Human Norrin(NDP) ELISA kit

Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.

1. NDP is a potent trigger of FZD4 ubiquitination and induces internalization of the NDP receptor complex into the endo-lysosomal compartment. of ubiquitinated cargo transport through the multivesicular body (MVB) pathway using a dominant negative ESCRT (endosomal sorting complexes required for transport) component VPS4 EQ strongly impairs NDP/FZD4 signalling in vitro. PMID: 28675177
2. A novel mutation was found in the NDP gene in the affected males of the family. As the mutation was absent in the normal male members of the family, it should be the genetic cause of the disease. PMID: 28922694
3. The genetic analysis of the NDP gene enabled to identify the novel frameshift mutation c.222_c223insCG in p1 leading to the premature stop codon and production of aberrant norrin protein. In P2, clinical presentation included high myopia with astigmatism, unilateral fibrous bands and retinal detachment. Genetic testing revealed known point mutation c.362G>A leading to amino-acid alteration and improper protein. Conclus PMID: 30088388
4. The patient with whole NDP gene deletion did not exhibit any apparent extraocular defects (like mental retardation or sensorineural hearing loss) during his first decade of life, and this is considered to be a notable finding. Our study also provides evidence emphasizing the need for genetic testing which could eliminate ambiguities in clinical diagnosis and detect carrier status, thereby aiding the patient and family mem PMID: 28602015
5. The screening of candidate genes namely NDP, FZD4 and TSPAN12 led to the identification of six major coding region variants in 36 ROP probands. PMID: 28982955
6. c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of Norrie disease. PMID: 29133643
7. Probands with LRP5 or NDP mutations were mainly categorized into group III and IV, TSPAN12 mutations were mainly observed in probands with group IV and V FEVR. PMID: 29181528
8. The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with familial exudative vitreoretinopathy in the studied family PMID: 27720678
9. Among the detected mutations, LRP5 accounted for the largest proportion with a mean mutation rate of 16.1% (5/31, 16.1%), followed by NDP (3/31, 9.7%), FZD4 (2/31, 6.5%), TSPAN12 (1/31, 3.2%), and KIF11 (1/31, 3.2%). All the novel changes were predicted to be pathogenic by a series of bioinformatics analyses. PMID: 28494495
10. we reported a novel missense NDP mutation of a familial case of Norrie Disease in a Chinese family. PMID: 26547627
11. hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu) was identified in two brothers with isolated bilateral microphthalmia and sclerocornea. PMID: 26130484
12. First study to demonstrate the involvement of NDP among patients with Indian familial exudative vitreoretinopathy (FEVR) that further expands its mutation spectrum. PMID: 27217716
13. 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. PMID: 26158506
14. Genetic evaluation of a case of bilateral leukocoria and asymmetric microphthalmia revealed a previously undescribed mutation in the Norrie disease protein gene. PMID: 26459204
15. Norrin may play a role in the regulation of angiogenesis. PMID: 25005225
16. 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. PMID: 24801666
17. Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis. PMID: 25023092
18. Norrin induces the formation of a ternary complex with Fz4 and Lrp5/6 by binding to their respective extracellular domains PMID: 24186977
19. Report of a missense mutation, p.Arg41Ser, in NDP causing Norrie disease in an Indian family. PMID: 22674248
20. Multi-functional norrin is a ligand for the LGR4 receptor. PMID: 23444378
21. NDP mutations are common cause of Norrie disease but might be rare cause for familial exudative vitreoretinopathy (FEVR) in Chinese. PMID: 22563645
22. 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. PMID: 21159148
23. Norrin has a neuroprotective role for retinal neurons independent from its role on the growth of retinal capillaries. PMID: 22183393
24. Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T. PMID: 21179243
25. A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with Norrie disease PMID: 20491809
26. Studies report 21 novel variants for FZD4, LRP5, and NDP. PMID: 20340138
27. 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 PMID: 20227630
28. 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. PMID: 20427659
29. Norrin is a potent factor that induces angiogenesis in microvascular and endothelial cells following oxygen-induced retinal vessel loss. PMID: 20053900
30. de novo mutations in the 5' regulatory region in retinopathy of prematurity PMID: 11748312
31. Data show a strong association between the AA genotype of the C597A Norrie disease gene polymorphism and progression of retinopathy of prematurity. PMID: 12145535
32. No Norrie Disease (ND) gene mutations were detected. PMID: 12546446
33. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. PMID: 15609522
34. 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. PMID: 15799735
35. NDP polymorphisms may play a role in the pathogenesis of retinopathy of prematurity, but do not appear to be a major causative factor. PMID: 16052165
36. We discuss Wnts and a novel Frizzled ligand, Norrin, in physiological and pathological angiogenesis. PMID: 16714476
37. 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. PMID: 17050281
38. 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. PMID: 17158104
39. Patients exhibiting severe retinal dysgenesis should be suspected of carrying a mutation that disrupts the cysteine-knot motif in the NDP gene. PMID: 17296899
40. 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. PMID: 17325173
41. 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. PMID: 17334993
42. Norrin mutants demonstrated variable effects on signal transduction, and no apparent correlation with clinical phenotypes was observed. PMID: 17955262
43. correlation of ophthalmic examination with carrier status for asymptomatic females from a family known to harbor a severe ND gene mutation (C95F) PMID: 18387409
44. We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders. PMID: 19373682

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Norrie disease (ND); Vitreoretinopathy, exudative 2 (EVR2)

Secreted.

Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.

HGNC: 7678

OMIM: 300658

KEGG: hsa:4693

STRING: 9606.ENSP00000367301

UniGene: Hs.522615