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This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.

This review examines the spontaneous clearance of hepatitis C virus and factors such as IL-28B genetic polymorphism, which have been associated with this outcome, and reports no new clinical results.

This review discusses the genetic and androgen-related factors in androgenetic alopecia, highlighting a specific polymorphism in the AR protein associated with male pattern hair loss, and reports no new clinical results.

This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.

This study observed that hereditary factors were associated with acne duration but not severity, and found a potential role of CYP450 1A1 polymorphisms in acne pathogenesis.

This study found that, among fertile egg donors, the AR gene CAG polymorphism was associated with differences in antral follicle count but did not impact ovarian response to gonadotrophins.

In this study, researchers found that the NUDT15 R139C gene variant is a significant genetic risk factor for azathioprine-induced severe myelotoxicity in Japanese patients with dermatological conditions, suggesting that screening for this variant may help prevent adverse reactions in East-Asian populations.

This study reported that IGF2BP2 rs1470579 and IGFBP3 rs2854744 may increase the risk of polycystic ovary syndrome in a Southeastern Iranian population.

This study found that combining finasteride and anastrozole was more effective in preventing and treating benign prostatic hyperplasia in rats than using either drug alone.

This study suggests that women with idiopathic hirsutism have increased 5α-reductase activity, indicated by elevated levels of 3α-diol glucuronide; further research is needed to assess its clinical biomarker potential.

This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.

This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.

This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.

This literature review highlights the critical importance of early dermatological diagnosis of tuberous sclerosis, focusing on its genetic basis, dermatological markers, and the role of genetic testing and multidisciplinary support, while discussing treatment options like mTOR inhibitors and their limitations.

This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.

This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.

This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.

This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.

This review explains the genetic diversity of sheep wool keratin-associated protein genes and explores how this variation might be leveraged for selective breeding to enhance wool fiber traits.

This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.

In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.

This review highlights the evolution of forensic genetics from basic DNA analysis to complex genome-wide studies, enabling insights into personal traits, ancestry, and habits, and suggests future advancements through technologies like CRISPR and AI.

This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.

This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.

This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.

This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.

In this case study, ischemic stroke occurred in a 20-year-old male taking finasteride for hair loss, with multiple genetic predispositions for thrombosis; while causality is uncertain, clinicians should exercise caution when prescribing finasteride to patients with thrombotic risk factors.