9 citations
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March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
March 2021 in “Medico-Legal Update” 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.
April 2017 in “Journal of Investigative Dermatology” 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.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
5 citations
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March 2021 in “F1000Research” This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.
November 2025 in “Molecular and Cellular Biomedical Sciences” This study found no significant association between the MMP-1 gene polymorphisms rs1799750 and androgenetic alopecia in the sample population.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
8 citations
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May 2005 in “Fertility and Sterility” 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.
2 citations
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July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.
January 2017 in “Murdoch Research Repository (Murdoch University)” This study identified the novel genetic variant rs143321413 within the EEF2K gene, which may play a role in the development of polycystic ovary syndrome.
This study reported the genotypic and allelic frequencies of seven SNPs associated with androgenetic alopecia in Mexican individuals, highlighting significant differences in one SNP between cases and controls in Western Mexico.
November 2022 in “Scientific Reports” This study found that ESR1 gene polymorphisms may be linked to hormonal imbalances in young women with hyperandrogenism, potentially affecting bone mineral density indirectly.
July 2024 in “Indian Journal of Dermatology Venereology and Leprology” This study found that specific PITX2 gene variants are significantly associated with higher risk of androgenetic alopecia in males, highlighting important genetic and environmental interactions influencing its development.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” 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.
41 citations
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October 2011 in “Clinical and Experimental Dermatology” This meta-analysis suggests that the G allele of AR StuI polymorphism might be a potential risk factor for AGA, particularly in white populations.
January 2024 in “Biomarker Insights” This study found significant associations between PCOS susceptibility and specific genetic variants in the APOA5 and PLIN1 genes among Western Saudi women, identifying novel alleles and genotypes that may influence PCOS risk and related clinical characteristics.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
6 citations
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May 2012 in “Archives of Dermatological Research” 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.
11 citations
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March 2013 in “Gene” This study reported that the IL1A 4-bp indel polymorphism is associated with a reduced risk of alopecia areata in Chinese populations, possibly through miR-122 mediated regulation of IL-1α expression.
October 2021 in “Postepy Dermatologii I Alergologii” In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.
12 citations
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January 2018 in “Journal of Clinical Laboratory Analysis” This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.
12 citations
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June 2016 in “Clinical and experimental dermatology” This study reported a previously undescribed G573V point mutation in the TRPV3 gene as a cause of familial Olmsted syndrome in a Mongolian family.
5 citations
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May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
March 2018 in “Suez Canal University Medical Journal” In this study, NKG2D polymorphism was not linked to increased susceptibility to systemic lupus erythematosus among Egyptian patients living in the Suez Canal area.
6 citations
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February 2013 in “Medical Oncology” In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.
This study found that the AMHR2-482A>G gene polymorphism is associated with an increased likelihood of polycystic ovary syndrome and altered hormone levels in affected women.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
August 2014 in “Acta Crystallographica” This study found that the dissolution profiles of different finasteride polymorphs may affect the quality of finasteride capsules, highlighting the need for polymorphic quality control.
2 citations
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September 2021 in “F1000Research” This study found that the ABCG2 (Q191K) polymorphism increases the risk of hyperuricemia and hypercholesterolemia specifically in young Mexican males.