KERATIN 10 gum salon LEAVE IN MIRACLE TREATMENT 300ml RSP £19.99

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Terheyden P, Grimberg G, Hausser I, Rose C, et al. Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. J Invest Dermatol 2009; 129: 2721–23. DOI: 10.1038/jid.2009.131. PubMed Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops. In a 28-year-old man (IWC100) with ichthyosis with confetti (IWC; 609165), Lim et al. (2016) identified heterozygosity for a de novo 1-bp deletion (c.1373delG) at the last base of exon 6 of the KRT10 gene, causing a frameshift that replaced the endogenous glycine-rich tail domain of keratin-10 with an alanine-rich motif that extended the C terminus by 19 additional amino acids. Immunolocalization in affected skin showed an overall reduction in suprabasal K10 staining, with evidence of filament network collapse and focal aggregates within the nucleus; these findings were not seen in revertant or normal control skin. Costaining with a nucleolar marker revealed K10 aggregates within the nucleolus. Immunolocalization of the KRT10 binding partner KRT1 ( 139350) also demonstrated nuclear mislocalization. Laser-capture microdissection of 3 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. For all 3 revertant spots, the region of crossover was estimated to fall between SNPs rs6505079 and rs8078229. Korge BP, Gan SQ, McBride OW, etal. (1992). "Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops". Proc. Natl. Acad. Sci. U.S.A. 89 (3): 910–4. Bibcode: 1992PNAS...89..910K. doi: 10.1073/pnas.89.3.910. PMC 48354. PMID 1371013. 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

Rothnagel, J. A., Fisher, M. P., Axtell, S. M., Pittelkow, M. R., Anton-Lamprecht, I., Huber, M., Hohl, D., Roop, D. R. Keratolytics — the main goal of therapy is to reduce hyperkeratosis. Common keratolytics include α-hydroxy acids, urea, propylene glycol, salicylic acid, N-acetylcysteinamide, liarozole, and calcipotriol. HP:0001509, HP:0003501, HP:0003507, HP:0003512, HP:0003518, HP:0003519, HP:0008871, HP:0008882, HP:0008888, HP:0008913

What causes epidermolytic ichthyosis?

Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti. The prognosis of epidermolytic ichthyosis is variable and depends on the severity of the symptoms. There is an immediate risk of dehydration, infection, sepsis, and premature death. Patients who survive experience infection, skin fragility, and blistering episodes throughout their lives, in addition to stress and social isolation accompanying these symptoms [1,2]. Chipev CC, Korge BP, Markova N, Bale SJ, et al. A leucine  proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 1992; 70: 821–8. DOI: 10.1016/0092-8674(92)90315-4. PubMed Tsujikawa K et al. Developmentally interdependent stretcher-compressor relationship between the embryonic brain and the surrounding scalp in the preosteogenic head. Dev Dyn 251:1107-1122 (2022).

Leon Carrion, S., Sutter, C. H. & Sutter, T. R. J. E. D. Combined treatment with sodium butyrate and PD 153035 enhances keratinocyte differentiation. Exp. Dermatol. 23, 211–214 (2014).March OP, Lettner T, Klausegger A, Ablinger M, et al. Gene editing-mediated disruption of epidermolytic ichthyosis-associated Krt10 alleles restores filament stability in keratinocytes. J Invest Dermatol 2019; 139: 1699–1710.e1696. DOI: 10.1016/j.jid.2019.03.1146. PubMed

Immunohistochemistry with specific keratin antibodies can be used to identify the type of keratin involved. Pitti, R. M. et al. Genomic amplification of a decoy receptor for Fas ligand in lung and colon cancer. Nature 396, 699–703 (1998).

Pastore, S., Lulli, D. & Girolomoni, G. J. Epidermal growth factor receptor signalling in keratinocyte biology: implications for skin toxicity of tyrosine kinase inhibitors. Arch. Toxicol. 88, 1189–1203 (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). Cohen, G. et al. Epidermal growth factor receptor signaling is up-regulated in human colonic aberrant crypt foci. Cancer Res. 66, 5656–5664 (2006). Liu, Y.-L. et al. Amelioration of amyloid-β-induced deficits by DcR3 in an Alzheimer’s disease model. Mol. Neurodegener. 12, 30 (2017). Spoerri, I., Brena, M., De Mesmaeker, J., Schlipf, N., Fischer, J., Tadini, G., Itin, P. H., Burger, B.

Funke, B. et al. Functional characterisation of decoy receptor 3 in Crohn’s disease. Gut 58, 483–491 (2009). In a 28-year-old man (IWC100) with ichthyosis with confetti (IWC; 609165), Lim et al. (2016) identified heterozygosity for a de novo 1-bp deletion (c.1373delG) at the last base of exon 6 of the KRT10 gene, causing a frameshift that replaced the endogenous glycine-rich tail domain of keratin-10 with an alanine-rich motif that extended the C terminus by 19 additional amino acids. Immunolocalization in affected skin showed an overall reduction in suprabasal K10 staining, with evidence of filament network collapse and focal aggregates within the nucleus; these findings were not seen in revertant or normal control skin. Costaining with a nucleolar marker revealed K10 aggregates within the nucleolus. Immunolocalization of the KRT10 binding partner KRT1 (139350) also demonstrated nuclear mislocalization. Laser-capture microdissection of 3 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. For all 3 revertant spots, the region of crossover was estimated to fall between SNPs rs6505079 and rs8078229.Reis A, Hennies HC, Langbein L, Digweed M, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (Eppk). Nat Genet 1994; 6: 174–9. DOI: 10.1038/ng0294-174. PubMed Status: REVIEWED Source sequence(s) AC090283 Consensus CDS CCDS11377.1 UniProtKB/Swiss-Prot P13645, Q14664, Q8N175 Related ENSP00000269576.5, ENST00000269576.6 Conserved Domains (1) summary pfam00038 Rasmussen HH, van Damme J, Puype M, etal. (1993). "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes". Electrophoresis. 13 (12): 960–9. doi: 10.1002/elps.11501301199. PMID 1286667. S2CID 41855774.