Art

J-GLOBAL ID：201902243291309872   Reference number：19A0143076

Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice

CD2APにおける劣性突然変異はヒトおよびマウスにおける巣状分節性糸球体硬化症を引き起こす【JST・京大機械翻訳】

Author (17)： Takano Tomoko (Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada) ,  Takano Tomoko (Research Institute, McGill University Health Centre, Montreal, Quebec, Canada) ,  Bareke Eric (Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada) ,  Takeda Naoki (Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan) ,  Aoudjit Lamine (Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada) ,  Baldwin Cindy (Research Institute, McGill University Health Centre, Montreal, Quebec, Canada) ,  Pisano Philip (Research Institute, McGill University Health Centre, Montreal, Quebec, Canada) ,  Matsuda Jun (Research Institute, McGill University Health Centre, Montreal, Quebec, Canada) ,  El Andalousi Jasmine (Research Institute, McGill University Health Centre, Montreal, Quebec, Canada) ,  El Andalousi Jasmine (Department of Pediatrics, Montreal Children’s Hospital, Montreal, Quebec, Canada) ,  Muhtadie Lina (Department of Medicine, Lakeshore General Hospital, Montreal, Quebec, Canada) ,  Bernard Chantal (Department of Pathology, McGill University Health Centre, Montreal, Quebec, Canada) ,  Majewski Jacek (Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montreal, Quebec, Canada) ,  Miyazaki Toru (Molecular Biomedicine for Pathogenesis, Center for Disease Biology and Integrative Medicine, University of Tokyo, Tokyo, Japan) ,  Yamamura Ken-ichi (Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan) ,  Gupta Indra R. (Research Institute, McGill University Health Centre, Montreal, Quebec, Canada) ,  Gupta Indra R. (Department of Pediatrics, Montreal Children’s Hospital, Montreal, Quebec, Canada)
Material： Kidney International  (Kidney Int)
Volume： 95  Issue： 1  Page： 57-61  Publication year： 2019 
JST Material Number： E0559B  ISSN： 0085-2538  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Although sequence variants in ...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=19A0143076&from=J-GLOBAL&jstjournalNo=E0559B") }}

Thesaurus term： *human ,  Frameshift Mutation ,  renal insufficiency ,  Causality ,  *Mutation ,  *recessive ,  Consanguinity ,  childhood ,  Exosomes ,  sequence mutation ,  *CD2AP
Semi thesaurus term： 同胞 ,  両親 ,  ESRD ,  発症 , 【Automatic Indexing@JST】

Author keywords (4)： CD2AP ,  CRISPR/Cas9 ,  FSGS ,  gene editing

JST classification (2)： Molecular genetics in general  (EC02010J) ,  Basic medicine on urogenital system  (GM01020T)

Terms in the title (4)： CD2AP ,  ヒト ,  マウス ,  巣状分節性糸球体硬化症