5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
81 citations
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June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
18 citations
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June 2001 in “Journal of Investigative Dermatology” This study found that transfecting keratinocytes with the 1α-OHase gene enhances local production of 1α,25-dihydroxyvitamin D3, suggesting a potential new therapy for skin conditions like psoriasis without causing hypercalcemia or resistance.
16 citations
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September 2018 in “Scientific reports” This study demonstrates that keratinocyte cell lines derived from cultured hair follicles can fully differentiate in organotypic skin models, offering a minimally invasive alternative to obtaining keratinocytes for research.
3 citations
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September 2020 This study found that the medication dyclonine has a potent inhibitory effect on the TRPV3 channel, effectively rescuing cell death and alleviating pruritus symptoms in a mouse model with gain-of-function TRPV3 mutations, suggesting potential for treating skin inflammation.