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昆明动物研究所 [5]
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期刊论文 [12]
学位论文 [1]
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浏览/检索结果:
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Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 页码: 11
作者:
Guo, Liyuan
;
Jin, Bo
;
Zhang, Yidan
;
Wang, Jing
收藏
  |  
浏览/下载:26/0
  |  
提交时间:2020/10/22
ARSA gene mutation
bioinformatics analysis
expression profiling
Metachromatic leukodystrophy
mutation effect prediction
Non-disruptive mutation in TP53 DNA-binding domain is a beneficial factor of esophageal squamous cell carcinoma
期刊论文
ANNALS OF TRANSLATIONAL MEDICINE, 2020, 卷号: 8
作者:
Huang, Minran
;
Jin, Jiaoyue
;
Zhang, Fanrong
;
Wu, Yingxue
;
Xu, Chenyang
收藏
  |  
浏览/下载:29/0
  |  
提交时间:2020/11/26
Esophageal squamous cell carcinoma (ESCC)
TP53 mutation
next-generation sequencing (NGS)
prognosis
Hybrid method to solve HP model on 3D lattice and to probe protein stability upon amino acid mutations
期刊论文
BMC SYSTEMS BIOLOGY, 2017, 卷号: 11, 页码: 13
作者:
Guo, Yuzhen
;
Tao, Fengying
;
Wu, Zikai
;
Wang, Yong
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2018/07/30
Protein structure prediction
HP model
3D lattice
Particle swarm optimization
Protein stability
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia
期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 6, 页码: 295-306
作者:
Tang, Jinsong
;
Fan, Yu
;
Li, Hong
;
Xiang, Qun
;
Zhang, Deng-Feng
收藏
  |  
浏览/下载:58/0
  |  
提交时间:2017/08/07
Whole-genome sequencing
Schizophrenia
Monozygotic twin
De novo mutation
Combined effect
Susceptibility
Competitive Inhibition Mechanism of Acetylcholinesterase without Catalytic Active Site Interaction: Study on Functionalized C-60 Nanoparticles via in Vitro and in Silico Assays
期刊论文
ACS APPLIED MATERIALS & INTERFACES, 2017, 卷号: 9, 期号: 22, 页码: 18626-18638
作者:
Liu, Yanyan
;
Yan, Bing
;
Winkler, David A.
;
Fu, Jianjie
;
Zhang, Aigian
收藏
  |  
浏览/下载:18/0
  |  
提交时间:2018/07/26
C-60 Nanoparticle
Acetylcholinesterase
Competitive Inhibition
Peripheral Anionic Site
Quantitative Nanostructure-activity Relationship
Molecular Docking
Site-directed Mutation
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia
期刊论文
Journal of Genetics and Genomics, 2017, 卷号: 44, 期号: X, 页码: 295-306
作者:
Xiang Q
;
Zhang DF
;
yanqingtang@163.com
;
rckchan@psych.ac.cn
;
Cwang.cy@163.net
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  |  
浏览/下载:58/0
  |  
提交时间:2017/06/26
Whole-genome Sequencing
Schizophrenia
Monozygotic Twi
De Novo Mutatio
Combined Effec
Susceptibility
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia
期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 6, 页码: 295-306
作者:
Tang Jinsong
;
Fan Yu
;
Li Hong
;
Xiang Qun
;
Zhang DengFeng
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2021/02/02
DE-NOVO MUTATIONS
STRUCTURAL VARIANT DISCOVERY
WIDE ASSOCIATION
PSYCHIATRIC-DISORDERS
SYNAPTIC PLASTICITY
BIPOLAR DISORDER
PROTEIN FUNCTION
COMPLEX TRAITS
MESSENGER-RNA
HUMAN-DISEASE
Whole-genome sequencing
Schizophrenia
Monozygotic twin
De novo mutation
Combined effect
Susceptibility
Integration of somatic mutation, expression and functional data reveals potential driver genes predictive of breast cancer survival
期刊论文
bioinformatics oxford england, 2015
Suo Chen
;
Hrydziuszko Olga
;
Lee Donghwan
;
Pramana Setia
;
Saputra Dhany
;
Joshi Himanshu
;
Calza Stefano
;
Pawitan Yudi
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2015/11/13
Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?
期刊论文
PLOS ONE, 2011, 卷号: 6, 期号: 10, 页码: e26511
作者:
Zhang AM
;
Bandelt HJ
;
Yu DD
;
Wang D
;
Zhuang XY
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2016/03/22
中国Leber 氏遗传性视神经病人群mtDNA 突变和遗传背景影响发病的研究
学位论文
博士, 北京: 中国科学院研究生院, 2010
作者:
张阿梅
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2013/04/25
LHON
线粒体DNA
单倍型类群
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