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
Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.
Zhu X et al.
Genetic Testing and Molecular Biomarkers, 2020
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.
Iarossi G et al.
Journal of Ophthalmology, 2017
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
The molecular basis of human retinal and vitreoretinal diseases.
Berger W et al.
Progress in Retinal and Eye Research, 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
Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy.
Nallathambi J et al.
Molecular Vision, 2006
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
Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.
Zaremba J et al.
Ophthalmic Genetics, 1998
Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
Walker JL et al.
Human Mutation, 1997
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry BS et al.
Human Mutation, 1997
Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Mintz-Hittner HA et al.
Ophthalmology, 1996
X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
Johnson K et al.
Clinical Genetics, 1996
Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
Kellner U et al.
Ophthalmic Genetics, 1996
Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp).
Battinelli EM et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 1996
An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.
Berger W et al.
Human Molecular Genetics, 1996
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Meindl A et al.
Human Molecular Genetics, 1995
Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families.
Isashiki Y et al.
Human Genetics, 1995
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
Fuentes JJ et al.
Human Molecular Genetics, 1993