Associated Papers
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
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
Lev D et al.
American Journal of Medical Genetics. Part A, 2007
Molecular analysis of the NDP gene in two families with Norrie disease.
Rivera-Vega MR et al.
Acta Ophthalmologica Scandinavica, 2005
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
Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages.
Haider MZ et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2001
Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.
Perez-Vilar J et al.
The Journal of Biological Chemistry, 1997
A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.
Haider MZ et al.
Journal of Biomedical Science, 0
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.
Dickinson JL et al.
Clinical & Experimental Ophthalmology, 0
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