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Artemis dysfunction might cause hair loss through telomere shortening.

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.

This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.

This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.

This review outlines how peptidyl arginine deiminases (PADIs) and protein citrullination are involved in hair follicle regeneration and inflammatory alopecia, but presents no new clinical findings.

In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.

This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.

In this study, high doses of Lepidium sativum seeds extract were reported to cause toxicity and tissue damage in animals, suggesting the need for careful use under medical supervision.

Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.

A specific gene mutation causes severe skin and nail issues and hair loss.

This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.

This study suggests that unliganded vitamin D receptors in mice may cause more severe skeletal and mineral ion defects than VDR-null conditions, and vitamin D analogues may restore function in specific VDR mutations.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.

This study reported that gain-of-function mutations in TRPV3 lead to hair loss in mice by disrupting inner root sheath keratinocyte differentiation, ultimately causing follicular keratinocyte stem cell exhaustion and permanent follicle disruption.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.

This study suggests that specific genetic changes, including mutations in protein-coding genes and noncoding regions, have contributed to the evolution of hairlessness in multiple mammalian species.

This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.

This case report suggests that tofacitinib may effectively manage symptoms of AGS7 in a patient with an IFIH1 mutation, though further studies are needed to confirm its long-term safety and efficacy.

In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.

This article reviews the role of keratins in epithelial function and structure, discussing their involvement in growth control, organelle functions, and pathomechanisms of disorders, but reports no new clinical results.

This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.

This review discusses the role of tumor suppressors in controlling tumor-associated inflammation and suggests that targeting this inflammation may counteract the effects of tumor suppressor loss.

This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.

A new gene mutation may allow some piebaldism patients to regain skin color in white patches.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.