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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.
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.
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
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
The screening of candidate genes namely NDP, FZD4 and TSPAN12 led to the identification of six major coding region variants in 36 ROP probands.
c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of Norrie disease.
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.
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 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.
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 and putative Lrp5/6 binding sites to distinct patches on Norrin, and reveal a GAG binding site spanning Norrin and Fz4 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.
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.
Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis.
Norrin induces the formation of a ternary complex with Fz4 and Lrp5/6 by binding to their respective extracellular domains
Report of a missense mutation, p.Arg41Ser, in NDP causing Norrie disease in an Indian family.
Multi-functional norrin is a ligand for the LGR4 receptor.
xNorrin promotes dorsal and anterior neural formation by acting on two major signaling pathways, Wnt and TGF-beta, in opposite ways and is essential for early neuroectoderm specification.
High amounts of TGF-beta in the eye cause a substantial reduction in the activity of Wnt/beta-catenin signaling. This effect is inhibited in the presence of high amounts of Norrin, which further induce the expression of SMAD7 to inhibit TGF-beta signaling.
experiments define the extent of CNS region-specific cooperation for several components of the Norrin and Wnt7a/Wnt7b systems, and they reveal substantial regional heterogeneity in the extent to which partially redundant ligands, receptors, and coactivators maintain the blood-brain barrier and blood-retina barrier
NORRIN presented to FZD4 further increases cardiomyocyte output via proliferation through the canonical WNT pathway.
NDP is a potent trigger of FZD4 ubiquitination and induces internalization of the NDP receptor complex into the endo-lysosomal compartment. Inhibition of ubiquitinated cargo transport strongly impairs NDP/FZD4 signalling in vitro and recapitulates CNS angiogenesis and blood-CNS-barrier defects caused by impaired vascular beta-catenin signalling in mice.
results provide functional and biochemical dissection of Fzd4 in Norrin signaling.
The endogenously expressed Lgr4 may act as an antagonist molecule that helps to fine-tune the R-spondin/norrin-mediated Lgr4-Wnt signaling during gonadal development.
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/beta-catenin and EDN2 signaling and involves neurotrophic activities of BDNF.
The data reveal both cell-autonomous and cell-nonautonomous effects, and they imply a central role for Norrin/Fz4 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/beta-catenin signaling and subsequent induction of neurotrophic growth factors in Muller cells.
a Norrin-Fz4 signaling system plays a central role in vascular development in the eye and ear, and ligands unrelated to Wnts can act through Fz receptors
Transgenic expression of ectopic norrin under control of a lens-specific promoter restores the formation of a normal retinal vascular network in Ndp(y/-) mutant mice.
These data provide strong evidence for Norrin playing an important role in female reproductive tissues.
This provides the first description of a brain phenotype in Ndph knockout mice, which will help to elucidate the role of Norrin in the brain.
These data provide molecular evidence for a role of Norrin in the development of the retinal vasculature.
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