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This study reported that patients with alopecia areata have reduced expression of the melanocortin receptor MC2R in their scalp tissues compared to normal scalp, indicating potential involvement in the condition's pathophysiology.

This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.

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 found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.

This study suggests that the TNF-α system may contribute to hyperandrogenism, obesity, and insulin resistance in polycystic ovarian syndrome, independent of the C850T polymorphism.

This study found that specific SNPs in the CXCL1 and CXCL2 genes may be associated with increased susceptibility to alopecia areata in the Korean population.

In this study, researchers found that the rs3118470 mutation in the IL2RA gene significantly increases the risk of developing alopecia areata, and they emphasize the need for future research with larger, more diverse populations to validate these results.

In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.

In this study, researchers found that specific SNPs in the MTR gene are significantly associated with wool production and quality traits in Chinese Merino sheep, suggesting the gene's potential for sheep breeding.

This study found that serum androgen levels in premenopausal women may be influenced by genetic variants of the androgen receptor and estrogen receptor β genes.

This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.

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.

In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.

This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.

This study found that patients with androgenetic alopecia had higher serum homocysteine levels, linked to the mutant MTHFR genotype, and an increased risk of coronary heart disease.

This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.

This study found no significant association between the MMP-1 gene polymorphisms rs1799750 and androgenetic alopecia in the sample population.

This review summarizes how common polymorphisms in androgen and estrogen receptor genes may influence aging-related symptoms and diseases in men, but it reports no new clinical results.

This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.

This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.

This study found that VDR polymorphisms, particularly ApaI and FokI variants, are associated with hormonal and metabolic disturbances in women with PCOS, with notable variations across different ethnicities.

In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

This study found that the MTHFR gene C677T mutation appears to be a susceptibility factor for alopecia areata in the Turkish population.

In this study, TLR1 gene polymorphism rs4833095 was significantly associated with increased susceptibility to alopecia areata in the Korean population.

This review discusses the association between androgen receptor CAG repeat polymorphism and several health conditions, including Kennedy’s disease and urologic disorders, without reporting new clinical results.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.