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This study found that in a mouse model of Leigh syndrome, rapamycin alters brain proteome and may extend survival by targeting protein kinase C.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

This study suggests that inhibiting PKC, similar to rapamycin treatment, can extend lifespan and reduce neurological symptoms and inflammation in mice with mitochondrial dysfunction, potentially involving the mTORC2 pathway.

Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.

This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

This hypothesis paper suggests that PCOS may result from genetically determined ovarian hypersecretion of androgens, influencing hormone regulation and insulin resistance, with obesity further affecting its severity; no new clinical results are reported.

This study estimates the total cost of evaluating and treating polycystic ovary syndrome in reproductive-aged women in the United States to be $4.36 billion, suggesting more liberal screening could be beneficial.

This article reviews the complex pathophysiology of polycystic ovary syndrome, highlighting how genetic, hormonal, and environmental factors contribute to its diverse symptoms, and reports no new results.

This review discusses the mechanisms linking obesity and polycystic ovary syndrome and explores potential management options, but it presents no original research findings.

This article reviews polycystic ovary syndrome in adolescents, highlighting its endocrine and metabolic features, and reports no new clinical findings; the etiology may involve early-life abnormalities in androgen production.

This review discusses the impact of weight gain and obesity on the development of polycystic ovary syndrome and explores lifestyle strategies to manage the condition, without reporting new clinical results.

This review discusses the relationship between insulin regulation and hyperandrogenemia in polycystic ovary syndrome, suggesting potential benefits of insulin-lowering treatments for ovarian function but reporting no definitive results for hair-related symptoms.

This review examines the relationship between glycation, insulin resistance, and PCOS, discussing various treatments and highlighting M. oleifera and S. platensis as potential therapeutic agents, but reports no new clinical results.

This review discusses emerging concepts in PCOS from the AEPCOS 2010 meeting and reports no clinical findings; it suggests that the transition of care in congenital adrenal hyperplasia could inform PCOS adolescent care.

In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.

This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.

This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.

This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.

This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

This study found that co-administering glucocorticoids with 5α-reductase inhibitors exacerbated the adverse metabolic effects of glucocorticoids in healthy men.

This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.

This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.