NDP Antibody

1. NDP acts as a potent trigger for FZD4 ubiquitination, leading to internalization of the NDP receptor complex into the endo-lysosomal compartment. Inhibition of ubiquitinated cargo transport through the multivesicular body (MVB) pathway, utilizing a dominant negative ESCRT (endosomal sorting complexes required for transport) component VPS4 EQ, significantly impairs NDP/FZD4 signaling in vitro. PMID: 28675177
2. A novel mutation was identified in the NDP gene within the affected males of a family. As this mutation was absent in normal male family members, it is strongly implicated as the genetic cause of the disease. PMID: 28922694
3. Genetic analysis of the NDP gene revealed a novel frameshift mutation c.222_c223insCG in p1, leading to a premature stop codon and the production of an aberrant norrin protein. In P2, the clinical presentation included high myopia with astigmatism, unilateral fibrous bands, and retinal detachment. Genetic testing revealed a known point mutation c.362G>A, leading to amino acid alteration and improper protein folding. Conclus PMID: 30088388
4. The patient exhibiting a complete NDP gene deletion did not display any noticeable extraocular defects (like mental retardation or sensorineural hearing loss) during the first decade of life, a significant finding. This study emphasizes the importance of genetic testing to eliminate ambiguities in clinical diagnosis, detect carrier status, and support patient and family members. PMID: 28602015
5. Screening of candidate genes, specifically NDP, FZD4, and TSPAN12, led to the identification of six major coding region variants in 36 ROP probands. PMID: 28982955
6. The c.314C>A mutation in the NDP gene represents a novel finding and broadens the genetic spectrum of Norrie disease. PMID: 29133643
7. Probands with LRP5 or NDP mutations were primarily classified into groups III and IV, while TSPAN12 mutations were predominantly observed in probands with groups 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 novel changes were predicted to be pathogenic based on a series of bioinformatics analyses. PMID: 28494495
10. This study reports a novel missense NDP mutation in a familial case of Norrie disease within a Chinese family. PMID: 26547627
11. A hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu), was identified in two brothers presenting with isolated bilateral microphthalmia and sclerocornea. PMID: 26130484
12. This study provides the first evidence demonstrating the involvement of NDP among patients with Indian familial exudative vitreoretinopathy (FEVR), further expanding the known mutation spectrum. PMID: 27217716
13. Structural, biophysical, and cellular data map Fz4 and putative Lrp5/6 binding sites to distinct patches on Norrin, revealing a GAG binding site spanning Norrin and the 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. This study identified 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 through clinical examination and 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. This report details a missense mutation, p.Arg41Ser, in NDP causing Norrie disease in an Indian family. PMID: 22674248
20. Norrin is a multifunctional protein that acts as a ligand for the LGR4 receptor. PMID: 23444378
21. NDP mutations are a common cause of Norrie disease but may be a rare cause of familial exudative vitreoretinopathy (FEVR) in the Chinese population. PMID: 22563645
22. In cases of dysplastic retinas with bilateral multiple unclear pseudotumorous lesions, cytology appears to be a valuable tool for rapid differentiation between patients with Norrie's syndrome and those with retinoblastoma or lymphoma. PMID: 21159148
23. Norrin exhibits neuroprotective properties for retinal neurons independent of its role in retinal capillary growth. 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. A single base-pair deletion, c.268delC, was identified in the NDP gene, causing a severe Norrie disease phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in other cases. PMID: 20227630
28. Norrin possesses pronounced neuroprotective properties on retinal neurons. Its effects 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 have been implicated in retinopathy of prematurity. PMID: 11748312
31. Data demonstrate 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 in this study. PMID: 12546446
33. DNA sequencing revealed a novel missense mutation (703G>T), which significantly alters the predicted protein structure. PMID: 15609522
34. This study reports two novel mutations in the NDP gene in Mexican patients and proposes that GeneScan is a viable method for establishing ND carrier status. PMID: 15799735
35. NDP polymorphisms may contribute to the pathogenesis of retinopathy of prematurity but do not appear to be a major causative factor. PMID: 16052165
36. This study discusses Wnt proteins and a novel Frizzled ligand, Norrin, in physiological and pathological angiogenesis. PMID: 16714476
37. Genetic testing of NDP was found to be helpful in confirming the diagnosis of X-linked FEVR (familial exudative vitreoretinopathy) in male patients, particularly 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. Observations indicate that mutations in 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 an amino acid change at codon V45E, was identified in Norrie disease with neurological disorder and infantile spasms. PMID: 17334993
42. Norrin mutants demonstrated variable effects on signal transduction, and no clear correlation with clinical phenotypes was observed. PMID: 17955262
43. This study correlated ophthalmic examination with carrier status for asymptomatic females from a family known to harbor a severe ND gene mutation (C95F). PMID: 18387409
44. This study reports 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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HGNC: 7678

OMIM: 300658

KEGG: hsa:4693

STRING: 9606.ENSP00000367301

UniGene: Hs.522615