The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Lor...
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology
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Author / Creator
Wertheim-Tysarowska, Katarzyna , Osipowicz, Katarzyna , Gielniewski, Bartłomiej , Wojtaś, Bartosz , Szabelska-Beręsewicz, Alicja , Zyprych-Walczak, Joanna , Mika, Adriana , Tysarowski, Andrzej , Duk, Katarzyna , Rygiel, Agnieszka Magdalena , Niepokój, Katarzyna , Woźniak, Katarzyna , Kowalewski, Cezary , Wierzba, Jolanta and Jezela-Stanek, Aleksandra
Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Loricrin keratoderma (LK) is a rare autosomal dominant genodermatosis caused by LORICRIN gene mutations. The pathogenesis of the disease is not yet fully understood. So far, only 10 pathogenic variants in LORICRIN have been described, with all of them but one being deletions or insertions. The significance of rare nonsense variants remains unclear....
Alternative Titles
Full title
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology
Authors, Artists and Contributors
Author / Creator
Osipowicz, Katarzyna
Gielniewski, Bartłomiej
Wojtaś, Bartosz
Szabelska-Beręsewicz, Alicja
Zyprych-Walczak, Joanna
Mika, Adriana
Tysarowski, Andrzej
Duk, Katarzyna
Rygiel, Agnieszka Magdalena
Niepokój, Katarzyna
Woźniak, Katarzyna
Kowalewski, Cezary
Wierzba, Jolanta
Jezela-Stanek, Aleksandra
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10254037
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10254037
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms24119459
