TLDR Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
The study investigated the effects of overexpressing human kallikrein 14 (KLK14) in transgenic mice (TghKLK14) and found significant hair shaft defects and abnormal epidermal differentiation. These defects were linked to the degradation of desmoglein 3 and 4, essential for cell adhesion in the epidermis. Additionally, the mice exhibited increased expression of inflammatory markers such as IL-36A and IL-17C, indicating an inflammatory response. The findings suggested that KLK14 played a critical role in hair and skin pathology, offering potential insights into conditions like Netherton Syndrome. The study included multiple experiments with at least four mice per genotype, ensuring robust data.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
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August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
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October 2014 in “Methods” The document explains how to create detailed biological pathways using genomic data and tools, with examples of hair and breast development.
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.