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The protein encoded by AE1 is a member of the keratin gene family.
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Results show that missense mutations exert dominant negative effects on the keratins K1/K10 (show KRT10 Antibodies) protein structure by altering inter-chain interactions.
KRT1 and the specific polymorphism of KRT1 in this Chinese Han population are associated with autoimmune diseases SLE and SSc (show CYP11A1 Antibodies)
Case Report: post-zygotic mosaicism of KRT/1o mutations in epidermolytic Ichthyosis (show LBR Antibodies).
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.
Report genetic/clinical spectrum of KRT1 mutations in keratinopathic ichthyosis (show LBR Antibodies).
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
In our study, the missense mutation in the proband and his mother with epidermolytic ichthyosis (show LBR Antibodies) was a single amino acid difference in codon 478, which causes more serious skin manifestations
Complete structure of an epithelial keratin 1/keratin 10 (show KRT10 Antibodies) dimer has been presented.
These findings indicate that exogenous FABP4 (show FABP4 Antibodies) interacts with plasma membrane proteins, specifically CK1 (show CSNK1A1L Antibodies).
analysis of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.
67 kDa cytokeratin
, cytokeratin 1
, epidermolytic hyperkeratosis 1
, hair alpha protein
, keratin, type II cytoskeletal 1
, type-II keratin Kb1