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Molecular pathogenesis of human genetic disorders associated with deficiency in the DNA repair and damage response system

Research Project

Project/Area Number 17H00783
Research Category

Grant-in-Aid for Scientific Research (A)

Allocation TypeSingle-year Grants
Section一般
Research Field Risk sciences of radiation and chemicals
Research InstitutionNagoya University

Principal Investigator

OGI Tomoo  名古屋大学, 環境医学研究所, 教授 (80508317)

Co-Investigator(Kenkyū-buntansha) 光武 範吏  長崎大学, 原爆後障害医療研究所, 教授 (50404215)
真下 知士  大阪大学, 医学系研究科, 准教授 (80397554)
Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥42,770,000 (Direct Cost: ¥32,900,000、Indirect Cost: ¥9,870,000)
Fiscal Year 2019: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
Fiscal Year 2018: ¥15,210,000 (Direct Cost: ¥11,700,000、Indirect Cost: ¥3,510,000)
Fiscal Year 2017: ¥16,900,000 (Direct Cost: ¥13,000,000、Indirect Cost: ¥3,900,000)
Keywordsゲノム不安定性疾患 / DNA修復 / DNA損傷応答 / 次世代オミクス解析 / 転写共役修復 (TC-NER) / 修復
Outline of Final Research Achievements

We have investigated on human genetic disorders associated with genome instability. Patients with these syndromes have developed various clinical manifestations due to malfunctions of DNA repair and damage response system. We have collected undiagnosed cases and tried to elucidate the genetic cause of diseases using the Multi-omics approach that involves next-generation sequencing, high-accurate mass spectrometry, and precise DNA repair assays. Once we identified pathogenic variants, we have performed in vitro and in vivo analyses as well as animal studies so that we could get new insights into the molecular pathogenesis of the diseases. Recently, we have reported a detailed molecular mechanism of the initiation of transcription-coupled repair, which is compromised in Cockayne syndrome.

Academic Significance and Societal Importance of the Research Achievements

ゲノム不安定性疾患群とは、DNA修復・損傷応答システムの先天異常により発症する疾患の総称であり、多数の疾患が含まれ、また各々の病態が類似することから臨床診断に難渋することも多い。オミクス解析により、ゲノム不安定性疾患の発症メカニズムを遺伝子・分子レベルで詳細に理解することは、難病患者の確定診断技術の開発や疾患緩和薬/治療薬開発へ寄与するとともに、ゲノムの安定維持機構の作動原理の理解を通して、がんや老化といった人類が直面している医学上の未解決課題に挑戦する上で欠かすことのできない基礎科学知識の蓄積に貢献することが可能である。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Annual Research Report
  • 2017 Annual Research Report
  • Research Products

    (59 results)

All 2020 2019 2018 2017 Other

All Int'l Joint Research (9 results) Journal Article (20 results) (of which Int'l Joint Research: 12 results,  Peer Reviewed: 20 results,  Open Access: 16 results) Presentation (27 results) (of which Int'l Joint Research: 7 results,  Invited: 12 results) Remarks (2 results) Patent(Industrial Property Rights) (1 results)

  • [Int'l Joint Research] Sussex Univ. GDSC(英国)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] LUMC(オランダ)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] CNR(イタリア)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Sussex Univ. GDSC(英国)

    • Related Report
      2018 Annual Research Report
  • [Int'l Joint Research] LUMC(オランダ)

    • Related Report
      2018 Annual Research Report
  • [Int'l Joint Research] CNR(イタリア)

    • Related Report
      2018 Annual Research Report
  • [Int'l Joint Research] Sussex Univ. GDSC(英国)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] LUMC(オランダ)

    • Related Report
      2017 Annual Research Report
  • [Int'l Joint Research] CNR(イタリア)

    • Related Report
      2017 Annual Research Report
  • [Journal Article] Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair2020

    • Author(s)
      Nakazawa Y, Hara Y, Oka Y, Komine O, van den Heuvel D, Guo C, Daigaku Y, Isono M, He Y, Shimada M, Kato K, Jia N, Hashimoto S, Kotani Y, Miyoshi Y, Tanaka M, Sobue A, Mitsutake N, Suganami T, Masuda A, Ohno K, Nakada S, Mashimo T, Yamanaka K, Luijsterburg MS, Ogi T
    • Journal Title

      Cell

      Volume: 19 Issue: 6 Pages: 1228-1244

    • DOI

      10.1016/j.cell.2020.02.010

    • NAID

      120006871293

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.2020

    • Author(s)
      Kato K, Okuno Y, Vasilev FF, Otomo T, Oishi H, Muramatsu H, Kawano Y, Oka Y, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.
    • Journal Title

      Journal of Medical genetics

      Volume: 57 Issue: 4 Pages: 245-253

    • DOI

      10.1136/jmedgenet-2019-106213

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.2020

    • Author(s)
      Nagata T, Matsushita M, Mishima K, Kamiya Y, Kato K, Toyama M, Ogi T, Ishiguro N, Kitoh H.
    • Journal Title

      Molecular Genetics & Genomic Medicine

      Volume: 8 Issue: 3 Pages: 1-1

    • DOI

      10.1002/mgg3.1148

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.2020

    • Author(s)
      Takeichi T, Matsumoto T, Nomura T, Takeda M, Niwa H, Kono M, Shimizu H, Ogi T, Akiyama M.
    • Journal Title

      Br J Dermatol.

      Volume: 182 Issue: 2 Pages: 491-493

    • DOI

      10.1111/bjd.18445

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation.2020

    • Author(s)
      Murase Y, Takeichi T, Kawamoto A, Tanahashi K, Okuno Y, Takama H, Shimizu E, Ishikawa J, Ogi T, Akiyama M.
    • Journal Title

      Journal of Dermatological Science

      Volume: 97 Issue: 1 Pages: 50-56

    • DOI

      10.1016/j.jdermsci.2019.12.001

    • NAID

      120006849002

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Hailey-Hailey disease with oesophageal involvement due to a previously unreported ATP2C1 mutation.2019

    • Author(s)
      Kono M, Kodera M, Inasaka Y, Hasegawa I, Muro Y, Nakazawa Y, Ogi T, Akiyama M.
    • Journal Title

      European Journal of Dermatology

      Volume: 印刷中

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.2019

    • Author(s)
      Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D.
    • Journal Title

      American Journal of Human Genetics

      Volume: 105 Issue: 2 Pages: 434-440

    • DOI

      10.1016/j.ajhg.2019.06.017

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The JAK/STAT3 and NF-kappa B signaling pathways regulate cancer stem cell properties in anaplastic thyroid cancer cells2019

    • Author(s)
      K. Shiraiwa, M. Mitsutake, Y. Nakazawa, T. Ogi, K. Suzuki, V. Saenko, K. Umezawa, S. Yamashita, K. Tsukamoto
    • Journal Title

      Thyroid

      Volume: in press Issue: 5 Pages: 674-682

    • DOI

      10.1089/thy.2018.0212

    • Related Report
      2019 Annual Research Report 2018 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation2019

    • Author(s)
      Kono M、Sawada M、Nakazawa Y、Ogi T、Muro Y、Akiyama M
    • Journal Title

      Acta Dermato Venereologica

      Volume: 99 Issue: 4 Pages: 458-459

    • DOI

      10.2340/00015555-3119

    • Related Report
      2019 Annual Research Report 2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders2019

    • Author(s)
      Marin M, Ramirez MJ, Carmona MA, Jia N, Ogi T, Bogliolo M, Surralles J.
    • Journal Title

      Genes

      Volume: 10 Issue: 1 Pages: 60-60

    • DOI

      10.3390/genes10010060

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations2018

    • Author(s)
      Doi H、Koyano S、Miyatake S、Nakajima S、Nakazawa Y、Kunii M、Tomita-Katsumoto A、Oda K、Yamaguchi Y、Fukai R、Ikeda S、Kato R、Ogata K、Kubota S、Hayashi N、Takahashi K、Tada M、Tanaka K、Nakashima M、Tsurusaki Y et al.
    • Journal Title

      Journal of Human Genetics

      Volume: 63 Issue: 4 Pages: 417-423

    • DOI

      10.1038/s10038-017-0408-5

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.2018

    • Author(s)
      Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann A.
    • Journal Title

      Journal of Medical Genetics

      Volume: 55 Issue: 5 Pages: 329-343

    • DOI

      10.1136/jmedgenet-2017-104877

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Novel function of HATs and HDACs in homologous recombination through acetylation of human RAD52 at double-strand break sites2018

    • Author(s)
      Yasuda Takeshi、Kagawa Wataru、Tajima Katsushi
    • Journal Title

      PLOS Genetics

      Volume: 14 Issue: 3 Pages: 1007277-1007277

    • DOI

      10.1371/journal.pgen.1007277

    • NAID

      120006459820

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] ALC1/CHD1L, a chromatin-remodeling enzyme, is required for efficient base excision repair.2017

    • Author(s)
      Tsuda M, Cho K, Ooka M, Shimizu N, Watanabe R, Yasui A, Nakazawa Y, Ogi T, Harada H, Agama K, Nakamura J, Asada R, Fujiike H, Sakuma T, Yamamoto T, Murai J, Hiraoka M, Koike K, Pommier Y, Takeda S, Hirota K.
    • Journal Title

      PLos One

      Volume: 12 Issue: 11 Pages: e0188320-e0188320

    • DOI

      10.1371/journal.pone.0188320

    • NAID

      120006800808

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways.2017

    • Author(s)
      Okuda M, Nakazawa Y, Guo C, Ogi T, Nishimura Y.
    • Journal Title

      Nucleic Acids Research

      Volume: 45 Issue: 22 Pages: 13043-13055

    • DOI

      10.1093/nar/gkx970

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Transplantation of bioengineered rat lungs recellularized with endothelial and adipose-derived stromal cells2017

    • Author(s)
      Doi Ryoichiro, Tsuchiya Tomoshi, Mitsutake Norisato, Nishimura Satoshi, Matsuu-Matsuyama Mutsumi, Nakazawa Yuka, Ogi Tomoo, Akita Sadanori, Yukawa Hiroshi, Baba Yoshinobu, Yamasaki Naoya, Matsumoto Keitaro, Miyazaki Takuro, Kamohara Ryotaro, Hatachi Go, Sengyoku Hideyori et al.
    • Journal Title

      Scientific Reports

      Volume: 7 Issue: 1 Pages: 1-15

    • DOI

      10.1038/s41598-017-09115-2

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules.2017

    • Author(s)
      Okubo Y, Masuyama R, Iwanaga A, Koike Y, Kuwatsuka Y, Ogi T, Yamamoto Y, Endo Y, Tamura H, Utani A.
    • Journal Title

      PLoS One.

      Volume: 12 Issue: 5 Pages: 99-99

    • DOI

      10.1371/journal.pone.0177375

    • NAID

      120007185935

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] PCNA ubiquitylation ensures timely completion of unperturbed DNA replication in fission yeast.2017

    • Author(s)
      Daigaku Y, Etheridge TJ, Nakazawa Y, Nakayama M, Watson AT, Miyabe I, Ogi T, Osborne MA, Carr AM.
    • Journal Title

      PLoS Genetics

      Volume: 13 Issue: 5 Pages: e1006789-e1006789

    • DOI

      10.1371/journal.pgen.1006789

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum.2017

    • Author(s)
      Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Tomimura S, Yamamoto Y, Tamura H, Ikeda S, Maemura K, Tsuiki E, Kitaoka T, Endo Y, Mishima H, Yoshiura KI, Ogi T, Tanizaki H, Wataya-Kaneda M, Hattori T, Utani A.
    • Journal Title

      Journal of Dermatology

      Volume: 印刷中 Issue: 6 Pages: 644-650

    • DOI

      10.1111/1346-8138.13727

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] An XPA gene splicing mutation resulting in trace protein expression in an elderly xeroderma pigmentosum group A patient without neurological abnormalities.2017

    • Author(s)
      Takahashi Y, Endo Y, Kusaka A, Nakamaura S, Nakazawa Y, Ogi T, Uryu M, Tsuji M, Furue M, Moriwaki S.
    • Journal Title

      British Journal of Dermatology

      Volume: 印刷中 Issue: 1 Pages: 253-257

    • DOI

      10.1111/bjd.15051

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] RNA polymerase IIのユビキチン化修飾による転写共役修復開始反応の分子機構とその破綻により発症する哺乳類の神経変性のメカニズム.2019

    • Author(s)
      荻朋男
    • Organizer
      第42回日本分子生物学会年会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 転写共役ヌクレオチド除去修復機構に重要なRNAポリメラーゼユビキチン化部位の同定.2019

    • Author(s)
      中沢由華, 原雄一郎, 岡泰由, 小峯起, Diana van den Heuvel, 郭朝万, 大学保一, 磯野真由, 何予希, 嶋田繭子, 加藤香奈, 賈楠, 橋下悟, 小谷祐子, 三好由夏, 田中都, 祖父江顕, 光武範吏, 菅波孝祥, 増田章男, 大野欽司, 中田慎一郎, 真下知士, 山中宏二, Martijn S. Luijsterburg, 荻朋男.
    • Organizer
      第42回日本分子生物学会年会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ChIP-seqを利用したDNA損傷およびヌクレオチド除去修復のモニタリング.2019

    • Author(s)
      原雄一郎, 中沢由華, 岡泰由, 小峯起, Diana van den Heuvel, 郭朝万, 大学保一, 磯野真由, 何予希, 嶋田繭子, 加藤香奈, 賈楠, 橋下悟, 小谷祐子, 三好由夏, 田中都, 祖父江顕, 光武範吏, 菅波孝祥, 増田章男, 大野欽司, 中田慎一郎, 真下知士, 山中宏二, Martijn S. Luijsterburg, 荻朋男.
    • Organizer
      第42回日本分子生物学会年会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 希少未診断疾患におけるゲノム解析およびデータ評価パイプラインの構築.2019

    • Author(s)
      中沢由華, 原雄一郎, 遠山美穂, 岡泰由, 荻朋男.
    • Organizer
      第4回名大医薬系3部局交流シンポジウム
    • Related Report
      2019 Annual Research Report
  • [Presentation] Alterations in RNA polymerase IIo ubiquitination cause Cockayne syndrome-like premature aging phenotype in mice due to TC-NER defect.2019

    • Author(s)
      Ogi T.
    • Organizer
      International Symposium on XP and other Nucleotide Excision Repair Disorders
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Alterations in RNA polymerase IIo ubiquitination cause Cockayne syndrome-like premature aging phenotype in mice due to TC-NER defect.2019

    • Author(s)
      Nakazawa Y, Ogi T.
    • Organizer
      International Symposium on XP and other Nucleotide Excision Repair Disorders
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] ゲノム不安定性疾患群を中心とした希少難治性疾患の次世代マルチオミクス解析と難病プラットフォーム連携による疾患原因変異の検索.2019

    • Author(s)
      荻 朋男.
    • Organizer
      難病プラットフォーム公開シンポジウム
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] DNA損傷依存的なRNAポリメラーゼのユビキチン化修飾の異常はDNA修復経路の欠損マウスで老化表現型を示す.2019

    • Author(s)
      荻 朋男.
    • Organizer
      国立遺伝学研究所・研究集会「ゲノムの維持継承を支える分子基盤の包括的理解とその発展」
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] マルチオミクス解析により同定した重症アイカルディ・ゴーティエ症候群の分子病態解析.2019

    • Author(s)
      岡 泰由, 荻 朋男.
    • Organizer
      第41回日本小児遺伝学会学術集会
    • Related Report
      2018 Annual Research Report
  • [Presentation] ゲノム不安定性を示す遺伝性疾患の分子病態.2018

    • Author(s)
      中沢 由華, 荻 朋男.
    • Organizer
      第3回名大医薬系3部局交流シンポジウム~岐阜薬科大学・岐阜大学G-CHAIN・ラクオリア創薬合同シンポジウム~
    • Related Report
      2018 Annual Research Report
  • [Presentation] RNAポリメラーゼのユビキチン化修飾による転写共役ヌクレオチド除去修復の反応制御とコケイン症候群の病態.2018

    • Author(s)
      荻 朋男.
    • Organizer
      第41回日本分子生物学会年会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] Identification of pathogenic mutations in patients with rare diseases using multiomics approaches.2018

    • Author(s)
      Oka Y, Ogi T.
    • Organizer
      Japanese Proteomics Society 2018 Conference (JPrOS 2018), 9th Asia-Oceania Human Proteome Organization (AOHUPO), and 66th Annual Conference on Mass Spectrometry
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Very mild Japanese Cockayne syndrome (type-IV) cases with a N-terminal truncation mutation in the ERCC6 / CSB gene.2018

    • Author(s)
      Ogi T.
    • Organizer
      国際シンポジウム「早老症と関連疾患」
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Human genetic disorders associated with TC-NER deficiency.2017

    • Author(s)
      Ogi T.
    • Organizer
      第2回神戸大学バイオシグナル総合研究センター国際シンポジウム
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Very mild CS type-IV cases with mutation in the CSB gene.2017

    • Author(s)
      Ogi T.
    • Organizer
      Cockayne Syndrome Meeting.
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Human genetics disorders associated with DNA repair deficiency.2017

    • Author(s)
      Ogi T.
    • Organizer
      6th US-Japan DNA Repair Meeting
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] DNA損傷依存的なRNAポリメラーゼの修飾とヒト疾患.2017

    • Author(s)
      荻 朋男
    • Organizer
      国立遺伝学研究所・研究集会「染色体構築と安定化を担う分子機構」
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] ゲノム不安定性を示す遺伝性疾患の次世代マルチオミクス解析.2017

    • Author(s)
      荻 朋男
    • Organizer
      第7回名古屋大学医学系研究科・生理学研究所合同シンポジウム
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] ミニレクチャー「ゲノム不安定性疾患群を中心とした希少疾患の次世代マルチオミクス病態解析」2017

    • Author(s)
      荻 朋男
    • Organizer
      第12回東海小児遺伝カンファレンス
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] Molecular pathogenesis underlying Cockayne syndrome and UV-sensitive syndrome.2017

    • Author(s)
      Jia N, Guo C, Oka Y, Nakazawa Y, Shimada M, Miyazaki H, Ogi T.
    • Organizer
      第40回日本分子生物学会年会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Very mild CS type-IV cases with mutations in the CSB gene.2017

    • Author(s)
      Jia N, Guo C, Oka Y, Nakazawa Y, Shimada M, Miyazaki H, Ogi T.
    • Organizer
      第24回DNA複製・組換え・修復ワークショップ
    • Related Report
      2017 Annual Research Report
  • [Presentation] DNA修復機構欠損性疾患の病態解明研究.2017

    • Author(s)
      中沢由華、賈楠、嶋田繭子、宮崎仁美、千住千佳子、郭朝万、岡泰由、荻朋男.
    • Organizer
      第2回放射線災害・医科学研究拠点カンファランス
    • Related Report
      2017 Annual Research Report
  • [Presentation] Whole exome sequencing of 14 schizophrenia multiplex families in Japan.2017

    • Author(s)
      Toyama M, Takasaki Y, Aleksic B, Ogi T, Ozaki N.
    • Organizer
      Human Genome Meeting 2018
    • Related Report
      2017 Annual Research Report
  • [Presentation] マルチオミクス解析による希少遺伝性疾患発症責任因子の同定.2017

    • Author(s)
      岡泰由、中沢由華、荻朋男.
    • Organizer
      第40回日本分子生物学会年会
    • Related Report
      2017 Annual Research Report
  • [Presentation] ゲノム不安定性を示す遺伝性疾患群の疾患責任遺伝子変異の探索.2017

    • Author(s)
      中沢由華、千住千佳子、岡泰由、嶋田繭子、宮崎仁美、郭朝万、賈楠、荻朋男.
    • Organizer
      第40回日本分子生物学会年会
    • Related Report
      2017 Annual Research Report
  • [Presentation] A Novel Gene Mutation Of Japanese Xeroderma Pigmentosum Complementation Group F Patients.2017

    • Author(s)
      Senju C, Nakazawa Y, Ogi T.
    • Organizer
      第40回日本分子生物学会年会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Identification of pathogenic mutations in patients with rare diseases using multi-omics analysis.2017

    • Author(s)
      Oka Y, Nakazawa Y, Ogi T.
    • Organizer
      日本プロテオーム学会2017年大会
    • Related Report
      2017 Annual Research Report
  • [Remarks] 名古屋大学環境医学研究所HP

    • URL

      http://www.riem.nagoya-u.ac.jp/index.html

    • Related Report
      2019 Annual Research Report 2018 Annual Research Report
  • [Remarks] 名古屋大学環境医学研究所 発生遺伝分野HP

    • URL

      http://www.riem.nagoya-u.ac.jp/4/genetics/index.html

    • Related Report
      2019 Annual Research Report 2018 Annual Research Report
  • [Patent(Industrial Property Rights)] 老化マウスモデル2019

    • Inventor(s)
      荻朋男
    • Industrial Property Rights Holder
      名古屋大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2019-203237
    • Filing Date
      2019
    • Related Report
      2019 Annual Research Report

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Published: 2017-04-28   Modified: 2022-03-29  

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