11 citations
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September 2011 in “Biochemical journal” This study found that neurotrophin-4 regulates Cav3.2 T-current expression in D-hair neurons via TrkB receptor activation, highlighting its role in mechanosensitive function.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” This study found that the TLR3 L412F genetic variant is associated with severe viral infections, especially CMV, and immune dysfunction in a subgroup of chronic mucocutaneous candidiasis patients.
117 citations
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August 1999 in “Nature Genetics” 47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
344 citations
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May 2018 in “EMBO journal” This review discusses the regulation of the MiT-TFE family transcription factors, particularly TFEB, through phosphorylation-mediated subcellular localization and reports no new clinical results.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that engineered high-affinity soluble CD200R agonists, including ARQ-234, showed superior efficacy in reducing immune responses in various preclinical models of inflammatory conditions, suggesting potential as a therapeutic for atopic dermatitis and other related diseases.
7 citations
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January 2019 in “PeerJ” This study found that intradermal injection of Secreted Frizzled-related Protein 4 inhibits, but does not block, hair follicle regeneration in mice, suggesting potential therapeutic applications for hair follicle regeneration disorders.
16 citations
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September 2022 in “Plant Cell & Environment” This study suggests that iron influences auxin signaling through vesicle trafficking, particularly affecting PIN2 recycling, which may play a role in phosphate starvation-induced root hair growth in Arabidopsis.
40 citations
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July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
September 2025 in “Digital Commons - RU (Rockefeller University)” This study found that when NFIB was removed in adult mouse hair follicle stem cells, it did not affect their maintenance but unexpectedly led to increased proliferation and differentiation of nearby melanocyte stem cells.
7 citations
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September 2024 in “PLANT PHYSIOLOGY” This study in Arabidopsis thaliana found that exposure to volatile compounds from Penicillium aurantiogriseum promotes root hair growth through signaling involving RALF22, ethylene, auxin, and photosynthesis, and that RALF22 plays a crucial role in the plants' response to these compounds.
January 2015 in “DukeSpace (Duke University)” This study found that deleting transferrin receptor 1 in specific mouse tissues led to varied lethal outcomes, demonstrating its diverse roles beyond iron uptake.
39 citations
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December 1998 in “Journal of Cell Science” This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.
78 citations
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June 2013 in “Science” This study found that mice lacking the Sept4/ARTS gene had more hair follicle stem cells and improved wound healing, suggesting apoptosis regulation as a potential target in regenerative medicine.
32 citations
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July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.
87 citations
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September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
27 citations
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November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
130 citations
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April 2003 in “Journal of Investigative Dermatology” This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new FAK isoform, FAKΔe4, which is regulated by ECM stiffness and affects cell migration, invasion, and mechanosensing in human-derived data and engineered models.
24 citations
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July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
2 citations
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June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
32 citations
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July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
6 citations
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January 2014 in “Genetics and Molecular Research” This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.
92 citations
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May 2004 in “Journal of Investigative Dermatology” This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
March 2026 in “Journal of Investigative Dermatology”
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.