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科研机构
清华大学 [11]
复旦大学上海医学院 [6]
四川大学 [5]
中国医学科学院 北京... [5]
山东大学 [4]
武汉大学 [3]
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期刊论文 [40]
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Identification of rare variants in cardiac sodium channel beta 4-subunit gene SCN4B associated with ventricular tachycardia
期刊论文
MOLECULAR GENETICS AND GENOMICS, 2019, 卷号: 294, 期号: 4
作者:
Yang, Qin
;
Xiong, Hongbo
;
Xu, Chengqi
;
Huang, Yuan
;
Tu, Xin
收藏
  |  
浏览/下载:39/0
  |  
提交时间:2019/12/05
Single nucleotide polymorphism (SNP)
Ventricular tachycardia (VT)
Cardiac sodium channel beta 4 subunit (SCN4B, Na-v beta 4)
SCN5A/Na(v)1.5
Genetics
A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State
期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:
Yang, Cheng
;
Song, Yuan
;
Chen, Zhaowei
;
Yuan, Xiaohan
;
Chen, Xinhua
收藏
  |  
浏览/下载:26/0
  |  
提交时间:2019/12/05
human genetics
collagen type IV
Alport syndrome
COL4A4
genomic variant
hereditary nephropathy
High expression of FAM13A was associated with increasing the liver cirrhosis risk.
期刊论文
Molecular genetics & genomic medicine, 2019, 页码: e543
作者:
Zhang Yingai
;
Wang Shunlan
;
Wang Chan
;
Xiao Jingchuan
;
Zhang Shufang
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/12/13
FAM13A
SNP
genetics
polymorphism
immunohistochemistry
liver
cirrhosis
Evolutionarily significant A-to-I RNA editing events originated through G-to-A mutations in primates
期刊论文
2019, 卷号: 20, 期号: 1, 页码: 24
作者:
An, Ni A.
;
Ding, Wanqiu
;
Yang, Xin-Zhuang
;
Peng, Jiguang
;
He, Bin Z.
收藏
  |  
浏览/下载:23/0
  |  
提交时间:2020/01/03
RNA editing
Origination
Primate evolution
G-to-A mutation
Population genetics
LPA kringle IV type 2 is associated with type 2 diabetes in a Chinese population with very high cardiovascular risk
期刊论文
JOURNAL OF LIPID RESEARCH, 2018, 卷号: 59, 期号: 5
作者:
Mu-Han-Ha-Li, Di-Li-Da-Er
;
Zhai, Tian-Yu
;
Ling, Yan
;
Gao, Xin
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/05
lipids
lipoproteins
glucose
gene expression
polymorphisms
genetics
Mendelian randomization
lipoprotein (a)
Resequencing Epithelial Sodium Channel Genes Identifies Rare Variants Associated With Blood Pressure Salt-Sensitivity: The GenSalt Study
期刊论文
2018, 卷号: 31, 期号: 2, 页码: 205-211
作者:
Gu, Xiaoying
;
Gu, Dongfeng
;
He, Jiang
;
Rao, Dabeeru C.
;
Hixson, James E.
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2020/01/03
blood pressure
capillary-based sequencing
dietary sodium
epithelial 1 alpha subunit (SCNN1A)
genetics
hypertension
mean arterial pressure
rare variants
salt sensitivity
single nucleotide polymorphism
sodium channel epithelial 1 beta subunit (SCNN1B)
sodium channel epithelial 1 gamma subunit (SCNN1G)
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity
期刊论文
GENETICS IN MEDICINE, 2017, 卷号: 19, 期号: 8
作者:
Chen, Xue
;
Sheng, Xunlun
;
Zhuang, Wenjuan
;
Sun, Xiantao
;
Liu, Guohua
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/05
GUCA1A
maculopathy
medical genetics
ophthalmology
pathogenic mechanism
SCN5A Genetic Polymorphisms Associated With Increased Defibrillator Shocks in Brugada Syndrome
期刊论文
JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2017, 卷号: 6, 期号: 6
作者:
Makarawate, Pattarapong
;
Chaosuwannakit, Narumol
;
Vannaprasaht, Suda
;
Sahasthas, Dujdao
;
Koo, Seok Hwee
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/05
appropriate implantable cardioverter defibrillator shock therapy
Brugada syndrome
genetics
implantable cardioverter defibrillator
SCN5A R1193Q
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity
期刊论文
GENETICS IN MEDICINE, 2017, 卷号: 19, 期号: 8, 页码: 945-954
作者:
Chen, Xue
;
Sheng, Xunlun
;
Zhuang, Wenjuan
;
Sun, Xiantao
;
Liu, Guohua
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2019/12/12
GUCA1A
maculopathy
medical genetics
ophthalmology
pathogenic
mechanism
Associations of Variants in the CACNA1A and CACNA1C Genes With Longitudinal Blood Pressure Changes and Hypertension Incidence: The GenSalt Study
期刊论文
2016, 卷号: 29, 期号: 11, 页码: 1301-1306
作者:
Hu, Zunsong
;
Liu, Fangchao
;
Li, Mengting
;
He, Jiang
;
Huang, Jianfeng
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/04
blood pressure
CACNA1A
CACNA1C
genetics
hypertension
longitudinal changes
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