January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
This study identified 19 genetic risk loci and 16 potential causal genes related to PCOS, highlighting the role of immune cell-specific mechanisms in its pathogenesis.
4 citations
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November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
June 2020 in “Journal of Investigative Dermatology” This symposium reviewed advances in understanding complex skin diseases through genetics and genomics, emphasizing the role of regulatory signals and environmental components in disease development, but reports no new clinical findings.
58 citations
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June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
This study identified four genes related to alopecia areata: GIMAP6 and ALOX15 as risk factors, and GALNT6 and HEG1 as protective factors, noting significant validation differences in GALNT6 and HEG1.
12 citations
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February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
December 2025 in “BMC Medical Genomics” This study demonstrated that RNA-seq can effectively expand hair follicle transcriptomic profiling in a multi-center study, offering deeper insights than blood transcriptomics alone.
November 2025 in “Frontiers in Immunology” In this study, researchers found significant links between specific metabolic reprogramming-related genes and alopecia areata risk, highlighting increased SQSTM1 expression in affected hair follicles compared to healthy ones.
February 2025 in “Clinical Cosmetic and Investigational Dermatology” This study used Mendelian randomization analysis to find a significant causal relationship between high fasting insulin levels and androgenetic alopecia, while identifying potential core genes and metabolic pathways that could mediate this link.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential of ZDHHC17 methylation as a biomarker or therapeutic target in addressing skin aging, offering new insights into its molecular mechanisms.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
115 citations
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March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
106 citations
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March 2013 in “Nature Communications” 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.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
64 citations
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March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
58 citations
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December 2020 in “Mayo Clinic Proceedings” This paper discusses the variability in COVID-19 susceptibility and severity, emphasizing factors like biological differences and suggesting potential precision medicine approaches, but it reports no new clinical results.
57 citations
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November 2017 in “Nature Communications” This genome-wide association study identified 71 genetic loci linked to male pattern baldness, with 30 novel loci, explaining 38% of the risk and suggesting shared pathways with lifespan and cancer traits.
43 citations
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November 2018 in “Nature Communications” This genome-wide association study identified 20 genetic signals at 15 risk loci related to severe acne, revealing new insights into its genetic predisposition, particularly affecting skin structure and maintenance.
13 citations
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December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
7 citations
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March 2013 in “British Journal of Dermatology” No genetic link between prostaglandins and hair loss found.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
4 citations
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April 2021 in “Experimental and Molecular Medicine” This review examines host factors like ACE2 and TMPRSS2 in SARS-CoV-2 infection, exploring how genetic variants and advanced cellular analyses might clarify COVID-19's severity and heterogeneity; it reports no new results.
3 citations
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April 2025 in “Nature Communications” This study concluded that the GIANT brain atlas, which integrates genetic and neuroanatomical variations, provides a more accurate representation of brain structure than traditional neuroanatomical atlases, allowing for better exploration of genetic influences on the brain.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
March 2026 in “Nature Communications” In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.
August 2025 in “Scientific Reports” This study found that the protein C4BPA may link insulin resistance and acne vulgaris by influencing lipid metabolism and inflammatory pathways, suggesting it as a potential mediator in the pathogenesis of both conditions.
359 citations
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September 2017 in “European Journal of Epidemiology” This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.
336 citations
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August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
39 citations
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April 2020 in “IntechOpen eBooks” The authors describe drug repurposing as a promising strategy for finding new uses for existing drugs, noting it is efficient, cost-effective, and poses lower risks than traditional drug discovery processes, potentially aiding in the treatment of rare and difficult-to-treat diseases.