Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.
about
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationarrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.Dendrobium nobile Lindley and its bibenzyl component moscatilin are able to protect retinal cells from ischemia/hypoxia by dowregulating placental growth factor and upregulating Norrie disease protein.
P2860
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Haploinsufficiency of RCBTB1 i ...... l exudative vitreoretinopathy.
@en
type
label
Haploinsufficiency of RCBTB1 i ...... l exudative vitreoretinopathy.
@en
prefLabel
Haploinsufficiency of RCBTB1 i ...... l exudative vitreoretinopathy.
@en
P2093
P2860
P356
P1476
Haploinsufficiency of RCBTB1 i ...... l exudative vitreoretinopathy.
@en
P2093
Chi-Tang Wang
Hsiao-Ming Chao
Jeng-Hung Wu
Jorn-Hon Liu
Kuo-Chang Chu
Ming-Yi Chung
Shih-Jen Chen
Tze-Tze Liu
Yu-Chieh Ko
Yu-Chien Chung
P2860
P304
P356
10.1093/HMG/DDW041
P577
2016-02-11T00:00:00Z