11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
June 2023 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” In this study, researchers found that knockdown of ABCA5 in primary human hair follicle keratinocytes disrupted cholesterol homeostasis and transportation, suggesting its potential role in hair growth disorders by affecting intracellular cholesterol compartmentalization and LXR-mediated transcriptional activity.
May 2023 in “International journal of molecular sciences” 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.
15 citations
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August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.