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In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.

This study investigated the effects of pathological α-synuclein on sebaceous gland cells in Parkinson's disease, finding that α-synuclein exposure altered cellular differentiation and lipid production, suggesting a potential link between α-synuclein and lipid dysregulation in the skin of PD patients.

This study found that enhancing quercetin bioavailability with EubioQuercetin significantly improved external aging signs in mice and influenced gut microbiota and intestinal gene expression, suggesting potential modulation through the gut microbiota–intestinal barrier axis.

This study found that certain genetic variants, specifically CYB5R1 and IL1A, may be linked to different types of acne scarring, with CYB5R1 associated with atrophic scarring and IL1A with fibrotic scarring, indicating a potential polygenic nature of acne scarring.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

This study found that using 3D total body imaging with convolution neural networks accurately identifies risk phenotypes for melanoma, suggesting improved objective stratification for early detection and prevention.

This study observed that circulating testosterone affects baseline sex differences in voiding function in C57BL/6J mice, with prostate lobe mass having a lesser impact.

GLP-1 therapies can cause hair loss, but hair often regrows after stopping or reducing the drug.

This study suggests that targeting skin-infiltrated memory phenotype T cells could offer a new therapeutic approach to manage lymphopenia-related diseases like graft-versus-host disease and immune reconstitution inflammatory syndrome.

This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.

This study identifies a strong association between a 505-bp indel mutation in the FGF5 gene and cashmere growth in goats, suggesting potential use as a genetic marker in breeding programs.

This study found that manipulating 5αR2 activity in human hepatocytes in vitro can regulate lipogenesis, with potential clinical implications for patients taking 5αR inhibitors.

This study found that maternal hephaestin knockout in mice leads to neonatal hair loss, likely due to low iron levels in the mother's milk.

The study found that enhancing quercetin bioavailability with EubioQuercetin may amplify its anti-aging effects in mice by modulating the gut microbiota and improving intestinal barrier function.

This study suggests that short telomeres may produce similar aging-related symptoms across different segmental progeroid syndromes, offering potential insights into normative aging processes.

This study found that minoxidil and finasteride, commonly used for androgenetic alopecia, were associated with different arrhythmia profiles in adverse event reports: minoxidil predominantly with supraventricular arrhythmias and finasteride primarily with ventricular arrhythmias in men.

This study aimed to identify new quantitative geometric and mechanical parameters for curly and kinky hair using various microscopy and mechanical analysis methods, revealing correlations between hair fiber geometry and mechanical performance to enhance personal care product development and promote cultural inclusion.

This study reports that NIH PCOS is linked to more severe metabolic issues, including higher obesity and insulin resistance, compared to non-NIH PCOS phenotypes.

This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.

This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.

This study found that deleting FoxN1 in specific thymic epithelial cells disrupted the 3D thymic structure and led to age-dependent formation of 2D epithelial cysts, highlighting FoxN1's critical role in thymic morphogenesis.

The researchers reported that among Mediterranean Sicilian women with PCOS, Phenotype B exhibited the most severe metabolic abnormalities, notably obesity and altered glucose metabolism, whereas Phenotype D showed no such issues.

This study presents the first documented case of a woman with Alström syndrome successfully conceiving and giving birth, highlighting the importance of managing systemic comorbidities during pregnancy.

In this retrospective cohort study, no significant differences were observed in assisted reproductive outcomes among different PCOS phenotypes undergoing frozen-thawed embryo transfer.

This study found significantly elevated central corneal thickness and intraocular pressure in patients with polycystic ovary syndrome, suggesting it should be considered in evaluating anterior segment diseases and glaucoma in women.

Stem cells are in deep skin layers, while differentiating cells are in shallow layers.

Hedgehog signaling helps keep hair follicle stem cells the same in both young and old human skin.

This study found that brothers of women with PCOS exhibit elevated DHEAS levels, indicating a potential familial genetic trait, but did not show increased rates of premature balding.

This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.

In this study, 62.7% of patients with alopecia areata had deficient vitamin D levels, yet there was no significant link between these levels and specific alopecia areata patterns.