83 citations
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May 2011 in “European Journal of Dermatology” This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
31 citations
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August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
2 citations
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October 2012 in “Experimental Dermatology” This study found that, despite the unchanged total level of 18-MEA, deletion of the Sox21 gene disrupts its attachment to the hair cuticle, increases cholesterol sulphate levels, and differentially affects ceramide composition.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.