研究概要

主要論文

「*」は、理研外のみでの成果です。

• 1. Watanabe C. Shibuya H. Ichiyama Y. Okamura E. Tsukiyama-Fujii S. Tsukiyama T. MatsumotoS. Matsushita J. Azami T. Kubota Y. Ohji M. Sugiyama F. Takahashi S. Mizuno S. Tamura M. Mizutani K. and Ema M.:
  "Essential roles of Exocyst complex component 3-like 2 on cardiovascular development in mice."
  Life 12, 1730 (2022).
• 2. Birling MC. Yoshiki A. Adams D. Ayabe S. Beaudet AL. Bottomley J. Bradley A. Brown SDM. Bürger A. Bushell W. Chiani F. Christou S. Codner GF. DeMayo FJ. Dickinson ME. Doe B. Donahue LR. Fray MD. Gambadoro A. Gertsenstein M. Gomez-Segura A. Goodwin LO. Heaney JD. Hérault Y. Hrabé de Angelis M. Justice MJ. King RE. Kühn R. Lee H. Lee YJ. Lloyd KCK. Lorenzo I. Mallon AM. McKerlie C. Meehan TF. Nutter LMJ. Oh GT. Pavlovic G. Ramirez-Solis R. Rosen B. Ryder EJ. Santos LA. Schick J. Seavitt JR. Seong JK. Skarnes WC. Steel K. Tamura M. Tocchini-Valentini GP. Wang CKL. Wardle-jones H. Wattenhofer-donze M. Wells S. Willis BJ. Wood JA. Wurst W. The International Mouse Phenotyping Consortium. Teboul L. and Murray SA.:
  "A resource of targeted mutant mouse lines for 5,061 genes."
  Nature Genetics 53, 416–419 (2021).
• 3. Matsumura K. Seiriki K. Okada S. Nagase M. Ayabe S. Yamada I. Furuse T. Shibuya H. Yasuda Y. Yamamori H. Fujimoto M. Nagayasu K. Yamamoto K. Kitagawa K. Miura H. Gotoda-Nishimura N. Igarashi H. Hayashida M. Baba M. Kondo M. Hasebe S. Ueshima K. Kasai A. Ago Y. Hayata-Takano A. Shintani N. Iguchi T. Sato M. Yamaguchi M. Tamura M. Wakana S. Yoshiki A. Watabe A. Okano H. Takuma K. Hashimoto R. Hashimoto H. and Nakazawa T.:
  "Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes."
  Nature Communications 11, 859 (2020)
• 4. Haselimashhadi H. Mason J. Munoz-Fuentes V. Lopez-Gomez F. Babalola K. Acar E. Kuma V. White J. Flenniken A. King R. Straiton E. Seavitt JR. Gaspero A. Garza A. Christiansen A. Hsu CW. Reynolds C. Lanza D. Lorenzo I. Green J. Gallegos J. Bohat R. Samaco R. Veeraragavan S. Kim JK. Miller G. Fuchs H. Garrett L. Becker L. Kang YK. Clary D. Soo Y.,Tamura M. Tanaka N. Kyoung DS. Bezginov A. Bou About G. Champy MF. Vasseur L. Leblanc S. Meziane H. Selloum M. Reilly P. Spielmann N. Maier H. Gailus-Durner V. Sorg T. Masuya H. Obata Y. Heaney J. Dickinson M. Wurst W. Tocchini-Valentini G. Lloyd KCK. McKerlie C. Seong JK. Hérault Y. Hrabé de Angelis M. Brown S. Smedley D. Flicek P. Mallon AM. Parkinson H. and Meehan T.:
  "Soft Windowing Application to Improve Analysis of High-throughput Phenotyping Data."
  Bioinformatics, btz744 (2019).
• 5. Kishimoto K. Tamura M. Nishita M. Minami Y. Yamaoka A. Abe T. Shigeta M. and Morimoto M.:
  "Synchronized mesenchymal cell polarization and differentiation shape the formation of the murine trachea and esophagus."
  Nature Communications 9, 2816 (2018).
• 6. Meehan, TF. et al. and The International Mouse Phenotyping Consortium (IMPC).:
  "Disease Model Discovery from 3,328 Gene Knockouts by The International Mouse Phenotyping Consortium."
  Nature Genetics 49, 1231-1238 (2017).
• 7. Dickinson ME. Flenniken AM. Ji X. Teboul L. Wong MD. White JK. Meehan TF. Weninger WJ. Westerberg H. Adissu H. Baker CN. Bower L. Brown JM. Caddle LB. Chiani F. Clary D. Cleak J. Daly MJ. Denegre JM. Doe B. Edie SM. Fuchs H. Gailus-Durner V. Galli A. Gambadaro A. Gallegos J. Guo S. Horner NR. Hsu Cw. Johnson SJ. Kalaga S. Keith LC. Lanoue L. Lawson TN. Lek M. Mark M. Marschall S. Mason J. McElwee ML. Newbigging S. Nutter LMJ. Peterson KA. Ramirez-Solis R. Rowland DJ. Ryder E. Samocha KE. Seavitt JR. Selloum M. Szoke-Kovacs Z. Tamura M. Trainor AG. Tudose I. Wakana S. Warren J. Wendling O. West DB. Wong L. Yoshiki A. The International Mouse Phenotyping Consortium, MacArthur DG. Tocchini-Valentini GP. Gao X. Flicek P. Justice M. Parkinson HE. Moore M. Wells S. Braun RE. Svenson K. Hrabé de Angelis M. Herault Y. Mohun T. Mallon AM. Henkelman RM. Brown SD. Adams D. Lloyd KCK. McKerlie C. Beaudet AL. Bucan M. and Murray SA.:
  "High-throughput discovery of novel developmental phenotypes."
  Nature 537, 508-514 (2016).
• 8. Tamura M. and Shiroishi T.:
  "GSDM family genes meet autophagy."
  Biochemical Journal 469, e5-e7 (2015).
• 9. Tamura M. Amano T. and Shiroishi T.:
  "The Hand2 gene dosage effect in developmental defects and human congenital disorders."
  Current Topics in Developmental Biology110, 129-152 (2014).
• 10. *Tamura M. Hosoya M. Fujita M. Iida T. Amano T. Maeno A. Kataoka T. Otsuka T. Tanaka S, Tomizawa S. and Shiroishi T.:
  "Over-dosage of Hand2 causes limb and heart defects in human chromosomal disorder, partial trisomy distal 4q."
  Human Molecular Genetics 22, 2471-2481 (2013).

研究成果（プレスリリース）

• 

  2017年4月22日
  NGLY1欠損症の治療標的候補の発見

• 

  2016年9月20日
  マウスで難病遺伝子を探索

イベント・シンポジウムなど

関連リンク

メンバーリスト

お問い合わせ先