35 citations
,
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.
40 citations
,
December 2012 in “PLoS ONE” This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.
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.
57 citations
,
January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
May 2026 in “Research Square” This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.
87 citations
,
November 2002 in “Journal of Investigative Dermatology” 2 citations
,
August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
March 2007 in “Journal of Cell Science” This study found that keratin K1014chim expression in mice did not reduce epidermal cell proliferation but increased susceptibility to benign tumors, challenging previous beliefs about K10's role in inhibiting tumor development.
19 citations
,
December 2015 in “Journal of Investigative Dermatology” This study found that keratin 17 expression is initially down-regulated and later strongly up-regulated by ionizing radiation in a rat model, with p53 repressing early transcription.
47 citations
,
April 2000 in “Experimental Dermatology” This study identified a novel missense mutation in the hairless gene in a Polish family, which may contribute to congenital atrichia with papular lesions by affecting the gene's function.
47 citations
,
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.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” This study found that Polycomb Repressive Complex 1 is crucial for maintaining stem cell identity across different lineages, but its loss results in varied transcriptional outcomes depending on the tissue context.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
15 citations
,
September 2002 in “Journal of Biological Chemistry” This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.
January 2003 in “The Chinese Journal of Burns Wounds & Surface Ulcers” This study observed that cytokeratin 19 expression in cutaneous carcinomas correlates with the grade of squamous cell carcinomas, with more expression in higher-grade SCCs.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting the Mitochondrial Pyruvate Carrier in human hair follicles ex vivo activated the integrated stress response, affecting cell proliferation and metabolism.
2 citations
,
October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
August 2009 in “Mechanisms of Development” 51 citations
,
December 2006 in “Mammalian Genome” 6 citations
,
March 1996 in “Journal of Investigative Dermatology”
9 citations
,
November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
117 citations
,
August 1999 in “Nature Genetics” 3 citations
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March 2025 in “Science Advances” This study found that the unique crest feather formation in Polish chickens is driven by a 195-bp duplication in the HoxC10 gene region, which alters gene expression by modifying the genomic structure, suggesting a mechanism for diverse integumentary appendages in birds.
3 citations
,
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.
12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
63 citations
,
March 2018 in “Experimental Dermatology” This review explores the physiological roles of collagen XVII in the epidermis, its involvement in stem cell maintenance, and its connections with signaling pathways, but it reports no new results.
In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.
32 citations
,
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.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.