1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
March 2025 in “European Journal of Medical Genetics” This case report suggests that tofacitinib may effectively manage symptoms of AGS7 in a patient with an IFIH1 mutation, though further studies are needed to confirm its long-term safety and efficacy.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
13 citations
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October 2019 in “Journal of lasers in medical sciences” This study found that the cytokine-mediated signaling pathway is the primary pathway disrupted in skin after CO2 laser surgery.
July 2024 in “Journal of Investigative Dermatology” Brepocitinib reduces interferon signaling in hidradenitis suppurativa patients.
April 2024 in “European Journal of Dermatology” This study suggests that the PPP2R3C gene may confer susceptibility to psoriatic arthritis and psoriasis vulgaris in Chinese patients, with additional possible associations involving IL-23R, ERN1, IFIH1, and KIF3A genes.
38 citations
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September 2021 in “Signal Transduction and Targeted Therapy” This review discusses genetic factors contributing to susceptibility and outcomes in COVID-19, including ACE, ACE2, TMPRSS2 variants, HLA genotype, and ABO blood group, but reports no new experimental results.
24 citations
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
9 citations
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August 2024 in “Tissue Engineering and Regenerative Medicine” In this study, researchers suggest that strategic early intervention during fetal wound healing could lead to significantly improved long-term skin regeneration outcomes.
October 2022 in “Research Square (Research Square)” This study found that type I interferon response-related genes activated by RIG-1 and IL-17 pathways were significantly up-regulated in hair follicle and skin samples with chronic discoidal lupus erythematosus.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” This study highlights how combining genetic and environmental risk assessments could advance early screening and personalized prevention for vitiligo, given its genetic complexity and environmental interactions.
December 2022 in “Research Square (Research Square)” In this study, type I interferon response-related genes activated by RIG-1 and IL-17 signaling pathways were significantly up-regulated in both hair follicles and skin tissues affected by chronic discoidal lupus erythematosus.
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.
2 citations
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October 2021 in “JID innovations” This study found no significant gene expression differences in the lesional scalp of patients with central centrifugal cicatricial alopecia with and without a history of uterine leiomyomas.
22 citations
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June 2012 in “PLOS ONE” In this study, researchers found that impaired cholesterol biosynthesis in hair follicles may trigger an inflammatory immune response linked to primary cicatricial alopecia, providing new insights into the disorder's pathogenesis.
14 citations
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September 2018 in “Biochemical and Biophysical Research Communications” This study suggests that co-culturing human outer root sheath cells with human dermal papilla cells can restore their ability to induce hair growth by altering gene expression through paracrine signaling.
9 citations
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June 2023 in “Human Genomics” This study found that higher levels of AR expression are linked to a decreased risk of severe COVID-19 in females, and identified ACE2, MX1, and TMPRSS2 as important molecular markers for COVID-19 management.
17 citations
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July 2019 in “Lupus Science & Medicine” In this study, gene expression analysis of plucked hair follicles from scalp lesions was sufficient to differentiate chronic discoid lupus erythematosus from psoriasis and healthy controls, suggesting a non-invasive diagnostic potential.
April 2024 in “Pigment cell & melanoma research” This study explored the diversity of melanocyte stem cell subpopulations in the hair follicles of adult female mice and identified novel groups with distinct immune privilege regulation, suggesting a heterogeneous landscape that future research should consider.
6 citations
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July 2018 in “Scientific Reports” In this study, gene expression changes in rat whisker follicles after methamphetamine administration may serve as indicators of the drug's rewarding effects and potential addiction pathways.
47 citations
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June 2019 in “Nature Communications” This study found that self-noncoding dsRNA activates TLR3 to stimulate intrinsic retinoic acid synthesis, promoting new hair follicle formation in wounded mice and showing similar gene expression changes in humans treated with rejuvenation lasers.
November 2025 in “FEBS Open Bio” In this study, the researchers using Shh-GFP+/- mice found that cyclophosphamide-induced alopecia involves the JAK/STAT1 pathway, where STAT1 binds the Shh gene promoter, decreasing Shh-expressing cells in hair follicles. Treatment with JAK inhibitors helped rescue hair loss, implicating the JAK/STAT1 pathway in this process.
April 2026 in “Research Square” This study found that dapagliflozin enhanced mitochondrial quality control and adaptive autophagy in human cardiomyocytes under hypoxic stress, suggesting that these mechanisms may contribute to the cardioprotective effects of sodium-glucose cotransporter 2 inhibitors in ischemic injury.
32 citations
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December 2018 in “Cytokine” This review discusses the involvement of type I interferons in skin autoimmune and inflammatory diseases but reports no new clinical results.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This research examined the transcriptional landscape of quiescent melanocyte stem cells (qMcSCs) in adult female mice, revealing significant heterogeneity within this cell population and identifying novel subpopulations that vary in immune privilege regulation, melanocyte differentiation potential, and neural crest potential.
This study found that γδ T cells play a role in regulating stromal behavior, influencing the composition and vascularity of fibrotic tissues during the foreign body response.
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
1 citations
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January 2025 in “Advances in Wound Care” This study identified dual epithelial and mesenchymal traits in dermal sheath cells during wound repair, suggesting they could be targeted to enhance healing.
2 citations
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September 2022 in “Bioscientia medicina” This literature review highlights the effectiveness of topical vitamin D (e.g., calcipotriol, calcitriol) in treating vitiligo, emphasizing its role in melanogenesis and as an immunomodulator, either alone or combined with topical corticosteroids, offering minimal side effects.