Art

J-GLOBAL ID：201902258250055850   Reference number：19A1898643

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans

Srcファミリーキナーゼのメンバーにおける機能獲得変異はマウスおよびヒトにおける自己炎症性骨疾患を引き起こす【JST・京大機械翻訳】

Author (14)： Abe Koichiro (Department of Molecular Life Science, Tokai University School of Medicine, Isehara 259-1193, Kanagawa, Japan) ,  Cox Allison (Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, IA 52242) ,  Takamatsu Nobuhiko (School of Science, Kitasato University, Sagamihara 252-0373, Kanagawa, Japan) ,  Velez Gabriel (Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA 94304) ,  Velez Gabriel (Medical Scientist Training Program, University of Iowa Carver College of Medicine, Iowa City, IA 52242) ,  Laxer Ronald M. (Department of Pediatrics, Hospital for Sick Children, University of Toronto, ON M5G 1X8, Canada) ,  Tse Shirley M. L. (Department of Pediatrics, Hospital for Sick Children, University of Toronto, ON M5G 1X8, Canada) ,  Mahajan Vinit B. (Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, CA 94304) ,  Bassuk Alexander G. (Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, IA 52242) ,  Fuchs Helmut (Institute of Experimental Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Ferguson Polly J. (Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, IA 52242) ,  Hrabe de Angelis Martin (Institute of Experimental Genetics, Helmholtz Zentrum Muenchen, 85764 Neuherberg, Germany) ,  Hrabe de Angelis Martin (Chair of Experimental Genetics, School of Life Science Weihenstephan, Technische Universitaet Muenchen, 85354 Freising, Germany) ,  Hrabe de Angelis Martin (German Center for Diabetes Research, 85764 Neuherberg, Germany)
Material： Proceedings of the National Academy of Sciences of the United States of America  (PNAS)
Volume： 116  Issue： 24  Page： 11872-11877  Publication year： 2019 
JST Material Number： D0387A  ISSN： 0027-8424  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Autoinflammatory syndromes are...

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Thesaurus term： *Mus musculus ,  Proteins ,  Mutation ,  targeting ,  wild type ,  Phenotype ,  therapy ,  Recurrence ,  screening (inspection) ,  *Inflammation ,  *human ,  *kinase ,  candidate gene ,  *Genetic Variation ,  *Myomorpha
Semi thesaurus term： *variation(biology) ,  阻害剤 , 【Automatic Indexing@JST】

Author keywords (5)： chronic recurrent multifocal osteomyelitis ,  autoinflammation ,  mouse model ,  tyrosine kinase ,  bone destruction

JST classification (1)： Immunological reaction in general  (ED03010T)

Terms in the title (9)： srcファミリーキナーゼ ,  メンバー ,  獲得 ,  変異 ,  マウス ,  ヒト ,  自己 ,  炎症 ,  骨疾患