A model for familial exudative vitreoretinopathy caused by LPR5 mutations
about
Genetic susceptibility to advanced retinopathy of prematurity (ROP)The Norrin/Frizzled4 signaling pathway in retinal vascular development and diseaseRetinal vasculature of adult zebrafish: in vivo imaging using confocal scanning laser ophthalmoscopy.The Wnt receptor, Lrp5, is expressed by mouse mammary stem cells and is required to maintain the basal lineageThe Wnt co-receptor Lrp6 is required for normal mouse mammary gland developmentNorrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization.Severe retinal degeneration caused by a novel rhodopsin mutation.Canonical WNT signaling components in vascular development and barrier formation.LRP5 is required for vascular development in deeper layers of the retina.Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function.Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonatesRetinal expression of Wnt-pathway mediated genes in low-density lipoprotein receptor-related protein 5 (Lrp5) knockout mice.The role of the hypoxia response in shaping retinal vascular development in the absence of Norrin/Frizzled4 signaling.Functional analysis of disease-associated polymorphism LRP5.Q89RFamilial exudative vitreoretinopathy and related retinopathies.Deletion of LRP5 in VLDLR knockout mice inhibits retinal neovascularization.NHE8 is essential for RPE cell polarity and photoreceptor survival.The role of Vldlr in intraretinal angiogenesis in mice.Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients.How genetics works? An illustrative case report.Pressure-Induced Alterations in PEDF and PEDF-R Expression: Implications for Neuroprotective Signaling in Glaucoma.Secreted and transmembrane wnt inhibitors and activators.Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVRWNT/Frizzled signalling: receptor-ligand selectivity with focus on FZD-G protein signalling and its physiological relevance: IUPHAR Review 3Differentiation of the brain vasculature: the answer came blowing by the Wnt.A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral densityFamilial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations.Mouse b-wave mutants.TSPAN12 Is a Norrin Co-receptor that Amplifies Frizzled4 Ligand Selectivity and Signaling.Wnt signaling mediates pathological vascular growth in proliferative retinopathyNorrin treatment improves ganglion cell survival in an oxygen-induced retinopathy model of retinal ischemia.Molecular Regulation of Sprouting Angiogenesis.Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells.Familial Exudative Vitreoretinopathy.The genetics of retinopathy of prematurity: a model for neovascular retinal disease
P2860
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P2860
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@ast
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@en
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@nl
type
label
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@ast
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@en
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@nl
prefLabel
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@ast
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@en
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@nl
P2093
P2860
P3181
P356
P1476
A model for familial exudative vitreoretinopathy caused by LPR5 mutations
@en
P2093
Catherine Cheng
Chun-Hong Xia
Debra Cheung
Haiquan Liu
Xiaohua Gong
P2860
P304
P3181
P356
10.1093/HMG/DDN047
P407
P577
2008-06-01T00:00:00Z