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山东大学 [3]
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期刊论文 [8]
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Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway
期刊论文
NATURE COMMUNICATIONS, 2018, 卷号: 9, 期号: 1, 页码: 114
作者:
Chen, Xuemei
;
Wang, Shuai
;
Zhou, Ying
;
Han, Yanfei
;
Li, Shengtian
收藏
  |  
浏览/下载:44/0
  |  
提交时间:2019/04/28
Linked Mental-retardation
Cleft lip/Cleft Palate
Synaptic Plasticity
Protein-synthesis
Cell-cycle
Gene
Mutations
Memory
Identification
Differentiation
CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome:A case report and review of literature
期刊论文
World Journal of Clinical Cases, 2018, 卷号: 6, 期号: 12, 页码: 570-576
作者:
Ying Sun
;
Yi-Dan Liu
;
Zhi-Feng Xu
;
Qing-Xia Kong
;
Yan-Ling Wang
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/11
Epilepsy
Language impairment
Mental retardation
De novo mutation of CNKSR2
X-linked epilepsy-aphasia syndrome
Familial cases and male cases with MECP2 mutations
期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2017
Zhang, Qingping
;
Zhao, Ying
;
Bao, Xinhua
;
Luo, Jinjun
;
Zhang, Xiaoying
;
Li, Jiarui
;
Wei, Liping
;
Wu, Xiru
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2017/12/03
clinical manifestations
pathogenic gene spectrum
phenotypic heterogeneity
Rett syndrome
X-linked mental retardation
LINKED MENTAL-RETARDATION
RETT-SYNDROME
HOT-SPOT
PHENOTYPE
GENE
ENCEPHALOPATHY
INACTIVATION
METHYLATION
DYSFUNCTION
SPASTICITY
Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients
会议论文
中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会
作者:
Jiang Baichun
;
Zhao Wei
;
Zhang Shuqian
;
Hu Huili
;
Shao Changshun
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/31
Neuron-specific Cul4b knockout mice recapture the cognitive impairment phenotype in human X-linked mental retardation patients
Roles of intracellular fibroblast growth factors in neural development and functions
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2012, 卷号: 55, 期号: 12, 页码: 1038-1044
作者:
Zhang, X
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2013/06/04
FACTOR HOMOLOGOUS FACTORS
GATED SODIUM-CHANNELS
MICE LACKING FIBROBLAST-GROWTH-FACTOR-14
LINKED MENTAL-RETARDATION
DORSAL-ROOT GANGLION
FOLLISTATIN-LIKE 1
NEURONAL MIGRATION
NEUROPATHIC PAIN
FACTOR FAMILY
INTELLECTUAL DISABILITY
Roles of intracellular fibroblast growth factors in neural development and functions
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2012, 卷号: 55, 期号: 12, 页码: 1038-1044
作者:
Zhang, X
;
Bao, L
;
Yang, L
;
Wu, QF
;
Li, S
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2015/07/22
fibroblast growth factors
nervous system
development
microtubule
ion channel
X-linked mental retardation
Structural insights into a novel histone demethylase PHF8
期刊论文
CELL RESEARCH, 2010, 卷号: 20, 期号: 2, 页码: 166-173
Yu, Lin
;
Wang, Yang
;
Huang, Shuo
;
Wang, Jianjun
;
Deng, Zengqin
;
Zhang, Qi
;
Wu, Wei
;
Zhang, Xingliang
;
Liu, Zhao
;
Gong, Weimin
;
龚为民
;
Chen, Zhongzhou
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2013/12/24
PHF8 (PHD finger protein 8)
histone demethylase
chromatin modification
methylated H3K9
crystal structure
X-linked mental retardation (XLMR)
facial anomalies
Phenylalanine activates the mitochondria-mediated apoptosis through the RhoA/Rho-associated kinase pathway in cortical neurons
期刊论文
EUROPEAN JOURNAL OF NEUROSCIENCE, 2007, 卷号: 25, 期号: 5, 页码: 1341-1348
Zhang, Yongjun
;
Gu, Xuefan
;
Yuan, Xiaobing
收藏
  |  
浏览/下载:18/0
  |  
提交时间:2012/07/23
apoptosis
phenylalanine
phenylketonuria
RhoA
Rho-associated kinase
LINKED MENTAL-RETARDATION
RHO-ASSOCIATED KINASE
SPINAL-CORD-INJURY
HIPPOCAMPAL-NEURONS
SIGNALING PATHWAYS
MYOSIN PHOSPHATASE
ENDOTHELIAL-CELLS
ENERGY-METABOLISM
PROTEIN-KINASE
EMBRYONIC RAT
A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of xp11.3-q22.3
期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 卷号: 129A, 期号: 3, 页码: 286-289
作者:
Zhang, XY
;
Liu, QJ
;
Chen, BX
;
Guo, CH
;
Li, JX
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
X-linked nonspecific mental retardation (MRX)
gene mapping
microsatellite markers
linkage analysis
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