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J-GLOBAL ID：202002239448109525   Reference number：20A1044722

Point mutagenesis in mouse reveals contrasting pathogenetic effects between MEN2B- and Hirschsprung disease-associated missense mutations of the RET gene

マウスにおける点突然変異誘発はRET遺伝子のMEN2BおよびHirschsprung病関連ミスセンス突然変異との間で対照的な病原的影響を明らかにする

Author (11)： Nakatani Taichi (Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Nakatani Taichi (Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Iwasaki Mitsuhiro (Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Yamamichi Atsuhiro (Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Yoshioka Yuta (Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Uesaka Toshihiro (Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Bitoh Yuko (Division of Pediatric Surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Maeda Kosaku (Department of Surgery, Hyogo Prefectural Kobe Children’s Hospital, Kobe, Japan) ,  Fukumoto Takumi (Division of Hepato-Biliary-Pancreatic surgery, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan) ,  Takemoto Tatsuya (Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan) ,  Enomoto Hideki (Division for Neural Differentiation and Regeneration, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Japan)
Material： Development, Growth & Differentiation  (Dev Growth Differ)
Volume： 62  Issue： 4  Page： 214-222  Publication year： May. 2020 
JST Material Number： W0832A  ISSN： 0012-1592  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： Hirschsprung disease ,...
Semi thesaurus term： RETタンパク質 ,...

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Author keywords (5)： gene mutation ,  genome editing ,  Hirschsprung disease ,  multiple endocrine neoplasia ,  RET

JST classification (3)： Genetic variation  (EC01030Y) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Biological function  (EB03040U)

Terms in the title (7)： マウス ,  点突然変異 ,  誘発 ,  RET遺伝子 ,  Hirschsprung病 ,  ミスセンス突然変異 ,  対照