Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.

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作者： Yaoting,Chen ^[1] ; Jiang,Chen ^[2] ; Lili,Liang ^[1] ; Weiqian,Dai ^[1] ; Nan,Li ^[1] ; Shuangshuang,Dong ^[1] ; Yongkun,Zhan ^[3] ; Guiquan,Chen ^[4] ; Yongguo,Yu ^[5]

作者单位： Department of Pediatric Endocrinology and Genetics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; Shanghai Institute for Pediatric Research, Shanghai 200092, China. ^[1] Department of Neurology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, Jiangsu 210008, China. ^[2] Department of Pediatric Endocrinology and Genetics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address: zhanyongkun@xinhuamed.com.cn. ^[3] MOE Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing, Jiangsu 210061, China. Electronic address: chenguiquan@nju.edu.cn. ^[4] Department of Pediatric Endocrinology and Genetics, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; Shanghai Institute for Pediatric Research, Shanghai 200092, China. Electronic address: yuyongguo@shsmu.edu.cn. ^[5]

关键词 CaMKII signaling Intellectual disability Learning and memory NTNG2 Synaptic plasticity

主题词动物(Animals);钙-钙调素依赖性蛋白激酶2型(Calcium-Calmodulin-Dependent Protein Kinase Type 2);小鼠(Mice);杂合子(Heterozygote);突变(Mutation);信号传导(Signal Transduction);人类(Humans);男(雄)性(Male);女(雌)性(Female);疾病模型, 动物(Disease Models, Animal);神经元可塑性(Neuronal Plasticity)

DOI 10.1016/j.jgg.2024.08.001

PMID 39151821

发布时间 2024-11-17

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Journal of genetics and genomics = Yi chuan xue bao

2024年51卷11期

1204-1214页

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Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.

Journal of genetics and genomics = Yi chuan xue bao

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Journal of genetics and genomics = Yi chuan xue bao

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Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.

Journal of genetics and genomics = Yi chuan xue bao

相似文献

Journal of genetics and genomics = Yi chuan xue bao

相关期刊

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