研究概要

研究テーマ

• マウスにおける体系的かつ網羅的な表現型解析プラットフォームの開発
• 国際標準マウス表現型解析プロトコール（SOP）の整備
• 国際マウス表現型解析コンソーシアム(IMPC)参画による国際貢献
• 環境因子(特に妊娠期栄養条件)のマウス表現型への影響(DOHaD)

主要論文

• 1.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 2017, 49: 1231-1238.
  
• 2.Karp NA. et al. and The International Mouse Phenotyping Consortium (IMPC).:
  “Prevalence of sexual dimorphism in mammalian phenotypic traits.”
  Nature Communications 2017, 8: 15475.
• 3.Fujihira H. Masahara-Negishi Y. Tamura M. Harada Y. Chengcheng H. Wakana S. Taniguchi N. Kondoh G. Yamashita T. Funakoshi Y. and Suzuki T.:
  “Lethality of mice bearing a knockout of the Ngly1-gene is rescued by the additional deletion of the Engase gene.”
  PLoS Genetics. 2017 13: e1006696
• 4.Kitazawa M. Tamura M. Kaneko-Ishino T. and Ishino F.:
  “Severe damage to the placental fetal capillary network causes mid to late fetal lethality and reduction of placental size in Peg11/Rtl1 KO mice.”
  Genes to Cells 2017, 22: 174-188.
• 5.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. de Angelis MH. 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, 2016 537: 508-514
• 6.Tamura M. and Shiroishi T.:
  “GSDM family genes meet autophagy.”
  Biochemical Journal, 2015 469: e5-e7
• 7.Xie Z. Liang X. Guo L. Kitamoto A. Tamura M. Shiroishi T. and Gillies D.:
  “An automatic classification framework for ventricular septal defects: a pilot study on high-throughput mouse embryo cardiac phenotyping.”
  Journal of Medical Imaging, 2015 2 (4): 041003
• 8.Tamura M. Amano T. and Shiroishi T.:
  The Hand2 gene dosage effect in developmental defects and human congenital disorders.”
  Current Topics in Developmental Biology, 2014 110: 129-152
• 9.Nabeshima Y. Washida M. Tamura M. Yurugi K. Ohnishi M. Maeno A. St-Arnaud S. Shiroishi T. Razzaque MS. Imura A. and Nabeshima Y.:
  “Calpain 1 inhibitor, BDA-410 restores a-klotho deficient phenotypes resembling to human aging related syndromes.”
  Scientific Reports, 2014 4: 5847
• 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, 2013 22: 2471-2481

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