April 2019 in “Journal of Investigative Dermatology” This study found that frontal fibrosing alopecia involves distinct molecular changes, such as downregulation of steroid and cholesterol pathways and upregulation of fibrotic and immune response genes, which may help guide treatment strategies.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” This study on Sdr16c5/Sdr16c6-null mice found that inactivating these genes significantly increased Meibomian gland secretions and altered lipid profiles but had a subtle impact on sebogenesis, suggesting the genes control a bifurcation point in meibogenesis pathways.
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
January 2000 in “Alambique: Didáctica de las ciencias experimentales” This study found that impairments in cholesterol biosynthesis in hair follicles of primary cicatricial alopecia patients trigger an inflammatory immune response, potentially linking sterols to inflammation in the disease's pathogenesis.