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This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.

In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.

This study found that the enzyme glutamine synthetase is distributed throughout the epidermis and its activity in keratinocytes is notably increased by ammonium ions, suggesting the skin serves as a reservoir for glutamine generation.

This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.

This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.

This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

This study found that both types of sheep hair follicle transglutaminases were calcium-dependent, contradicting earlier reports of calcium independence in this enzyme.

This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.

This study found that polyamines enhance genome integrity by facilitating homologous recombination-mediated DNA repair, suggesting a novel role for polyamines beyond promoting cell growth and proliferation.

This study suggests that a newly discovered protein, AMY117, found in Alzheimer's disease brain lesions may be crucial in the disease's development and progression.

This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.

This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.

This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

This review discusses the role of the TOR pathway in aging and suggests that rapamycin could potentially target age-related diseases, but reports no new clinical results.

This review discusses the genetic factors contributing to androgenetic alopecia and highlights the potential for developing more effective therapies based on recent discoveries, but reports no new clinical results.

This study indicated that while testosterone replacement in older men with low testosterone increases muscle mass and strength and reduces fat, its effects on physical function, disability, falls, or fractures remain unclear.

This study found that red ginseng oil and its major components improved hair regrowth in testosterone-treated mice by promoting an earlier anagen phase and altering related gene expressions.

This study found that Wnt3a increased beta-catenin signaling and upregulated specific genes in cultured human dermal papilla cells, enhancing their response to PGE2 and potentially aiding hair growth.

This review highlights the potential of natural product-derived compounds, such as flavonoids and alkaloids, to reverse multidrug resistance in tumors, emphasizing their role in regulating signaling pathways, proteins, and genes related to MDR, and aims to guide future research efforts in this area.

This study found that taxol induces apoptosis in dermal papilla cells, affecting protein expression related to biological processes and potentially contributing to taxol-induced alopecia.

This study found that extract of Hura crepitans inhibited androgen-accelerated NT-4 activity and ameliorated the retardation of hair regrowth in dihydrotestosterone-implanted mice, suggesting a potential role for NT-4 inhibitors in AGA.