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hyperkeratosis. Am J Hum Genet. 1994 Feb;54(2):179-90. Citation on PubMed or Free article on PubMed Central Liu LP et al. Transcriptomic and Functional Evidence Show Similarities between Human Amniotic Epithelial Stem Cells and Keratinocytes. Cells 11:N/A (2021). Lee, Y.-S., Yuspa, S. H. & Dlugosz, A. A. Differentiation of cultured human epidermal keratinocytes at high cell densities is mediated by endogenous activation of the protein kinase C signaling pathway. J. Invest. Dermatol. 111, 762–766 (1998). Polkoff KM et al. LGR5 is a conserved marker of hair follicle stem cells in multiple species and is present early and throughout follicle morphogenesis. Sci Rep 12:9104 (2022).
Immunohistochemistry with specific keratin antibodies can be used to identify the type of keratin involved. Seo, H. R. et al. PKCα induces differentiation through ERK1/2 phosphorylation in mouse keratinocytes. Exp. Mol. Med. 36, 292–299 (2004). Rout PD, Nair A, Gupta A, Kumar P. Epidermolytic hyperkeratosis: clinical update. Clin Cosmet Investig Dermatol 2019; 12: 333–44. DOI: 10.2147/ccid.S166849. PubMed Central Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. In a young adult man (patient 2) with ichthyosis with confetti (IWC; 609165), Spoerri et al. (2015) identified heterozygosity for a de novo splicing mutation (c.1374-1G-C) in intron 6 of the KRT10 gene, predicted to cause a frameshift resulting in a premature termination codon (Ser458ArgfsTer120). The patient was born with a collodion membrane and exhibited other ectodermal anomalies including small malformed ears, hypoplastic nipples, and dorsal acral hypertrichosis, as well as eyelid ectropion, scant eyebrows and eyelashes, and large lunulae with long nail plates. Hyperpigmentation was noted within areas of healthy (revertant) skin. Ben-Bassat, H. et al. Inhibitors of epidermal growth factor receptor kinase and of cyclin-dependent kinase 2 activation induce growth arrest, differentiation, and apoptosis of human papilloma virus 16-immortalized human keratinocytes. Cancer Res. 57, 3741–3750 (1997).
Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form.The sequence AAA59468.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus. { ECO:0000305} Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis: correlation between location and disease severity. Nanba, D., Toki, F., Barrandon, Y. & Higashiyama, S. Recent advances in the epidermal growth factor receptor/ligand system biology on skin homeostasis and keratinocyte stem cell regulation. J. Dermatol. Sci. 72, 81–86 (2013). Darmon MY, Sémat A, Darmon MC, Vasseur M (1988). "Sequence of a cDNA encoding human keratin No 10 selected according to structural homologies of keratins and their tissue-specific expression". Mol. Biol. Rep. 12 (4): 277–83. doi: 10.1007/BF00444680. PMID 2448602. S2CID 4322605. Maeda, T., Hao, C. & Tron, V. A. Ultraviolet light (UV) regulation of the TNF family decoy receptors DcR2 and DcR3 in human keratinocytes. J. Cutan. Med. Surg. 5, 294–298 (2001).