Chang, Y. C. et al. Modulation of macrophage differentiation and activation by decoy receptor 3. J. Leukoc. Biol. 75, 486–494 (2004). Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti. Chipev, C. C., Yang, J.-M., DiGiovanna, J. J., Steinert, P. M., Marekov, L., Compton, J. G., Bale, S. J. A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Characterization of a novel human type II epithelial keratin K1b, specifically expressed in eccrine sweat glands.

Autosomal recessive;Autosomal recessive form;Autosomal recessive predisposition;biallelic_autosomal In a father and daughter who had annular epidermolytic ichthyosis (AEI1; 607602), Joh et al. (1997) identified a heterozygous missense mutation in the KRT10 gene (R83E; 148080.0014) that segregated with disease in the family and was not found in controls.Yeh, C.-N. et al. Fas/Fas ligand mediates keratinocyte death in sunitinib-induced hand-foot skin reaction. J. Invest. Dermatol. 134, 2768–2775 (2014). In 2 unrelated patients with IWC, who both died from aggressive squamous cell carcinomas, Burger et al. (2020) identified heterozygosity for KRT10 mutations: the woman had the recurrent splicing mutation in intron 6 (148080.0023), and the man had an indel mutation in exon 7 (148080.0025). Antiseptics — antibacterial soaps, chlorhexidine, and sodium hypochlorite (bleach) baths can help prevent infections, which require topical or systemic antibiotics as treatment. Full size image The reduction in EGFR expression accompanying keratinocyte terminal differentiation may contribute to downregulation of DcR3

Bamias, G. et al. Upregulation and nuclear localization of TNF‐like Cytokine 1A (TL1A) and its receptors DR3 and DcR3 in psoriatic skin lesions. Exp. Dermatol 20, 725–731 (2011).In a 28-year-old Caucasian man (IWC100) with IWC, Lim et al. (2016) sequenced the KRT10 gene and identified a de novo heterozygous 1-bp deletion (148080.0024), causing a frameshift predicted to replace the endogenous glycine-rich tail domain of keratin-10 with an alanine-rich motif that extends the C terminus by 19 additional amino acids. Laser capture microdissection of patient white spots revealed that each revertant spot harbored copy-neutral loss of heterozygosity in the proximal q arm of chromosome 17 extending to the telomere, consistent with reversion via mitotic recombination. However, Renz et al. (2019) analyzed the 1-bp deletion in patient IWC100 and demonstrated that the variant leads to several alternative splicing products, the majority of which result in an arginine-rich C terminus. In a mother and her 2 children with AEI, Suga et al. (1998) screened the KRT1, KRT2, and KRT10 genes and identified heterozygosity for a missense mutation in the KRT10 gene (I107T; 148080.0028). The mutation was not found in unaffected family members or in 50 controls. 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). Microbial infection) Interacts (via C-terminal tail domain) with the S.aureus clumping factor, clfB; this interaction probably mediates S.aureus attachment to the keratinized squamous epithelial cells from the nasal cavity.

Joly-Tonetti, N., Ondet, T., Monshouwer, M. & Stamatas, G. N. EGFR inhibitors switch keratinocytes from a proliferative to a differentiative phenotype affecting epidermal development and barrier function. BMC Cancer 21, 1–10 (2021). In a 28-year-old Caucasian man (IWC100) with IWC, Lim et al. (2016) sequenced the KRT10 gene and identified a de novo heterozygous 1-bp deletion ( 148080.0024), causing a frameshift predicted to replace the endogenous glycine-rich tail domain of keratin-10 with an alanine-rich motif that extends the C terminus by 19 additional amino acids. Laser capture microdissection of patient white spots revealed that each revertant spot harbored copy-neutral loss of heterozygosity in the proximal q arm of chromosome 17 extending to the telomere, consistent with reversion via mitotic recombination. However, Renz et al. (2019) analyzed the 1-bp deletion in patient IWC100 and demonstrated that the variant leads to several alternative splicing products, the majority of which result in an arginine-rich C terminus. Chen PJ, Li CX, Wen J, Peng YS, et al. S159p mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. J Eur Acad Dermatol Venereol 2016; 30: e102–4. DOI: 10.1111/jdv.13345. PubMedFigure 6 Decreased Akt and PKCζ activities in bK5hK10 transgenic mouse epidermis. Immunofluorescence analysis of the Akt expression in non-transgenic ( A) and homozygous transgenic ( A′) newborn mouse epidermis, showing similar staining throughout the entire epidermis in both cases. B and B′, the same field as in A and A′, showing that the expression of phosphorylated (active) Akt is constrained to the basal layer in non-transgenic mice ( B) and that staining is severely reduced in homozygous transgenic epidermis ( B′). C and C′, 4′,6-diamidino-2-phenylindole counterstaining of the sections. D, Western blot of whole skin extracts from the quoted genotypes demonstrating the decrease in phosphorylated Akt content in homozygous mice epidermis. E, kinase assays of the immunoprecipitated endogenous Akt ( upper panel) and PKCζ ( middle panel) demonstrating the inhibition of both kinase activities in homozygous, and to a lesser extent in heterozygous, transgenic bK5hK10 epidermis. The lower panel shows the Western blot of the immunoprecipitated PKCζ, demonstrating that this enzyme is expressed to a similar level in all the genotypes. Bar in C = 10 μm. Dashed lines in A and A′ denote the dermal-epidermal junction. Lee, C. S. et al. Elevated serum decoy receptor 3 with enhanced T cell activation in systemic lupus erythematosus. Clin. Exp. Immunol. 151, 383–390 (2008). Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. (Letter) Dawson SJ, White LA (1992). "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". J. Infect. 24 (3): 317–20. doi: 10.1016/S0163-4453(05)80037-4. PMID 1602151.