April 2017 in “Journal of dermatological science” This study found that while epidermal PLCγ1 is not necessary for keratinocyte differentiation in interfollicular epidermis, it is crucial for normal hair and sebaceous gland formation in mice.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
7 citations
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March 2024 in “Skin Research and Technology” This study identified miR-200c-3p as influencing key genes in the EGFR resistance pathway, suggesting its potential theranostic role in addressing issues related to this pathway.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.