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昆明动物研究所 [6]
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湖南大学 [4]
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学位论文 [4]
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A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family
期刊论文
Brain Research Bulletin, 2019
作者:
Yuan-Tao Huang
;
Li-Hua Zhang
;
Mei-Fang Li
;
Lin Cheng
;
Guo-Ying Zou
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2019/12/13
brain
calcification
idiopathic
basal
ganglia
calcification
primary
familial
brain
calcification
splicing
variant
SLC20A2
Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia
期刊论文
Archives of Oral Biology, 2019, 卷号: Vol.100, 页码: 49-56
作者:
Tingting Zhang
;
Jing Wu
;
Xiaoxue Zhao
;
Feifei Hou
;
Tengfei Ma
收藏
  |  
浏览/下载:31/0
  |  
提交时间:2019/12/17
Cleidocranial
dysplasia
RUNX2
Splice-site
mutation
Whole-exome
sequencing
IBSP
Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia.
期刊论文
Archives of oral biology, 2019, 卷号: Vol.100, 页码: 49-56
作者:
Tingting Zhang
;
Jing Wu
;
Xiaoxue Zhao
;
Feifei Hou
;
Tengfei Ma
收藏
  |  
浏览/下载:15/0
  |  
提交时间:2019/12/17
Cleidocranial dysplasia
IBSP
RUNX2
Splice-site mutation
Whole-exome sequencing
A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.
期刊论文
Brain research bulletin, 2019
作者:
Yuan-Tao Huang
;
Li-Hua Zhang
;
Mei-Fang Li
;
Lin Cheng
;
Guo-Ying Zou
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/13
SLC20A2
brain
calcification
idiopathic
basal
ganglia
calcification
primary
familial
brain
calcification
splicing
variant
Parallel Evolution of Common Allelic Variants Confers Flowering Diversity in Capsella rubella
期刊论文
PLANT CELL, 2018, 卷号: 30, 期号: 6, 页码: 1322-1336
作者:
Yang, Li
;
Wang, Hui-Na
;
Hou, Xing-Hui
;
Zou, Yu-Pan
;
Han, Ting-Shen
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2022/02/25
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
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
收藏
  |  
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
视神经萎缩患者OPA1基因突变与功能验证
学位论文
硕士, 北京: 中国科学院研究生院, 2014
作者:
胡秋香
收藏
  |  
浏览/下载:170/0
  |  
提交时间:2014/07/15
常染色体显性视神经萎缩
OPA1基因
突变
线粒体
Effective Expression-Independent Gene Trapping and Mutagenesis Mediated by Sleeping Beauty Transposon
期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2012, 卷号: 39, 期号: 9, 页码: 503-520
作者:
Song, Guili
;
Li, Qing
;
Long, Yong
;
Hackett, Perry B.
;
Cui, Zongbin
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2013/01/09
Poly(A) trapping
Sleeping Beauty transposon
Insertional mutagenesis
HeLa cells
Zebrafish embryos
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