Recombinant Human KeRatin, type I cytoskeletal 10 (KRT10), partial

1. The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374-2A>C) mutation in the KRT10 gene responsible for the development of IWC (KRT10 defect was confirmed by immunofluorescent study). Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother PMID: 28944608
2. KRT10 gene mutation was present in all of the affected individuals, but absent in the five unaffected and 100 ethnically-matched healthy controls. PMID: 27212473
3. Mutations in the highly conserved helix initiation motif of K10 were associated with mild or severe form of epidermolytic ichthyosis PMID: 26373619
4. Report genetic/clinical spectrum of KRT10 mutations in keratinopathic ichthyosis. PMID: 26581228
5. We present an autosomal dominant pedigree with epidermolytic ichthyosis resulting from a new heterozygous missense mutation in keratin 10. PMID: 26338057
6. recombinant adenovirus-mediated overexpression of KRT10 and PTEN may improve the cisplatin resistance of ovarian cancer in vitro and in vivo PMID: 26125866
7. findings provide structural insights into phenotypic variation in epidermolytic ichthyosis due to KRT10 mutations PMID: 26176760
8. The diagnosis of ichthyosis with confetti was confirmed by the identification of 2 previously unreported mutations in intron 6 and exon 7 of KRT10. PMID: 24626314
9. We present the spectrum of clinical variability of ichthyosis with confetti in 6 patients with confirmed mutations in KRT10. PMID: 25210931
10. Case Report: extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis. PMID: 24096702
11. Data indicate that KRT10 is a downstream molecule of PTEN which improves cisplatin-resistance of ovarian cancer cells. PMID: 24434152
12. Most of the orthokeratotic dysplasia constituent cells were immunopositive for keratin 10, but not for keratins 13, 17 or 19. PMID: 22734720
13. Molecular mimicry between HSP 65 of Mycobacterium leprae and cytokeratin 10 of the host keratin play the role in pathogenesis of leprosy. PMID: 23121977
14. Pneumococcal ligands K10, laminin receptor and platelet-activating factor receptor are elevated in aged lungs and contribute to the enhanced susceptibility to pneumonia. PMID: 21615674
15. mapping and identifying disease-causing mutations in gene encoding KRT10 in ichthyosis with confetti; high frequency of somatic reversion suggests revertant stem cell clones are under positive selection and/or rate of mitotic recombination is elevated PMID: 20798280
16. Data show that TIMP-1 and cytokeratin-10 were identified as 2 newly synthesized secreted proteins in PMID: 19904223
17. Expression was altered in oral lichen planus lesions PMID: 19776502
18. Mutations in codon 156 of K10, i.e. R156S, R156P, R156H were found in epidermolytic hyperkeratosis. PMID: 12234709
19. cytokeratin 10 molecules were shown to be exposed on the surface of both desquamated nasal epithelial cells and keratinocytes; Staphylococcus aureus clumping factor B (ClfB) was shown to bind to cytokeratin K10 from the desquamated nasal epithelial cells PMID: 12427098
20. Impaired NF-kappa B activation and increased production of tumor necrosis factor alpha is observed in transgenic mice expressing keratin K10 in the basal layer of the epidermis. PMID: 12566451
21. normal cornified cell envelope is formed during the process of human epidermal keratinization, even if the suprabasal keratin filament network is disrupted as with this particular K10 mutation, M150T in BCIE PMID: 14705805
22. cytokeratin 10 may have a role in progression of head and neck squamous cell carcinoma. PMID: 15254692
23. We demonstrate that a recessive mutation in KRT10 leading to a complete human K10 knockout can cause EHK PMID: 16505000
24. Candidate autoantigen in chronic, antibiotic-resistant Lyme arthritis. PMID: 16888010
25. Squamous cell carcinoma (SCC) in mature cystic teratoma (MCT) expressed CK10 less frequently, but CK18 more frequently. SCC in MCT may be derived from metaplastic squamous epithelium. PMID: 17542994
26. Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. PMID: 18219278
27. siRNA for PRKD1 resulted in reduction of mRNA levels of PKD1, altered cell phenotype and promotion of keratinocyte differentiation, demonstrated by increased expression of involucrin and K10 mRNAs PMID: 18259765
28. CK10 alone, or in combination with CK19, can be a novel predictor for poor prognosis of hepatocellular carcinoma patients after curative resection. PMID: 18559605
29. EHK is an autosomal dominant disorder of keratinization, caused by mutations in either the KRT1 or KRT10 genes. Our patient presents EHK with palmoplantar involvement and KRT10 mutation. PMID: 19443303
30. premature termination codon of KRT10 maybe involved in recessive epidermolytic hyperkeratosis PMID: 19474805
31. Infection by HPV may alter the differentiation status of the epidermis, leading to delayed or absent expression of cytokeratin 10. PMID: 19515043

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HGNC: 6413

OMIM: 113800

KEGG: hsa:3858

STRING: 9606.ENSP00000269576

UniGene: Hs.99936