Associated Papers
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.
Hoem G et al.
Clinical Genetics, 2024
FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
Lu J et al.
Investigative Ophthalmology & Visual Science, 2022
A novel stop codon mutation of TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
Zou G et al.
Ophthalmic Genetics, 2022
Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.
Dan H et al.
Bmc Medical Genomics, 2022
Genomic, transcriptomic, and viral integration profiles associated with recurrent/metastatic progression in high-risk human papillomavirus cervical carcinomas.
Liu JJ et al.
Cancer Medicine, 2020
33017516 (PubMed )
Supplement: CAM4-9-8243-s003.xlsx › WES_filtered_by_FIREVAT
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 gene.
Seemab S et al.
Bmc Evolutionary Biology, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE
Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.
Tian T et al.
Molecular Vision, 2019
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
Spectrum of Variants in 389 Chinese Probands With Familial Exudative Vitreoretinopathy.
Li JK et al.
Investigative Ophthalmology & Visual Science, 2018
Crystal structure of the Frizzled 4 receptor in a ligand-free state.
Yang S et al.
Nature, 2018
The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment.
Pau MS et al.
Journal of Molecular Signaling, 2015
Novel frizzled-4 gene mutations in chinese patients with familial exudative vitreoretinopathy.
Jia LY et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
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