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MINOSHIMA Shinsei  蓑島 伸生

ORCIDConnect your ORCID iD *help
… Alternative Names

蓑島 伸生  ミノシマ シンセイ

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Researcher Number 90181966
External Links
Affiliation (based on the past Project Information) *help 2015 – 2018: 浜松医科大学, 光尖端医学教育研究センター, 教授
2011 – 2014: 浜松医科大学, メディカルフォトニクス研究センター, 教授
2012: 浜松医科大学, 学内共同利用施設等, 教授
2003 – 2011: 浜松医科大学, 光量子医学研究センター, 教授
2007: Hamamatsu University School of Medicine, 光量子医学研究センター(光環境医学研究分野), 教授 … More
2004: 国立大学法人浜松医科大学, 光量子医学研究センター, 教授
1999 – 2002: 慶應義塾大学, 医学部, 助教授
1997: Keio University, School of Medicine, Assistant professor, 医学部・講師(現 助教授)
1992 – 1997: 慶應義塾大学, 医学部, 講師
1996: 慶大, 医学部, 講師
1990: 慶應義塾大学, 医学部, 助手
1989: 慶応義塾大学, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Ophthalmology / Biological Sciences / Pediatrics / Neurosurgery
Except Principal Investigator
Ophthalmology / Dermatology / Endocrinology / Pediatrics / Psychiatric science / Psychiatric science
Keywords
Principal Investigator
BAC / BACライブラリー / データベース / 遺伝子変異 / 知識ベース / exon prediction / gene / genomic sequencing / cosmid contig / BAC library … More / region specific cosmid library / marker chromosome / cat eye syndrome / 猫目症候群 / ゲノミックシーケンシング / コスミドコンティグ / コスミドライブラリー / 遺伝子予測 / ゲノミック シーケンシング / コスミド コンティグ / 領域特異的コスミドライブラリー / マーカー染色体 / 猫眼症候群 / ゲノム / 遺伝学 / 遺伝性眼疾患 / 単一遺伝子疾患 / 多型 / 遺伝子疾患 / 悪性転化 / グリオブラストーマ / 低悪性度グリオーマ / SV40 Large T antigen / transgenic mice / transducine / tumor / cultured cell / rod / cone / Photoreceotor / ロドプシン / 色覚オプシン / 培養系 / SV40 LargeT抗原 / トランスジェニックマウス / トランスデューシン / 癌化 / 培養細胞系 / 杆体 / 錐体 / 視細胞 / knowledge-base / hereditary skin diseases / hereditary eve diseases / polymorphism / multifactorial disease / database / mutation / monogenic disease / オンライン / グラフィカル / 変異 / 疾患遺伝子 / 遺伝性皮膚疾患 / 遺伝子多型 / 多因子疾患 / Segmental Duplication / Low Copy Repeat / 8p23.1 duplication syndrome / Williams syndrome / Comparative genome analysis / Chromosomal duplication / Chromosomal micro-deletion / Human genome / ヒトゲノム概要塩基配列 / 隣接遺伝子症候群 / 低頻度反復配列 / ヒトゲノム塩基配列 / 染色体部分欠失 / ウイリアムズ症候群 / Segmental duplication / Low copy repeat / 8p23.1 duplication症候群 / ウィリアムズ症候群 / 比較ゲノム解析 / 染色体重複 / 染色体微小欠失 / ヒトゲノム / congenital heart malformations / 先天性心奇形症候群 / 領域特異的コスミドライブライリ / 先天性心臓奇形症候群 / congenital malformations / エキソントラッピング / STS化 / YACコンティグ / 染色体ソーティング / 先天性奇形症候群 / 高眼圧症 / 重複 / 欠失 / マイクロアレイ / ゲノムワイド解析 / CNV / コピー数多型 / 正常眼圧緑内障 / 開放隅角緑内障 / アポトーシス / 網膜光傷害 / ラット / 鉄応答エレメント / 鉄イオン / 加齢黄斑変性症 / 分子進化 / 遺伝子重複 / ゲノム解析 / 分裂装置 / YPELファミリー遺伝子 / 中心体 / 細胞分裂 / バーデット・ビードル症候群 / 拡張候補遺伝子アプローチ / モデル動物 / 原因遺伝子 / 脳神経疾患 / 情報工学 / 遺伝子 / 加齢黄斑変性 / 緑内障 / 光関連疾患 / 拡張侯補遺伝子アプローチ / ゲノム悉皆解析法 / MutationView / 疾患関連多型 / 疾患の遺伝的背景 / 生活習慣病 / 分散データベース / 突然変異 … More
Except Principal Investigator
第21染色体 / CBP / AIRE / APS-1 / APECED / トランスジェニックマウス / 自己免疫疾患 / 転写調節因子 / exon trapping / BAC / YAC / エキソントラッピング / EPM1 / 次世代シークエンサー / 遺伝子変異解析 / 遺伝子診断 / 網膜色素変性 / ラット / 戻し交配 / 加齢黄斑変性 / 連続戻し交配 / 網膜光障害 / パルスフィ-ルド電気泳動 / セルソ-タ- / テーラーメード医療 / 眼遺伝学 / レーバー先天盲 / 遺伝子解析 / Leber先天盲 / 先天性視覚障害 / ucomplementation group / xeroderma pigmentosum / Ultraviolet / DNA damage / DNA repair / 体細胞ハイブリッド / マイクロアレイ / 色素性患皮症 / 相補性群 / 色素性乾皮症 / 紫外線 / DNA損傷 / DNA修復 / 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 / Genetic diseases / Pathway / Molecular interactions / Network / Database / Protein structure prediction / Gene function prediction / Genome analysis / 配列解析 / 遺伝子疾患 / パスウェイ / 分子間相互作用 / ネットワーク / データベース / タンパク質立体構造予測 / 遺伝子機能予測 / ゲノム解析 / immune tolerance / autoimmune disease / morphogenesis / transcription factor / cDNA screening / genome sequencing / 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 / 心臓障害 / 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 / コスミド / ミオクローヌスてんかん / 遺伝病 / 21番染色体 / 遺伝性網膜変性 / 光 / 感受性遺伝子 / 網膜変性 / 次世代シーケンサー / エキソーム解析 / 責任遺伝子 / 系統差 / RPE65 / 常染色体劣性遺伝 / 遺伝子変異 / 遺伝学 / USH2A / EYS / 変異解析 / 常染色体劣性 / 感受性 / 1塩基多型 / アポトーシス / 多型解析 / モリス水迷路 / Copy number variation / コホート研究 / サイトカイン / バイオマーカー / 自閉症 / 児童・思春期精神医学 / 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 / 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

    (25 results)
  • Research Products

    (125 results)
  • Co-Researchers

    (63 People)
  •  Development of diagnosis program and clinical application with congenital visual impairment patients for tailor-made medicine

    • Principal Investigator
      Hosono Katsuhiro
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Exome analysis of glioma malignant transformation mutation and development of differentiation method by blood secretory vesicle analysisPrincipal Investigator

    • Principal Investigator
      Minoshima Shinsei
    • Project Period (FY)
      2015 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurosurgery
    • Research Institution
      Hamamatsu University School of Medicine
  •  Development of genetic diagnosis for Japanese Retinitis Pigmentosa patients using next generation sequencer

    • Principal Investigator
      Hotta Yoshihiro
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Investigation of a new mechanism of age-related macular degeneration using a rat model of retinal photic injury: targeted exome analysis for a responsible genomic region

    • Principal Investigator
      Ohishi Kentaro
    • Project Period (FY)
      2013 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Genetic Diagnosis System for Retinitis Pigmentosa Patients: Large-scale collection and mutation analyses of Japanese RP patients

    • Principal Investigator
      HOTTA YOSHIHIRO
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Investigation for the genetic factor of glaucoma in another viewpoint: an analysis of possible involvement of copy number variation (CNV) in genomePrincipal Investigator

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  A study on the development of biological "veryearly"diagnosis of autism

    • Principal Investigator
      MORI Norio
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Psychiatric science
    • Research Institution
      Hamamatsu University School of Medicine
  •  Identification of candidate genes responsible for an increased susceptibility of age-related macular degeneration using an animal model and its application to gene diagnosis.

    • Principal Investigator
      OHISHI Kentaro
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  網膜での光受容に鉄が果たす新たな機能の追究-加齢黄斑変性の発症機序解明に向けて-Principal Investigator

    • Principal Investigator
      蓑島 伸生
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Exploration of disease-causative and -associated genes and prospect of novel molecular/cellular phenomenonPrincipal Investigator

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2005 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Hamamatsu University School of Medicine
  •  真核生物で高度に保存された新規細胞分裂関連タンパク質YPELファミリーの機能追究Principal Investigator

    • Principal Investigator
      蓑島 伸生
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Establishment of immortalized culture-cells derived from cone and rod photoreceptors and construction of in vitro model system of retinal diseasesPrincipal Investigator

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2005 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Ophthalmology
    • Research Institution
      Hamamatsu University School of Medicine
  •  Possible new complementation group of xeroderma pigmentosum

    • Principal Investigator
      MORIWAKI Shinichi
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Dermatology
    • Research Institution
      Osaka Medical College
  •  Construction of an integrated knowledge-base for mutations in disease-responsible genes and polymorphisms in disease-related genesPrincipal Investigator

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2002 – 2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Hamamatsu University School of Medicine
      Keio University
  •  疾患遺伝子変異と疾患関連多型の総合知識ベースの構築Principal Investigator

    • Principal Investigator
      蓑島 伸生
    • Project Period (FY)
      2001
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • Research Institution
      Keio University
  •  Fine analysis of low copy repeat sequences which cause diseases by chromosomal microdeletion/microduplication and complete identification of content genes within themPrincipal Investigator

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  疾患遺伝子変異と疾患関連多型の総合知識ベースの構築Principal Investigator

    • Principal Investigator
      蓑島 伸生
    • Project Period (FY)
      2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • 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
  •  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
  •  Biological Knowledge Based on Genome Information

    • Principal Investigator
      KANEHISA Minoru
    • Project Period (FY)
      1996 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (A)
    • Research Institution
      KYOTO UNIVERSITY
  •  Cloning of disease-causing genes for the syndrome with congenital heart malformationsPrincipal Investigator

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  Positional cloning of the genes related to malformations of eye, anus and heartPrincipal Investigator

    • Principal Investigator
      MINOSHIMA Shinsei
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  Isolation of the Gene for Progressive Myoclonus Epilepsy (EPM1)

    • 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
  •  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

All 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 2001 2000 Other

All Journal Article Presentation Book

  • [Book] 「疾患遺伝子変異知識ベースMutationViewバージョン1.2」遺伝子医学(5巻13号pp140-146)2001

    • Author(s)
      蓑島伸生
    • Total Pages
      7
    • Publisher
      メディカルドゥー
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Book] 「遺伝子疾患変異知識ベースMutationViewの構築」医学のあゆみ197巻13号pp970-9782001

    • Author(s)
      蓑島伸生
    • Total Pages
      9
    • Publisher
      医歯薬出版
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Book] 「疾患遺伝子変異知識ベースMutationView/KMDBの構築」遺伝子医学(4巻3号pp384-389)2000

    • Author(s)
      蓑島伸生
    • Total Pages
      6
    • Publisher
      メディカルドゥー
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Journal Article] Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono Katsuhiro、Nishina Sachiko、Yokoi Tadashi、Katagiri Satoshi、Saitsu Hirotomo、Kurata Kentaro、Miyamichi Daisuke、Hikoya Akiko、Mizobuchi Kei、Nakano Tadashi、Minoshima Shinsei、Fukami Maki、Kondo Hiroyuki、Sato Miho、Hayashi Takaaki、Azuma Noriyuki、Hotta Yoshihiro
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 8279-8279

    • DOI

      10.1038/s41598-018-26524-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11434, KAKENHI-PROJECT-17K11441, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479, KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-16K11309
  • [Journal Article] Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations2018

    • Author(s)
      Kurata Kentaro、Hosono Katsuhiro、Hikoya Akiko、Kato Akihiko、Saitsu Hirotomo、Minoshima Shinsei、Ogata Tsutomu、Hotta Yoshihiro
    • Journal Title

      Japanese Journal of Ophthalmology

      Volume: 62 Issue: 4 Pages: 458-466

    • DOI

      10.1007/s10384-018-0591-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-16K11284
  • [Journal Article] Retinitis pigmentosa in Japanese population2017

    • Author(s)
      Hosono K, Minoshima S, Hotta Y
    • Journal Title

      Essentials in Ophthalmology Advances in Vision Research

      Volume: volume I Pages: 111-128

    • DOI

      10.1007/978-4-431-56511-6_11

    • ISBN
      9784431565093, 9784431565116
    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-17K11447
  • [Journal Article] Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations2017

    • Author(s)
      Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta K, Minoshima S and Hotta Y
    • Journal Title

      Semin. Ophthalmol.

      Volume: 印刷中 Issue: 4 Pages: 560-565

    • DOI

      10.1080/08820538.2017.1340487

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284, KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479
  • [Journal Article] Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.2016

    • Author(s)
      Wang C, Hosono K, Kachi S, Suto K, Nakamura M, Terasaki H, Miyake Y, Hotta Y, Minoshima S.
    • Journal Title

      Hum Genome Var.

      Volume: 3 Issue: 1 Pages: 16011-16011

    • DOI

      10.1038/hgv.2016.11

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-15H04994, KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-16K11284
  • [Journal Article] Novel GUCY2D gene mutations in Japanese male twins with Leber congenital amaurosis2015

    • Author(s)
      Hosono K, Harada Y, Kurata K, Hikoya A, Sato M, Minoshima S, Hotta Y.
    • Journal Title

      J. Ophthalmol.

      Volume: 693468 Pages: 1-10

    • DOI

      10.1155/2015/693468

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene2014

    • Author(s)
      Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y
    • Journal Title

      Ophthalmic Genet

      Volume: 35 Pages: 25-34

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology.2014

    • Author(s)
      Gao J, Ohtsubo M*, Hotta Y, Minoshima S. (*Corresponding Author)
    • Journal Title

      PlosOne

      Volume: 9(7) Issue: 7 Pages: e101206-e101206

    • DOI

      10.1371/journal.pone.0101206

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24592622, KAKENHI-PROJECT-26462659
  • [Journal Article] Interaction between optineurin and the bZIP transcription factor NRL2014

    • Author(s)
      Wang C, Hosono K, Ohtsubo M, Ohishi K, Gao J, Nakanishi N, Hikoya A, Sato M, Hotta Y, Minoshima S.
    • Journal Title

      Cell Biol. Int.

      Volume: 38(1) Issue: 1 Pages: 16-25

    • DOI

      10.1002/cbin.10174

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592562, KAKENHI-PROJECT-24592622, KAKENHI-PROJECT-25462708, KAKENHI-PROJECT-25861626
  • [Journal Article] The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.2014

    • Author(s)
      Yang Zhao, Katsuhiro Hosono, Kimiko Suto, Chie Ishigami, Yuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, Yoshihiro Hotta.
    • Journal Title

      J Hum Genet.

      Volume: 59 Issue: 9 Pages: 521-528

    • DOI

      10.1038/jhg.2014.65

    • NAID

      40020198536

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25861626, KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-26462683
  • [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene2014

    • Author(s)
      Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y.
    • Journal Title

      Ophthalmic Genet.

      Volume: 35(1) Issue: 1 Pages: 25-34

    • DOI

      10.3109/13816810.2013.768673

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592603, KAKENHI-PROJECT-25861626
  • [Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene.2013

    • Author(s)
      Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y.
    • Journal Title

      Ophthalmic Genetics

      Volume: early on line Pages: 1-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population2012

    • Author(s)
      Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Fujita T, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y et al
    • Journal Title

      PLoS One

      Volume: 7(2):e31036 Pages: 1-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] Two Novel Mutations in the EYS Gene Are Possible Major Causes of Autosomal Recessive Retinitis Pigmentosa in the Japanese Population.2012

    • Author(s)
      Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima M, Hotta Y.
    • Journal Title

      PLoS One

      Volume: 7(2) Issue: 2 Pages: e31036-e31036

    • DOI

      10.1371/journal.pone.0031036

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22390327, KAKENHI-PROJECT-22591975, KAKENHI-PROJECT-23390401, KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592562, KAKENHI-PROJECT-23592603, KAKENHI-PROJECT-23791975, KAKENHI-PROJECT-24659770
  • [Journal Article] Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes2012

    • Author(s)
      Thanseem I, Anitha A, Nakamura K, Suda S, Iwata K, Matsuzaki H, Ohtsubo M, Ueki T, Katayama T, Iwata Y, Suzuki K, Minoshima S, Mori N
    • Journal Title

      Biol Psychiatry

      Volume: 71(5) Pages: 410-8

    • Data Source
      KAKENHI-PROJECT-22390222
  • [Journal Article] Prediction of protein-destabilizing polymorphisms by manual curation with protein structure.2012

    • Author(s)
      Gough CA, Homma K, Yamaguchi-Kabata Y, Shimada MK, Chakraborty R, Fujii Y, Iwama H, Minoshima S, Sakamoto S, Sato Y, Suzuki Y, Tada-Umezaki M, Nishikawa K, Imanishi T, Gojobori T.
    • Journal Title

      PLoS One

      Volume: 7 Issue: 11 Pages: e50445-e50445

    • DOI

      10.1371/journal.pone.0050445

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23570273, KAKENHI-PROJECT-23592562
  • [Journal Article] Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes.2012

    • Author(s)
      Thanseem I
    • Journal Title

      Biol Psychiatry

      Volume: 71 Issue: 5 Pages: 410-8

    • DOI

      10.1016/j.biopsych.2011.09.020

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390288, KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592562, KAKENHI-PROJECT-23791323
  • [Journal Article] Clinical features of a Japanese case with Bothnia dystrophy2012

    • Author(s)
      Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M. Kondo M, Minoshima S, Hotta Y
    • Journal Title

      Ophthalmic Genet

      Volume: 33(2) Issue: 2 Pages: 83-88

    • DOI

      10.3109/13816810.2011.634877

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23592562, KAKENHI-PROJECT-23592603, KAKENHI-PROJECT-23791975
  • [Journal Article] A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis.2012

    • Author(s)
      Izumiyama T, Minoshima S, Yoshida T, Shimizu N.
    • Journal Title

      Gene

      Volume: 511 Issue: 2 Pages: 202-17

    • DOI

      10.1016/j.gene.2012.09.061

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] New computer-aided diagnosis of dementia using positron emission tomography : brain regional sensitivity-mapping method2011

    • Author(s)
      Kakimoto A, Kamekawa Y, 他 5 人 Ouchi Y
    • Journal Title

      PLoS One

      Volume: 6(9) Issue: 9 Pages: e25033-e25033

    • DOI

      10.1371/journal.pone.0025033

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390287, KAKENHI-PROJECT-23592561, KAKENHI-PROJECT-23659562
  • [Journal Article] A case of aniridia with unilateral Peters anomaly2011

    • Author(s)
      Sawada M, Sato M, Hikoya A, Wang C-X, Minoshima S, Azuma N, Hotta Y
    • Journal Title

      J AAPOS

      Volume: 15(1) Issue: 1 Pages: 104-106

    • DOI

      10.1016/j.jaapos.2010.11.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Journal Article] Novel USH2A mutations in Japanese Usher syndrome type 2 patients : marked differences in the mutation spectrum between the Japanese and other populations2011

    • Author(s)
      中西啓
    • Journal Title

      Journal of Human Genetics

      Volume: 56 Issue: 7 Pages: 484-490

    • DOI

      10.1038/jhg.2011.45

    • NAID

      10030659974

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22791589, KAKENHI-PROJECT-23592561
  • [Journal Article] Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations2011

    • Author(s)
      Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, Mineta H, Minoshima S
    • Journal Title

      J Hum Genet

      Volume: 56(7) Pages: 484-490

    • NAID

      10030659974

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Journal Article] A Graphical Database of Mutations in Genes That Cause Eye Diseases.2010

    • Author(s)
      Kawamura, T., Ohtsubo, M., Mitsuyama, S., Ohno-Nakamura, S., Shimizu, N., Minoshima, S. KMeyeDB
    • Journal Title

      Hum. Mutat. 31(6)

      Pages: 667-74

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.2009

    • Author(s)
      Nakanishi, H., Ohtsubo, M., Iwasaki, S., Hotta, Y., Mizuta, K., Mineta, H., Minoshima, S.
    • Journal Title

      Clin. Genet. 76(4)

      Pages: 383-91

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Distribution and effects of nonsense polymorphisms in human genes.2008

    • Author(s)
      Yamaguchi-Kabata, Y., Shimada, M.K., Hayakawa, Y., Minoshima, S., Chakraborty, R., Gojobori, T., Imanishi, T.
    • Journal Title

      PLoS ONE 3(10)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] 分子遺伝学的検査により確定診断し得たBest病の一例2008

    • Author(s)
      王春霞、小出健郎、細野克博、中西伸夫、蓑島伸生、堀田喜裕
    • Journal Title

      臨床眼科 62(9)

      Pages: 1563-1567

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Genome Information Integration Project and H-Invitational 2 (2008): The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts.2008

    • Author(s)
      Minoshima, S., Ohtsubo, M.
    • Journal Title

      Nucleic Acids Res.

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.2008

    • Author(s)
      Wang, C., Nakanishi, N., Hikoya, A., Koide, K., Ohishi, K., Sato, M., Nakamura, M., Hotta, Y., Minoshima, S.
    • Journal Title

      Ophthalmic Genet 29(1)

      Pages: 29-32

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Identification of three novel proteins (SGSM1, 2, 3) which modulate small G protein (RAP and RAB)-mediated signaling pathway.2007

    • Author(s)
      Yang, H., Sasaki, T., Minoshima, S.,, Shimizu, N.
    • Journal Title

      Genomics 90

      Pages: 249-260

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Nucleolar localization of DGCR8 and identification of eleven DGCR8-associated proteins.2007

    • Author(s)
      Shiohama, A., Sasaki, T., Noda, S., Minoshima, S.,, Shimizu, N.
    • Journal Title

      Exp. Cell Res. 313(20)

      Pages: 4196-207

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Three novel mutations of PAX6 gene in Japanese aniridia patients.2007

    • Author(s)
      Kawano, T., Wang, C., Hotta, Y., Sato, M., Iwata-Amano, E., Hikoya, A., Fujita, N., Koyama, N., Shirai, S., Azuma, N., Ohtsubo, M., Shimizu, N., Minoshima, S.
    • Journal Title

      J. Hum. Genet. 52(7)

      Pages: 571-574

    • NAID

      40015454165

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] MutationView/KMcamcer DB: a database for cancer gene mutations.2007

    • Author(s)
      Shimizu, N., Ohtsubo, M., Minoshima, S.
    • Journal Title

      Cancer Sci. 98(3)

      Pages: 259-267

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Stable minihairpin structures forming at minisatellite DNA isolated from yellow fin sea bream Acanthopagrus latus.2007

    • Author(s)
      Kato, M., Haku, T., Hibino, T., Fukada, H., Mishima, Y., Yamashita, I., Minoshima, S., Nagayama, K., Shimizu, N.
    • Journal Title

      Comp. Biochem. Physiol. Biochem. Mol. Biol. 146(3)

      Pages: 427-37

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] DNA Sequence and Analysis of Human Chromosome 8.2005

    • Author(s)
      Nusbaum, C., Mikkelsen, T.S., Zody, M.C., -, Minoshima, S., et al.
    • Journal Title

      Nature 439

      Pages: 331-335

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Journal Article] Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species.2004

    • Author(s)
      Hosono, K., Sasaki, T., Minoshima, S., Shimizu, N.
    • Journal Title

      Gene 340

      Pages: 31-43

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Journal Article] Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region.2003

    • Author(s)
      Shiohama, A., Sasaki, T., Noda, S., Minoshima, S., Shimizu, N.
    • Journal Title

      Biochem. Biophys. Res. Commun. 304(1)

      Pages: 184-190

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Journal Article] Role of TBX1 in human de122q11.2 syndrome.2003

    • Author(s)
      Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S., Kamatani, N., Momma, K., Takao, A., Nakazawa, M., Shimizu, N., Matsuoka, R.
    • Journal Title

      Lancet 362(9393)

      Pages: 1366-1373

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Journal Article] Identification of eight members of the Argonaute family in the human genome.2003

    • Author(s)
      Sasaki, T., Shiohama, A., Minoshima, S., Shimizu, N.
    • Journal Title

      Genomics 82(3)

      Pages: 323-330

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Journal Article] The KMDB/MutationView : a mutation database for human disease genes.2001

    • Author(s)
      Minoshima, S.
    • Journal Title

      Nucleic Acids Res. 29

      Pages: 327-328

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Journal Article] The KMDB/Mutation View : a mutation database for human disease genes.2001

    • Author(s)
      Minoshima, S., Mitsuyama, S., Ohtsubo, M., Kawamura, T., Ito, S., Shibamoto, S., Ito, F., Shimizu, N.
    • Journal Title

      Nucleic Acids Res. 29

      Pages: 327-328

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-14013053
  • [Journal Article] Oligomerization of Optineurin and Its Oxidative Stress- or E50K Mutation-Driven Covalent Cross-Linking : Possible Relationship with Glaucoma Pathology

    • Author(s)
      Gao J, Ohtsubo M, Hotta Y, Minoshima S
    • Journal Title

      PLoS ONE

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23592562
  • [Presentation] 日本人錐体桿体ジストロフィー家系から検出された新規変異と文献情報を併用した遺伝子型-表現型関連解析2018

    • Author(s)
      Nazmul Haque、大坪正史、細野克博、倉田健太郎、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第25回日本遺伝子診療学会大会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] CDHR1遺伝子に新規変異を認めた日本人錐体杆体ジストロフィー成人発症兄妹例2018

    • Author(s)
      Nazmul Haque、倉田健太郎、細野克博、大坪正史、大石健太郎、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第72回日本臨床眼科学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 日本人Leber先天盲の次世代シークエンサーによる遺伝子変異解析2018

    • Author(s)
      細野克博、仁科幸子、林孝彰、倉田健太郎、横井匡、片桐聡、宮道大督、溝渕圭、佐藤美保、蓑島伸生、深見真紀、中野匡、近藤寛之、東範行、堀田喜裕
    • Organizer
      第122回日本眼科学会総会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Mutation Analysis of Japanese Patients with Leber Congenital Amaurosis by Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Kurata K, Miyamichi D, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      ARVO2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Molecular Analysis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018

    • Author(s)
      Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
    • Organizer
      日本人類遺伝学会第63回大会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] レーバー先天盲の日本人患者に対する次世代シークエンサーを用いた遺伝子診断2017

    • Author(s)
      細野克博、仁科幸子、倉田健太郎、宮道大督、横井匡、蓑島伸生、深見真紀、佐藤美保、近藤寛之、堀田喜裕
    • Organizer
      第121回日本眼科学会
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 次世代シークエンサーの登場により遺伝性網膜変性の変異解析は大きく進歩した2017

    • Author(s)
      細野克博、蓑島伸生、堀田喜裕
    • Organizer
      第121回日本眼科学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Changes in Macular Structure and Retinal Function in Patients with Leber Congenital Amaurosis with RPGRIP1 Mutations2017

    • Author(s)
      Daisuke Miyamichi, Sachiko Nishina, Katsuhiro Hosono, Tadashi Yokoi, Kentaro Kurata, Miho Sato, Shinsei Minoshima, Maki Fukami, Yoshihiro Hotta, Noriyuki Azuma
    • Organizer
      ARVO
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 次世代シークエンサーを用いたレーバー先天盲の1家系3症例の遺伝子変異解析とその臨床像2017

    • Author(s)
      細野克博、仁科幸子、宮道大督、横井匡、倉田健太郎、彦谷明子、蓑島伸生、佐藤美保、深見真紀、堀田喜裕、東範行
    • Organizer
      第22回浜松医科学シンポジウム
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] Fine genomic analysis of deletion mutations in the locus control region of OPN1LW/OPN1MW genes in 2 Japanese families with blue cone monochromacy2016

    • Author(s)
      Katsuhiro Hosono, Chunxia Wang, Shu Kachi, Kentaro Kurata, Kimiko Suto, Makoto Nakamura, Hiroko Terasaki, Yozo Miyake, Yoshihiro Hotta, Shinsei Minoshima
    • Organizer
      XXII Biennial Meeting of the International Society for Eye Research
    • Place of Presentation
      東京
    • Year and Date
      2016-09-25
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] Fine genomic analysis of deletion mutations in the locus control region of OPN1LW/OPN1MW genes in 2 Japanese families with blue cone monochromacy2016

    • Author(s)
      Katsuhiro Hosono, Chunxia Wang, Shu Kachi, Kentaro Kurata, Kimiko Suto, Makoto Nakamura, Hiroko Terasaki, Yozo Miyake, Yoshihiro Hotta, Shinsei Minoshima
    • Organizer
      XXII Biennial Meeting of the International Society for Eye Research
    • Place of Presentation
      東京
    • Year and Date
      2016-09-25
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] 次世代シークエンサーを用いたレーバー先天盲の1家系3症例の遺伝子変異解析2016

    • Author(s)
      細野克博、仁科幸子、宮道大督、横井匡、彦谷明子、佐藤美保、蓑島伸生、深見真紀、東範行、堀田喜裕
    • Organizer
      第41回日本小児眼科学会
    • Place of Presentation
      横浜
    • Year and Date
      2016-06-24
    • Data Source
      KAKENHI-PROJECT-16K11284
  • [Presentation] ラット網膜光障害の感受性遺伝子領域の領域限定エキソーム解析2016

    • Author(s)
      大石健太郎、大坪正史、細野克博、尾花 明、堀田喜裕、蓑島伸生
    • Organizer
      日本眼科学会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] 次世代シークエンサーを用いたレーバー先天盲の1家系3症例の遺伝子変異解析2016

    • Author(s)
      細野克博、仁科幸子、宮道大督、横井匡、彦谷明子、佐藤美保、蓑島伸生、深見真紀、東範行、堀田喜裕
    • Organizer
      第41回日本小児眼科学会
    • Place of Presentation
      横浜
    • Year and Date
      2016-06-24
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] RPGRIP1遺伝子異常によるレーバー先天盲の1家系3症例の臨床像2016

    • Author(s)
      宮道大督、仁科幸子、細野克博、横井匡、倉田健太郎、彦谷明子、蓑島伸生、佐藤美保、深見真紀、堀田喜裕、東範行
    • Organizer
      第55回日本網膜硝子体学会総会
    • Place of Presentation
      東京
    • Year and Date
      2016-12-02
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] ラット網膜光障害感受性を支配する遺伝子多型の探索2016

    • Author(s)
      大石健太郎,大坪正史,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第39回日本分子生物学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2016-11-30
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] ラット網膜光障害の感受性遺伝子領域の領域限定エキソーム解析2016

    • Author(s)
      大石健太郎,大坪正史,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第120回日本眼科学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2016-04-07
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] ラット網膜光障害感受性の責任遺伝子(Rpi1) 領域の限局化2015

    • Author(s)
      大石健太郎、細野克博、尾花 明、堀田喜裕、平光忠久、蓑島伸生
    • Organizer
      BMB2015
    • Place of Presentation
      神戸
    • Year and Date
      2015-12-01
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] レーバー先天盲の(二卵性)双生児の次世代シークエンサーを用いた遺伝子変異解析2015

    • Author(s)
      細野克博、佐藤美保、原田祐子、倉田健太郎、彦谷明子、蓑島伸生、堀田喜裕
    • Organizer
      第71回日本弱視斜視学会総会/第40回日本小児眼科学会総会
    • Place of Presentation
      神戸
    • Year and Date
      2015-07-03
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 常染色体劣性網膜色素変性患者におけるEYS遺伝子各エキソンのコピー数変異解析2015

    • Author(s)
      細野克博、蓑島伸生、彦谷明子、佐藤美保、堀田喜裕
    • Organizer
      第119回日本眼科学会総会
    • Place of Presentation
      札幌
    • Year and Date
      2015-04-16
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 加齢黄斑変性と網膜光障害の関連遺伝子の追究: 易罹患性診断への応用を目指して2015

    • Author(s)
      大石健太郎、細野克博、尾花 明、堀田喜裕、平光忠久、蓑島伸生
    • Organizer
      日本遺伝子診療学会
    • Place of Presentation
      横浜
    • Year and Date
      2015-07-18
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] Visual Outcomes of Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations2015

    • Author(s)
      Suto K, Hosono K, Nagase Y, Nakanishi H, Mizuta K, Minoshima S, Hotta Y
    • Organizer
      ARVO 2015
    • Place of Presentation
      Denver
    • Year and Date
      2015-05-03
    • Invited
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] Three Japanese Cases with Autosomal Recessive Retinitis Pigmentosa associated with the USH2A Gene Mutation2013

    • Author(s)
      Hotta Y, Hosono K, Suto K, Sato M, Mizuta K, Minoshima S.
    • Organizer
      The 8th APVRS Congress
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] USH2A遺伝子異常を認めた非症候群性網膜色素変性の3症例2013

    • Author(s)
      趙 洋、細野克博、須藤希実子、永瀬康規、水田邦博、大坪正史、峯田周幸、蓑島伸生、堀田喜裕
    • Organizer
      第20回日本遺伝子診療学会大会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害感受性の責任遺伝子領域の限局化:加齢黄斑変性の易罹患性の遺伝子診断に向けて2013

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第20回日本遺伝子診療学会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] Wang C, Hosono K, kachi S, Terasaki H, Hotta Y, Minoshima S. Fine analysis of the deletions in red/green opsin genes and the upstream locus control region (LCR) found in two Japanese families with blue cone monochromacy (BCM)2013

    • Author(s)
      Wang C, Hosono K, kachi S, Terasaki H, Hotta Y, Minoshima S.
    • Organizer
      ARVO 2013
    • Place of Presentation
      シアトル
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] USH2A遺伝子異常を認めた非症候性網膜色素変性の3症例2013

    • Author(s)
      須藤希実子、細野克博、趙 洋、永瀬康規、水田邦博、峯田周幸、蓑島伸生、堀田喜裕
    • Organizer
      第67回日本臨床眼科学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 網膜色素変性と関連疾患におけるEYS遺伝子の2種類の変異の分子遺伝学的解析2013

    • Author(s)
      細野克博、石上智愛、高橋政代、朴 東浩、上野真治、萩原 章、山本修一、佐藤美保、寺﨑浩子、金 仁澤、東 範行、近藤峰生、蓑島伸生、堀田喜裕
    • Organizer
      第117回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Mapping Susceptibility Loci to Rat Retinal Photic Injury2013

    • Author(s)
      Ohishi, K., Hosono, K., Obana, A., Hotta, Y., Hiramitsu, T., Minoshima, T.
    • Organizer
      1st International Symposium on Blue Light Society
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] USH2A遺伝子異常を認めた網膜色素変性の3症例2013

    • Author(s)
      堀田喜裕、細野克博、趙 洋、須藤希実子、大坪正史、水田邦博、峯田周幸、蓑島伸生
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害の感受性に関与する遺伝子の追究2013

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第35回日本光医学・光生物学会
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] Three Japanese Cases with Autosomal Recessive Retinitis Pigmentosa associated with the USH2A Gene Mutation2013

    • Author(s)
      Hotta Y, Hosono K, Suto K, Sato M, Mizuta K, Minoshima S
    • Organizer
      APVRS
    • Place of Presentation
      Nagoya
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害感受性の遺伝解析:加齢黄斑変性の易罹患性の原因遺伝子の同定に向けて2012

    • Author(s)
      大石健太郎、 細野克博、 尾花明、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第23回眼科酸化ストレス研究会
    • Place of Presentation
      神戸
    • Year and Date
      2012-07-28
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] Mutation Analaysis in EYS (Eyes Shut Homolog) gene among Japanase and Korean Patients with Autosomal Recessive Retinitis Pigmentosa.2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi, Park DH, Ueno S, Terasaki H, Shin JP, Kim IT, Kondo M, Minoshima S.
    • Organizer
      The 12th Kyungpook-Hamamatsu Joint Medical Symposium
    • Place of Presentation
      Hamamatsu
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] わが国のレーバー先天盲の分子遺伝学的解析2012

    • Author(s)
      堀田喜裕、細野克博、彦谷明子、横井匡、仁科幸子、蓑島伸生、佐藤美保、東範行
    • Organizer
      第68回日本弱視斜視学会/第37回日本小児眼科学会総会合同大会
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Mutation analysis in EYS (Eyes Shots Homolog) among Japanese patients with Retinitis pigmentosa.2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi, Park DH, Ueno S, Shin JP, Kim IT, Kondo M, Minoshima S.
    • Organizer
      APAO
    • Place of Presentation
      Busan
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Mutation Analaysis in EYS (Eyes Shut Homolog) gene among Japanase and Korean Patients with Autosomal Recessive Retinitis Pigmentosa2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi M, Park DH, Ueno S, Terasaki H, Shin JP, Kim IT, Kondo M, Minoshima S
    • Organizer
      The 12^<th> Kyungpook-Hamamatsu Joint Medical Symposium
    • Place of Presentation
      Hamamatsu
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Mutation analysis in EYS (Eyes Shut Homolog) among Japanese patients with Retinitis pigmentosa2012

    • Author(s)
      Hotta Y, Hosono K, Ishigami C, Takahashi M, Park DH, Ueno S, Shin JP, Kim IT, Kondo M, Minoshima S
    • Organizer
      APAO
    • Place of Presentation
      Busan
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] ラット網膜光障害感受性の責任遺伝子領域の限局化2012

    • Author(s)
      大石健太郎、 細野克博、 尾花明、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第116回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] c.4957_4958insA挿入変異を網膜色素変性の親子の片方に認める2家系2012

    • Author(s)
      堀田喜裕、細野克博、石上智愛、荒井優気、平見恭彦、高橋希実子、蓑島伸生、高橋政代
    • Organizer
      第51回日本網膜硝子体学会
    • Place of Presentation
      甲府
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Establishing a mouse cell line from a brain tumor developed with SV40 Large T antigen driven by a photoreceptor-specific gene promoter.2011

    • Author(s)
      Hosono K, Ohishi K, Yamamoto S, Nakanishi H, Yamaguchi Y, Kudoh J, Shimizu N, Hotta Y, Minoshima S.
    • Organizer
      ARVO
    • Place of Presentation
      Fort Lauderdale
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 日本人のBothniaジストロフィの1例2011

    • Author(s)
      堀田喜裕、細野克博、野嶋計寿、趙洋、彦谷明子、近藤峰生、蓑島伸生
    • Organizer
      第18回日本遺伝子診療学会
    • Place of Presentation
      京都
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Genetic Analysis of Rat Strain-dependent Difference in the Susceptibility to Retinal Photic Injury and Mapping Possible Susceptibility Loci2011

    • Author(s)
      Ohishi, K., Hosono, K., Obana, A., Hotta, Y., Hiramitsu, T., Minoshima, T
    • Organizer
      4th International Conference on Health and Longevity Sciences (ICHALS)
    • Place of Presentation
      Shizuoka
    • Year and Date
      2011-10-21
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] ラット網膜光障害の行動学的解析法の妥当性の検証:病理組織観察結果との相関解析2011

    • Author(s)
      大石健太郎、 細野克博、 尾花明、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第115回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] Clinical features of a Japanese patient with Bothnia dystrophy.2011

    • Author(s)
      Nojima K, Hosono K, Zhao Y, Toshiba T, Asai T, Kato M, Minoshima S, Hotta Y.
    • Organizer
      ARVO
    • Place of Presentation
      Fort Lauderdale
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 視細胞特異的プロモーターとSV40LargeT抗原によるマウス培養細胞株の樹立2011

    • Author(s)
      細野克博、大石健太郎、山口良考、工藤純、清水信義、堀田喜裕、蓑島伸生
    • Organizer
      第115回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] 本邦症例における網膜色素変性原因遺伝子EYSの寄与と原因変異解析2011

    • Author(s)
      細野克博、中西啓、彦谷明子、藤田太一、須藤希実子、趙洋、佐藤美保、蓑島伸生、堀田喜裕
    • Organizer
      第5回浜松医科学シンポジウム(招待講演)
    • Place of Presentation
      浜松
    • Data Source
      KAKENHI-PROJECT-23592561
  • [Presentation] Establishing a mouse cell line from a tumor developed with SV40 Large T antigen driven by a photoreceptor-specific gene promoter.2010

    • Author(s)
      Minoshima Shinsei
    • Organizer
      The 10^<th> Kyungpook-Hamamatsu Joint Medical Symposium (KHJMS) Hamamatsu Meeting
    • Place of Presentation
      浜松医科大学
    • Year and Date
      2010-09-17
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] ラット網膜光障害感受性の責任遺伝子探索:連続戻し交配による領域の限局化2010

    • Author(s)
      大石健太郎、 細野克博、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第33回日本分子生物学会年会
    • Place of Presentation
      神戸
    • Year and Date
      2010-12-10
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] マイクロサテライト多型解析によるラット網膜光障害感受性の遺伝学的解析2010

    • Author(s)
      大石健太郎、 細野克博、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第21回眼科酸化ストレス研究会
    • Place of Presentation
      東京
    • Year and Date
      2010-07-31
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] ラット網膜光障害感受性の遺伝学的解析:加齢黄斑変性の発症機序解明に向けて.2010

    • Author(s)
      大石健太郎、 細野克博、 堀田喜裕、平光忠久、 蓑島伸生
    • Organizer
      第114回日本眼科学会総会
    • Place of Presentation
      名古屋
    • Data Source
      KAKENHI-PROJECT-22591939
  • [Presentation] ラット網膜光障害の感受性遺伝子検索のための遺伝学的アプローチ-病理組織所見と行動学所見の関係比較-2009

    • Author(s)
      大石健太郎、平光忠久、蓑島伸生
    • Organizer
      第20回眼科酸化ストレス研究会
    • Place of Presentation
      大阪
    • Year and Date
      2009-07-25
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] ラット網膜光障害感受性の責任遺伝子探索.2009

    • Author(s)
      大石健太郎、細野克博、平光忠久、蓑島伸生
    • Organizer
      第32回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] 緑内障原因遺伝子ミオシリンの相互作用蛋白の同定発症を修飾する因子としての可能性2009

    • Author(s)
      大坪正史、中西伸夫、Thanseem Ismail、堀田喜裕、蓑島伸生
    • Organizer
      第113回日本眼科学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Mutation View(招待講演)2009

    • Author(s)
      Minoshima, S., et al.
    • Organizer
      International Symposium on Applied Genomics 2009 Me dical Genome Science in the Personal Genome Era
    • Place of Presentation
      東京
    • Year and Date
      2009-12-03
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] ヒト遺伝子多様性データベースの構築の現状2009

    • Author(s)
      蓑島伸生、大坪正史、清水信義
    • Organizer
      第16回日本遺伝子診療学会大会
    • Place of Presentation
      札幌
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] ヒト遺伝子多様性データベースの構築の現状(招待講演)2009

    • Author(s)
      蓑島伸生, 他
    • Organizer
      第16回 日本遺伝子診療学会大会
    • Place of Presentation
      札幌
    • Year and Date
      2009-07-31
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Interaction between optineurin and bZIP transcription factor NRL.2009

    • Author(s)
      Wang, C., Hosono, K., Ohtsubo, M., Ohishi, K., Nakanishi, N., Hikoya, A., Sato, M., Hotta, Y., Minoshima, S.
    • Organizer
      Association for Research in Vision and Ophthalmology
    • Place of Presentation
      Florida (USA)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] 緑内障原因遺伝子産物オプチニュリンと相互作用するタンパクの同定.2009

    • Author(s)
      大坪正史、Thanseem Ismail、細野克博、堀田喜裕、蓑島伸生
    • Organizer
      第32回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] The new version of MutationView: Enhanced Search Function and Significant Increase in the Number of Gene Entries.2009

    • Author(s)
      Ohtsubo, M., Kawaguchi, K., Adachi, K., Horisawa, T., Shimizu, N., Minoshima, S.
    • Organizer
      20th International Conference on Genome Informatics (GIW2009)
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] ゲノム医療の現状・将来について(招待講演)2009

    • Author(s)
      蓑島伸生
    • Organizer
      第119回 遠江医学会
    • Place of Presentation
      浜松
    • Year and Date
      2009-11-15
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] MutationView2009

    • Author(s)
      Minoshima, S.
    • Organizer
      International Symposium on Applied Genomics 2009 Medical Genome Science in the Personal Genome Era
    • Place of Presentation
      Tokyo (Japan)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Construction of independent LSDBs with smooth user-interface and real-time analysis function using MutationView softwares, MV4LSDB.2008

    • Author(s)
      Ohtsubo, M., Minoshima, S., Kawaguchi, K., Adachi, K., Horisawa, T., Shimizu, N.
    • Organizer
      The 2008 Annual Conference of the Japanese Society for Bioinformatics (JSBi2008)
    • Place of Presentation
      Osaka (Japan)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Construction of independent LSDBs with smooth user-interface and real-time analysis function using MutationView softwares2008

    • Author(s)
      Minoshima, S., et.al.
    • Organizer
      HGVS2008
    • Place of Presentation
      Philadelphia (USA)
    • Year and Date
      2008-11-11
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] オプチニューリンとNRLタンパクの相互作用の解析.2008

    • Author(s)
      王春霞、細野克博、大坪正史、大石健太郎、中西伸夫、堀田喜裕、蓑島伸生
    • Organizer
      第31回日本分子生物学会年会第81回日本生化学会大会合同年会
    • Place of Presentation
      神戸
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] ラット網膜光障害の感受性遺伝子検索のための遺伝学的アプローチ.2008

    • Author(s)
      大石健太郎、平光忠久、蓑島伸生
    • Organizer
      第30回日本光医学・光生物学会
    • Place of Presentation
      松江
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] 緑内障発症機序の分子レベルでの解明:緑内障原因遺伝子ミオシリンの産物蛋白質が細胞外で相互作用する蛋白質の探索.2008

    • Author(s)
      中西伸夫、大坪正史、大石健太郎、Ismail Thanseem、細野克博、王春霞、堀田喜裕、蓑島伸生
    • Organizer
      第31回日本分子生物学会年会第81回日本生化学会大会合同年会
    • Place of Presentation
      神戸
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] 緑内障候補領域に座し既知原因遺伝子OPTNと相互作用するタンパク遺伝子の変異解析2008

    • Author(s)
      大坪正史、細野克博、朝岡亮、王春霞、中西啓、WirtzMary K. 、峯田周幸、堀田喜裕、蓑島伸生
    • Organizer
      第112回日本眼科学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] オプチニューリンとNRLタンパク質の相互作用の解析.2007

    • Author(s)
      王春霞、大坪正史、細野克博、大石健太郎、堀田喜裕、蓑島伸生
    • Organizer
      第111回日本眼科学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] SYMPHONIE, a knowledge-base of symptoms exhibited in diseases with genetic factors.2007

    • Author(s)
      Ohtsubo, M., Wang, CX., Hotta, Y., Nakanishi, H., Mineta, H., Moriwaki, S., Kawaguchi, K., Nakanishi, N., Adachi, K., Horisawa, T., Terao, T., Minoshima, S.
    • Organizer
      The 2007 Annual Conference of the Japanese Society for Bioinformatics (JSBi2007)
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Myocilin interacting proteins: Screening of a human retina yeast two hybrid cDNA library.2007

    • Author(s)
      Ohtsubo, M., Hosono, K., Wang, C., Hotta, Y., Minoshima, S.
    • Organizer
      American Society of Human Genetics (ASHG) 57th Annual Meeting
    • Place of Presentation
      San Diego (USA)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] SYMPHONIE: A knowledge-base to hierarchically classify symptoms associated with gene-related diseases.2006

    • Author(s)
      Ohtsubo, M., Moriwaki, S., Wang, C.X., Hotta, Y., Horisawa, T., Shimizu, N., Terao, T., Minoshima, S.
    • Organizer
      The 11th International Congress of Human Genetics
    • Place of Presentation
      Brisbane (Australia)
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] Human genomics and disease mutation database.2006

    • Author(s)
      Minoshima, S.
    • Organizer
      JSPS COLLOQUIUM on Frontiers of Genome Science and Challenges to Medical Application
    • Place of Presentation
      Stockholm (Sweden)
    • Year and Date
      2006-08-30
    • Data Source
      KAKENHI-PROJECT-17019027
  • [Presentation] ラット網膜光障害感受性を支配する責任遺伝子領域の限局化

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第118回日本眼科学会
    • Place of Presentation
      東京
    • Year and Date
      2014-04-02 – 2014-04-06
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] The first USH2A mutation analysis of Japanese Autosomal Recessive Retinitis Pigmentosa patients: A totally different mutation profile with the lack of frequent mutations found in Caucasian patients

    • Author(s)
      Katsuhiro Hosono, Yang Zhao, Kimiko Suto, Chie Ishigami, Yuuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, and Yoshihiro Hotta
    • Organizer
      XVIth International Symposium on Retinal Degeneration
    • Place of Presentation
      California
    • Year and Date
      2014-07-13 – 2014-07-18
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 常染色体劣性網膜色素変性の日本人患者におけるUSH2A遺伝子の変異解析

    • Author(s)
      堀田喜裕、細野克博、趙洋、須藤希実子、石上智愛、荒井優気、彦谷明子、平見恭彦、大坪正史、上野真治、寺﨑浩子、佐藤美保、中西啓、遠藤志織、水田邦博、峯田周幸、近藤峰生、高橋政代、蓑島伸生
    • Organizer
      日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会
    • Place of Presentation
      東京
    • Year and Date
      2014-11-19 – 2014-11-22
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] Mutation Analysis of the USH2A Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

    • Author(s)
      Katsuhiro Hosono, Yang Zhao, Chie Ishigami, Shinji Ueno, Hiroshi Nakanishi, Hiroko Terasaki, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, and Yoshihiro Hotta
    • Organizer
      ARVO2014
    • Place of Presentation
      Orland
    • Year and Date
      2014-05-05 – 2014-05-08
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] 加齢黄斑変性と網膜光障害の関連遺伝子探索

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      2014年度-夏の研究会(COI-Sプログラム)
    • Place of Presentation
      岡崎
    • Year and Date
      2014-09-04 – 2014-09-05
    • Data Source
      KAKENHI-PROJECT-25462708
  • [Presentation] A twin with Leber congenital amaurosis possibly caused by the GUCY2D gene mutation

    • Author(s)
      Yuko Harada, Katsuhiro Hosono, , Akiko Hikoya, Shinsei Minoshima, Miho Sato, Yoshihiro Hotta
    • Organizer
      AAPOS-JAPO-JASA Joint Meeting
    • Place of Presentation
      京都
    • Year and Date
      2014-11-30 – 2014-12-01
    • Data Source
      KAKENHI-PROJECT-26462659
  • [Presentation] ラット網膜光障害の感受性を支配する責任遺伝子の追究

    • Author(s)
      大石健太郎,細野克博,尾花明,堀田喜裕,平光忠久,蓑島伸生
    • Organizer
      第37回日本分子生物学年会
    • Place of Presentation
      横浜
    • Year and Date
      2014-11-25 – 2014-11-28
    • Data Source
      KAKENHI-PROJECT-25462708
  • 1.  SHIMIZU Nobuyoshi (50162706)
    # of Collaborated Projects: 10 results
    # of Collaborated Products: 5 results
  • 2.  HOTTA Yoshihiro (90173608)
    # of Collaborated Projects: 8 results
    # of Collaborated Products: 85 results
  • 3.  OHISHI Kentaro (80345826)
    # of Collaborated Projects: 6 results
    # of Collaborated Products: 26 results
  • 4.  KUDOH Jun (80178003)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 0 results
  • 5.  OHTSUBO Masafumi (10327653)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 25 results
  • 6.  MORIWAKI Shinichi (40303565)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 2 results
  • 7.  HOSONO Katsuhiro (60402260)
    # of Collaborated Projects: 4 results
    # of Collaborated Products: 40 results
  • 8.  ASAKAWA Shuichi (30231872)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 9.  満山 進 (30296727)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 1 results
  • 10.  OBANA Akira (40194625)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 15 results
  • 11.  TAKAHASHI Masayo (80252443)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 11 results
  • 12.  YAMAMOTO Shuichi (20230550)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 2 results
  • 13.  ISMAIL Thanseem (60569846)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 3 results
  • 14.  MORI Norio (00174376)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 15.  SUZUKI Katsuaki (00285040)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 16.  TSUCHIYA Kenji (20362189)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  MATSUZAKI Hideo (00334970)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 18.  NAKAMURA Kazuhiko (80263911)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 19.  KONDO Mineo (80303642)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 20.  KAWASAKI Kazuhiko (90245465)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  KANEHISA Minoru (70183275)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 22.  KUHARA Satoru (00153320)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  MIYANO Satoru (50128104)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  TAKAGI Toshihisa (30110836)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  AKUTSU Tatsuya (90261859)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  MATSUDA Hideo (50183950)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  TAKAYANAGI Atsushi (80245464)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  NAGAFUCHI Seiho (00150441)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 29.  SAKAGUCHI Shimon (30280770)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 30.  SHIMIZU Atsushi (30327655)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 31.  SASAKI Takashi (70306843)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 32.  KITAGAWA Masatoshi (50294971)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 33.  SUGIMURA Haruhiko (00196742)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 34.  中西 啓 (20444359)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 35.  寺崎 浩子 (40207478)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 36.  中井 謙太 (60217643)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 37.  森 浩禎 (90182203)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 38.  陳 嘉竝 (10296725)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 39.  足立 直樹 (70300853)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 40.  徳山 勤 (90313957)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 41.  佐藤 美保 (50252242)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 9 results
  • 42.  横井 匡 (80514025)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 7 results
  • 43.  KURATA KENTARO
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 44.  SAITSU hirotomo
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 45.  AZUMA noriyuki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 7 results
  • 46.  NISHINA Sachiko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 7 results
  • 47.  FUKAMI maki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 7 results
  • 48.  NAKANO tadashi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 49.  HAYASHI takaaki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 50.  KONDO hiroyuki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 51.  中西 伸夫
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 52.  王 春霞
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 53.  杉山 将隆.
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 54.  ANTONARAKIS スティタアノス
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 55.  ANTONARAKIS Stylianos
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 56.  ANTONARAKIS エス
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 57.  MCDERMID He
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 58.  KOLA Ismail
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 59.  ANTONARAKIS スティリアノス
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 60.  EMANUEL Bev
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 61.  浅井 潔
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 62.  OUCHI Yasuomi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 63.  IWAMA Hisakazu
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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