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Article

Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.

The Journal of investigative dermatology - 1 Aug 2022

Vermeer Mathilde C S C, Silljé Herman H W, Pas Hendri H, Andrei Daniela, van der Meer Peter, Bolling Maria C

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Identifiers

PMID: 35031308
DOI: 10.1016/j.jid.2021.12.027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Keratin 14 Degradation and Aging in Epidermolysis Bullosa Simplex due to KLHL24 Gain-of-Function Variants.PMID 35031308Read ↗

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Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex.Semantic proximity Read ↗

The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.Semantic proximity Read ↗

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.Semantic proximity Read ↗

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