April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that HPV8-induced actinic keratoses may mechanistically involve Lrig1+ hair follicle keratinocyte stem cells, with the E6 gene promoting downstream STAT3 activity in a mouse model.
2 citations
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December 2022 in “The Journal of Dermatology” This study found that patients with hidradenitis suppurativa had significantly higher levels of cell-free DNA in their serum compared to healthy controls, suggesting its potential as a biomarker for the disease.
April 2019 in “Journal of the Endocrine Society” This study found that androgen-regulated genes in hidradenitis suppurativa skin lesions are strongly linked to innate immunity pathways, indicating a potential connection between androgen signaling and inflammation in this condition.
14 citations
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January 2005 in “Cell Stress and Chaperones” November 2011 in “Molecular Cancer Therapeutics” This study discusses the involvement of Hedgehog signaling in various human cancers, detailing different mechanisms of pathway activation and highlighting the potential for therapeutic targeting through pathway inhibition.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
10 citations
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February 2019 in “Journal of cellular physiology” This study found that in yak hair follicles, TGF-β2 significantly contributes to the transition from growth to regression phases via inducing apoptosis, whereas HSP70 appears to inhibit follicle regression by protecting epithelial cells from apoptosis.
July 2024 in “Journal of Investigative Dermatology” Brepocitinib reduces interferon signaling in hidradenitis suppurativa patients.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
74 citations
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March 2013 in “Development” This study found that Hopx labels a long-lived progenitor population in hair follicles, which contributes to hair follicle stem cell homeostasis and has an alternative origin from previously thought progenitors.
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.
14 citations
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November 2013 in “PloS one” This study found that transgenic mice overexpressing HGF/SF are more susceptible to UVA-induced melanoma, with melanin in the papillary dermis interacting with UVA to induce melanoma.
7 citations
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February 2015 in “Journal of comparative pathology” This study observed that NSG-hu-BLT mice developed graft-versus-host disease characterized by CD8+ T lymphocyte-related cell death in the skin and liver, which may affect their utility in other research areas.
89 citations
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May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
51 citations
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March 2019 in “Experimental Dermatology” This study suggests that in hidradenitis suppurativa, MMP-induced matrix alterations may contribute to inflammation by releasing active peptides and inflammatory factors in the extracellular matrix.
January 2022 in “Research Square (Research Square)” This study found that elevated TSPEAR expression in colorectal cancer was associated with poor overall prognosis and correlated with tumor infiltrating immune cells, suggesting its potential as a predictive biomarker.
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.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
30 citations
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January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
June 1996 in “Journal of Dermatological Science”
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
126 citations
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October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
47 citations
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January 2024 in “iScience” The researchers reported that stress-induced keratins in human skin are expressed at lower levels than those in healthy skin and are co-regulated with genes involved in differentiation, inflammation, and immunity, rather than replacing keratins of normal differentiation or indicating cell proliferation.
4 citations
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January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study created a comprehensive single-cell atlas of hidradenitis suppurativa tunnels, identifying distinct microenvironmental endotypes linked to specific signaling pathways, suggesting that TNF blockade may not effectively address predominant pathways in many lesions and highlighting the potential for individualized treatment strategies.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that sebaceous gland atrophy in psoriatic lesions correlates with the down-regulation of specific lipid biosynthetic gene modules, potentially affecting hair appearance without damaging follicles.