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This study found that ESR1 gene polymorphisms may be linked to hormonal imbalances in young women with hyperandrogenism, potentially affecting bone mineral density indirectly.

This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.

In this study, significant associations were observed between specific genetic polymorphisms in BDNF and CRH-R1 and the occurrence of vitiligo, along with differing serum levels of neurotransmitters between vitiligo patients and healthy controls.

In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.

In this study, mice lacking the Mcpip1 gene in their myeloid cells did not develop SCC-like tumors but instead showed increased melanocyte activity and hair loss, indicating a distinct role for myeloid Mcpip1 in skin cancer development compared to keratinocyte Mcpip1.

In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.

In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.

In this study, the ACE1 rs1799752 polymorphism was not found to predispose COVID-19 survivors to long-COVID symptoms, supporting previous findings that ACE2 and TMPRSS2 variants also do not influence post-COVID conditions.

In this study, researchers found that most patients with frontal fibrosing alopecia lacked the protective rs1800440 polymorphism in the CYP1B1 gene, suggesting its potential role in the development of this condition, while a significant number carried the rs9258883 polymorphism in HLA-B*07:02.

This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.

This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.

This study found that among COVID-19 patients, a higher presence of the G allele in the IFITM3 rs12252 polymorphism correlates with increased inflammatory markers and disease severity, noting higher ESR, CRP, Fibrinogen, LDH, and D-dimer levels in severe cases compared to mild ones.

This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.

This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.

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.

In a mouse model study, researchers observed that the absence of MCPIP1 in myeloid cells decreased susceptibility to chemically induced skin papillomas but caused significant hair loss and skin pigmentation changes, suggesting a role for MCPIP1 in skin carcinogenesis and follicle integrity.

This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.

This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.

In this study, women with the GG polymorphism of the MMP1 gene promoter were found to have a higher likelihood of being diagnosed with polycystic ovary syndrome.

In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.

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.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This study found that the ABCG2 (Q191K) polymorphism increases the risk of hyperuricemia and hypercholesterolemia specifically in young Mexican males.

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 review investigates the relationship between certain gene polymorphisms associated with obesity (FTO and MC4R) and Polycystic Ovarian Syndrome, reporting no new results but suggesting a potential genetic link.

This study found that genetic polymorphisms of OCT1 influence the effectiveness of metformin treatment in improving insulin sensitivity among PCOS patients, suggesting a role for personalized treatment strategies.

This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.

This study found that SNPs in the MVK, ARPC1B, and CA2 genes may indicate a genetic predisposition for severe acne related to steroidogenesis.

This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.

The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.