Property Summary

NCBI Gene PubMed Count 71
PubMed Score 218.23
PubTator Score 276.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Gene RIF (39)

PMID Text
27217716 First study to demonstrate the involvement of NDP among patients with Indian familial exudative vitreoretinopathy (FEVR) that further expands its mutation spectrum.
26459204 Genetic evaluation of a case of bilateral leukocoria and asymmetric microphthalmia revealed a previously undescribed mutation in the Norrie disease protein gene.
26158506 These structural, biophysical and cellular data, map Fz4 and putative Lrp5/6 binding sites to distinct patches on Norrin, and reveal a GAG binding site spanning Norrin and Fz4 cysteine-rich domain.
25023092 Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis.
25005225 Norrin may play a role in the regulation of angiogenesis.
24801666 a novel c.277T>C missense mutation causing the substitution of a hydrophobic cysteine to a hydrophilic arginine [p.(Cys93Arg)]in patients with Norrie disease.
24186977 Norrin induces the formation of a ternary complex with Fz4 and Lrp5/6 by binding to their respective extracellular domains
23444378 Multi-functional norrin is a ligand for the LGR4 receptor.
23383108 A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of Norrie disease protein (NDP) in peptide-treated PBMCs
22674248 Report of a missense mutation, p.Arg41Ser, in NDP causing Norrie disease in an Indian family.
22563645 NDP mutations are common cause of Norrie disease but might be rare cause for familial exudative vitreoretinopathy (FEVR) in Chinese.
22183393 Norrin has a neuroprotective role for retinal neurons independent from its role on the growth of retinal capillaries.
21179243 Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T.
21159148 In cases of dysplastic retinas with bilateral multiple unclear pseudotumourous lesions, cytology seems to be a useful tool to differentiate in a very short term patients with Norrie's syndrome from those with retinoblastoma or lymphoma.
20801516 Observational study of genetic testing. (HuGE Navigator)
20491809 A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with Norrie disease
20427659 Norrin has pronounced neuroprotective properties on retinal neurons. The effects of Norrin involve activation of Wnt/beta-catenin signaling and subsequent induction of neurotrophic growth factors in Muller cells.
20340138 Studies report 21 novel variants for FZD4, LRP5, and NDP.
20227630 family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe Norrie disese phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar
20053900 Norrin is a potent factor that induces angiogenesis in microvascular and endothelial cells following oxygen-induced retinal vessel loss.
19373682 We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders.
18387409 correlation of ophthalmic examination with carrier status for asymptomatic females from a family known to harbor a severe ND gene mutation (C95F)
17955262 Norrin mutants demonstrated variable effects on signal transduction, and no apparent correlation with clinical phenotypes was observed.
17334993 A novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E in Norrie disease with neurological disorder and infantile spasms.
17325173 These observations indicate that mutations of the NDP gene can cause ND(Norrie disease) and 6% of FEVR(familial exudative vitreoretinopathy) cases in the Japanese population.
17296899 Patients exhibiting severe retinal dysgenesis should be suspected of carrying a mutation that disrupts the cysteine-knot motif in the NDP gene.
17158104 Norrin binds to the Frizzled4 cysteine-rich domain (CRD) and does not detectably bind to 14 other mammalian Frizzled and secreted Frizzled-related protein CRDs.
17050281 We found genetic testing of NDP to be helpful in confirming the diagnosis of X-linked FEVR (familial exudative vitreoretinopathy) in male patients, especially when limited family history was available.
16714476 We discuss Wnts and a novel Frizzled ligand, Norrin, in physiological and pathological angiogenesis.
16052165 Observational study of genotype prevalence. (HuGE Navigator)
16052165 NDP polymorphisms may play a role in the pathogenesis of retinopathy of prematurity, but do not appear to be a major causative factor.
15799735 Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status.
15609522 DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure.
12546446 No Norrie Disease (ND) gene mutations were detected.
12145535 Observational study of gene-disease association. (HuGE Navigator)
12145535 Data show a strong association between the AA genotype of the C597A Norrie disease gene polymorphism and progression of retinopathy of prematurity.
11748312 de novo mutations in the 5' regulatory region in retinopathy of prematurity
11322656 Observational study of gene-disease association. (HuGE Navigator)
11285060 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCS      1 - 70
QASRSEPLVSFSTVLKQPFRSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS            71 - 133
//

Text Mined References (82)

PMID Year Title
27217716 2016 Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR.
26459204 2015 Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.
26158506 2015 Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.
25023092 2014 Familial cases of Norrie disease detected by copy number analysis.
25005225 2014 A novel signaling pathway regulates colon cancer angiogenesis through Norrin.
24801666 2014 A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
24186977 2013 Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex.
23444378 2013 Multi-functional norrin is a ligand for the LGR4 receptor.
22674248 2012 Norrie disease: first mutation report and prenatal diagnosis in an Indian family.
22563645 2012 Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.
22183393 2012 The different functions of Norrin.
21736877 2012 Focus on molecules: Norrin.
21179243 2010 A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.
21159148 2012 Report on Norrie's cytology.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20491809 2010 Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
20427659 2010 Norrin mediates neuroprotective effects on retinal ganglion cells via activation of the Wnt/beta-catenin signaling pathway and the induction of neuroprotective growth factors in Muller cells.
20340138 2010 Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
20227630 2010 Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.
20053900 2010 Norrin promotes vascular regrowth after oxygen-induced retinal vessel loss and suppresses retinopathy in mice.
19837033 2009 TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.
19373682 2009 A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy.
18387409 2008 Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17955262 2008 Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
17334993 2007 A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
17325173 2007 Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.
17296899 2007 Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
17158104 2007 Mutational analysis of Norrin-Frizzled4 recognition.
17128466 2006 Gene symbol: NDP. Disease: Norrie disease.
17050281 2006 Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.
16970763 Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.
16714476 2006 Wnt/Frizzled signaling in the vasculature: new angiogenic factors in sight.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16163268 2005 Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
16052165 2005 Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.
15799735 2005 Molecular analysis of the NDP gene in two families with Norrie disease.
15776010 2006 Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
15772651 2005 The DNA sequence of the human X chromosome.
15609522 A novel missense Norrie disease mutation associated with a severe ocular phenotype.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15035989 2004 Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14635119 2003 NDP gene mutations in 14 French families with Norrie disease.
12546446 2002 Mutations of the Norrie gene in Korean ROP infants.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12145535 A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.
11337749 2001 Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.
11322656 2001 Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.
11285060 2001 Retinopathy of prematurity: mutations in the Norrie disease gene and the risk of progression to advanced stages.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10544980 Norrie disease and exudative vitreoretinopathy in families with affected female carriers.
10484772 1999 Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
10452356 1999 Localization of the Norrie disease gene mRNA by in situ hybridization.
9407136 1997 Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.
9382152 1997 Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
9143918 1997 Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
9143917 1997 Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
8990009 1997 Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
8946107 1996 X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein.
8807344 1996 Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
8741107 1996 Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.
8589700 1995 A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.
8298646 1993 Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure.
8281159 1993 Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.
8268931 1993 Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
8252044 1993 A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
8240113 1993 Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant.
8069314 1994 A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
7993212 1994 Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
7835440 1994 The molecular biology of Norrie's disease.
7795608 1995 Missense mutations in the NDP gene in patients with a less severe course of Norrie disease.
7662640 1995 Mutations in the Norrie disease gene: a new mutation in a Japanese family.
7627181 1995 Mutations in the Norrie disease gene.
7558002 1995 Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.
1307245 1992 Mutations in the candidate gene for Norrie disease.
1303264 1992 Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
1303256 1992 Isolation of a candidate gene for Norrie disease by positional cloning.
1303236 1992 Isolation and characterization of a candidate gene for Norrie disease.
1303235 1992 Isolation of a candidate gene for Norrie disease by positional cloning.