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.

doi:10.1186/s13023-022-02434-2

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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.

Orphanet journal of rare diseases - 19 Jul 2022

Dellambra Elena, Cordisco Sonia, Delle Monache Francesca, Bondanza Sergio, Teson Massimo, Nicodemi Ezio Maria, Didona Biagio, Condorelli Angelo Giuseppe, Camerino Giovanna, Castiglia Daniele, Guerra Liliana

Abstract excerpt

BACKGROUND: Secreted R-spondin (RSPO) proteins play a key role in reproductive organ development, epithelial stem cell renewal and cancer induction by reinforcing canonical Wnt signaling. We have previously reported that palmoplantar keratoderma (PPK), predisposition to cutaneous squamous cell carcinoma (SCC) development and sex reversal segregate as autosomal recessive trait in patients carrying RSPO1-mutations....

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Identifiers

PMID: 35854363
DOI: 10.1186/s13023-022-02434-2
PMCID: PMC9295301

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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