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CRB2 mutation causes autosomal recessive retinitis pigmentosa
期刊论文
EXPERIMENTAL EYE RESEARCH, 2019, 卷号: 180
作者:
Sun, Ruxu
;
Chen, Xue
;
Jiang, Chao
;
Yang, Daidi
;
Wang, Min
收藏
  |  
浏览/下载:22/0
  |  
提交时间:2019/12/05
CRB2
Retinitis pigmentosa
Medical genetics
Epithelial-mesenchymal transition
Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families
期刊论文
INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2019, 卷号: 12, 期号: 6
作者:
Hu, Yan-Shan
;
Song, Hui
;
Li, Yin
;
Xiao, Zi-Yun
;
Li, Tuo
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/05
retinitis pigmentosa
nonsyndromic
whole-exome sequencing
mutation
novel
A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane
期刊论文
BIOCHEMICAL GENETICS, 2019, 卷号: 57, 期号: 4
作者:
Gao, Qing
;
Liu, Yifan
;
Lei, Xinlan
;
Deng, Qinqin
;
Tong, Yongqing
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2019/12/05
Retinitis pigmentosa
Cyclic nucleotide gated channel alpha 1
Next generation sequencing
Altered intra- and inter-regional functional connectivity of the visual cortex in individuals with peripheral vision loss due to retinitis pigmentosa
期刊论文
VISION RESEARCH, 2019, 卷号: 159
作者:
Dan, Han-Dong
;
Zhou, Fu-Qing
;
Huang, Xin
;
Xing, Yi-Qiao
;
Shen, Yin
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2019/12/05
Retinitis pigmentosa
Regional homogeneity
Functional connectivity
Functional magnetic resonance imaging
Abnormal intrinsic functional network hubs and connectivity following peripheral visual loss because of inherited retinal degeneration
期刊论文
NEUROREPORT, 2019, 卷号: 30, 期号: 4
作者:
Huang, Xin
;
Dan, Han-Dong
;
Zhou, Fu-Qing
;
Deng, Qin-Qin
;
Shen, Yin
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/05
functional connectivity
retinitis pigmentosa
voxel-wise degree centrality
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 3, 页码: 165-169
作者:
Yang, Mu
;
Li, Shujin
;
Liu, Wenjing
;
Yang, Yeming
;
Zhang, Lin
收藏
  |  
浏览/下载:20/0
  |  
提交时间:2020/12/24
MERTK
next-generation sequencing
genetics
autosomal recessive retinitis pigmentosa
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 2, 页码: 109-114
作者:
Li, Shujin
;
Yang, Mu
;
Liu, Wenjing
;
Liu, Yuqing
;
Zhang, Lin
收藏
  |  
浏览/下载:22/0
  |  
提交时间:2020/12/24
targeted NGS
RP1
autosomal recessive retinitis pigmentosa
Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice
期刊论文
EXPERIMENTAL EYE RESEARCH, 2018, 卷号: 166, 期号: 6, 页码: 120-130
作者:
Eblimit, A (Eblimit, Aiden)
;
Agrawal, SA (Agrawal, Smriti Akshay)
;
Thomas, K (Thomas, Kandace)
;
Anastassov, IA (Anastassov, Ivan Assenov)
;
Abulikemu, T (Abulikemu, Tajiguli)
收藏
  |  
浏览/下载:42/0
  |  
提交时间:2018/02/25
Retinitis Pigmentosa
Leber Congenital Amaurosis
Spata7
Photoreceptors
Retinal Degeneration
Conditional Knockout
Rpe
Retinal Function
Intravitreous Delivery of Ab-Crystallin Ameliorates N-Methyl-N-Nitrosourea Induced Photoreceptor Degeneration in Mice: An in vivo and ex vivo Study
期刊论文
CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, 2018, 卷号: 48, 期号: 5
作者:
Tao, Ye
;
Ding, Lei
;
Yao, Anhui
;
Yang, Zhen
;
Yang, Qinghua
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2019/12/05
Retinitis pigmentosa
Photoreceptor
Apoptosis
Crystallin
Muller Cell Regulated Microglial Activation and Migration in Rats With N-Methyl-N-Nitrosourea-lnduced Retinal Degeneration
期刊论文
FRONTIERS IN NEUROSCIENCE, 2018, 卷号: 12
作者:
Zhang, Shuai
;
Zhang, Shanshan
;
Gong, Wenqing
;
Zhu, Guopei
;
Wang, Songtao
收藏
  |  
浏览/下载:14/0
  |  
提交时间:2019/12/05
retinitis pigmentosa
microglia
N-methyl-N-nitrosourea
Muller cells
crosstalk
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