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.
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.
In this study, human dermal papilla cells exposed to wasabi leaf extract showed changes in cytokine-related gene expression, which the authors suggest could help clarify the biological effects of wasabi.
This study examined the molecular communication in psoriasis cells, highlighting unique immune cell interactions and identifying new features of the hair follicle cell-psoriasis axis. It suggests the potential for targeted therapies at the single-cell level to improve psoriasis treatment.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
9 citations
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July 2022 in “EMBO molecular medicine” This study found that targeting IL-6, IL-1, and CCR6 signaling pathways may effectively reduce irradiation-induced alopecia and dermatitis in radiotherapy patients.
20 citations
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November 2019 in “Stem Cells” This study found that deleting the Hes1 gene disrupts hair regeneration by delaying anagen initiation and shortening the anagen phase, suggesting it's crucial for maintaining hair cycle homeostasis.
March 2024 in “GSC Advanced Research and Reviews” This study observed that exposure to different wavelengths of light affects opsin and clock gene responses in skin cells, suggesting potential therapeutic approaches using photobiomodulation for dermatological conditions like psoriasis and wound healing.
45 citations
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October 2015 in “BMC Genomics” This study identified morphotype-specific gene expression patterns in feathers, enhancing understanding of the molecular and cellular processes involved in feather development and diversification.
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.
1 citations
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June 2021 in “Journal of dermatology and dermatitis” This review explores the promising but varied effectiveness of tyrosine kinase inhibitors for treating different skin diseases, indicating their potential in dermatology while acknowledging the need for more evidence.
355 citations
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January 2017 in “Journal of the American Academy of Dermatology” This review reports no new results and highlights existing research suggesting JAK inhibitors may be effective in treating inflammatory skin conditions like alopecia areata, atopic dermatitis, psoriasis, and vitiligo.
January 2024 in “Pediatric rheumatology online journal” In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.
223 citations
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September 2018 in “Rheumatology” This review examines clinical data on the efficacy and safety of JAK inhibitors used for immune-mediated conditions beyond rheumatoid arthritis, highlighting their potential therapeutic roles in various inflammatory diseases.
116 citations
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February 2017 in “Journal of the American Academy of Dermatology” This systematic review found that Janus kinase inhibitors have shown beneficial effects for psoriasis and alopecia areata, with promising preliminary results in other skin conditions, though more research is needed to define dosing and safety profiles.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
April 2023 in “Research Square (Research Square)” This study found that lower GPX4 mRNA levels in polymorphonuclear neutrophils of systemic lupus erythematosus patients were negatively associated with disease activity and serological markers, suggesting a diagnostic value for GPX4 mRNA.
9 citations
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January 2023 in “Cellular and Molecular Life Sciences” This study found that intrauterine administration of botulinum toxin A improved endometrial environment and receptivity in a murine model of thin endometrium through mechanisms involving IGFBP3 and osteopontin.
This study found that intrinsic feedback loops are crucial for maintaining the function of human dermal papilla cells during hair growth, highlighting the importance of autocrine signaling and niche reprogramming for advancing hair follicle biology and regenerative therapies for hair loss.
2 citations
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January 2023 in “Journal of Clinical Medicine” This review discusses the links between different types of alopecia and thyroid disorders, highlighting some shared autoimmune factors, but reports no new clinical results.
4 citations
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December 2022 in “International Journal of Molecular Sciences” This review discusses the role of zinc and its transporters in skin health and disorders, providing an overview without presenting new clinical results.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
145 citations
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May 2008 in “Cancer Science” This review discusses how increased gene copy number for telomerase components may contribute to telomerase up-regulation in cancer cells, although the exact mechanisms are not fully understood.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.
6 citations
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October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.