FIGURE

Fig. 3

ID
ZDB-FIG-230114-11
Publication
Gangfuß et al., 2021 - Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
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Fig. 3

Proteomic profiling of WASHC4 patient-derived fibroblasts. (A) Protein enrichment plot along the entire abundance range. Proteins highlighted in black represent the results of control samples, sorted by abundance. Proteins highlighted in red represent the abundance of WASHC4 patient-derived fibroblasts, left in the same order as the proteins of the control samples to highlight differences in their expression. (B) Volcano plot of proteomic data depicting the log2 fold-change of identified proteins against the –log10 pValue. Red dots represent proteins showing a significant decrease, whereas green dots represent proteins with a significant increase in abundance by comparing control against WASHC4 patient-derived fibroblasts. (C) GO term analysis depicting different biological processes and cellular compartments significantly regulated by comparing control samples against WASHC4 patient-derived fibroblasts. Upregulated (I) and downregulated (II) biological processes, sorted by level of significance and enrichment, respectively. III and IV depict upregulated and downregulated cellular compartments, respectively.

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
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