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pachyonychia congenita/glutathione

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Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.

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Sex is an influential factor regarding pathophysiology and therapeutic response in human disease. Pachyonychia congenita is caused by mutations in keratin genes and typified by dystrophic lesions affecting nails, glands, oral mucosa, and palmar-plantar epidermis. Painful palmar-plantar keratoderma

Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.

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Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16
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