Associated Papers
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
Ju Y et al.
Human Genomics, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy.
Elhusseiny AM et al.
European Journal of Ophthalmology, 2022
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Qu N et al.
Molecular Genetics & Genomic Medicine, 2022
Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.
Sun W et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2021
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
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy.
Tang M et al.
Investigative Ophthalmology & Visual Science, 2017
TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling.
Lai MB et al.
Cell Reports, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter JA et al.
Investigative Ophthalmology & Visual Science, 2012
Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.
Yang H et al.
Molecular Vision, 2011
The Presence of Wnt Signaling Mutations in Patients With Diabetic Retinopathy.
Moinuddin O et al.
Journal of Vitreoretinal Diseases, 0
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