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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 (zeige FZD4 Proteine) and TSPAN12 (zeige TSPAN12 Proteine) led to the identification of six major coding region variants in 36 ROP (zeige STXBP1 Proteine) probands.
c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of Norrie disease.
Probands with LRP5 (zeige LRP5 Proteine) or NDP mutations were mainly categorized into group III and IV, TSPAN12 (zeige TSPAN12 Proteine) 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 (zeige LRP5 Proteine) 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 (zeige FZD4 Proteine) (2/31, 6.5%), TSPAN12 (zeige TSPAN12 Proteine) (1/31, 3.2%), and KIF11 (zeige KIF11 Proteine) (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.
xNorrin promotes dorsal and anterior neural formation by acting on two major signaling pathways, Wnt (zeige WNT2 Proteine) and TGF-beta (zeige TGFB1 Proteine), in opposite ways and is essential for early neuroectoderm specification.
results provide functional and biochemical dissection of Fzd4 (zeige FZD4 Proteine) in Norrin signaling.
The endogenously expressed Lgr4 (zeige LGR4 Proteine) may act as an antagonist molecule that helps to fine-tune the R-spondin/norrin-mediated Lgr4 (zeige LGR4 Proteine)-Wnt (zeige WNT2 Proteine) signaling during gonadal development.
Multi-functional norrin is a ligand for the LGR4 (zeige LGR4 Proteine) 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 (zeige WNT2 Proteine)/beta-catenin (zeige CTNNB1 Proteine) and EDN2 (zeige EDN2 Proteine) signaling and involves neurotrophic activities of BDNF (zeige BDNF Proteine).
The data reveal both cell-autonomous and cell-nonautonomous effects, and they imply a central role for Norrin/Fz4 (zeige FZD4 Proteine) 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.
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