Recombinant Human Loricrin (LOR)

1. Authors report a multi-generation family with prominent ichthyosis and palmoplantar involvement due to a novel mutation in loricrin. PMID: 25965869
2. Letter: Knockdown of either filaggrin or loricrin increases the productions of interleukin (IL)-1alpha, IL-8, IL-18 and granulocyte macrophage colony-stimulating factor in stratified human keratinocytes. PMID: 26381575
3. Studies on human keratinocytes recognized that loricrin expression was inversely related to the expression of the cyclin-dependent kinase inhibitor p21 PMID: 25896246
4. two novel heterozygous frameshift mutations in exon 2 - c.646_647insGCAGCAGGTC, p.Gln216Argfs*123 and c.798_799dupT, p.Gly267Trpfs*69 in loricrin keratoderma patients PMID: 25234742
5. Results describe a novel frameshift mutation leading to loricrin keratoderma presenting with colloidion membrane PMID: 25142840
6. We found no mutations of Loricrin in two Progressive symmetrical erythrokeratoderma families. PMID: 23678955
7. We describe a young man who was a collodion baby and had the typical presentation of Loricrin keratoderma. Direct DNA sequencing identified a heterozygous mutation in the loricrin gene with a single G insertion, 730insG, present in (a) the patient PMID: 22831754
8. There were no mutations found in the LOR gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown. PMID: 21198793
9. These findings suggest that inverse effects of PKCdelta and PKCeta on loricrin expression attributes to the expression of c-Jun and JunD. PMID: 20184865
10. regulation of gene expression requires interactions among multiple transcription factors in keratinocytes located in different compartments of the epidermis PMID: 12200429
11. Unique mutations in glycine-rich domain of mutant loricrin form arginine-rich nuclear localization sequences that disrupt differentiation of keratinocytes. PMID: 12615358
12. Barrier abnormality in loricrin keratoderma is linked to defective CE scaffold, resulting in increased extracellular permeability. PMID: 15102081
13. ruled out as a candidate for the PSORS4 locus. PMID: 15598222
14. report the clinical and molecular characterization of a new family with the recurrent 730insG LOR mutation, giving new insights in LK genotype-phenotype correlation PMID: 17953701
15. results give evidence that heterogeneous phenotypes of LK may be the result of genetic heterogeneity of loricrin mutations, and demonstrate that nuclear accumulation of mutant loricrin is due to the nuclear targeting sequences in the mutant C-terminus. PMID: 18844868
16. the deregulated increase in SPRR1A expression in chronic atopic skin lesions reflects an insufficient rise in SPRR transcripts, unable to compensate for the lack of LOR and thus contributing to the persistence of chronic atopic dermatitis skin lesions. PMID: 19672094

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HGNC: 6663

OMIM: 152445

KEGG: hsa:4014

STRING: 9606.ENSP00000357731

UniGene: Hs.251680