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Human Polyclonal NDP Primary Antibody für IHC, IHC (p) - ABIN4892212
Halfter, Moes, Asgeirsson, Halfter, Oertle, Melo Herraiz, Plodinec, Jenoe, Henrich: Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes. in PLoS ONE 2018
The screening of candidate genes namely NDP, FZD4 (zeige FZD4 Antikörper) and TSPAN12 (zeige TSPAN12 Antikörper) led to the identification of six major coding region variants in 36 ROP (zeige STXBP1 Antikörper) 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 Antikörper) or NDP mutations were mainly categorized into group III and IV, TSPAN12 (zeige TSPAN12 Antikörper) 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 Antikörper) 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 Antikörper) (2/31, 6.5%), TSPAN12 (zeige TSPAN12 Antikörper) (1/31, 3.2%), and KIF11 (zeige KIF11 Antikörper) (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 (zeige FZD4 Antikörper) and putative Lrp5 (zeige LRP5 Antikörper)/6 binding sites to distinct patches on Norrin, and reveal a GAG binding site spanning Norrin and Fz4 (zeige FZD4 Antikörper) 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.
xNorrin promotes dorsal and anterior neural formation by acting on two major signaling pathways, Wnt (zeige WNT2 Antikörper) and TGF-beta (zeige TGFB1 Antikörper), in opposite ways and is essential for early neuroectoderm specification.
The endogenously expressed Lgr4 (zeige LGR4 Antikörper) may act as an antagonist molecule that helps to fine-tune the R-spondin/norrin-mediated Lgr4 (zeige LGR4 Antikörper)-Wnt (zeige WNT2 Antikörper) signaling during gonadal development.
Multi-functional norrin is a ligand for the LGR4 (zeige LGR4 Antikörper) 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 Antikörper)/beta-catenin (zeige CTNNB1 Antikörper) and EDN2 (zeige EDN2 Antikörper) signaling and involves neurotrophic activities of BDNF (zeige BDNF Antikörper).
The data reveal both cell-autonomous and cell-nonautonomous effects, and they imply a central role for Norrin/Fz4 (zeige FZD4 Antikörper) 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 (zeige WNT2 Antikörper)/beta-catenin (zeige CTNNB1 Antikörper) 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