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Article

Epidermal growth factor receptor inhibition leads to cellular phenotype correction of DSP-mutated keratinocytes.

Experimental dermatology - 1 Mar 2024

Andrei Daniela, Bremer Jeroen, Kramer Duco, Nijenhuis Albertine M, van der Molen Marije, Diercks Gilles F H, van den Akker Peter C, Vermeer Mathilde C S C, van der Meer Peter, Bolling Maria C

Abstract excerpt

Desmoplakin (DSP) is a desmosomal component expressed in skin and heart, essential for desmosome stability and intermediate filament connection. Pathogenic variants in the DSP gene encoding DSP, lead to heterogeneous skin, adnexa and heart-related phenotypes, including skin fragility, woolly hair (WH), palmoplantar keratoderma (PPK) and arrhythmogenic/dilated cardiomyopathy (ACM/DCM). The ambiguity of...

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Identifiers

PMID: 38509711
DOI: 10.1111/exd.15046

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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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