Corpus ID: 82329454

Vascular Endothelial-cadherin plays a role in regulating the Norrin-FZD4 pathway and can cause Familial Exududative- vitroretinopathy (FEVR).

@inproceedings{Amasheh2015VascularEP,
  title={Vascular Endothelial-cadherin plays a role in regulating the Norrin-FZD4 pathway and can cause Familial Exududative- vitroretinopathy (FEVR).},
  author={R. Amasheh},
  year={2015}
}
FEVR is a genetic disorder that causes abnormal vascularization of the retina, which can lead to retinal detachment and blindness. Mutations in the genes encoding Norrin, LRP5, FZD4 and TSPAN12 can cause FEVR. Interestingly, these genes encode proteins that belong to the Norrin-FZD4 signalling pathway that ultimately activate β-catenin to upregulate gene transcription. Mutations in the pathway are thought to cause FEVR due to the lack of β-catenin translocating to the nucleus, however the… Expand

Figures from this paper

References

SHOWING 1-10 OF 45 REFERENCES
TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling
TLDR
The data indicate that Norrin multimers and TSPAN12 cooperatively promote multimerization of FZD4 and its associated proteins to elicit physiological levels of signaling. Expand
Vascular Development in the Retina and Inner Ear Control by Norrin and Frizzled-4, a High-Affinity Ligand-Receptor Pair
TLDR
It is shown that Norrin and Fz4 function as a ligand-receptor pair that plays a central role in vascular development in the eye and ear, and it is indicated that ligands unrelated to Wnts can act through Fz receptors. Expand
A model for familial exudative vitreoretinopathy caused by LPR5 mutations.
TLDR
Direct evidence that LRP5 is essential for the development of retinal vasculature is provided, and a novel role played by L RP5 in capillary maturation is suggested, and this study provides direct evidence that the mutant LRP4 mice can be a useful model to explore the clinical manifestations of FEVR. Expand
Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity
TLDR
FZD4 gene mutations were found in some cases of autosomal dominant and sporadic FEVR, and were responsible for FEVR with variable clinical manifestations. Expand
A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy
TLDR
Molecular analysis of the Norrie gene locus in a four generation FEVR family reveals a missense mutation in the highly conserved region of the NDP gene, suggesting that phenotypes of both XLFEVR and Norrie disease can result from mutations in the same gene. Expand
LRP5 Is Required for Vascular Development in Deeper Layers of the Retina
TLDR
LRP5 is not only essential for vascular endothelial cells to sprout, migrate and/or anastomose in the deeper plexus during retinal vasculature development but is also important for the functions of Müller cells and retinal interneurons. Expand
Tyrosine Phosphorylation of VE-cadherin Prevents Binding of p120- and β-Catenin and Maintains the Cellular Mesenchymal State*
TLDR
It is demonstrated that a single phosphorylation event within the VE-cadherin cytoplasmic tail is sufficient to maintain cells in a mesenchymal state during the cell invasion phase of angiogenesis. Expand
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature.
TLDR
Evidence is provided for a crucial role of Norrin in hyaloid vessel regression and in sprouting angiogenesis during retinal vascular development, especially in the development of the deep retinal capillary networks. Expand
The role of adherens junctions and VE-cadherin in the control of vascular permeability
TLDR
The possible use of inhibitors of SRC and other kinases, of agents that increase cAMP levels, and of inhibitor of lytic enzymes as pharmacological tools for decreasing endothelial permeability are discussed. Expand
Functional properties of human vascular endothelial cadherin (7B4/cadherin-5), an endothelium-specific cadherin.
TLDR
VE-cadherin may exert a relevant role in endothelial cell biology through control of the cohesion and organization of the intercellular junctions through controlled aggregation and cell-to-cell adhesion. Expand
...
1
2
3
4
5
...