Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease
Stephanie Zimmer, Takuya Takeichi, Daniel E. Conway, Akiharu Kubo, Yasushi Suga, Masashi Akiyama, Andrew P. Kowalczyk
Topics & Concepts
DesmosomePalmoplantar keratodermaMissense mutationBiologyDesmogleinDesmoglein 3DyskeratosisMutationTransmembrane domainDesmoglein 1HyperkeratosisGeneticsCell biologyCadherinGeneCellAutoimmune diseaseAutoantibodyAntibodyWnt/β-catenin signaling in development and cancerSkin and Cellular Biology ResearchHippo pathway signaling and YAP/TAZ