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c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of Norrie disease.
Probands with LRP5 (Montrer LRP5 Anticorps) or NDP mutations were mainly categorized into group III and IV, TSPAN12 (Montrer TSPAN12 Anticorps) mutations were mainly observed in probands with group IV and V FEVR.
The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with familial exudative vitreoretinopathy in the studied family
Among the detected mutations, LRP5 (Montrer LRP5 Anticorps) 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 (Montrer FZD4 Anticorps) (2/31, 6.5%), TSPAN12 (Montrer TSPAN12 Anticorps) (1/31, 3.2%), and KIF11 (Montrer KIF11 Anticorps) (1/31, 3.2%). All the novel changes were predicted to be pathogenic by a series of bioinformatics analyses.
we reported a novel missense NDP mutation of a familial case of Norrie Disease in a Chinese family.
hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu) was identified in two brothers with isolated bilateral microphthalmia and sclerocornea.
First study to demonstrate the involvement of NDP among patients with Indian familial exudative vitreoretinopathy (FEVR) that further expands its mutation spectrum.
These structural, biophysical and cellular data, map Fz4 (Montrer FZD4 Anticorps) and putative Lrp5 (Montrer LRP5 Anticorps)/6 binding sites to distinct patches on Norrin, and reveal a GAG binding site spanning Norrin and Fz4 (Montrer FZD4 Anticorps) cysteine-rich domain.
Genetic evaluation of a case of bilateral leukocoria and asymmetric microphthalmia revealed a previously undescribed mutation in the Norrie disease protein gene.
Norrin may play a role in the regulation of angiogenesis.
xNorrin promotes dorsal and anterior neural formation by acting on two major signaling pathways, Wnt (Montrer WNT2 Anticorps) and TGF-beta (Montrer TGFB1 Anticorps), in opposite ways and is essential for early neuroectoderm specification.
The endogenously expressed Lgr4 (Montrer LGR4 Anticorps) may act as an antagonist molecule that helps to fine-tune the R-spondin/norrin-mediated Lgr4 (Montrer LGR4 Anticorps)-Wnt (Montrer WNT2 Anticorps) signaling during gonadal development.
Multi-functional norrin is a ligand for the LGR4 (Montrer LGR4 Anticorps) receptor.
In this study we demonstrate, for the first time, that Norrin protein is expressed along the retinal blood vessels.
Taken together, we have uncovered a cell autonomous function for Ndp in retinal progenitor proliferation that is independent of its function in the retinal vasculature, which could explain the neural defects associated with Norrie disease
We conclude that constitutive overexpression of Norrin protects photoreceptors from light damage, an effect that is mediated by Wnt (Montrer WNT2 Anticorps)/beta-catenin (Montrer CTNNB1 Anticorps) and EDN2 (Montrer EDN2 Anticorps) signaling and involves neurotrophic activities of BDNF (Montrer BDNF Anticorps).
The data reveal both cell-autonomous and cell-nonautonomous effects, and they imply a central role for Norrin/Fz4 (Montrer FZD4 Anticorps) signaling in central nervous system vascular development and in the maintenance of the blood brain barrier/blood retina barrier state.
Results suggest that the delayed outgrowth of the SRVP and decreased angiogenic sprouting in Norrin knockout (Ndp(y/-)) mice are direct effects of the reduced proliferation of endothelial cells from the superficial retinal vascular plexus (SRVP).
Norrin has a neuroprotective role for retinal neurons independent from its role on the growth of retinal capillaries.
These observations suggest the possibility that Norrin may have developmental and/or homeostatic functions beyond the retina and cochlea.
Norrin has pronounced neuroprotective properties on retinal neurons. The effects of Norrin involve activation of Wnt (Montrer WNT2 Anticorps)/beta-catenin (Montrer CTNNB1 Anticorps) signaling and subsequent induction of neurotrophic growth factors in Muller cells.
This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy.
X-linked exudative vitreoretinopathy 2 protein
, norrie disease protein
, Norrie disease protein
, norrie disease protein homolog
, Norrie disease homolog