28 citations
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April 2009 in “Annals of laboratory medicine” This study found that the DFS pattern occurs in about 28% of ANA-positive cases and is relatively frequent in autoimmune diseases, contrary to previous observations suggesting no link with these diseases.
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.
November 2025 in “animal” In this study, researchers analyzed 24 European Merino sheep populations to investigate genetic adaptations to climate, identifying 168 significant SNPs and related genes associated with temperature variation and environmental adaptation, focusing on traits like isothermality and pathways related to immune response and system development.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
January 2025 in “Nutrients” In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.
253 citations
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March 2006 in “The Journal of Clinical Endocrinology and Metabolism” This review discusses the hypothesis that polycystic ovary syndrome may originate in fetal life due to prenatal androgen exposure, but reports no new clinical results.
134 citations
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February 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
87 citations
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March 2011 in “Australasian Journal of Dermatology” This review explores the current understanding of genetic and hormonal influences on male androgenetic alopecia and female pattern hair loss, providing guidance for clinicians but reports no new results.
77 citations
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April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
38 citations
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February 2012 in “British Journal of Dermatology” This study suggests that the AR/EDA2R locus may contribute to early-onset female pattern hair loss, but no association was found with the 20p11 locus.
29 citations
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January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
29 citations
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July 2012 in “The Journal of Sexual Medicine” In this study using a rat model, discontinuing dutasteride improved some relaxant responses but did not fully restore erectile function, indicating a potential time-dependent detriment of the drug.
25 citations
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July 2013 in “Journal of Dermatological Science” This study suggests that the androgen receptor locus on the X chromosome may play a role in the pathogenesis of early-onset female pattern hair loss.
25 citations
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March 2012 in “Journal of Dermatological Science” This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.
16 citations
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April 2018 in “Animal Genetics” This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
16 citations
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March 2015 in “Wiener Klinische Wochenschrift” Vitamin D deficiency is common in women with PCOS and linked to some metabolic problems, but not the main cause of their metabolic issues.
15 citations
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December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
15 citations
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November 2015 in “Trends in biotechnology” This article discusses strategies for changing hair color by regulating target genes in hair follicles using advanced delivery systems, but it reports no new experimental findings.
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.
14 citations
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October 2016 in “Physiological Research” In this study, vitamin D supplementation showed no significant effect on androgen levels or clinical hyperandrogenism in PCOS women, but when combined with metformin, it improved testosterone levels.
13 citations
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March 2019 in “Physiological Research” This study found that among women with polycystic ovary syndrome, higher levels of the hormones estrone and free testosterone were associated with an increased cardiometabolic risk, especially in those who were overweight or obese.
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
12 citations
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August 2019 in “BMC Medical Genetics” This study found that two MC4R gene polymorphisms are associated with higher BMI in women with PCOS in western Saudi Arabia, but are not linked to PCOS itself.
11 citations
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April 2019 in “International Journal of Molecular Sciences” 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.
10 citations
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February 2017 in “Hormone Molecular Biology and Clinical Investigation” This randomized clinical trial found that vitamin D supplementation did not significantly alter anthropometric or metabolic parameters in obese, insulin-resistant, and vitamin D-deficient women with polycystic ovary syndrome, whereas metformin effectively reduced body weight, BMI, waist circumference, total body fat, and serum glucose levels.
8 citations
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January 2022 in “Infectious diseases News Opinions Training” This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.
7 citations
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July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
7 citations
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June 2020 in “Journal of The European Academy of Dermatology and Venereology” This article discusses the role of Minoxidil Sulfotransferase Enzyme (SULT1A1) genetic variants in predicting the response to oral minoxidil for treating female pattern hair loss, without presenting new research findings.