Property Summary

NCBI Gene PubMed Count 71
Grant Count 45
R01 Count 37
Funding $5,034,934.31
PubMed Score 218.23
PubTator Score 276.18

Knowledge Summary

Patent

No data available

Expression

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.
More...

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.
More...