7 citations
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January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
April 2023 in “Journal of Investigative Dermatology” In this study, a mouse model of scarring alopecia demonstrated significantly reduced CD200R expression in affected skin, which may contribute to immune attacks on hair follicles.
March 2025 in “Archives of Dermatological Research” miR-155-5p can help diagnose and track alopecia areata severity.
29 citations
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June 2016 in “Experimental Dermatology” This study provides suggestive evidence that duplications in the MCHR2 gene may be involved in the pathogenesis of alopecia areata.
62 citations
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January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
April 2023 in “Journal of Investigative Dermatology” This research explored the roles of various T cell types in chronic alopecia areata, finding that increased severity of lesions and hair loss may be linked to decreased lesional Foxp3+ Tregs, with a notable role for IL-17 and Th17 lymphocytes in the pathological process.
September 2025 in “Diseases” This study found that patients with patchy alopecia areata had significantly higher serum levels of pro-inflammatory cytokines IL-6, TNF-α, IL-17A, and IL-21 compared to healthy controls, with these levels correlating positively with disease severity, age, and disease duration.
88 citations
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March 2004 in “Journal of Investigative Dermatology” 71 citations
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May 2019 in “Rheumatology” This study observed that PD-1+CXCR5-CD4+T peripheral helper cells are significantly elevated in patients with systemic lupus erythematosus and are correlated with disease activity indicators, suggesting their potential role in lupus pathogenesis.
January 2014 in “Journal of Jilin University” This study found that Th22 cells and their cytokine IL-22 may play an important role in the pathogenesis of systemic lupus erythematosus and could serve as bioindicators for monitoring disease severity.
10 citations
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January 2020 in “Advances in Dermatology and Allergology” This study suggests that the gene rs27647 polymorphism may play a role in the pathogenesis of severe acne vulgaris in post-adolescent male patients.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
245 citations
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October 2015 in “Nature medicine” The research found that hair follicle–derived cytokines, particularly IL-15 and IL-7, regulate skin-resident memory T cells and their role in both immune homeostasis and lymphoma in the skin.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
23 citations
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October 1996 in “Dermatologic clinics” This review discusses genomic and postgenomic alterations in chronic degenerative diseases and potential modulation by dietary and pharmacological agents, reporting no new clinical results.
January 2021 in “Benha Journal of Applied Sciences” This study found no significant difference in serum prolactin levels between vitiligo patients and healthy controls, nor any significant association between prolactin gene polymorphism and vitiligo severity, except for a significant relation with BMI.
July 2024 in “Journal of Investigative Dermatology” The Fas/FasL pathway may play a role in alopecia areata.
12 citations
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March 2016 in “BBA clinical” This study found that intracellular Toll-like receptors were significantly up-regulated in peripheral blood mononuclear cells of alopecia areata patients, suggesting a potential role in inflammatory signaling and pathogenesis.
7 citations
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May 2021 in “EBioMedicine” This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
1 citations
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May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
2 citations
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January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” 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.
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.
60 citations
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January 2007 in “Human Genetics” In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.
2 citations
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September 2022 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.
September 2024 in “Archives of Medical Science” Alopecia areata is linked to immune system differences, with specific biomarkers like CXCL9 and CXCL10 being key for diagnosis and potential treatment targets.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
July 2024 in “Journal of Investigative Dermatology” IL-13 protein is much higher in the skin of atopic dermatitis patients than in healthy skin.