The Epidermal Transcriptome Analysis of a Novel c.639_642dup <i>LORICRIN</i> Variant-Delineation of the Loricrin Keratoderma Pathology

The Epidermal Transcriptome Analysis of a Novel c.639_642dup <i>LORICRIN</i> Variant-Delineation of the Loricrin Keratoderma Pathology

Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by <i>LORICRIN</i> gene mutations. The pathogenesis of the disease is not yet fully understood. So far, only 10 pathogenic variants in <i>LORICRIN</i> have been described, with all of them but one be...

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Main Authors: Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Bartłomiej Gielniewski, Bartosz Wojtaś, Alicja Szabelska-Beręsewicz, Joanna Zyprych-Walczak, Adriana Mika, Andrzej Tysarowski, Katarzyna Duk, Agnieszka Magdalena Rygiel, Katarzyna Niepokój, Katarzyna Woźniak, Cezary Kowalewski, Jolanta Wierzba, Aleksandra Jezela-Stanek
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:International Journal of Molecular Sciences
Subjects:
loricrin
loricrin keratoderma
transcriptome
mutation
Online Access:https://www.mdpi.com/1422-0067/24/11/9459

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