NDP Antibody, HRP conjugated
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中文名稱:NDP兔多克隆抗體, HRP偶聯(lián)
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貨號(hào):CSB-PA015609LB01HU
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規(guī)格:¥880
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其他:
產(chǎn)品詳情
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產(chǎn)品名稱:Rabbit anti-Homo sapiens (Human) NDP Polyclonal antibody
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Uniprot No.:
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基因名:NDP
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別名:EVR2 antibody; Exudative vitreoretinopathy 2 (X linked) antibody; FEVR antibody; ND antibody; NDP antibody; NDP_HUMAN antibody; Norrie disease (pseudoglioma) antibody; Norrie disease protein antibody; Norrin antibody; Norrin precursor antibody; X linked exudative vitreoretinopathy 2 protein antibody; X-linked exudative vitreoretinopathy 2 protein antibody
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宿主:Rabbit
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反應(yīng)種屬:Human
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免疫原:Recombinant Human Norrin protein (25-133AA)
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免疫原種屬:Homo sapiens (Human)
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標(biāo)記方式:HRP
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克隆類型:Polyclonal
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抗體亞型:IgG
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純化方式:>95%, Protein G purified
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濃度:It differs from different batches. Please contact us to confirm it.
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保存緩沖液:Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產(chǎn)品提供形式:Liquid
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應(yīng)用范圍:ELISA
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Protocols:
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儲(chǔ)存條件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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功能:Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.
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基因功能參考文獻(xiàn):
- 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. PMID: 28675177
- 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. PMID: 28922694
- 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 PMID: 30088388
- 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 PMID: 28602015
- The screening of candidate genes namely NDP, FZD4 and TSPAN12 led to the identification of six major coding region variants in 36 ROP probands. PMID: 28982955
- c.314C>A mutation of NDP gene is a novel mutation and broadens the genetic spectrum of Norrie disease. PMID: 29133643
- 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. PMID: 29181528
- The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with familial exudative vitreoretinopathy in the studied family PMID: 27720678
- 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. PMID: 28494495
- we reported a novel missense NDP mutation of a familial case of Norrie Disease in a Chinese family. PMID: 26547627
- hemizygous pathogenic variant in NDP, c.293 C>T, p.(Pro98Leu) was identified in two brothers with isolated bilateral microphthalmia and sclerocornea. PMID: 26130484
- First study to demonstrate the involvement of NDP among patients with Indian familial exudative vitreoretinopathy (FEVR) that further expands its mutation spectrum. PMID: 27217716
- 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. PMID: 26158506
- Genetic evaluation of a case of bilateral leukocoria and asymmetric microphthalmia revealed a previously undescribed mutation in the Norrie disease protein gene. PMID: 26459204
- Norrin may play a role in the regulation of angiogenesis. PMID: 25005225
- 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. PMID: 24801666
- Norrie disease was diagnosed in three patients from a Japanese family by clinical examination and was confirmed by genetic analysis. PMID: 25023092
- Norrin induces the formation of a ternary complex with Fz4 and Lrp5/6 by binding to their respective extracellular domains PMID: 24186977
- Report of a missense mutation, p.Arg41Ser, in NDP causing Norrie disease in an Indian family. PMID: 22674248
- Multi-functional norrin is a ligand for the LGR4 receptor. PMID: 23444378
- NDP mutations are common cause of Norrie disease but might be rare cause for familial exudative vitreoretinopathy (FEVR) in Chinese. PMID: 22563645
- In cases of dysplastic retinas with bilateral multiple unclear pseudotumourous lesions, cytology seems to be a useful tool to differentiate in a very short term patients with Norrie's syndrome from those with retinoblastoma or lymphoma. PMID: 21159148
- Norrin has a neuroprotective role for retinal neurons independent from its role on the growth of retinal capillaries. PMID: 22183393
- Mutation screening of the NDP gene identified a novel nonsense mutation, c.343C>T. PMID: 21179243
- A novel Norrin missense mutation, p.Arg41Thr, was identified in two apparently unrelated families with Norrie disease PMID: 20491809
- Studies report 21 novel variants for FZD4, LRP5, and NDP. PMID: 20340138
- family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe Norrie disese phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar PMID: 20227630
- 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. PMID: 20427659
- Norrin is a potent factor that induces angiogenesis in microvascular and endothelial cells following oxygen-induced retinal vessel loss. PMID: 20053900
- de novo mutations in the 5' regulatory region in retinopathy of prematurity PMID: 11748312
- Data show a strong association between the AA genotype of the C597A Norrie disease gene polymorphism and progression of retinopathy of prematurity. PMID: 12145535
- No Norrie Disease (ND) gene mutations were detected. PMID: 12546446
- DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. PMID: 15609522
- Here we report two novel mutations in the NDP gene in Mexican patients and propose that GeneScan is a viable mean of establishing ND carrier status. PMID: 15799735
- NDP polymorphisms may play a role in the pathogenesis of retinopathy of prematurity, but do not appear to be a major causative factor. PMID: 16052165
- We discuss Wnts and a novel Frizzled ligand, Norrin, in physiological and pathological angiogenesis. PMID: 16714476
- We found genetic testing of NDP to be helpful in confirming the diagnosis of X-linked FEVR (familial exudative vitreoretinopathy) in male patients, especially when limited family history was available. PMID: 17050281
- Norrin binds to the Frizzled4 cysteine-rich domain (CRD) and does not detectably bind to 14 other mammalian Frizzled and secreted Frizzled-related protein CRDs. PMID: 17158104
- Patients exhibiting severe retinal dysgenesis should be suspected of carrying a mutation that disrupts the cysteine-knot motif in the NDP gene. PMID: 17296899
- These observations indicate that mutations of the NDP gene can cause ND(Norrie disease) and 6% of FEVR(familial exudative vitreoretinopathy) cases in the Japanese population. PMID: 17325173
- A novel missense mutation at position c.134T > A resulting in amino acid change at codon V45E in Norrie disease with neurological disorder and infantile spasms. PMID: 17334993
- Norrin mutants demonstrated variable effects on signal transduction, and no apparent correlation with clinical phenotypes was observed. PMID: 17955262
- correlation of ophthalmic examination with carrier status for asymptomatic females from a family known to harbor a severe ND gene mutation (C95F) PMID: 18387409
- We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders. PMID: 19373682
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相關(guān)疾病:Norrie disease (ND); Vitreoretinopathy, exudative 2 (EVR2)
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亞細(xì)胞定位:Secreted.
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組織特異性:Expressed in the outer nuclear, inner nuclear and ganglion cell layers of the retina, and in fetal and adult brain.
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