34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
1 citations
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September 2025 in “PLoS ONE” This study found that disrupted cholesterol homeostasis in scalp samples from cicatricial alopecia patients hinders hair regrowth by affecting hair follicle stem cell markers, with resulting effects confirmed in vitro and in animal models.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that disrupted cholesterol homeostasis impairs hair regrowth in individuals with primary cicatricial alopecia by damaging hair follicle stem cells, highlighting the importance of cholesterol in maintaining stem cell function and hair follicle integrity.
22 citations
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June 2012 in “PLOS ONE” In this study, researchers found that impaired cholesterol biosynthesis in hair follicles may trigger an inflammatory immune response linked to primary cicatricial alopecia, providing new insights into the disorder's pathogenesis.
