Assessment of Inner Blood–Retinal Barrier: Animal Models and Methods
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 …
the blood–retinal barrier (BRB), which restricts the passage of solutes, fluids, and toxic …
[HTML][HTML] circRNAs as epigenetic regulators of integrity in blood–brain barrier architecture: mechanisms and therapeutic strategies in multiple sclerosis
E D'Aversa, F Salvatori, M Vaccarezza, B Antonica… - Cells, 2024 - mdpi.com
Multiple sclerosis (MS) is a chronic inflammatory neurodegenerative disease leading to
progressive demyelination and neuronal loss, with extensive neurological symptoms. As …
progressive demyelination and neuronal loss, with extensive neurological symptoms. As …
[HTML][HTML] An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis
N Xu, Y Cai, J Li, T Tao, C Liu, Y Shen, X Li, L Zhang… - JCI insight, 2023 - ncbi.nlm.nih.gov
Familial exudative vitreoretinopathy (FEVR) is a complex hereditary eye disorder
characterized by incomplete development of the retinal vasculature, which thereby affects …
characterized by incomplete development of the retinal vasculature, which thereby affects …
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy.
- Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe PMC Menu About …
- Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe PMC Menu About …
Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation
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 …
trigger the formation of phase-separated condensates. Variants in its C-terminus are …
[HTML][HTML] Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative …
Endoplasmic reticulum (ER) membrane protein complex (EMC) is required for the co-
translational insertion of newly synthesized multi-transmembrane proteins. Compromised …
translational insertion of newly synthesized multi-transmembrane proteins. Compromised …
[HTML][HTML] CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis
Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision
loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential …
loss. CTNND1 encodes a cellular adhesion protein p120-catenin (p120), which is essential …
Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
Background Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder
with clinical and genetic heterogeneity. Heterozygous variants in the CTNNB1 gene have …
with clinical and genetic heterogeneity. Heterozygous variants in the CTNNB1 gene have …
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 …
genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial …
The ER membrane protein complex subunit Emc3 controls angiogenesis via the FZD4/WNT signaling axis
The endoplasmic reticulum (ER) membrane protein complex (EMC) regulates the synthesis
and quality control of membrane proteins with multiple transmembrane domains. One of the …
and quality control of membrane proteins with multiple transmembrane domains. One of the …