803 Editing a missense to a nonsense keratin 9 gene mutation restores intermediate filament integrity

Autor: T. Trafoier, D. Ortner-Tobider, S. Hainzl, T. Kocher, U. Koller, J. Bauer, M. Rhiel, G. Andrieux, T. Cornu, T. Cathomen, J. Reichelt, C. Heufler Tiefenthaler, M. Schmuth

Publikováno v: Journal of Investigative Dermatology. 143:S138

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4830145a22f2834f4a0095a7aa2f86d6
https://doi.org/10.1016/j.jid.2023.03.813

126 Lipidomic analysis of tissue layers in healthy skin

Autor: T. Trafoier, T. Raunegger, M. Schmuth

Publikováno v: Journal of Investigative Dermatology. 141:S169

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9ed5cbffb1c1d6e56ec8e92c71fd060
https://doi.org/10.1016/j.jid.2021.08.129

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Keratin variants in monilethrix.

Autor: Ortner-Tobider D; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck; Innsbruck, Austria., Trafoier T; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck; Innsbruck, Austria., Moosbrugger-Martinz V; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck; Innsbruck, Austria., Tollinger S; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck; Innsbruck, Austria., Gruber R; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck; Innsbruck, Austria.; Karl Landsteiner Institute for Pediatric Dermatology and Rare Diseases, Innsbruck, Austria.; European Reference Network for rare skin diseases (ERN Skin), Innsbruck, Austria., Schmuth M; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck; Innsbruck, Austria.; Karl Landsteiner Institute for Pediatric Dermatology and Rare Diseases, Innsbruck, Austria.; European Reference Network for rare skin diseases (ERN Skin), Innsbruck, Austria.

Publikováno v: The British journal of dermatology [Br J Dermatol] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.