학술논문
Disruption of tuftelin 1, a desmosome associated protein, causes skin fragility, woolly hair and palmoplantar keratoderma
Document Type
Article
Author
Verkerk, Annemieke J.M.H.; Andrei, Daniela; Vermeer, Mathilde C.S.C.; Kramer, Duco; Schouten, Marloes; Arp, Pascal; Verlouw, Joost A.M.; Pas, Hendri H.; Meijer, Hillegonda J.; van der Molen, Marije; Oberdorf-Maass, Silke; Nijenhuis, Miranda; Romero-Herrera, Pedro H.; Hoes, Martijn F.; Bremer, Jeroen; Slotman, Johan A.; van den Akker, Peter C.; Diercks, Gilles F.H.; Giepmans, Ben N.G.; Stoop, Hans; Saris, Jasper; van den Ouweland, Ans M.W.; Willemsen, Rob; Hublin, Jean-Jacques; Dean, M. Christopher; Hoogeboom, A. Jeannette M.; Silljé, Herman H.W.; Uitterlinden, André G.; van der Meer, Peter; Bolling, Maria C.
Source
Journal of Investigative Dermatology; 20230101, Issue: Preprints
Subject
Language
ISSN
0022202X; 15231747
Abstract
Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes. Here, we report tuftelin 1 as a desmosome-associated protein, implicated in epidermal integrity.