FIGURE

FIGURE 4

ID

ZDB-FIG-191230-1124

Publication

Wang et al., 2019 - Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases

Other Figures

All Figure Page

Back to All Figure Page

FIGURE 4

WIPI1 variants and their expression of mRNA and protein. Human HEK 293 cells were cotransfected with pIRES2-dsRed and WIPI1 variants. At 48 h post-transfection, the cells were harvested for real-time PCR and Western blotting. (A)WIPI1 mRNA expression level was not influenced by WIPI1 R328Q, G313R, T418M, or L406P mutations. (B)WIPI1 L406P mutation affected WIPI1 protein expression, while WIPI1 R328Q, G313R, or T418M had no adverse effects on WIPI1 protein expression. (C) Relative WIPI1 mutant protein expression analysis. The data were derived from three independent experiments and expressed as mean ± SD. Data for WIPI1 mRNA and expression were normalized by GAPDH for each sample. Error bars represent standard error/deviation of the mean. The asterisk indicates a statistically significant difference between wild-type and L406P mutation (^∗∗P < 0.01; ^∗P < 0.05).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Front. Neurosci.