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中南大学 [5]
吉林大学白求恩第三医... [2]
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山东大学 [1]
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期刊论文 [10]
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Construction of Cu-based MOFs with enhanced hydrogenation performance by integrating open electropositive metal sites
期刊论文
CRYSTENGCOMM, 2019, 卷号: 21, 期号: 36, 页码: 5382-5386
作者:
Zhang, Xiuling
;
Geng, Longlong
;
Zhang, Yong-Zheng
;
Zhang, Da-Shuai
;
Zhang, Ranhui
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/11
A novel mutation of GATA4 (K300T) associated with familial atrial septal defect
期刊论文
GENE, 2016, 卷号: 575, 期号: 2
作者:
Liu, Wei
;
Chen, Jia
;
Qi, Bingyang
;
Zhao, Juan
;
Duan, Ranhui
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/05
Ventricular septal defect
Incomplete penetrance
Whole exome sequencing
Post-translational modification
Methylation
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia
期刊论文
PLOS ONE, 2016, 卷号: 11, 期号: 2, 页码: e0149039
作者:
Duan, Ranhui*
;
Shi, Yuting
;
Yu, Li
;
Zhang, Gehan
;
Li, Jia
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/03
RNA interference,Drosophila melanogaster,Climbing,Ataxia,Atrophy,Cerebellar ataxia,Neuromuscular junctions,Phenotypes
A novel mutation of GATA4 (K300T) associated with familial atrial septal defect
期刊论文
Gene, 2015, 卷号: 575, 期号: 2, 页码: 473-477
作者:
Chen, Jia
;
Qi, Bingyang
;
Zhao, Juan
;
Liu, Wei
;
Duan, Ranhui*
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/03
CHD
congenital heart diseases
ToF
tetralogy of Fallot
ASD
atrial septal defect
VSD
ventricular septal defect
AVSD
atrioventricular septal defect
DCM
dilated cardiomyopathy
HGMD
human gene mutation database
dbSNP
database of Single Nucleotide Polymorphisms
EVSD
Exome Variant Server Database
NLS
nuclear localization signal
SNP
Single nucleotide polymorphism
GATK
Genome Analysis Toolkit
PolyPhen-2
Polymorphism Phenotyping v2
SIFT
Sorting Intolerant From Tolerant
TAD
transcription activation domain
N-Znf
N-terminal zinc finger
C-Znf
C-terminal zinc finger
Ventricular septal defect
Incomplete penetrance
Whole exome sequencing
Post-translational modification
Methylation
Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
期刊论文
BMC MEDICAL GENETICS, 2014, 卷号: 15
作者:
Si, Dayong
;
Zhang, Mingqiu
;
Chen, Jia
;
Zheng, Yu
;
Jiao, Haixu
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
Dilated cardiomyopathy
Emery-Dreifuss muscular dystrophy
EMD gene
Novel mutation
Whole exome sequencing
Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
期刊论文
BMC Medical Genetics, 2014, 卷号: 15, 期号: 1, 页码: 77-
作者:
Zhang, Mingqiu
;
Chen, Jia
;
Si, Dayong
;
Zheng, Yu
;
Jiao, Haixu
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/03
Dilated cardiomyopathy
EMD gene
Emery-Dreifuss muscular dystrophy
Novel mutation
Whole exome sequencing
miR-25 alleviates polyQ-mediated cytotoxicity by silencing ATXN3
期刊论文
FEBS Letters, 2014, 卷号: 588, 期号: 24, 页码: 4791-4798
作者:
Huang, Fengzhen
;
Zhang, Li
;
Long, Zhe
;
Chen, Zhao
;
Hou, Xuan
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/03
Spinocerebellar ataxia type 3/Machado–Joseph disease
ATXN3
Cytotoxicity
Neuronal intranuclear inclusion
miR-25
Gene expression regulation
miR-25 alleviates polyQ-mediated cytotoxicity by silencing ATXN3
期刊论文
FEBS Letters, 2014, 卷号: 588, 期号: 24, 页码: 4791-4798
作者:
Huang, Fengzhen
;
Zhang, Li
;
Long, Zhe
;
Chen, Zhao
;
Hou, Xuan
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/27
ATXN3
Cytotoxicity
Gene expression regulation
Neuronal intranuclear inclusion
Spinocerebellar ataxia type 3/Machado-Joseph disease
miR-25
MicroRNA/mRNA profiling and regulatory network of intracranial aneurysm
期刊论文
BMC Medical Genomics, 2013, 卷号: 6, 期号: 1, 页码: 36
作者:
Jiang, Yugang
;
Zhang, Mingming
;
He, Hua
;
Chen, Jia
;
Zeng, Hua
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/03
Inflammation
Intracranial aneurysm
Microarray analysis
miRNA-mRNA analysis
A small molecule enhances RNA interference and promotes microRNA processing
期刊论文
nature biotechnology, 2008
Shan, Ge
;
Li, Yujing
;
Zhang, Junliang
;
Li, Wendi
;
Szulwach, Keith E.
;
Duan, Ranhui
;
Faghihi, Mohammad A.
;
Khalil, Ahmad M.
;
Lu, Lianghua
;
Paroo, Zain
;
Chan, Anthony W. S.
;
Shi, Zhangjie
;
Liu, Qinghua
;
Wahlestedt, Claes
;
He, Chuan
;
Jin, Peng
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2015/11/16
MICROARRAY ANALYSIS
COMPLEX
MATURATION
PROTEIN
MICE
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