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.
33 citations
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April 2020 in “Journal of Clinical Investigation” This study found that hair follicle stem cells from hidradenitis suppurativa patients showed alterations in cell cycle regulation and DNA replication, potentially linking genetic predisposition to the skin inflammation characteristic of the disease.
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
,
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.
5 citations
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February 2022 in “Seminars in cell & developmental biology” This review discusses the complexities of hidradenitis suppurativa pathogenesis, highlighting issues with Notch signaling, immune dysregulation, and the role of keratinocytes and ECM, but reports no new clinical results.
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.
January 1963 in “Stain technology” This study describes a staining technique that differentiates medullary from cortical keratin in sheep and goat hair using Ziehl-Neelsen's carbol-fuchsin in skin biopsy sections.
1 citations
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January 2020 This study found that Ift20 is essential for hair follicle stem cell identity and hair regrowth, and it regulates keratinocyte migration during wound healing through focal adhesion integrin recycling, independently of ciliogenesis.
22 citations
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January 1990 20 citations
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January 2017 in “Experimental Dermatology” In this study, deleting the Igf1 receptor in specific skin cells of mice affected hair follicle cycling but not overall skin health, suggesting Igf1r's role in hair cycle regulation through Bmp-4 activation.
1 citations
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November 2022 in “International journal of trichology” This case report describes a 6-year-old girl with IFAP syndrome who showed good improvement in cutaneous symptoms after one month of acitretin treatment.
2 citations
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March 2011 in “International Journal of Dermatology” This case report describes an 18-year-old male with IFAP syndrome, confirmed by total hair loss, severe photophobia, and characteristic skin changes, marking a rare presentation of the condition.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
74 citations
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May 2016 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” This review identifies shared interferon gamma-driven immune pathways in vitiligo and alopecia areata, revealing potential targets for new treatments, but reports no clinical results.
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.
38 citations
,
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.
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.
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.
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.
22 citations
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March 2012 in “Molecular Medicine Reports” This study found that DHT treatment led to reduced cell growth, increased cell death, cell cycle arrest, ROS production, and senescence in normal human dermal papilla cells, potentially mediated by altered miRNA expression.
10 citations
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November 2024 in “Nature Reviews Cardiology” Skin conditions can signal heart issues, highlighting the need for integrated care.
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.
6 citations
,
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.
4 citations
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November 2016 in “Pediatric Clinics of North America” This article discusses the diagnostic and therapeutic approach for immune-mediated central nervous system diseases but reports no new clinical findings.
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.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
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.