What is it about?
ILK, a mediator of cell-matrix interactions, is indispensable for retinal angiogenesis. Inactivation of the murine Ilk gene in postnatal endothelial cells results in resembling phenotypes recognized in mouse models of FEVR. Screening genomic DNA samples from FEVR patients identify three distinct mutations in human ILK, which reveal the loss-of-function phenotype in vitro.
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Why is it important?
Defective Wnt/β-catenin signaling is an established cause of FEVR, whereas other molecular alterations contributing to the disease remain insufficiently understood. It is the first report that defective cell-matrix interactions are linked to Wnt signaling and FEVR.
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This page is a summary of: Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy, Nature Communications, November 2019, Springer Science + Business Media,
DOI: 10.1038/s41467-019-13220-3.
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