28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
This study identified genetic regions evolving at different rates in hairless mammals, suggesting that specific genomic changes may contribute to the evolution of hairlessness across various species.
4 citations
,
September 2004 in “Experimental Dermatology” This article reviews the role of epidermal proteins and their complex gene families in maintaining skin integrity and highlights insights gained from genetic studies and mouse models, without providing new clinical results.
2 citations
,
September 2004 in “Experimental Dermatology” This study found that desmosomal adhesion plays a crucial role in epithelial morphogenesis and cell positioning, equivalent in importance to that of adherens junctions.