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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development

Fig. 3

Differentially expressed genes in affected plantar hyperkeratotic skin of RSPO1-mutated patient vs plantar control. The expression level changes (Log2) of GO-enriched genes identified in primary keratinocytes from affected plantar (ANp) skin of RSPO1-mutated XX-sex reversed patient AN vs plantar (Cp) skin was shown. A Genes related to keratinocyte differentiation: the gene identity is listed on the left and localization by epidermal layers on the right. Protein function is reported in the upper legend. B Genes related to cell–cell junction: the gene identity is listed on the left and protein function in the upper legend. C Genes related to cell–matrix adhesion: the gene identity is listed on the left and protein function in the upper legend. D Genes related to ECM: the gene identity is listed on the left and protein function in the upper legend. Gene names corresponding to gene symbols are indicated in Additional file 1: Table S4

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172