184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
This study found that GPC1 is a key regulator of angiogenesis in human dermal microvascular endothelial cells, influenced by factors secreted by keratinocytes, and may be a target for alopecia treatment research.
3 citations
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June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
September 2019 in “Journal of Investigative Dermatology” This study observed that PCE-DP may improve skin pigmentation by increasing epidermal turnover and inhibiting melanin uptake and inflammation in human epidermal keratinocytes.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
December 2022 in “Biochemical and Biophysical Research Communications” This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
26 citations
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December 2020 in “Nature metabolism” Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
6 citations
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June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
2 citations
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February 2025 This study demonstrates that an iPSC-derived skin organoid model effectively supports Merkel cell polyomavirus infection, persistence, and immune evasion, providing a valuable platform for studying viral tumorigenesis and testing treatment strategies.
175 citations
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September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
3 citations
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July 2021 in “Life science alliance” This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.
82 citations
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December 2011 in “Journal of Biological Chemistry” This study discovered that a network controlled by the gene p63 is crucial for keratinocyte differentiation and is linked to MYC through cell adhesion-related pathways.
September 2024 in “Genes” This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
March 1998 in “Journal of dermatological science” Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
2 citations
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December 2022 in “Bio-Design and Manufacturing” This study demonstrates that the newly developed portable reflectance confocal microscope (PRCM) offers real-time, noninvasive monitoring of wound healing processes by visualizing skin morphology in both mice and humans.
11 citations
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September 2014 in “International Journal of Molecular Sciences” This study found that mycophenolate may stabilize β-catenin and counteract interferon-γ-induced catagen changes in human dermal papilla cells, which could promote hair growth.
32 citations
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July 2003 in “Histochemistry and Cell Biology”
11 citations
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August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
January 2025 in “Nature Communications” This study discovered that calcium dependent protein kinase 1 (CPK1) directly activates cyclic nucleotide-gated channels 5, 6, and 9, promoting root hair growth in Arabidopsis by regulating Ca²⁺ signaling.
5 citations
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December 2002 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study suggests that keratinocytes in skin and mucous membranes might be involved in prion disease transmission due to their expression of PrPc, potentially serving as an entry point for prions.
14 citations
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May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
1 citations
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April 2024 in “Metabolites” In this study, researchers found that male and female APCHi mice exposed to ionizing radiation showed near-normal lipid and metabolite levels, suggesting activated protein C may offer some protective effects against radiation-induced damage affecting organ systems.
8 citations
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January 2018 in “Journal of Analytical Methods in Chemistry” This study developed a reliable HPLC-UV/Vis method to determine aluminum phthalocyanine chloride in skin, supporting its use in skin permeation studies for photodynamic therapy of cutaneous tumors.
9 citations
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December 2023 in “Materials Today Bio” This study found that modified microcrystalline cellulose with citric and ascorbic acid demonstrated enhanced hemostatic properties and biocompatibility in vitro and in animal hemorrhage models.