2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
In a human genetic study on hidradenitis suppurativa, researchers identified 12 genetic risk loci and found that CXCR4-CD74 signaling may play a key role in hair follicle inflammation, suggesting CXCR4 blockade as a potential therapeutic approach for this condition.
6 citations
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June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
27 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified somatostatin as a potential secretory factor contributing to the immune privilege of human hair follicles.
19 citations
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August 2018 in “JAMA dermatology” This study found that skin mesenchymal stem cells from hidradenitis suppurativa patients overexpress proinflammatory and anti-inflammatory cytokines, suggesting their potential contribution to the disease's pathogenesis.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
April 2017 in “Journal of Investigative Dermatology” In this study, HPH-15, a newly synthesized compound, demonstrated potential in reducing skin fibrosis in a mouse model by targeting underlying pathogenic mechanisms and exhibited a good safety profile, warranting further clinical trials for fibrotic skin disorders like systemic sclerosis.
39 citations
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January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
12 citations
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May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
April 2023 in “Journal of Investigative Dermatology” This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.
112 citations
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January 2013 in “Experimental dermatology” This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.
33 citations
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December 1999 in “Journal of Investigative Dermatology Symposium Proceedings” 13 citations
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September 2022 in “Biomolecules” This study found that specific gene upregulations and mutations in hidradenitis suppurativa skin support the role of inflammation, altered epithelial differentiation, and metabolism dysregulation in the disease's pathogenesis.
2 citations
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January 2009 in “Human cell culture” 8 citations
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October 2012 in “Transgenic Research” This study found that transgenic mice overexpressing human H-ferritin showed mild growth retardation and a temporary hairless phenotype, highlighting H-ferritin's physiological roles.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
142 citations
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August 2015 in “Arthritis & Rheumatology” This study found significant heterogeneity in transcriptome patterns among SSc patients, identifying prominent fibroinflammatory and keratin signatures that may aid in stratifying patients for targeted treatment approaches.
3 citations
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September 2024 in “Experimental Dermatology” This study found elevated levels of IL-18 and free IL-18 in hidradenitis suppurativa patients compared to healthy controls, suggesting these cytokines may serve as novel biomarkers for disease activity, with correlations indicating their involvement in disease severity.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.
1 citations
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February 1991 in “Journal of Biological Chemistry”
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that hemoglobin α expression in the epidermis is induced by oxidative stress and may function as an antioxidant, contributing to skin barrier function.
26 citations
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December 1990 in “Journal of Biological Chemistry” In this study, elevated mRNA levels for serine-rich ultra high sulfur proteins were observed during active hair growth phases in mice, particularly in the forming hair structures and upper skin layers.
32 citations
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April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
8 citations
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June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
1 citations
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June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
52 citations
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October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
April 2023 in “Journal of Investigative Dermatology” This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.