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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

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. 1

Keratinocytes from affected plantar hyperkeratosic skin of RSPO1-mutated patient displays differentiation impairment and EMT-like phenotype. A Immunoblots of PCNA, p63, p53, 14–3-3 sigma, involucrin (IVL) in keratinocytes from affected plantar (ANp) and unaffected abdominal (ANa) skin of RSPO1-mutated XX-sex reversed patient AN, and from plantar (Cp) and abdominal (Ca) skin of aged-matched unrelated donor. Densitometric values were normalized to GAPDH levels. HeLa and A431 cell lines were positive controls for PCNA and p53, respectively. B Representative images of colony forming efficiency (CFE) of Cp and ANp cultures. C CFE values and percentage of aborted colonies (paraclones) in Cp and ANp cultures (n = 3). Data are shown as mean ± SD. *P < 0.05. D Immunoblots of E-cadherin and vimentin in ANp, ANa, Cp and Ca keratinocyte cultures. Densitometric values were normalized to GAPDH levels. E Immunoblots of Wnt-3a, Wnt-4, Wnt5a, Wnt-10a and Lgr5 in ANp and Cp keratinocyte cultures. Densitometric values were normalized to GAPDH levels and expressed as fold change. Human fibroblasts (HF) were positive controls for Wnt-3a.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172