19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
1 citations
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September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported that WNT10A gene variants are linked to short anagen hair syndrome, which suggests a potential genetic factor contributing to this hair condition.
72 citations
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November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is important for periodontal ligament homeostasis under occlusal hypofunction conditions.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
16 citations
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March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
This study observed that the development of the pars intermedia in long-tailed macaques is closely associated with changes in skin pigmentation during pre- and postnatal periods through melanocyte-stimulating hormone and ACTH activity.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
July 1995 in “Journal of Dermatological Science”
1 citations
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April 2017 in “Journal of Investigative Dermatology” This study found that the novel IPC analog SIG-1451 may inhibit inflammatory cytokine release in cell-based assays relevant to allergic dermatitis.
January 2026 in “Figshare” This study found that the loss of ASLNC168501 accelerates hair follicle stem cell dysfunction in androgenetic alopecia through activation of the AR/miR-128-3p/IGF-1 pathway, suggesting that restoring ASLNC168501 could be a promising therapeutic strategy for hair regeneration.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
9 citations
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June 2016 in “Stem cells” In this study, overexpression of secretory phospholipase A2 Group-IIA in transgenic mice led to depletion of hair follicle stem cells and increased differentiation, linked to changes in histone modifications.
33 citations
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September 2017 in “Journal of clinical immunology” This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
25 citations
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March 2017 in “Archives of Dermatological Research” This study suggests that sinapic acid may promote hair growth in human hair follicle dermal papilla cells by activating specific signaling pathways and inducing the expression of growth factors.
28 citations
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July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
90 citations
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May 2018 in “Molecular Cell” Caspase-3 helps control cell growth and organ size by activating YAP.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
69 citations
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January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
37 citations
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August 1999 in “Journal of Investigative Dermatology” This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
April 2025 in “Molecular Biology Reports” In this study, researchers found that DNMT1-mediated methylation of SRD5A2 in urethral epithelial cells from hypospadias-afflicted rats upregulates proteins associated with cell cycle and mitochondrial function, suggesting SRD5A2 as a potential therapeutic target for hypospadias due to its role in modulating cellular functions.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
January 2026 in “Biomaterials” 11 citations
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February 2018 in “Oncotarget” This study observed that reduced activation of SMAD2/3 proteins in cutaneous squamous cell carcinoma tissue compared to adjacent tissue may indicate a tumor suppressor role in disease progression.
December 2025 in “The Journal of Cell Biology” This study found that keratin 15 lacks the ability to sequester YAP1 in keratinocytes effectively, unlike keratin 14, and suggests that a higher K15:K14 ratio may promote a progenitor state and inhibit differentiation in epidermal keratinocytes.
3 citations
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September 2025 in “Plant Signaling & Behavior” This study observed that extracellular ATP (eATP) levels outside Arabidopsis root cells vary inversely with the expression of AtAPY1 and AtAPY2 apyrases, suggesting these enzymes regulate eATP concentrations crucial for root growth.
11 citations
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April 2020 in “Life sciences” In this study, pantothenic acid at 20 μg/ml was observed to promote dermal papilla cell proliferation and migration, likely through up-regulation of ID3 and inhibition of Notch signaling.
22 citations
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January 2009 in “Advances in experimental medicine and biology” This review discusses the human Nude/SCID phenotype and FOXN1 gene's role in immunological disorders affecting T-cell development but reports no new clinical findings.