Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway
Mutations in NDP and FZD4 have been closely related to a series of retinal diseases including familial exudative vitreoretinopathy (FEVR). Our study was designed to identify novel NDP and FZD4 mutations by whole exome sequencing (WES) in a cohort of patients with a definitive diagnosis of FEVR and e...
Main Authors: | Shuai Han, Junhui Sun, Liwei Yang, Ming Qi |
---|---|
Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2020-01-01
|
Series: | BioMed Research International |
Online Access: | http://dx.doi.org/10.1155/2020/7681926 |
Similar Items
-
Functional characterisation of FEVR-related LGR4 missense mutations : implications in Norrin-β-Catenin signalling pathway and angiogenesis
by: Sanjurjo Soriano, Carla
Published: (2017) -
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy
by: Tian Tian, et al.
Published: (2019-02-01) -
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums
by: Hongtao Xiao, et al.
Published: (2019-01-01) -
FZD4 Marks Lateral Plate Mesoderm and Signals with NORRIN to Increase Cardiomyocyte Induction from Pluripotent Stem Cell-Derived Cardiac Progenitors
by: Charles Yoon, et al.
Published: (2018-01-01) -
Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage
by: Barbara M. Braunger, et al.
Published: (2013-02-01)