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
Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Zhao X et al.
Genetic Testing and Molecular Biomarkers, 2022
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
[Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree].
Yang F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The genetics of retinopathy of prematurity: a model for neovascular retinal disease.
Swan R et al.
Ophthalmology. Retina, 2018
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
Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.
Kondo H et al.
Molecular Vision, 2013
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
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
Pelcastre EL et al.
Clinical & Experimental Ophthalmology, 2010
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
Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.
Drenser KA et al.
Ophthalmic Genetics, 2006
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
Allen RC et al.
Eye (london, England), 2006
Molecular analysis of the NDP gene in two families with Norrie disease.
Rivera-Vega MR et al.
Acta Ophthalmologica Scandinavica, 2005
Mutations of the Norrie gene in Korean ROP infants.
Kim JH et al.
Korean Journal of Ophthalmology : Kjo, 2002
De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity.
Talks SJ et al.
Journal of Medical Genetics, 2001
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
Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs.
Haider MZ et al.
Biology of the Neonate, 2000
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
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
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
Meindl A et al.
Human Molecular 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
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