6 citations
,
June 2021 in “Developmental biology” This study found that dermal EZH2 plays a crucial role in controlling fibroblast differentiation by regulating Wnt/β-catenin and retinoic acid signaling during skin development.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
5 citations
,
June 2008 in “British Journal of Dermatology” 2 citations
,
December 2024 in “eLife” This study observed that individuals with Down syndrome exhibit early immune dysregulation, including multi-organ autoimmunity and hypercytokinemia, and found that the JAK inhibitor tofacitinib showed a good safety profile and reduced skin pathology in a Phase II trial.
31 citations
,
November 2015 in “PloS one” In this study, modulating Tyrosinase expression altered mouse coat color by affecting melanosome accumulation, indicating that melanosome maturity plays a role in determining skin and hair color beyond total melanin content.
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that TLR2 is crucial for maintaining hair follicle health and regeneration, and its stimulation by the metabolite CEP may promote hair growth, while decreases in TLR2 and CEP in aging and obesity may hinder hair growth.
98 citations
,
March 2019 in “Frontiers in immunology” This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the deletion of Tet2/3 enzymes in mice led to changes in skin development and hair follicle differentiation, ultimately causing hair loss and altered gene expression.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
This study found that IL18 signaling plays a crucial role in the homing and retention of mature regulatory T cells in the mouse thymus, primarily by upregulating the chemokine receptor CCR6.
125 citations
,
February 2007 in “The EMBO Journal” Fgfr2b helps maintain healthy skin and prevent cancer.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
26 citations
,
February 1998 in “DNA and Cell Biology” This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.
January 2025 in “Scholarly Commons (University of Pennsylvania)” This study found that the X-linked gene UTX is crucial for regulating skin differentiation and inflammation in females by affecting retinoic acid signaling, also highlighting potential links to sex disparities in skin diseases.
44 citations
,
November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
43 citations
,
January 2016 in “Development” This study identified a critical NF-κB-LHX2-TGFβ2 signaling pathway essential for primary hair follicle development in mice, revealing new insights into the underlying mechanisms of morphogenesis.
6 citations
,
January 2010 in “Journal of Biochemical and Molecular Toxicology” This study found that the ID2 gene was highly expressed in bulge-derived keratinocytes when exposed to contact sensitizers and may serve as a marker to distinguish sensitizers from irritants during in vitro testing.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
January 2008 in “Memorial University Research Repository (Memorial University)” This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.
23 citations
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January 2018 in “Biological and Pharmaceutical Bulletin” In this study, YK11 was found to promote osteoblast cell proliferation and differentiation through activation of non-genomic signaling pathways in mouse osteoblast cells.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.
46 citations
,
June 2013 in “Journal of structural biology” This study suggests that the mechanical robustness of hair may be enhanced by the binding interactions of keratin-associated proteins, particularly KAP8.1, with intermediate filament proteins.
13 citations
,
July 1994 in “PubMed” This study found that TPA treatment induced expression of keratins K6 and K16 in mouse epidermis, with K6 expressed across all cell layers and K16 only in post-mitotic cells.
11 citations
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November 2015 in “Carcinogenesis” In this study, researchers found that deleting TNFα in PKCε transgenic mice reduced the development of cutaneous squamous cell carcinomas induced by UV radiation or a chemical protocol.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study demonstrated that both DKK2 and SOSTDC1 are necessary for normal timing of the first catagen phase in mice hair growth cycles.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that dermal EZH2 plays a crucial role in coordinating dermal fibroblast differentiation and epidermal development by modulating Wnt/β-catenin and retinoic acid signaling.