35 citations
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June 2012 in “PloS one” This study suggests that Keratin 15 expression in stratified epithelia may be regulated by two distinct mechanisms involving PKC/AP-1 pathway for differentiation and FOXM1 for basal cells, challenging its reliability as a sole stem cell marker.
1 citations
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January 2024 in “Microorganisms” This study suggests that the synthetic peptide SPIKENET (SPK) may protect against long-term skin alterations in mice following coronavirus infection, offering potential therapeutic intervention for similar effects in humans post-COVID-19.
April 2017 in “Journal of Investigative Dermatology” The researchers reported that iPSCs derived from Sendai virus reprogrammed blood cells can mature into functional keratinocytes for up to 60 days, potentially offering new approaches for DEB treatment.
April 2025 in “Journal of Diabetes & Metabolic Disorders” This study found that linc-PINT expression was significantly decreased in patients with atrial fibrillation compared to healthy controls, while several TGF-β signaling genes were increased, suggesting a potential role in heart arrhythmias' pathogenesis.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
28 citations
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December 2018 in “Plant, cell & environment/Plant, cell and environment” This study found that the PLC2 gene plays a critical role in auxin-mediated root development in Arabidopsis, influencing root growth and PIN2 distribution.
14 citations
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November 1987 in “Journal of The American Academy of Dermatology” A woman developed a severe skin reaction called toxic epidermal necrolysis after taking the antibiotic cephalexin.
28 citations
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October 2014 in “Development” This study revealed that frizzled 3 can fully rescue polarity defects in frizzled 6-null mice, while frizzled 6 can partially rescue defects in frizzled 3-null mice, highlighting conserved signaling roles in these proteins.
16 citations
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March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
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.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
4 citations
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April 2022 in “Microorganisms” In this study, clinically used preoperative skin preparations with povidone iodine and chlorhexidine gluconate did not meet FDA log-reduction standards for bacterial bioburden in a porcine model, suggesting persistent infection risks.
38 citations
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June 2018 in “Plant & cell physiology/Plant and cell physiology” This study found that overexpressing PLC5 in Arabidopsis thaliana reduced root growth but improved drought tolerance, and suggests PIP2 is crucial for root hair growth.
26 citations
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January 2016 in “Annals of Dermatology” This study found that Ecklonia cava polyphenols increased human dermal papilla cell proliferation and extended hair shaft length in vitro and ex vivo, suggesting potential as a therapeutic candidate for hair loss.
65 citations
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July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.
8 citations
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August 2018 in “Journal of Investigative Dermatology” 16 citations
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April 2021 in “Plant Signaling & Behavior” This study found that in Arabidopsis, the MYB30-EIN3 module plays a role in adapting root hair development to phosphate deficiency, potentially enhancing phosphate uptake from soil.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
73 citations
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November 2000 in “Proceedings of the National Academy of Sciences of the United States of America” This study demonstrated that anagen can be induced in Stat3-disrupted mice, suggesting that both Stat3-dependent and independent pathways, possibly involving PKC, mediate hair cycle progression with required PI3K activation.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
This study identified 193 plasma proteins associated with prostate cancer risk, validating 20 high-risk proteins including KLK3, and pinpointed potential drug targets like HSPB1, RRM2B, and PSCA through genetic analysis, offering new insights for biomarkers and treatments.
6 citations
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January 2024 in “Annals of Dermatology” In this study, treatment with recombinant DKK2 was shown to significantly stimulate hair progenitor cell growth and enhance hair shaft elongation in ex vivo human hair follicle cultures by activating the Wnt/ẞ-catenin signaling pathway, suggesting a potential role for DKK2 in promoting hair growth.
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.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.