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PAWS1 interacts and co-localises with the alpha isoform of casein kinase 1 (CK1), and that PAWS1 mutations incapable of binding CK1 fail both to activate Wnt signalling and to elicit axis duplication in Xenopus embryos.
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Results showed identical expression pattern for KRT1 and KRT10, their expression was higher in pediatric cases than in adults, especially in pediatric recurrent samples.
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The authors report a large Italian family affected Palmoplantar Keratoderma and Charcot Marie Tooth disease. Two different mutated genes, KRT1 and MPZ were responsible for the two main clinical signs. Exome analysis detected two missense mutations, one in KRT1 and one in MPZ.
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Results show that missense mutations exert dominant negative effects on the keratins K1/K10 protein structure by altering inter-chain interactions.
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KRT1 and the specific polymorphism of KRT1 in this Chinese Han population are associated with autoimmune diseases SLE and SSc
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Case Report: post-zygotic mosaicism of KRT/1o mutations in epidermolytic Ichthyosis.
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KRT1 played an important role of maintaining epithelial barrier and its down-regulation in intestinal tissue was correlated with the progression of inflammatory bowel disease.
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Report genetic/clinical spectrum of KRT1 mutations in keratinopathic ichthyosis.
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demonstrated the presence of a genetic cutaneous mosaicism. Both patients carry the KRT1 pI479T substitution, but in the palmoplantar areas of one of them, only the mutated allele is expressed (hemizygous). This leads to highlight a new type of cutaneous mosaic, the palmoplantar mosaicism
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In our study, the missense mutation in the proband and his mother with epidermolytic ichthyosis was a single amino acid difference in codon 478, which causes more serious skin manifestations
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Complete structure of an epithelial keratin 1/keratin 10 dimer has been presented.
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These findings indicate that exogenous FABP4 interacts with plasma membrane proteins, specifically CK1.
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analysis of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma
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In ichthyosis with confetti, a causal de novo KRT1 mutation had a C-terminal frameshift, replacing 22 C-terminal AAs with an alternate 30-AA peptide. It distorted the IF network and mislocalized to the nucleus. Reversion occurred by mitotic recombination.
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In HeLa cells transiently expressing C2GnT-M-GFP, knockdown of KRT1 does not affect Golgi morphology but leaves C2GnT-M outside of the Golgi, resulting in the formation of sialyl-T antigen.
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Decreased levels of cytokeratin-1 is associated with breast cancer.
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Hsp74, a potential bladder cancer marker, has direct interaction with keratin 1.
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identified among endothelial antigens to which antibodies are produced during heart transplant rejection
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Case Report/Letter: specific mutation in 2B domain of KRT1 gives rise to mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens.
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study reports 2 related women of Colombian origin, affected by a severe ichthyosis curth-macklin phenotype, who present a novel KRT1 mutation c.1577delG (p.Gly526Alafs*88)
