intellectual disability using chromosomal microarray and next-generation sequencingPrincipal Investigator

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Does NMD prevent the disruption of genes from genomis integration of Alu elements?

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[Journal Article] Characteristics of an advanced epilepsy treatment gap in a region in Japan2023

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[Journal Article] Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome2022

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[Journal Article] Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan2021

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[Journal Article] Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency2021

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[Journal Article] てんかん発作を契機に診断された48,XXYY男性の1例2021

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[Journal Article] High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN)2020

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[Journal Article] Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6?dependent Epilepsy Than Pyridoxal 5′-Phosphate2020

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TAKANO Kyoko 高野亨子

高野亨子タカノキョウコ

[Journal Article] A Japanese girl　with an early-infantile onset vanishing white matter disease resembling Cree　leukoencephalopathy.2014