Associated Papers
Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Dai E et al.
Investigative Ophthalmology & Visual Science, 2024
Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.
Seemab S et al.
Bmc Evolutionary Biology, 2019
30849938 (PubMed )
Supplement: 12862_2019_1400_MOESM2_ESM.pdf
Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.
Xiao H et al.
Journal of Ophthalmology, 2019
Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function.
Zhang C et al.
Nature Communications, 2017
Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy.
Seo SH et al.
Investigative Ophthalmology & Visual Science, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients.
Salvo J et al.
Investigative Ophthalmology & Visual Science, 2015
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
Robitaille JM et al.
The British Journal of Ophthalmology, 2011
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K et al.
Human Mutation, 2010
TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
Junge HJ et al.
Cell, 2009
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
Qin M et al.
Human Mutation, 2005
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.
Toomes C et al.
Investigative Ophthalmology & Visual Science, 2004
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
Xu Q et al.
Cell, 2004
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