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This study investigated the role of the ABCA4 gene in human keratinocytes and hair follicle stem cells and found that silencing the ABCA4 gene increases the harmful effects of all-trans-retinal on hair follicle stem cells.

This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.

This study identified clinical features and genetic variants associated with early onset female pattern hair loss, highlighting decreased hair shaft density and specific SNPs related to androgenic features.

In this mouse study, researchers found that the Jieduquyuziyin prescription may lessen lupus-like symptoms and atherosclerosis by inhibiting TLR9/MyD88 signaling and promoting cholesterol efflux.