34 citations
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
165 citations
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January 2006 in “Molecular Medicine” Matriptase was a type II transmembrane serine protease crucial for epidermal barrier function, hair follicle growth, and thymocyte survival. Its activation involved complex proteolytic cleavages and interaction with the inhibitor HAI-1. Matriptase-deficient mice showed severe defects in epidermal barrier, hair growth, and increased thymocyte apoptosis, leading to perinatal mortality. Dysregulation of matriptase and HAI expression was linked to human cancers, with unopposed matriptase promoting carcinogenesis and metastasis in animal models. While matriptase was consistently expressed in various epithelial tumors, its expression varied across cancers, complicating its use as a prognostic marker. Inhibition of matriptase impaired tumor cell invasion, highlighting its role in malignant progression. Despite advances, many questions about its precise functions and mechanisms remained unanswered.
137 citations
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October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
28 citations
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December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.