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Figure 5

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Publication: Tevar et al., 2024 - The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease
All Figures: Figures for Tevar et al., 2024

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Figure 5

Western blot analysis of ER stress associated with the expression in HEK-293T cells of four rare ADAMTSL4 variants identified in childhood glaucoma patients. HEK-293T cells were transfected with various cDNA constructs as explained in the legend of Figure 3. Forty-eight hours after transfection, cells lysates were prepared and analyzed by Western immunoblot. PDI, beta-actin (protein loading control), and NPTII (plasmid expression control) immunosignals were quantified by densitometry. PDI levels were normalized using beta-actin and NPTII. We conducted two independent transfections per cDNA construct, each performed in triplicate. *: p < 0.05. R98W: p.Arg98Trp. S719L: p.Ser719Leu. R774W: p.Arg774Trp. R1083H: p.Arg1083His.

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