Assessment of Inner Blood–Retinal Barrier: Animal Models and Methods

K Bora, N Kushwah, M Maurya, MC Pavlovich, Z Wang… - Cells, 2023 - mdpi.com
Proper functioning of the neural retina relies on the unique retinal environment regulated by
the blood–retinal barrier (BRB), which restricts the passage of solutes, fluids, and toxic …

Selective activation of the Wnt-signaling pathway as a novel therapy for the treatment of diabetic retinopathy and other retinal vascular diseases

H Nguyen, SJ Lee, Y Li - Pharmaceutics, 2022 - mdpi.com
Retinal ischemia, often associated with various disorders such as diabetic retinopathy (DR),
retinal vein occlusion, glaucoma, optic neuropathies, stroke, and other retinopathies, is a …

[HTML][HTML] Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative …

S Li, M Yang, R Zhao, L Peng, W Liu, X Jiang, Y He… - Genes & …, 2023 - Elsevier
Endoplasmic reticulum (ER) membrane protein complex (EMC) is required for the co-
translational insertion of newly synthesized multi-transmembrane proteins. Compromised …

Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation

Y Liu, M Yang, L Fan, Y He, E Dai, M Liu, L Jiang… - International Journal of …, 2024 - Elsevier
The β-catenin has two intrinsically disordered regions in both C-and N-terminal domains that
trigger the formation of phase-separated condensates. Variants in its C-terminus are …

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy

J Mao, Y Chen, Y Fang, Y Shao, Z Xiang, H Li… - Annals of …, 2022 - Taylor & Francis
Objective To explore the clinical manifestations and search for the variants of six related
genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial …

A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy

R Zhao, E Dai, S Wang, X Zhang, Y He… - Clinical …, 2023 - Wiley Online Library
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder; however, the
known FEVR‐associated variants account for approximately only 50% cases. Currently, the …

Dysfunction of Calcyphosine-Like gene impairs retinal angiogenesis through the MYC axis and is associated with familial exudative vitreoretinopathy

W Liu, S Li, M Yang, J Ma, L Liu, P Fei, Q Xiang… - Elife, 2024 - elifesciences.org
Familial exudative vitreoretinopathy (FEVR) is a severe genetic disorder characterized by
incomplete vascularization of the peripheral retina and associated symptoms that can lead …

[HTML][HTML] Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes

H Kondo, T Tsukahara-Kawamura, I Matsushita… - Ophthalmology …, 2024 - Elsevier
Purpose To determine the clinical characteristics of familial exudative vitreoretinopathy
(FEVR) associated with or without pathogenic variants of the Norrin/β-catenin genes. Design …

[HTML][HTML] Progress in the development of Modulators targeting Frizzleds

J Chuan, W Li, S Pan, Z Jiang, J Shi, Z Yang - Pharmacological Research, 2024 - Elsevier
Abstract The Frizzleds (FZDs) receptors on the cell surface belong to the class F of G protein-
coupled receptors (GPCRs) which are the major receptors of WNT protein that mediates the …

Deciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy

R Zhao, M Liu, E Dai, C Chen, L Lv, L Peng… - The FASEB …, 2024 - Wiley Online Library
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease that could cause
blindness. It has been established that Norrin forms dimers to activate β‐catenin signaling …