AMBRA1 p.Gln30Arg Mutation, Identified in a Cowden Syndrome Family, Exhibits Hyperproliferative Potential in hTERT-RPE1 Cells.

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作者： Sundaramoorthy,Revathidevi ^[1] ; Kazuyoshi,Hosomichi ^[2] ; Toyoaki,Natsume ^[3] ; Hirofumi,Nakaoka ^[4] ; Naoko T,Fujito ^[5] ; Hisako,Akatsuka ^[1] ; Takehito,Sato ^[6] ; Arasambattu Kannan,Munirajan ^[6] ; Ituro,Inoue ^[7]

作者单位： Human Genetics Laboratory, National Institute of Genetics, Mishima 411-8540, Japan. ^[1] Laboratory of Computational Genomics, Tokyo University of Pharmacy and Life Sciences, Hachioji 192-0392, Japan. ^[2] Molecular Cell Engineering Laboratory, National Institute of Genetics, Mishima 411-8540, Japan. ^[3] Research Center for Genome & Medical Sciences, Tokyo Metropolitan Institute of Medical Science, Tokyo 156-8506, Japan. ^[4] Department of Cancer Genome Research, Sasaki Institute, Sasaki Foundation, Chiyoda 101-0062, Japan. ^[5] Division of Host Defense Mechanism, Tokai University School of Medicine, Isehara 259-1193, Japan. ^[6] Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai 600113, India. ^[7]

关键词 AMBRA1 AMBRA1 Q30R mutant CRISPR/Cas Cowden syndrome G1/S transition primary cilia

主题词动物(Animals);生殖细胞系突变(Germ-Line Mutation);错构瘤综合征, 多发性(Hamartoma Syndrome, Multiple);突变(Mutation);PTEN磷酸水解酶(PTEN Phosphohydrolase);RNA指导的DNA聚合酶(RNA-Directed DNA Polymerase);斑马鱼(Zebrafish)

DOI 10.3390/ijms231911124

PMID 36232425

发布时间 2022-10-19

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