47 citations
,
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.
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.
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.
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.
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.
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.
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.
74 citations
,
January 2013 in “Journal of Investigative Dermatology” Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.
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.
59 citations
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June 2023 in “Nature Aging” This study observed that in aged mouse skin, there was an increase in IL-17-expressing T helper cells, γδ T cells, and innate lymphoid cells, and blocking IL-17 signaling reduced skin inflammation and delayed age-related changes, suggesting it as a potential target to mitigate skin aging.
36 citations
,
January 2021 in “Scientific Reports” This study identified key genes and signaling pathways involved in the growth phases of Pashmina goat hair follicles, highlighting the role of several gene families and transcription factors in fiber quality and growth regulation.
25 citations
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June 2018 in “Journal of The American Academy of Dermatology” This study identified upregulation of genes linked to fibroproliferative disorders, such as platelet-derived growth factor and collagen genes, in patients with central centrifugal cicatricial alopecia, suggesting potential therapeutic targets.
21 citations
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June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
20 citations
,
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.
14 citations
,
April 2022 in “Functional & Integrative Genomics” This study identified specific miRNAs and mRNAs involved in the development of secondary hair follicles in cashmere goats, particularly noting a targeted relationship between chi-miR-30e-5p and DLL4.
12 citations
,
August 2018 in “Journal of Dermatological Science” This study observed that adipose-derived stem cells modified with trichogenic factors have similar properties to dermal papilla cells and show enhanced hair regeneration potential compared to unmodified adipose-derived stem cells.
9 citations
,
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.
4 citations
,
February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
3 citations
,
February 2025 in “Journal of PHYSIOLOGICAL ANTHROPOLOGY” This systematic review and meta-analysis found 30 genetic loci associated with skin ageing phenotypes, noting shared biological pathways in aspects like pigmentation and wrinkling; researchers suggest further studies targeting the same SNP across populations could clarify these associations.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
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 2026 in “Frontiers in Cell and Developmental Biology” This review summarizes the role of G-protein-coupled receptors in wound healing and reports no new clinical results, highlighting their importance in signaling pathways and recent discoveries in their functions.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, periodic exposure to red light in aged mice led to increased histone acetylation and activated mitochondrial fatty acid oxidation, which collectively mitigated cellular aging by modulating metabolism, inflammation, and gene expression.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
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.
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.
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.