Art

J-GLOBAL ID：201702290419426964   Reference number：17A0777248

An ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes

ENUで誘発されるマウスTgfb1遺伝子のp.C225Sミスセンス変異はカムラチ・エンゲルマン病様の骨格表現形の原因ではない

Author (7)： ICHIMURA Satoki (Laboratory of Laboratory Animal Science and Medicine, Co-Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, 3-18-8 Ueda, Morioka, Iwate 020-8550, Japan) ,  SASAKI Shun (Laboratory of Laboratory Animal Science and Medicine, Co-Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, 3-18-8 Ueda, Morioka, Iwate 020-8550, Japan) ,  MURATA Takuya (Mutagenesis and Genomics Team, RIKEN BioResource Center, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan) ,  FUKUMURA Ryutaro (Mutagenesis and Genomics Team, RIKEN BioResource Center, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan) ,  GONDO Yoichi (Mutagenesis and Genomics Team, RIKEN BioResource Center, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan) ,  IKEGAWA Shiro (Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan) ,  FURUICHI Tatsuya (Laboratory of Laboratory Animal Science and Medicine, Co-Department of Veterinary Medicine, Faculty of Agriculture, Iwate University, 3-18-8 Ueda, Morioka, Iwate 020-8550, Japan)
Material： Experimental Animals  (実験動物ニュース)
Volume： 66  Issue： 2  Page： 137-144(J-STAGE)  Publication year： 2017 
JST Material Number： Z0755A  ISSN： 1341-1357  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： mouse(animal) ,...
Semi thesaurus term： Camurati-Engelmann Syndrome ,...

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Author keywords (3)： Camurati-Engelmann disease ,  ENU-mutagenized mice ,  TGF-β1

JST classification (1)： Bioactive peptides  (EB08100U)

Reference (28)：

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• 3. Cannaerts E., van de Beek G., Verstraeten A., Van Laer L., and Loeys B. 2015. TGF-β signalopathies as a paradigm for translational medicine. Eur. J. Med. Genet. 58: 695-703.
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• 5. Crane J.L. and Cao X. 2014. Bone marrow mesenchymal stem cells and TGF-β signaling in bone remodeling. J. Clin. Invest. 124: 466-472.

Terms in the title (8)： ENU ,  誘発 ,  マウス ,  遺伝子 ,  ミスセンス変異 ,  骨格 ,  表現形 ,  原因