Molecular epidemiology studies on rare genetic disorders and pediatric cancer cohorts associated with genome instability

• Project/Area Number: 15H02654
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 海外学術
• Research Field: Human genetics
• Research Institution: Nagoya University
• Principal Investigator: OGI Tomoo 名古屋大学, 環境医学研究所, 教授 (80508317)
• Co-Investigator(Kenkyū-buntansha): 花岡 文雄 学習院大学, 理学部, 研究員 (50012670) ; 李 桃生 長崎大学, 原爆後障害医療研究所, 教授 (50379997) ; 光武 範吏 長崎大学, 原爆後障害医療研究所, 准教授 (50404215)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2018)
• Budget Amount: ¥42,900,000 (Direct Cost: ¥33,000,000、Indirect Cost: ¥9,900,000); Fiscal Year 2017: ¥12,350,000 (Direct Cost: ¥9,500,000、Indirect Cost: ¥2,850,000); Fiscal Year 2016: ¥12,350,000 (Direct Cost: ¥9,500,000、Indirect Cost: ¥2,850,000); Fiscal Year 2015: ¥18,200,000 (Direct Cost: ¥14,000,000、Indirect Cost: ¥4,200,000)
• Keywords: DNA修復 / ゲノム不安定性疾患

Outline of Final Research Achievements

Genomic DNA is constitutively exposed to various DNA damaging sources; therefore, the DNA repair and damage response system is essential for the maintenance and stable transmission of the genetic information. A failure in this system elicits genome instability and causes carcinogenesis and ageing. In this study, we have collected various hereditary disorder cases world-widely to identify genetic factors associated with congenital genome instability. We generated a pathogenic mutation database as well as a cell-bank from the analysis of collected samples. We have identified several new DNA repair genes with novel pathogenic mutations. We are currently working on the molecular pathogenesis of newly identified mutations and their associated genetic disorders.

Academic Significance and Societal Importance of the Research Achievements

ゲノム不安定性疾患群は、多種類の遺伝性疾患が含まれるが、それぞれ病態がオーバーラップすることも多く、診断に難渋するケースも少なくない。また、個々の疾患は非常に希少であり、疾患に関する情報が少ないことも大きな問題である。本研究で、希少疾患の原因 (遺伝子変異)と病態の相関について検討し、成果を論文報告したことで、今後の診断へも貢献してゆくと期待される。また、「ゲノム不安定性」は、がん発症と悪性化の主因の一つであると考えられ、「ゲノムを安定に維持する種々の分子メカニズム」を詳細に理解することは、がんそのものの理解にも大きく寄与すると期待され、重要な研究分野である。

Research Products

• [Int'l Joint Research] Sussex Univ. GDSC/Guy's Hospital(英国)
• [Int'l Joint Research] LUMC(オランダ)
• [Int'l Joint Research] 北京大学附属病院/上海交通大学附属病院(中国)
• [Int'l Joint Research] ベラルーシ小児がんセンター(ベラルーシ)
• [Int'l Joint Research] モスクワ内分泌研究所(ロシア連邦)
• [Int'l Joint Research]
• [Int'l Joint Research] Sussex Univ. GDSC/Guy's Hospital(英国)
• [Int'l Joint Research] LUMC(オランダ)
• [Int'l Joint Research] CNR(イタリア )
• [Int'l Joint Research] CNRS(フランス)
• [Int'l Joint Research] 北京大学附属病院/上海交通大学附属病院(中国)
• [Int'l Joint Research] Sussex Univ. GDSC/Guy's Hospital(英国)
• [Int'l Joint Research] LUMC(オランダ)
• [Int'l Joint Research] CNR(イタリア )
• [Int'l Joint Research] CNRS(フランス)
• [Int'l Joint Research] 北京大学附属病院(中国)
• [Journal Article] The JAK/STAT3 and NF-kappa B signaling pathways regulate cancer stem cell properties in anaplastic thyroid cancer cells (2019)
  • 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
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders (2019)
  • 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
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation (2019)
  • 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
  • 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
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations (2018)
  • 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
  • Peer Reviewed / Open Access
• [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
  • 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
  • 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
  • Peer Reviewed / Open Access
• [Journal Article] Nicaraven, a potential radioprotective agent, has very limited effect on the survival of cancer cells and the growth of established tumors (2017)
  • Author(s): Yan C, Luo L, Urata Y, Goto S, Guo CY, Li TS
  • Journal Title: Radiation Research Volume: 187 Issue: 3 Pages: 339-345
  • DOI: 10.1667/rr4614.1
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Doxorubicin-induced mitophagy contributes to drug resistance in cancer stem cells from HCT8 human colorectal cancer cells. (2017)
  • Author(s): Yan C, Luo L, Guo CY, Goto S, Urata Y, Shao JH, Li TS.
  • Journal Title: Cancer Letters Volume: 388 Pages: 34-42
  • DOI: 10.1016/j.canlet.2016.11.018
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Dose-dependency and reversibility of radiation-induced injury in cardiac explant-derived cells of mice. (2017)
  • Author(s): Luo L, Yan C, Urata Y, Hasan AS, Goto S, Guo CY, Zhang S, Li TS
  • Journal Title: Scientific Reports Volume: 7 Issue: 1 Pages: 40959-40959
  • DOI: 10.1038/srep40959
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Ionizing radiation impairs endogenous regeneration of infarcted heart: an in vivo 18F-FDG PET/CT and 99mTc-tetrofosmin SPECT/CT study in mice. (2017)
  • Author(s): Luo L, Nishi K, Urata Y, Yan C, Hasan AS, Goto S, Kudo T, Li ZL, Li TS
  • Journal Title: Radiation Research Volume: 187 Issue: 1 Pages: 89-97
  • DOI: 10.1667/rr14543.1
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Identification of Three Novel Fusion Oncogenes, SQSTM1/NTRK3, AFAP1L2/RET, and PPFIBP2/RET, in Thyroid Cancers of Young Patients in Fukushima. (2017)
  • Author(s): Iyama K, Matsuse M, Mitsutake N, Rogounovitch T, Saenko V, Suzuki K, Ashizawa M, Ookouchi C, Suzuki S, Mizunuma H, Fukushima T, Suzuki S, Yamashita S.
  • Journal Title: Thyroid Volume: 印刷中 Issue: 6 Pages: 811-818
  • DOI: 10.1089/thy.2016.0673
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] TERT promoter mutations and Ki-67 labeling index as a prognostic marker of papillary thyroid carcinomas: combination of two independent factors. (2017)
  • Author(s): Matsuse M, Yabuta T, Saenko V, Hirokawa M, Nishihara E, Suzuki K, Yamashita S, Miyauchi A, Mitsutake N.
  • Journal Title: Scientific Reports Volume: 7 Issue: 1 Pages: 41752-41752
  • DOI: 10.1038/srep41752
  • NAID: 120006987562
  • Peer Reviewed / Open Access
• [Journal Article] Aldehyde dehydrogenase activity plays no functional role in stem cell-like properties in anaplastic thyroid cancer cell lines. (2017)
  • Author(s): Shimamura M, Kurashige T, Mitsutake N, Nagayama Y.
  • Journal Title: Endocrine Volume: 55 Issue: 3 Pages: 934-943
  • DOI: 10.1007/s12020-016-1224-y
  • Peer Reviewed / Open Access
• [Journal Article] Genotype Analyses in the Japanese and Belarusian Populations Reveal Independent Effects of rs965513 and rs1867277 but Do Not Support the Role of FOXE1 Polyalanine Tract Length in Conferring Risk for Papillary Thyroid Carcinoma. (2017)
  • Author(s): Nikitski AV, Rogounovitch TI, Bychkov A, Takahashi M, Yoshiura KI, Mitsutake N, Kawaguchi T, Matsuse M, Drozd VM, Demidchik Y, Nishihara E, Hirokawa M, Miyauchi A, Rubanovich AV, Matsuda F, Yamashita S, Saenko VA.
  • Journal Title: Thyroid Volume: 27 Issue: 2 Pages: 224-235
  • DOI: 10.1089/thy.2015.0541
  • NAID: 120006987557
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A ten-year follow up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole genome sequencing. (2016)
  • Author(s): Ono R, Masaki T, Mayca Pozo F, Nakazawa Y, Swagemakers SM, Nakano E, Sakai W, Takeuchi S, Kanda F, Ogi T, van der Spek PJ, Sugasawa K, Nishigori C.
  • Journal Title: Photodermatol Photoimmunol Photomed. Volume: 未定 Issue: 4 Pages: 174-180
  • DOI: 10.1111/phpp.12240
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Enhanced autophagy in colorectal cancer stem cells does not contribute to radio-resistance (2016)
  • Author(s): Chen Yan, Lan Luo, Shinji Goto, Yoshishige Urata, Chang-Ying Guo, Hanako Doi, Kaio Kitazato, Tao-Sheng Li
  • Journal Title: Oncotarget Volume: 印刷中 Issue: 29 Pages: 45112-45121
  • DOI: 10.18632/oncotarget.8972
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] IL-35 expression in hepatocellular carcinoma cells is associated with tumor progression. (2016)
  • Author(s): Long J, Guo H, Cui S, Zhang H, Liu X, Li D, Han Z, Xi L, Kou W, Xu J, Li TS, Ding Y.
  • Journal Title: Oncotarget Volume: 7 Issue: 29 Pages: 45678-45686
  • DOI: 10.18632/oncotarget.10141
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Radiation exposure decreases the quantity and quality of cardiac stem cells in mice. (2016)
  • Author(s): Luo L, Urata Y, Yan C, Hasan AS, Goto S, Guo CY, Tou FF, Xie Y, Li TS.
  • Journal Title: PLoS ONE Volume: 11 Issue: 5 Pages: e0152179-e0152179
  • DOI: 10.1371/journal.pone.0152179
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Association between p53-binding protein 1 expression and genomic instability in oncocytic follicular adenoma of the thyroid (2016)
  • Author(s): Mussazhanova Z, Akazawa Y, Matsuda K, Shichijo K, Miura S, Otsubo R, Oikawa M, Yoshiura K, Mitsutake N, Rogounovitch T, Saenko V, Kozykenova Z, Zhetpisbaev B, Shabdarbaeva D, Sayakenov N, Amntayev B, Kondo H, Ito M, Nakashima M.
  • Journal Title: Endocrine Journal Volume: 63 Issue: 5 Pages: 457-467
  • DOI: 10.1507/endocrj.EJ15-0629
  • NAID: 130005154197
  • ISSN: 0918-8959, 1348-4540
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Targeted Foxe1 overexpression in mouse thyroid causes the development of multinodular goiter but does not promote carcinogenesis. (2016)
  • Author(s): Nikitski A, Saenko V, Shimamura M, Nakashima M, Matsuse M, Suzuki K, Rogounovitch T, Bogdanova T, Shibusawa N, Yamada M, Nagayama Y, Yamashita S, Mitsutake N
  • Journal Title: Endocrinology Volume: 印刷中 Issue: 5 Pages: 2182-2195
  • DOI: 10.1210/en.2015-2066
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] SETDB1, HP1 and SUV39 promote repositioning of 53BP1 to extend resection during homologous recombination in G2 cells (2015)
  • Author(s): Meryem Alagoz, Yoko Katsuki, Hideaki Ogiwara, Tomoo Ogi, Atsushi Shibata, Andreas Kakarougkas, and Penny Jeggo
  • Journal Title: Nucleic Acids Research Volume: 43(16) Issue: 16 Pages: 7931-7944
  • DOI: 10.1093/nar/gkv722
  • NAID: 120006986903
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency (2015)
  • Author(s): Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O,et al
  • Journal Title: Clin Immunol Volume: 160 Issue: 2 Pages: 255-260
  • DOI: 10.1016/j.clim.2015.07.004
  • Peer Reviewed / Open Access
• [Journal Article] XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. (2015)
  • Author(s): Guo C, Nakazawa Y, Woodbine L, Bjorkman A, Shimada M, Fawcett H, Jia N, Ohyama K, Li TS,Nagayama Y, Mitsutake N, Pan-Hammarström Q, Gennery AR, Lehmann AR, Jeggo PA, Ogi T.
  • Journal Title: J Allergy Clin Immunol. Volume: 136 (4) Issue: 4 Pages: 1007-1017
  • DOI: 10.1016/j.jaci.2015.06.007
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] USP7 is a suppressor of PCNA ubiquitination and oxidative-stress-induced mutagenesis in human cells. (2015)
  • Author(s): Kashiwaba S, Kanao R, Masuda Y, Kusumoto-Matsuo R, Hanaoka F, Masutani C
  • Journal Title: Cell Rep Volume: 13 Issue: 10 Pages: 2072-2080
  • DOI: 10.1016/j.celrep.2015.11.014
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Structural basis of pyrimidine-pyrimidone (6-4) photoproduct recognition by UV-DDB in the nucleosome. (2015)
  • Author(s): Osakabe, A., Tachiwana, H., Kagawa, W., Horikoshi, N., Matsumoto, S., Hasegawa, M., Matsumoto, N., Toga, T., Yamamoto, J., Hanaoka, F., Thoma, N.H., Sugasawa, K., Iwai, S., Kurumizaka, H.
  • Journal Title: Scientific Reports Volume: 5 Issue: 1 Pages: 16330-16330
  • DOI: 10.1038/srep16330
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Different types of interaction between PCNA and PIP boxes contribute to distinct cellular functions of Y-family DNA polymerases. (2015)
  • Author(s): Masuda Y, Kanao R, Kaji K, Ohmori H, Hanaoka F, Masutani C
  • Journal Title: Nucleic Acids Res Volume: 43 Issue: 16 Pages: 7898-7910
  • DOI: 10.1093/nar/gkv712
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] The protein level of Rev1, a TLS polymerase in fission yeast, is strictly regulated during the cell cycle and after DNA damage. (2015)
  • Author(s): Uchiyama M, Terunuma J, Hanaoka F
  • Journal Title: PLoS One Volume: 10 Issue: 7 Pages: e0130000-e0130000
  • DOI: 10.1371/journal.pone.0130000
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Excision of translesion synthesis errors orchestrates responses to helix-distorting DNA lesions (2015)
  • Author(s): Anastasia Tsaalbi-Shtylik, Cristina Ferrás, Bea Pauw, Giel Hendriks, Piya Temviriyanukul, Leone Carlée, Fabienne Calléja, Sandrine van Hees, Jun-Ichi Akagi, Shigenori Iwai, Fumio Hanaoka, Jacob G. Jansen, and Niels de Wind
  • Journal Title: The Journal of Cell Biology Volume: 209 Issue: 1 Pages: 33-46
  • DOI: 10.1083/jcb.201408017
  • Peer Reviewed / Open Access
• [Journal Article] UV-induced mutations in epidermal cells of mice defective in DNA polymerase η and/or ι (2015)
  • Author(s): Kanao R, Yokoi M, Ohkumo T, Sakurai Y, Dotsu K, Kura S, Nakatsu Y, Tsuzuki T, Masutani C, Hanaoka F
  • Journal Title: DNA Repair (Amsterdam) Volume: S1568-7864(15) Pages: 00042-7
  • DOI: 10.1016/j.dnarep.2015.02.006
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Increased expression of PHD3 represses the HIF-1 signaling pathway and contributes to poor neovascularization in pancreatic ductal adenocarcinoma. (2015)
  • Author(s): Tanaka T, Li TS, Urata Y, Goto S, Ono Y, Kawakatsu M, Matsushima H, Hirabaru M, Adachi T, Kitasato A, Takatsuki M, Kuroki T, Eguchi S.
  • Journal Title: J Gastroenterol. Volume: 50 Issue: 9 Pages: 975-83
  • DOI: 10.1007/s00535-014-1030-3
  • NAID: 120006986909
  • Peer Reviewed / Open Access
• [Journal Article] The c-MYC-ABCB5 axis plays a pivotal role in 5-fluorouracil resistance in human colon cancer cells (2015)
  • Author(s): Kugimiya Naruji, Nishimoto Arata, Hosoyama Tohru, Ueno Koji, Enoki Tadahiko, Li Tao-Sheng, Hamano Kimikazu
  • Journal Title: Journal of Cellular and Molecular Medicine Volume: 19 Issue: 7 Pages: 1569-1581
  • DOI: 10.1111/jcmm.12531
  • NAID: 120006987017
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Time- and dose-dependent effects of total-body ionising radiation on muscle stem cells (2015)
  • Author(s): Masuda S, Hisamatsu T, Seko S, Urata Y, Goto S, Li TS & Ono Y
  • Journal Title: Physiol Rep Volume: 3(4) Issue: 4 Pages: e12377-e12377
  • DOI: 10.14814/phy2.12377
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] BRAFV600E mutation is highly prevalent in thyroid carcinomas in the young population in Fukushima: a different oncogenic profile from Chernobyl. (2015)
  • Author(s): Mitsutake N, Fukushima T, Matsuse M, Rogounovitch T, Saenko V, Uchino S, Ito M, Suzuki K, Suzuki S, Yamashita S
  • Journal Title: Sci Rep Volume: 5 Issue: 1 Pages: 16976-16976
  • DOI: 10.1038/srep16976
  • NAID: 120006986823
  • Peer Reviewed / Open Access
• [Journal Article] TCUKIN and CORGI Consortiums, Carmona LG; JTCMS Consortium: The 8q24 rs6983267G variant is associated with increased thyroid cancer risk. (2015)
  • Author(s): Sahasrabudhe R, Estrada A, Lott P, Martin L, Polanco Echeverry G, Velez A, Neta G, Takahasi M, Saenko V, Mitsutake N, Jaeguer E, Duque CS, Rios A, Bohorquez M, Prieto R, Criollo A, Echeverry M, Tomlinson I
  • Journal Title: Endocr Relat Cancer Volume: 22 Issue: 5 Pages: 841-849
  • DOI: 10.1530/erc-15-0081
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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
  • 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
  • Int'l Joint Research
• [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」
  • 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
• [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～
• [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
  • 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
  • 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」
  • Int'l Joint Research / Invited
• [Presentation] Human genetic disorders associated with deficiencies in the DNA repair system. (2017)
  • Author(s): Ogi T
  • Organizer: International Symposium on Immune Diversity and Cancer Therapy Kobe 2017
  • Place of Presentation: 神戸ポートピアホテル（兵庫県神戸市）
  • Year and Date: 2017-01-26
  • 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
  • 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
  • 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
  • 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」
  • 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
  • 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
  • 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
• [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
• [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
• [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
• [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
• [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
• [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
• [Presentation] DNA修復機構の異常と疾患 (2017)
  • Author(s): 荻朋男
  • Organizer: 太陽紫外線防御研究委員会第27回シンポジウム
  • Place of Presentation: 佐治敬三メモリアルホール（大阪府大阪市）
  • Invited
• [Presentation] DNA修復・損傷応答機構の異常により発症する疾患の病態解明. (2017)
  • Author(s): 荻朋男
  • Organizer: 奈良先端科学技術大学院大学ワークショップ
  • Place of Presentation: 奈良先端科学技術大学院大学（奈良県生駒市）
  • Invited
• [Presentation] DNA修復システムの異常により発症するヒト疾患の分子病態. (2016)
  • Author(s): 荻朋男
  • Organizer: 第39回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜（神奈川県横浜市）
  • Year and Date: 2016-11-30
  • Invited
• [Presentation] ゲノム不安定性を示す遺伝性疾患群の病態解析と新規疾患責任遺伝子変異探索. (2016)
  • Author(s): 中沢由華、岡泰由、郭朝万、賈楠、唐田清伸、嶋田繭子、宮﨑仁美、千住千佳子、荻朋男.
  • Organizer: 第39回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜（神奈川県横浜市）
  • Year and Date: 2016-11-30
• [Presentation] コケイン症候群と紫外線高感受性症候群の分子病態解析. (2016)
  • Author(s): 賈楠、中沢由華、郭朝万、唐田清伸、岡泰由、嶋田繭子、宮﨑仁美、千住千佳子、荻朋男.
  • Organizer: 第39回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜（神奈川県横浜市）
  • Year and Date: 2016-11-30
• [Presentation] トランスオミクス解析を用いた希少遺伝性疾患原因因子の新規同定法の開発. (2016)
  • Author(s): 岡泰由、郭朝万、賈楠、唐田清伸、中沢由華、荻朋男.
  • Organizer: 第39回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜（神奈川県横浜市）
  • Year and Date: 2016-11-30
• [Presentation] 新規のDNA 修復因子WDR4の欠損により発症する小頭症症例の分子病態 (2016)
  • Author(s): 荻朋男
  • Organizer: 国立遺伝学研究所・研究集会「生物ゲノム安定維持の分子機構」
  • Place of Presentation: 国立遺伝学研究所（静岡県三島市）
  • Year and Date: 2016-10-24
  • Invited
• [Presentation] ヒト WDR4 遺伝子の先天的な異常はゲノム不安定性に起因する発育異常を誘発する (2016)
  • Author(s): 荻朋男
  • Organizer: 第75回日本癌学会学術総会
  • Place of Presentation: パシフィコ横浜（神奈川県横浜市）
  • Year and Date: 2016-10-06
  • Invited
• [Presentation] ゲノム不安定性により先天性小頭症を示すヒト遺伝性疾患の症例解析と病態解明研究 (2016)
  • Author(s): 荻朋男
  • Organizer: 日本遺伝学会第88回大会
  • Place of Presentation: 日本大学国際関係学部（静岡県三島市）
  • Year and Date: 2016-09-07
  • Invited
• [Presentation] DNA損傷応答と遺伝病疾患 (2016)
  • Author(s): 荻朋男
  • Organizer: 平成28年度若手放射線生物学研究会専門研究会
  • Place of Presentation: 東京工業大学（東京都目黒区）
  • Year and Date: 2016-09-03
  • Invited
• [Presentation] 次世代ゲノム解析と精密質量分析を基盤としたマルチオミクスデータの臨床診断へ応用 (2016)
  • Author(s): 荻朋男
  • Organizer: サーモフィッシャーサイエンティフィック 質量分析フォーラム
  • Place of Presentation: ザ・リッツ・カールトン大阪（大阪府大阪市）, 東京コンファレンスセンター・品川（東京都港区）
  • Year and Date: 2016-08-02
  • Invited
• [Presentation] New DNA-repair gene mutations associated with Cokayne syndrome like progeroid disorders. (2016)
  • Author(s): Ogi T
  • Organizer: 2016 Spring International Conference of the Korean Society for Gerontology The 15th Korea-Japan Gerontologist Joint Meeting
  • Place of Presentation: Daegu（韓国）
  • Year and Date: 2016-06-15
  • Int'l Joint Research / Invited
• [Presentation] ハイコンテントイメージングシステムを利用した難治性遺伝性疾患の臨床診断 (2016)
  • Author(s): 荻朋男
  • Organizer: サーモフィッシャーサイエンティフィック バイオサイエンス事業本部2016HCAユーザーミーティング
  • Place of Presentation: サーモフィッシャーサイエンティフィック株式会社三田オフィス（東京都港区）、サーモフィッシャーサイエンティフィック株式会社大阪営業所（大阪府大阪市）
  • Year and Date: 2016-05-26
  • Invited
• [Presentation] Genetics disorders associated with defects in transcription coupled nucleotide excision repair. (2016)
  • Author(s): Ogi T
  • Organizer: 10th Quinquennial Conference on Responses to DNA damage: from molecule to disease
  • Place of Presentation: Egmond aan Zee（オランダ）
  • Year and Date: 2016-04-17
  • Int'l Joint Research / Invited
• [Presentation] TC-NER因子UVSSAによるRNAポリメラーゼIIのユビキチン化に関する分子機能解析. (2016)
  • Author(s): 郭朝万、中沢由華、嶋田繭子、唐田清伸、賈楠、岡泰由、宮﨑仁美、千住千佳子、荻朋男.
  • Organizer: 第39回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜（神奈川県横浜市）
• [Presentation] DNA修復システムの異常とゲノムDNAの不安定化により発症する疾患の分子病態 (2016)
  • Author(s): 荻朋男
  • Organizer: 第42回北里医学学会総会
  • Place of Presentation: 小田急ホテルセンチュリー相模大野（神奈川県相模原市）
  • Invited
• [Presentation] Human genetic disorders associated with deficiencies in the DNA repair system. (2016)
  • Author(s): Ogi T
  • Organizer: 上海交通大学医学院附属上海新華医院セミナー
  • Place of Presentation: Shanghai（中国）
  • Invited
• [Presentation] DNA修復の異常により発症するゲノム不安定性疾患の分子病態解明研究 (2016)
  • Author(s): 荻朋男
  • Organizer: 東北大学学際科学フロンティア研究所 第1回ワークショップ「多様な核酸サイエンス」
  • Place of Presentation: 東北大学（宮城県仙台市）
  • Invited
• [Presentation] 次世代マルチオミクス解析を用いた希少性難治性遺伝性疾患原因因子の新規同定法の開発 (2016)
  • Author(s): 荻朋男
  • Organizer: 第29回バイオメディカル分析化学シンポジウム ランチョンセミナー
  • Place of Presentation: 京都大学（京都府京都市）
  • Invited
• [Presentation] Human genetic disorders associated with deficiencies in the DNA repair system. (2016)
  • Author(s): 荻朋男
  • Organizer: 京都大学放射線生物研究センター第32回国際シンポジウム” Growing Edge of Radiation Biology, from principles to applications”
  • Place of Presentation: ホテルコープイン京都（京都府京都市）
  • Int'l Joint Research / Invited
• [Presentation] コケイン症候群のゲノム診断 (2016)
  • Author(s): 荻朋男
  • Organizer: 日本コケイン症候群ネットワーク勉強会
  • Place of Presentation: 東京ビジネスアットセンター東京駅（東京都千代田区）
  • Invited
• [Presentation] 「紫外線から遺伝子を守る」紫外線DNA損傷を修復する分子メカニズムとその破綻により発症する疾患の病態解明」. (2016)
  • Author(s): 荻 朋男
  • Organizer: 太陽紫外線防御研究委員会第26回シンポジウム
  • Place of Presentation: グランフロント大阪（大阪府大阪市）
  • Invited
• [Presentation] XRCC4欠損性遺伝性疾患の病態解析. (2015)
  • Author(s): 中沢由華、荻朋男、郭朝万、嶋田繭子、賈楠.
  • Organizer: 第44回日本環境変異原学会大会
  • Place of Presentation: 九州大学（福岡県福岡市）
  • Year and Date: 2015-11-27
• [Presentation] ファンコニ貧血経路におけるユビキチン様タンパク質UBL5の役割. (2015)
  • Author(s): 岡 泰由、荻 朋男、ベッカージェンセン シモン、メイランド ニールズ
  • Organizer: 第44回日本環境変異原学会大会
  • Place of Presentation: 九州大学（福岡県福岡市）
  • Year and Date: 2015-11-27
• [Presentation] Molecular cloning and characterisation of novel pathogenic genes for DNA repair deficient disorders. (2015)
  • Author(s): Ogi T
  • Organizer: The Fourth Forum of International Translational Genetic Medicine in Beijing
  • Place of Presentation: Beijing（China）
  • Year and Date: 2015-10-23
  • Invited
• [Presentation] ヒトXRCC4遺伝子機能の欠損は神経変性と強い放射線感受性を示すが正常な免疫機能を保持する (2015)
  • Author(s): 荻 朋男
  • Organizer: 第74回日本癌学会学術総会
  • Place of Presentation: 名古屋国際会議場（愛知県名古屋市）
  • Year and Date: 2015-10-08
  • Invited
• [Presentation] ゲノム不安定性疾患の症例収集と新規DNA修復遺伝子の同定 (2015)
  • Author(s): 荻 朋男
  • Organizer: 遺伝研研究集会
  • Place of Presentation: 国立遺伝学研究所（静岡県三島市）
  • Year and Date: 2015-10-01
  • Invited
• [Presentation] ゲノム不安定性を示す遺伝性疾患の症例収集と病態解析研究. (2015)
  • Author(s): 荻朋男、中沢由華、唐田清伸、郭朝万、岡泰由、賈楠、嶋田繭子、宮﨑仁美、千住千佳子.
  • Organizer: 第38回日本分子生物学会年会
  • Place of Presentation: 神戸ポートアイランド（兵庫県神戸市）
  • Invited
• [Presentation] ゲノム不安定性を示す難治性遺伝性疾患群の症例収集とゲノム・分子機能解析による病態解明研究 (2015)
  • Author(s): 中沢由華、荻朋男、唐田清伸、郭朝万、岡泰由、 賈楠、嶋田繭子、宮崎仁美、千住千佳子
  • Organizer: 第38回日本分子生物学会年会
  • Place of Presentation: 神戸ポートアイランド（兵庫県神戸市）
• [Presentation] 各種コケイン症候群の分子診断. (2015)
  • Author(s): 賈楠、中沢由華、荻朋男、唐田清伸、郭朝万、岡泰由、 嶋田繭子、 宮崎仁美、 千住千佳子.
  • Organizer: 第38回日本分子生物学会年会
  • Place of Presentation: 神戸ポートアイランド（兵庫県神戸市）
• [Presentation] XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. (2015)
  • Author(s): 郭朝万、中沢由華、嶋田繭子、賈楠、唐田清伸、 岡泰由、宮崎仁美、千住千佳子、荻朋男.
  • Organizer: 第38回日本分子生物学会年会
  • Place of Presentation: 神戸ポートアイランド（兵庫県神戸市）
• [Presentation] ゲノム不安定性を示す難治性遺伝性疾患群の症例収集とゲノム・分子機能解析による病態解明研究 (2015)
  • Author(s): 中沢由華、荻朋男、郭朝万、唐田清伸、岡泰由、 賈楠、嶋田繭子、宮崎仁美、千住千佳子
  • Organizer: 第23回DNA複製・組換え・修復ワークショップ
  • Place of Presentation: 焼津グランドホテル（静岡県焼津市）
• [Presentation] XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. (2015)
  • Author(s): 郭 朝万、中沢由華、嶋田繭子、賈 楠、唐田清伸、 岡 泰由、宮崎仁美、千住千佳子、荻 朋男.
  • Organizer: 第23回DNA複製・組換え・修復ワークショップ
  • Place of Presentation: 焼津グランドホテル（静岡県焼津市）
• [Presentation] 転写の異常により発症する疾患の診断法と分子病態 (2015)
  • Author(s): 荻 朋男
  • Organizer: 第67回日本皮膚科学会西部支部学術大会
  • Place of Presentation: 長崎ブリックホール（長崎県長崎市）
  • Invited
• [Remarks] 名古屋大学環境医学研究所HP
  • URL: http://www.riem.nagoya-u.ac.jp/index.html
• [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
• [Remarks] 名古屋大学ホームページ
  • URL: http://www.nagoya-u.ac.jp/about-nu/public-relations/researchinfo/upload_images/20150724_env.pdf
• [Remarks] 中日メディカルサイト. 活用広がる遺伝子診断.
  • URL: http://iryou.chunichi.co.jp/article/detail/20150826141838540