Selective activation of the Wnt-signaling pathway as a novel therapy for the treatment of diabetic retinopathy and other retinal vascular diseases
Retinal ischemia, often associated with various disorders such as diabetic retinopathy (DR),
retinal vein occlusion, glaucoma, optic neuropathies, stroke, and other retinopathies, is a …
retinal vein occlusion, glaucoma, optic neuropathies, stroke, and other retinopathies, is a …
[HTML][HTML] Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
S Kayumi, LA Pérez-Jurado, M Palomares, S Rangu… - Genetics in …, 2022 - Elsevier
Purpose Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder
with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most …
with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most …
[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 …
Vitreoretinopathy in asymptomatic children with CTNNB1 syndrome
EC Bedoukian, G Forbes, D Scoles - JAMA ophthalmology, 2024 - jamanetwork.com
Importance Previous studies have identified familial exudative vitreoretinonpathy (FEVR) in
patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However …
patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However …
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 …
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 …
blindness. It has been established that Norrin forms dimers to activate β‐catenin signaling …
Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients
Familial exudative vitreoretinopathy (FEVR) is a severe inherited disease characterized by
defective retinal vascular development. With genetic and clinical heterogeneity, FEVR can …
defective retinal vascular development. With genetic and clinical heterogeneity, FEVR can …
Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity
M Liu, J Luo, H Feng, J Li, X Zhang, P Zhao… - Frontiers in …, 2022 - frontiersin.org
Familial exudative vitreoretinopathy (FEVR) is an important cause of childhood blindness
and is clinically characterized by phenotypic heterogeneity. FEVR patients harboring the …
and is clinically characterized by phenotypic heterogeneity. FEVR patients harboring the …