Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
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ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureThe Norrin/Frizzled4 signaling pathway in retinal vascular development and diseaseCritical Endothelial Regulation by LRP5 during Retinal Vascular DevelopmentFrizzled Receptors in Development and DiseaseWhole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesisCanonical WNT signaling components in vascular development and barrier formation.Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function.Analysis of candidate genes for macular telangiectasia type 2Gpr124 controls CNS angiogenesis and blood-brain barrier integrity by promoting ligand-specific canonical wnt signalingAn essential role of the cysteine-rich domain of FZD4 in Norrin/Wnt signaling and familial exudative vitreoretinopathy.The role of the hypoxia response in shaping retinal vascular development in the absence of Norrin/Frizzled4 signaling.Familial exudative vitreoretinopathy and related retinopathies.Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.Deletion of LRP5 in VLDLR knockout mice inhibits retinal neovascularization.Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patientsWhole exome sequence analysis of Peters anomaly.The genetic control of avascular area in mouse oxygen-induced retinopathyMutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.Modulation of Wnt/β-catenin signaling pathway by bioactive food components.How genetics works? An illustrative case report.Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Frizzled and LRP5/6 receptors for Wnt/β-catenin signalingGenetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVRLRP5 and bone mass regulation: Where are we now?Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathyHaploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.How rare bone diseases have informed our knowledge of complex diseases.The inner blood-retinal barrier: Cellular basis and development.Structure and functional properties of Norrin mimic Wnt for signalling with Frizzled4, Lrp5/6, and proteoglycan.Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling.Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.Wnt5a promotes Frizzled-4 signalosome assembly by stabilizing cysteine-rich domain dimerizationScreening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.Investigating the Molecular Mechanisms Behind Uncharacterized Cysteine Losses from Prediction of Their Oxidation State.
P2860
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P2860
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Overview of the mutation spect ...... riants in FZD4, LRP5, and NDP.
@en
Overview of the mutation spect ...... riants in FZD4, LRP5, and NDP.
@nl
type
label
Overview of the mutation spect ...... riants in FZD4, LRP5, and NDP.
@en
Overview of the mutation spect ...... riants in FZD4, LRP5, and NDP.
@nl
prefLabel
Overview of the mutation spect ...... riants in FZD4, LRP5, and NDP.
@en
Overview of the mutation spect ...... riants in FZD4, LRP5, and NDP.
@nl
P2093
P2860
P356
P1433
P1476
Overview of the mutation spect ...... riants in FZD4, LRP5, and NDP.
@en
P2093
Anthonie J van Essen
Arijit Mukhopadhyay
C Erik van Nouhuys
Deborah Shears
F Nienke Boonstra
Frans P M Cremers
Hanka Venselaar
Ilse J de Wijs
Johanna M M Hooymans
Konstantinos Nikopoulos
P2860
P304
P356
10.1002/HUMU.21250
P577
2010-06-01T00:00:00Z