Wnt/frizzled signaling in endothelium: A major player in blood-retinal-and blood-brain-barrier integrity
ML Bats, C Peghaire, V Delobel… - Cold Spring …, 2022 - perspectivesinmedicine.cshlp.org
The Wnt/frizzled signaling pathway is one of the major regulators of endothelial biology,
controlling key cellular activities. Many secreted Wnt ligands have been identified and can …
controlling key cellular activities. Many secreted Wnt ligands have been identified and can …
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] 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 …
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 …
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 …
incomplete vascularization of the peripheral retina and associated symptoms that can lead …
Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy
J Li, C Wang, S Zhang, B Cai, B Pan, C Sun, X Qi… - BMC …, 2023 - Springer
Background Familial exudative vitreoretinopathy (FEVR) is a genetic eye disorder that leads
to abnormal development of retinal blood vessels, resulting in vision impairment. This study …
to abnormal development of retinal blood vessels, resulting in vision impairment. This study …
[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 …
(FEVR) associated with or without pathogenic variants of the Norrin/β-catenin genes. Design …