| Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/beta-Catenin Pathway Activation. | Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Liu M, Dai E, Yang M, Li S, Fan L, Liu Y, Xiao H, Zhao P, Yang Z., Free PMC Article | 04/4/2024 |
| Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree. | Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
Jiang K, Wang S, Sun H, Peng C, Li N, Li S, Gao R, Zhang J., Free PMC Article | 02/4/2024 |
| NDP-related retinopathies: clinical phenotype of female carriers. | NDP-related retinopathies: clinical phenotype of female carriers.
Huang L, Sun L, Li X, Li S, Zhang T, Zhang Z, Ding X., Free PMC Article | 07/27/2023 |
| Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR. | Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Trang DT, Phu NM, Hung DM, Nhung VP, Ha NN, Thuong MTH, Ngoc TTB, Hiep NX, Ton ND, Hai NV, Ha NH., Free PMC Article | 05/5/2023 |
| A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy. | A comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Zhao R, Dai E, Wang S, Zhang X, He Y, Peng L, Zhao P, Yang Z, Yang M, Li S. | 02/11/2023 |
| Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease. | Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Zhao X, Gao C, Li L, Jiang L, Wei Y, Che F, Liu Q. | 01/11/2023 |
| Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy. | Whole-Exome Sequencing Reveals Novel NDP Variants in X-Linked Familial Exudative Vitreoretinopathy.
Peng Y, Zhao R, Dai E, Peng L, He Y, Li S, Yang M. | 10/8/2022 |
| Ocular manifestations of Chinese patients with copy number variants in the NDP gene. | Ocular manifestations of Chinese patients with copy number variants in the NDP gene.
Huang L, Zhang L, Li X, Lu J, Sun L, Chen L, Ding X, Li Z., Free PMC Article | 06/11/2022 |
| Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11. | Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11.
Yang J, Xiao X, Li S, Mai G, Jia X, Wang P, Sun W, Zhang Q. | 04/16/2022 |
| Ocular phenotype and genetical analysis in patients with retinopathy of prematurity. | Ocular phenotype and genetical analysis in patients with retinopathy of prematurity.
Tao T, Meng X, Xu N, Li J, Cheng Y, Chen Y, Huang L., Free PMC Article | 01/22/2022 |
| Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report. | Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.
Younes ST, Shiflett JM, Weaver K, Smith A, Herrington B, Taylor C, Reddy K. | 01/1/2022 |
| PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. | PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.
Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG. | 10/30/2021 |
| Catenin alpha 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/beta-catenin signaling. | Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.
Zhu X, Yang M, Zhao P, Li S, Zhang L, Huang L, Huang Y, Fei P, Yang Y, Zhang S, Xu H, Yuan Y, Zhang X, Zhu X, Ma S, Hao F, Sundaresan P, Zhu W, Yang Z., Free PMC Article | 10/2/2021 |
| A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease. | A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease.
Lin M, Lu Y, Sui Y, Ni X, Li H, Chen X, Zhao N, Jiang M. | 06/26/2021 |
| Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy. | Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
Jia LY, Ma K., Free PMC Article | 05/15/2021 |
| Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/beta-Catenin Signaling Pathway. | Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway.
Han S, Sun J, Yang L, Qi M., Free PMC Article | 02/13/2021 |
| Norrin mediates tumor-promoting and -suppressive effects in glioblastoma via Notch and Wnt. | Norrin mediates tumor-promoting and -suppressive effects in glioblastoma via Notch and Wnt.
El-Sehemy A, Selvadurai H, Ortin-Martinez A, Pokrajac N, Mamatjan Y, Tachibana N, Rowland K, Lee L, Park N, Aldape K, Dirks P, Wallace VA., Free PMC Article | 02/6/2021 |
| Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report. | Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA., Free PMC Article | 01/9/2021 |
| Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India. | Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.
Zhu X, Sun K, Huang L, Ma S, Hao F, Yang Z, Sundaresan P, Zhu X. | 10/10/2020 |
| Due to its ability to both activate follicular keratinocytes and angiogenesis, findings suggest that modulation of norrie disease protein (Norrin) secretion during hair follicle (HF)cycling or pathologies deserves to be further studied. | Extracellular Vesicles from Activated Dermal Fibroblasts Stimulate Hair Follicle Growth Through Dermal Papilla-Secreted Norrin.
le Riche A, Aberdam E, Marchand L, Frank E, Jahoda C, Petit I, Bordes S, Closs B, Aberdam D. | 07/4/2020 |
| Norrin expression is elevated in the parenchymal cells, but not endothelial cells, in gastric cancer (GC). Moreover, Norrin is required for growth and invasion of GC cells and its expression status is associated with unfavorable outcomes. | Norrin maintains malignancy of gastric cancer cells in part through activating AKT signaling.
Liu L, Qin ZY, Liu Q, Wen LZ, Liu KW, Guo Y, Zhou YB, Wang B, Chen DF, Wang T. | 02/22/2020 |
| The proband with Norrie disease and other 3 male patients have all carried a hemizygote c.361C>T (p.Arg121Trp) missense variant of the NDP gene, for which his mother, grandmother and two younger female cousins were heterozygous carriers | [Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree].
Yang F, Xiang J, Li H, Zhang Q. | 01/18/2020 |
| Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy. | Variable reduction in Norrin signaling activity caused by novel mutations in FZD4 identified in patients with familial exudative vitreoretinopathy.
Tian T, Zhang X, Zhang Q, Zhao P., Free PMC Article | 06/15/2019 |
| 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. | Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function.
Zhang C, Lai MB, Khandan L, Lee LA, Chen Z, Junge HJ., Free PMC Article | 12/22/2018 |
| 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. | A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.
Andarva M, Jamshidi J, Ghaedi H, Daftarian N, Emamalizadeh B, Alehabib E, Taghavi S, Pouriran R, Darvish H. | 10/27/2018 |