Associated Papers
The co-receptor Tetraspanin12 directly captures Norrin to promote ligand-specific β-catenin signaling.
Bruguera ES et al.
Elife, 2025
The co-receptor Tetraspanin12 directly captures Norrin to promote ligand-specific β-catenin signaling.
Bruguera ES et al.
Biorxiv : the Preprint Server for Biology, 2024
Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Liu M et al.
Investigative Ophthalmology & Visual Science, 2024
38517429 (PubMed )
Supplement: iovs-65-3-31_s001.pdf
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
Jia LY et al.
Bmc Ophthalmology, 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
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
Liu HY et al.
Journal of the Chinese Medical Association : Jcma, 2016
Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.
Chang TH et al.
Elife, 2015
A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.
Liu D et al.
Molecular Vision, 2010
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
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
Qin M et al.
Human Genetics, 2008
Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.
Kondo H et al.
Investigative Ophthalmology & Visual Science, 2007
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