April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, Mpzl3-/- mice developed severe seborrhea-like dermatitis with skin inflammation, indicating MPZL3's role in the skin condition's development, independent of adaptive immunity.
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
August 2024 in “Veterinary Dermatology” This study reported that topical ω‐0‐acylceramide improved skin barrier function in Jack Russell Terriers with TGM1-deficient autosomal recessive congenital ichthyosis, normalizing skin pH and reducing transepidermal water loss.
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October 2022 in “JCI insight” In this study, conditional deletion of BRD4 in OX40-expressing cells of mice led to alopecia, dermatitis, and loss of hair follicle stem cell function, revealing BRD4's role in skin inflammation and stem cell regulation.
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.