Figure 1
Transcriptome analysis of fibroblasts from CHH cases and healthy controls. (A) Male individual with CHH with disproportionate short stature and hair hypoplasia. (B) Heatmap showing genes that are significantly differentially expressed between fibroblasts from CHH cases and healthy controls as well as hierarchical clustering of the samples based on the expression of all these genes. Higher expression is marked in orange/red, lower in blue. The gene names (on the left) together with sample codes (above each column) can be visualized in the high-resolution image. An identical list of the genes included in the heatmap, in identical order, together with additional information is available also as Supplementary Table S4. Numbering of patient samples is identical to the numbering in Supplementary Table S1. Cases/controls and passages 1/2/3/4/5 are color-coded. For each of the five cases and five controls, we analyzed 2–4 samples from different passages. (C) Pie chart showing the 25 most enriched Gene Ontology, Biological processes terms (GO_BP categories) in CHH fibroblasts, based on genes that are significantly downregulated in the STRT analysis. Numbers depict the number of genes involved in each category. (D) KEGG Pathway analysis of the genes that are significantly downregulated in CHH fibroblasts (marked in red). Images were obtained by KEGG, Kanehisa Laboratories.
