Dysfunction of Calcyphosine-Like gene impairs retinal angiogenesis through the MYC axis and is associated with familial exudative vitreoretinopathy.
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Inducible endothelial-specific deletion of Capsl in mouse (Pdgfb-iCreER, tamoxifen P1-P3) delays retinal vascular progression, reduces vessel density, branching, tip cells and filopodia, and reduces endothelial proliferation.
"the radial vascular growth, vessel density, and vascular branching were dramatically reduced in P5 iECKO retina relative to Ctrl mice"
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The retinal phenotype is endothelial-autonomous. Astrocytes, VEGFA, pericytes, barrier integrity and ECM are normal.
"In conclusion, EC-specific knockout of Capsl may mainly lead to defects in retinal vascular ECs rather than other vascular-associated cells."
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The vascular defect is transient and largely resolves by P21.
"By P21, EC growth was closely resembling control retinas in iECKO mice when angiogenesis almost complete"
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In human retinal endothelial cells, CAPSL knockdown lowers MYC protein but not MYC mRNA.
"Notably, the depletion of CAPSL significantly decreased the protein level of MYC, rather than the mRNA level in HRECs (Figure 7G)."
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CAPSL knockdown does not alter Norrin/beta-catenin (TopFlash) reporter activity.
"These results indicated that CAPSL was not a major player in Norrin/β-catenin signaling to regulate retinal vascular development."