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KUDOH Jun  工藤 純

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… Alternative Names

KUDHO Jun  工藤 淳

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Researcher Number 80178003
Other IDs
Affiliation (based on the past Project Information) *help 2016 – 2017: 慶應義塾大学, 医学部(信濃町), 教授
2011 – 2015: 慶應義塾大学, 医学部, 教授
2014: 慶應義塾大学医学部, 遺伝子医学研究室, 教授
2013: 慶応義塾大学, 医学研究科, 教授
2009: Keio University, 医学部, 教授 … More
2007 – 2008: Keio University, 医学部, 准教授
2003 – 2006: 慶應義塾大学, 医学部, 助教授
2004: 慶応義塾大学, 医学部, 助教授
2003: 慶應大学, 医学部, 助教授
2000 – 2003: 慶應義塾大学, 医学部, 講師
1998 – 2002: 慶應義塾大学, 医学部, 専任講師
1998: Keio University, Medicine, assistant professor, 医学部, 講師
1992 – 1997: 慶應義塾大学, 医学部, 助手
1996: 慶大, 医学部, 助手
1993: 慶応義塾大学, 医学部・分子生物, 助手
1993: 慶應義塾大学, 医学部・分子生物, 助手
1989 – 1991: 慶応義塾大学, 医学部, 助手
1987 – 1990: 慶應義塾大学, 医学部, 助手
1989: 慶應義塾大学, 医学部・分子生物学教室, 助手 Less
Review Section/Research Field
Principal Investigator
Biological Sciences / Biological Sciences / Pediatrics / Pediatrics / Psychiatric science / Laboratory animal science
Except Principal Investigator
Ophthalmology / Dermatology / Pediatrics / Otorhinolaryngology … More / Dermatology / Biological pharmacy / Embryonic/Neonatal medicine / Endocrinology / 医学一般 / Pediatric surgery Less
Keywords
Principal Investigator
21番染色体 / BAC / 躁鬱病 / 多型 / 双極性障害 / HAC / バイオテクノロジー / TRPM2 / エキソントラッピング / Down syndrome … More / GIRK2 / weaver / MNB / HCS / SIM / exon trapping / YAC / EPM1 / エキソーム / 遺伝子 / ゲノム / マウス10番染色体 / マウス17番染色体 / マウス16番染色体 / 疾患モデルマウス / ヒト21番染色体 / トリソミー21 / ダウン症 / GRK3 / 22番染色体 / 線条体 / NCAM2 / BACE2 / シーケンシング / PASドメイン / コスミド / 第21染色体 / ダウン症候群 / trisomy 21 / mouse chromosome 10 / mouse chromosome 17 / disease model mice / human chromosome 21 / chromosome 21 / 転写調節因子 / bHLH / スレオニンキナーゼ / セリン / Dyrk / minibrain / cosmid / Myoclonus Epilepsy / genetic disease / Chromosome 21 / FISH / 染色体ソーティング / コンティグ / コスミドライブラリー / 遺伝疾患 / 進行性ミオクローヌスてんかん / ミオクローヌスてんかん / 遺伝病 / 次世代シーケンサー / GC含量 / 核酸 / エキソーム解析 / 顕微注入法 / 染色体工学 / 発生工学 / 人工染色体 / 実験動物 / ZNF295 / SLC5A3 / synaptojanin / ANKRD3 / TRPC7 / TMPRSS3 / DNMT3L / bHLHドメイン / sim / DSCR … More
Except Principal Investigator
DYRK1A / MNB / プロモーター / ミオシリン / DSCR4 / SIM2 / ダウン症 / CBP / AIRE / APS-1 / APECED / mutation / glaucoma / myocilin / 網膜アミンオキシダーゼ / ISLR / 遺伝子変異 / 緑内障 / トランスジェニックマウス / 自己免疫疾患 / 転写調節因子 / cDNA / 分子生物学 / 次世代シーケンサー / 遺伝子 / アミンオキシダーゼ / プロテインキナ-ゼC / シグナル伝達 / パルスフィ-ルド電気泳動 / セルソ-タ- / 第21染色体 / プラキンファミリー / アトピー性皮膚炎 / タイトジャンクション / epiplakin / HaCaT細胞 / HeLa細胞 / コピー数多様性 / エピプラキン / Centrosome / Checkpoint at M phase / Cell cycle / Kinase / Chromosome 21 / Down syndrome / 中心体 / M期チェックポイント / 細胞周期 / DYRX1A / リン酸化酵素 / ヒト21番染色体 / ganglion / diagnosis / Invader assay / SNP / optineurin / 接着分子 / RAO遺伝子 / インベーダーアッセイ法 / レニン・アンギオテンシン系 / インベーダー法 / 遺伝子多型 / 遺伝子診断 / オプチニューリン / target gene / ubiquitination / nuclear localization signal / Regulation of transcription / Down Syndrome / CpGアイランドメチル化 / 定量RT-PCR / 恒常発現細胞 / CpGアイランドのメチル化 / デイファレンシャルデイスプレイ法 / ARNT2 / 標的遺伝子 / ユビキチン化 / 核移行シグナル / 転写調節 / human amine oxidase / idebenone / Leber's disease / mause amine oxidase / promotor / retinal ganglion cell / ベクター / ヒトアミンオキシダーゼ / イデベノン / レーベル病 / マウスアミンオキシダーゼ / 網膜神経節細胞 / Dendritic cells / Antigen presenting cells / Thymus / Autoimmune disease / RelB / 免疫応答 / SV40T抗原 / 樹状細胞 / 抗原提示細胞 / 胸腺 / amine oxidase / gene cloning / retina / 染色体マッピング / シオシリン / 遺伝子クローニング / 網膜 / immune tolerance / autoimmune disease / morphogenesis / transcription factor / cDNA screening / genome sequencing / exon trapping / cardiac defects / 猫目症候群 / BACクローン / SIM2遺伝子 / コスミドクローン / ダウン症候群 / 免疫寛容 / 形態形成 / cDNAスクリーニング / ゲノムシーケンシング / エキソントラッピング / 心臓障害 / 細胞接着 / 尋常性天疱瘡抗原 / デスモコリン / 遺伝子工学 / 自己抗原 / ウエスタンブロット / 複合蛋白 / デスモグレイン / カドヘリン / デスモソーム / 天疱瘡 / Biochemistry / Molecular biology / Desmoyokin / Desmosome / Cell adhesion / Epidermis / 生化学 / デスモヨ-キン / デスモソ-ム / 細胞間接着 / 表皮 / RFLP polymorphism / sequence analysis / short stature / growth hormone / GH-1 gene / GHーN遺伝子 / RFLP / DNA診断 / 遺伝性成長ホルモン単独欠損症 / Sanger法 / 成長ホルモン単独欠損症1A型 / 低身長 / Sangen法 / RFLP連鎖解析 / GHー1遺伝子 / 成長ホルモン / ホスホリボシルピロリン酸シンテターゼ / インスリンレセプター / インターロイキン4 / ミエロパーオキシダーゼ / セルソーター / プロテインキナーゼC / Interleukin 4 / Myeloperoxidase / 染色体ソーティング / Phosphoribosylpyrophosphate synthetase / ATP synthase βサブユニット / カルパイン / 遺伝子マッピング / Adenine nucleotide translocater / 雑種細胞 / スポットブロットハイブリダイゼ-ション / 水疱性類天疱瘡抗原蛋白遺伝子 / Calpastatin / Calpain subunit / 染色体ソ-ティング / 雑種細胞パネル / FACS 440セルソ-タ- / 遺伝子マップ / 新規疾患遺伝子 / エクソーム解析 / 蝸牛神経低形成 / 蝸牛低形成 / 遺伝性難聴 / 網羅的遺伝子解析 / 神経堤幹細胞 / 腸管グリア / hypoganglionosis / ヒルシュスプルング病類縁疾患 / ヒルシュスプルング病 / 神経堤細胞 / 再生医療 / 幹細胞 / 分化 / 発生 / 腸管神経 / バイオテクノロジー / 脳神経疾患 / ゲノム / 医療・福祉 / 多型 / マウス / チュブリン / 網膜視神経節細胞層 / アミンナキシダーゼ / 視神経 / 網膜特異的遺伝子 / cDNAライブラリ- / MARCKS蛋白質 / 80KーL蛋白 / 80KーH蛋白 / 細胞内基質 / トランスミッタ- / 早発型家族性アルツハイマ-病遺伝子(AD1) / APP / SOD / PCR / 巨大DNA断片 / モノクロ-ナル抗体 / 蛋白リン酸化 / Cキナ-ゼ / シナプトソ-ム / MARCKS / 80K蛋白 / PCR法 / 連鎖解析 / RFLPマ-カ- / 家族性アルツハイマ-病遺伝子(AD1) / 常染色体優性遺伝 Less
  • Research Projects

    (34 results)
  • Research Products

    (32 results)
  • Co-Researchers

    (61 People)
  •  Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin

    • Principal Investigator
      Ishikawa Kazushi
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Dermatology
    • Research Institution
      Oita University
  •  エキソーム解析における難読領域を標的とする解読法の開発Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  Elucidation of novel genes causing auditory neuropathy

    • Principal Investigator
      MATSUNAGA Tatsuo
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      独立行政法人国立病院機構(東京医療センター臨床研究センター)
  •  Gene analyses and neural crest stem cell therapy in Hirschsprung's disease and allied disorders.

    • Principal Investigator
      SHIMOJIMA Naoki
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatric surgery
    • Research Institution
      Keio University
  •  Study of responsible genes for cochlea and cochlear nerve dysplasia

    • Principal Investigator
      MATSUNAGA Tatsuo
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Otorhinolaryngology
    • Research Institution
      独立行政法人国立病院機構(東京医療センター臨床研究センター)
  •  真の全エキソン解読を達成するための改良エキソーム解析法の開発Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  Identification of genes responsible for Down syndrome using mice harboring a human artfuciak chromosome (HAC).Principal Investigator

    • Principal Investigator
      KUDOH Jun
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  ヒト人工染色体の受精卵への直接導入によるHAC保有マウス迅速作成技術の開発Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Laboratory animal science
    • Research Institution
      Keio University
  •  双極性障害の疾患感受性遺伝子の解明Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  Production of Down syndrome model mice based on fine genetic information of human chromosome 21.Principal Investigator

    • Principal Investigator
      KUDOH Jun
    • Project Period (FY)
      2004 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      KEIO UNIVERSITY
  •  Cellular functions of MNB/DYRK1A gene cloned from "Down syndrome critical region"

    • Principal Investigator
      ITO Fumiaki
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Biological pharmacy
    • Research Institution
      SETSUNAN UNIVERSITY
  •  双極性障害の疾患感受性遺伝子の解明Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2003
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  双極性障害の疾患感受性遺伝子の解明Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2002
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  Regulation of expression and funcional analysis of Down syndrome gene

    • Principal Investigator
      SHIMIZU Yoshiko
    • Project Period (FY)
      2002 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      Kyorin University
  •  Study of glaucoma associated genes and development of DNA diagnostic panel and therapeutic vector

    • Principal Investigator
      MASHIIMA Yukihiko
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      KEIO UNIVERSITY
  •  双極性障害型躁うつ病の疾患感受性遺伝子の解明Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2001
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  双極性障害型繰うつ病の疾患感受性遺伝子の解明Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  緑内障遺伝子ミオシリンの結合生体分子の解明とその分子間相互作用の解析

    • Principal Investigator
      中村 裕
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Keio University
  •  Study of theretinal ganglion cell specific gene, optic atrophy, and gene threrapy

    • Principal Investigator
      MASHIMA Yukihiko
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Keio University
  •  Roles of the Autoimmune Regulator (AIRE) Gene in Immune Response

    • Principal Investigator
      SHIMIZU Nobuyoshi
    • Project Period (FY)
      1999 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Endocrinology
    • Research Institution
      Keio University
  •  網膜視神経節細胞に特異的に発現する新規遺伝子RAOの機能と遺伝性眼疾患との関連

    • Principal Investigator
      IMAMURA Yutaka
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Ophthalmology
    • Research Institution
      Keio University
  •  Cloning of retina-specific cDNAs and functional analysis

    • Principal Investigator
      MASHIMA Yukihiko
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Keio University
  •  Molecular Analysis of the Genes Involved in Cardiac Defects

    • Principal Investigator
      SHIMIZU Nobuyoshi
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for international Scientific Research
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  Isolation and characterization of candidate genes for Down syndromePrincipal Investigator

    • Principal Investigator
      KUDOH Jun
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  ダウン症候群関連遺伝子の解析Principal Investigator

    • Principal Investigator
      工藤 純
    • Project Period (FY)
      1994
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  デスモソームカドヘリン群cDNAを用いた天疱瘡抗原の解析

    • Principal Investigator
      橋本 隆
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Dermatology
    • Research Institution
      Keio University
  •  Isolation of the Gene for Progressive Myoclonus Epilepsy (EPM1)Principal Investigator

    • Principal Investigator
      KUDOH Jun
    • Project Period (FY)
      1992 – 1993
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Psychiatric science
    • Research Institution
      Keio University
  •  巨大DNA断片特異的PCRによる家族性アルツハイマ-病遺伝子の追究

    • Principal Investigator
      清水 信義
    • Project Period (FY)
      1990
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Keio University
  •  Cloning of total cDNA for desmoplakin and its molecular analysis and chromosomal mapping

    • Principal Investigator
      HASHIMOTO Takashi
    • Project Period (FY)
      1990 – 1991
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Dermatology
    • Research Institution
      Keio University
  •  ヒト第21染色体の物理的地図作成による家族性アルツハイマ-病遺伝子の追究

    • Principal Investigator
      SHIMIZU Nobuyoshi
    • Project Period (FY)
      1989
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Keio University
  •  蛋白キナ-ゼによるトランスミッタ-放出の調節機構

    • Principal Investigator
      清水 信義
    • Project Period (FY)
      1989
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Keio University
  •  蛋白キナ-ゼによるトランスミッタ-放出の調節機構

    • Principal Investigator
      清水 信義
    • Project Period (FY)
      1989 – 1990
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Research Institution
      Keio University
  •  Molecular Analysis of Isolated Growth Hormone Deficiency, Type 1A

    • Principal Investigator
      MATSUO Nobutake
    • Project Period (FY)
      1989 – 1990
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  ヒトの遺伝子マップと染色体のDNAセグメントマップの作成

    • Principal Investigator
      清水 信義
    • Project Period (FY)
      1987 – 1990
    • Research Category
      Grant-in-Aid for General Scientific Research (A)
    • Research Field
      医学一般
    • Research Institution
      Keio University

All 2014 2013 2012 2011 2009 2008 2007 2005 2004 2001

All Journal Article Presentation

  • [Journal Article] Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients : A cross-sectional, multi-center next-generation sequencing study2013

    • Author(s)
      Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
    • Journal Title

      Orphanet J. Rare Dis

      Volume: 8(1) Pages: 172-172

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24659753
  • [Journal Article] Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis2013

    • Author(s)
      Kubo A, Shiohama A, Sasaki T, Nakabayashi K, Kawasaki H, Atsugi T, Sato S, Shimizu A, Mikami S, Tanizaki H, Uchiyama M, Maeda T, Ito T, Sakabe J, Heike T, Okuyama T, Kosaki R, Kosaki K, Kudoh J, Hata K, Umezawa A, Tokura Y, Ishiko A, Niizeki H, Kabashima K, Mitsuhashi Y, Amagai M
    • Journal Title

      Am J Hum Genet

      Volume: 93 Issue: 5 Pages: 945-956

    • DOI

      10.1016/j.ajhg.2013.09.015

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22249044, KAKENHI-PUBLICLY-25129706
  • [Journal Article] Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: A cross-sectional, multi-center next-generation sequencing study.2013

    • Author(s)
      Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T
    • Journal Title

      Orphanet J. Rare Dis

      Volume: 8 Issue: 1 Pages: 172-172

    • DOI

      10.1186/1750-1172-8-172

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390391, KAKENHI-PROJECT-24592573, KAKENHI-PROJECT-24659753
  • [Journal Article] 側頭骨CTで両側蝸牛神経管狭窄を認めた小児難聴症例の検討2012

    • Author(s)
      仲野敦子、有本有季子、松永達雄、工藤典代
    • Journal Title

      日耳鼻会報

      Volume: 115(9) Pages: 849-854

    • NAID

      10031047239

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24659753
  • [Journal Article] Otoferlin遺伝子変異が確認された小児難聴症例の検討2012

    • Author(s)
      仲野敦子、有本友季子、松永達雄、工藤典代
    • Journal Title

      Otol Jpn

      Volume: 22(1) Pages: 47-52

    • NAID

      10030285508

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24390391
  • [Journal Article] 次世代シークエンサーを用いた疾患原因遺伝子の探索:倫理的な配慮も含めて2011

    • Author(s)
      小崎健次郎、工藤純
    • Journal Title

      細胞工学

      Volume: 30 Pages: 806-807

    • Data Source
      KAKENHI-PUBLICLY-23129505
  • [Journal Article] Transcription factor single-minded 2 (SIM2) is ubiquitinated by the RING-IBR-RING-type E3 ubiquitin ligases2005

    • Author(s)
      Okui M., Yamaki A, Takayanagi A, Kudoh J, Shimizu N, Shimizu Y
    • Journal Title

      Exp Cell Res (in press)

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14370323
  • [Journal Article] Transcription Factor Single-Minded 2 (SIM2) is ubiquitinated by the RING-IBR-RING-type E3 ubiquitin ligases2005

    • Author(s)
      Okui, M., Yamaki, A., Takayanagi, A., Kudoh, J., Shimizu, N., Shimizu, Y.
    • Journal Title

      Exp.Cell Res. (in press)

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14370323
  • [Journal Article] A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM22004

    • Author(s)
      Yamaki A, Kudoh J, Shimizu N, Shimizu Y
    • Journal Title

      Biochem Biophys Res Commun 313・3

      Pages: 482-488

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14370323
  • [Journal Article] A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM22004

    • Author(s)
      A Yamaki, J Kudoh, N Shimizu, Y Shimizu
    • Journal Title

      Biochem Biophys Res Commum 313・3

      Pages: 482-488

    • Data Source
      KAKENHI-PROJECT-14370323
  • [Journal Article] Deciphering human genome-chromosome 21 as an example, Disease-related genes(in Japanese)2004

    • Author(s)
      Kudoh, J., Shimizu, N.
    • Journal Title

      Molecular Medicine 41 special issue "Human Genome"

      Pages: 27-36

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16390307
  • [Journal Article] ヒトゲノムを読み解く-21番染色体を例に疾患関連遺伝子2004

    • Author(s)
      工藤純, 清水信義
    • Journal Title

      Molecular Medicine、臨時増刊号ヒトゲノム(中山書店) 41

      Pages: 27-36

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16390307
  • [Journal Article] A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM22004

    • Author(s)
      Yamaki, A., Kudoh, J., Shimizu, N., Shimizu, Y.
    • Journal Title

      Biochem.Biophys.Res.Commun. 313

      Pages: 482-488

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14370323
  • [Journal Article] Molecular mechanisms of human single-minded 2 (SIM2) gene expression : Identification of a promoter site in the SIM22001

    • Author(s)
      Yamaki, A., Tochigi, J., Kudoh, J., Minoshima, S., Shimizu, N., Shimizu, Y.
    • Journal Title

      Genomic Sequence, Gene 270

      Pages: 265-275

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14370323
  • [Journal Article] Molecular mechanisms of human single-minded 2 (SIM2) gene expression : Identification of a promoter site in the SIM2 genomic sequence2001

    • Author(s)
      Yamaki A, Tochigi J, Kudoh J, Minoshima S, Shimizu N, Shimizu Y
    • Journal Title

      GENE 270

      Pages: 265-275

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14370323
  • [Presentation] Mutations in SERPINB7, encoding a serine protease inhibitor, cause Nagashima-type palmoplantar keratosis2014

    • Author(s)
      Kubo, A. Shiohama, T. Sasaki, K. Nakabayashi, J. Kudoh, K. Hata, A. Umezawa, Y. Tokura, A. Ishiko, H. Niizeki, K. Kabashima, Y. Mitsuhashi, M. Amagai
    • Organizer
      2014 Society for Investigative Dermatology Annual Meeting
    • Place of Presentation
      Albuquerque, New Mexico, USA
    • Data Source
      KAKENHI-PUBLICLY-25129706
  • [Presentation] 長島型掌蹠角化症の原因遺伝子SERPINB7の同定と患者30例の変異解析2014

    • Author(s)
      久保 亮治、塩濱 愛子、佐々木 貴史、中林 一彦、奥山 虎之、小崎 健次郎、工藤 純、秦 健一郎、梅澤 明弘、戸倉 新樹、石河 晃、新関 寛徳、椛島 健治、三橋 善比古、天谷 雅行
    • Organizer
      第113回日本皮膚科学会総会
    • Place of Presentation
      国立京都国際会館
    • Data Source
      KAKENHI-PUBLICLY-25129706
  • [Presentation] Target-captured next generation sequencing of reported deafness genes reveals variability of genetic background of hereditary hearing loss in Japan.2013

    • Author(s)
      Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Kudoh J, Kosaki K, Matsunaga T
    • Organizer
      9th Molecular Biology of Hearing & Deafness Conference the Stanford School of Medicine in Stanford
    • Place of Presentation
      California, USA
    • Data Source
      KAKENHI-PROJECT-24390391
  • [Presentation] Target-captured next generation sequencing of reported deafness genes reveals variability of genetic background of hereditary hearing loss in Japan.2013

    • Author(s)
      Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Kudoh J, Kosaki K, Matsunaga T
    • Organizer
      9th Molecular Biology of Hearing & Deafness Conference the Stanford School of Medicine in Stanford
    • Place of Presentation
      California, USA
    • Data Source
      KAKENHI-PROJECT-24659753
  • [Presentation] ゲノム解析による遺伝性疾患の原因解明2012

    • Author(s)
      工藤 純
    • Organizer
      第16回九州基礎皮膚科研究会
    • Place of Presentation
      ホテルセントラーザ博多(福岡)
    • Year and Date
      2012-11-17
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-23129505
  • [Presentation] Identification of mutations in the prostaglandin transporter gene SLCO2A1 in Japanese patients with pachydermoperiostosis2012

    • Author(s)
      Jun Kudoh
    • Organizer
      American Society of Human Genetics 2012 Annual Meeting
    • Place of Presentation
      San Francisco, United States of America
    • Year and Date
      2012-11-07
    • Data Source
      KAKENHI-PUBLICLY-23129505
  • [Presentation] Rapid and efficient mutation detection in the hundreds of target genes by bench-top next generation sequencer with custom target capture method2012

    • Author(s)
      Shimizu A, Torii C, Suzuki N, Mutai H, Kudoh J, Kosaki R, Matsunaga T, Kosaki K
    • Organizer
      62nd Annual Meeting of the American Society of Human Genetics (ASHG)
    • Place of Presentation
      San Francisco, California, USA
    • Data Source
      KAKENHI-PROJECT-24659753
  • [Presentation] Novel method to produce partial trisomy mice using a human artificial chromosome (HAC); an application to Down syndrome.2009

    • Author(s)
      Kudoh J., Miyamoto K., Suzuki N., Sakai K., Asakawa S., Okazaki T., Shimizu N., Ikeno M.
    • Organizer
      The 59th Annual Meeting of ASHG
    • Place of Presentation
      Honolulu, Hawaii
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Novel method to produce partial trisomy mice using a human artificial chromosome(HAC) : an application to Down syndrome2009

    • Author(s)
      Jun Kudoh
    • Organizer
      第59回アメリカ人類遺伝学会
    • Place of Presentation
      ハワイ、ホノルル
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Production of mice harboring a human artificial chromosome (HAC) and expression of human genes in mouse tissues.2009

    • Author(s)
      Miyamoto K., Suzuki N., Sakai K., Asakawa S., Okazaki T., Shimizu N., Ikeno M., Kudoh J.
    • Organizer
      The 32nd Annual Meeting of the Molecular Biology Society of Japan
    • Place of Presentation
      Yokohama
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Production of Down syndrome mouse model harboring a human artificial chromosome (HAC) including a bacterial artificial chromosome (BAC).2009

    • Author(s)
      Miyamoto K., Suzuki N., Sakai K., Asakawa S., Okazaki T., Shimizu N., Ikeno M., Kudoh J.
    • Organizer
      The 54th Annual Meeting of the Japan Society of Human Genetics
    • Place of Presentation
      Shinagawa
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Identification of genes responsible for Down syndrome using mice harboring a human artificial chromosome (HAC).2008

    • Author(s)
      Miyamoto K., Suzuki N., Sakai K., Asakawa S., Okazaki T., Shimizu N., Ikeno M., Kudoh. F
    • Organizer
      G-COE Workshop
    • Place of Presentation
      Shinanomachi
    • Year and Date
      2008-02-29
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Expression of human genes on a human artificial chromosome (HAC) transduced into mice.2008

    • Author(s)
      Miyamoto K., Suzuki N., Sakai K., Asakawa S., Okazaki T., Shimizu N., Ikeno M., Kudoh J.
    • Organizer
      BMB2008 Biochemistry and Molecular Biology
    • Place of Presentation
      Kobe
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Production of Novel Down Syndrome Mouse Model using Human Artificial Chromosome (HAC).2007

    • Author(s)
      Kudoh J., Miyamoto K., Suzuki N., Sakai K., Asakawa S., Okazaki T., Shimizu N., Ikeno M.
    • Organizer
      Expert Workshop on the Biology of Chromosome 21 Genes
    • Place of Presentation
      Washington D.C.
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] ヒト人工染色体(HAC)導入マウスを用いたダウン症原因遺伝子の解明2007

    • Author(s)
      宮本 憲一、鈴木 伸卓、堺 弘介、浅川 修一、岡崎 恒子、清水 信義、池野 正史、工藤 純
    • Organizer
      BMB2007(第30回日本分子生物学会年会・第80回日本生化学会大会 合同大会)
    • Place of Presentation
      横浜
    • Year and Date
      2007-12-13
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Production of Novel Down Syndrome Mouse Model using Human Artificial Chromosome(HAC)2007

    • Author(s)
      Kudoh J, Miyamoto K, Suzuki N, Sakai K, Asakawa S, Okazaki T, Shimizu N, Ikeno M
    • Organizer
      Expert Workshop on the Biology of Chromosome 21 Genes:Towards Gene-phenotype Correlations in Down Syndrome
    • Place of Presentation
      ワシントンDC,USA
    • Data Source
      KAKENHI-PROJECT-19209038
  • [Presentation] Identification of genes responsible for Down syndrome using mice harboring a human artificial chromosome (HAC).2007

    • Author(s)
      Miyamoto K., Suzuki N., Sakai K., Asakawa S., Okazaki T., Shimizu N., Ikeno M., Kudoh
    • Organizer
      BMB2007 Biochemistry and Molecular Biology
    • Place of Presentation
      Yokohama
    • Data Source
      KAKENHI-PROJECT-19209038
  • 1.  SHIMIZU Nobuyoshi (50162706)
    # of Collaborated Projects: 14 results
    # of Collaborated Products: 9 results
  • 2.  MINOSHIMA Shinsei (90181966)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 0 results
  • 3.  MASHIMA Yukihiko (40157186)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 0 results
  • 4.  ASAKAWA Shuichi (30231872)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 9 results
  • 5.  OHTAKE Yuichirou (30233159)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 0 results
  • 6.  IWATA Takeshi
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 7.  IMAMURA Yutaka (20276215)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 8.  SHIBUYA Kazunori (90296723)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 9.  SAKAI Kosuke (70245463)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 9 results
  • 10.  MATSUNAGA Tatsuo (90245580)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 7 results
  • 11.  MIYA Fuyuki (50415311)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 12.  MUTAI Hideki (60415891)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 5 results
  • 13.  SUZUKI Naohiro (90611195)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 5 results
  • 14.  SHIMIZU Atsushi (30327655)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 5 results
  • 15.  HASHIMOTO Takashi (20129597)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 16.  NISHIKAWA Takeji (50051579)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 17.  TAKAYANAGI Atsushi (80245464)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 18.  平井 雅道 (10168635)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 19.  IKENO Masashi (80298546)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 20.  SHIMOJIMA Naoki (30317151)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  KURODA Tatsuo (60170130)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 22.  SHIBATE Shinsuke (70407089)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  OKANO Hideyuki (60160694)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  KOSAKI Kenjiro (30234743)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  FUJIMURA Takumi (80573443)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  MATSUO Nobutake (50173802)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  ARAKI Kiyoshi (60167997)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  TAMAI Shinya (80171883)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 29.  TANAKA Masaru (40188339)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 30.  KAWASAKI Kazuhiko (90245465)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 31.  KUBOTA Ryo (00276338)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 32.  NAGAFUCHI Seiho (00150441)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 33.  SAKAGUCHI Shimon (30280770)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 34.  KUROSAKA Daijirou (20215099)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 35.  SHIMIZU Yoshiko (50255410)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 7 results
  • 36.  MATSUDA Takao (10304825)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 37.  TAMURA Takashi (70146554)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 38.  YAMAKI Akiko (40296546)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 7 results
  • 39.  TANLNO Tomihiko (50217147)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 40.  TANI Kenji (00365420)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 41.  ITO Fumiaki (80111764)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 42.  FUNAKOSHI Eishi (70299030)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 43.  Ishikawa Kazushi (80600452)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 44.  中村 裕 (90198242)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 45.  海老原 全 (90203653)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 46.  高橋 弘毅 (20255524)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 47.  佐賀 正道 (00245557)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 48.  陳 嘉竝 (10296725)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 49.  島田 浩光 (70330826)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 50.  OKAZAKI Tuneko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 51.  SUZUKI Nobutaka
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 52.  MIYAMOTO Kenichi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 53.  ANTONARAKIS スティタアノス
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 54.  ANTONARAKIS Stylianos
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 55.  ANTONARAKIS エス
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 56.  MCDERMID He
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 57.  KOLA Ismail
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 58.  ANTONARAKIS スティリアノス
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 59.  EMANUEL Bev
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 60.  久保 亮治
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 61.  天谷 雅行
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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