Property Summary

NCBI Gene PubMed Count 39
PubMed Score 343.82
PubTator Score 179.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
periodontitis -1.400 2.8e-09
Atopic dermatitis -4.200 1.3e-04
psoriasis -1.700 2.1e-32

Gene RIF (21)

PMID Text
26381575 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.
25965869 Authors report a multi-generation family with prominent ichthyosis and palmoplantar involvement due to a novel mutation in loricrin.
25896246 Studies on human keratinocytes recognized that loricrin expression was inversely related to the expression of the cyclin-dependent kinase inhibitor p21
25234742 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
25142840 Results describe a novel frameshift mutation leading to loricrin keratoderma presenting with colloidion membrane
23678955 We found no mutations of Loricrin in two Progressive symmetrical erythrokeratoderma families.
22831754 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
21221983 identified mRNA transcripts from three genes CDSN, LOR and KRT9, showing strong over-expression in skin samples relative to samples from forensic body fluids, making them suitable markers for skin identification
21198793 There were no mutations found in the LOR gene and the true pathogenesis of progressive symmetrical erythrokeratodermia remains unknown.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20236940 VEGF release and the subsequent activation of VEGF receptor 2 link loricrin gene mutations to rapid cell proliferation in a cellular model of loricrin keratoderma.
20184865 These findings suggest that inverse effects of PKCdelta and PKCeta on loricrin expression attributes to the expression of c-Jun and JunD.
19672094 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.
19601998 Observational study of gene-disease association. (HuGE Navigator)
18844868 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.
18166499 The expression of loricrin and involucrin in invovled and uninvolved skin of patients with atopic dermatitis is reported.
17953701 report the clinical and molecular characterization of a new family with the recurrent 730insG LOR mutation, giving new insights in LK genotype-phenotype correlation
15598222 ruled out as a candidate for the PSORS4 locus.
15102081 Barrier abnormality in loricrin keratoderma is linked to defective CE scaffold, resulting in increased extracellular permeability.
12615358 Unique mutations in glycine-rich domain of mutant loricrin form arginine-rich nuclear localization sequences that disrupt differentiation of keratinocytes.
12200429 regulation of gene expression requires interactions among multiple transcription factors in keratinocytes located in different compartments of the epidermis

AA Sequence

MSYQKKQPTPQPPVDCVKTSGGGGGGGGSGGGGCGFFGGGGSGGGSSGSGCGYSGGGGYSGGGCGGGSSG      1 - 70
GGGGGGIGGCGGGSGGSVKYSGGGGSSGGGSGCFSSGGGGSGCFSSGGGGSSGGGSGCFSSGGGGSSGGG     71 - 140
SGCFSSGGGGFSGQAVQCQSYGGVSSGGSSGGGSGCFSSGGGGGSVCGYSGGGSGCGGGSSGGSGSGYVS    141 - 210
SQQVTQTSCAPQPSYGGGSSGGGGSGGSGCFSSGGGGGSSGCGGGSSGIGSGCIISGGGSVCGGGSSGGG    211 - 280
GGGSSVGGSGSGKGVPICHQTQQKQAPTWPSK                                          281 - 312
//

Text Mined References (41)

PMID Year Title
26381575 2015 Knockdown of either filaggrin or loricrin increases the productions of interleukin (IL)-1?, IL-8, IL-18 and granulocyte macrophage colony-stimulating factor in stratified human keratinocytes.
25965869 2015 Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.
25896246 2015 Barrier Function of the Repaired Skin Is Disrupted Following Arrest of Dicer in Keratinocytes.
25234742 2015 Two novel mutations in the LOR gene in three families with loricrin keratoderma.
25142840 2015 A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.
23678955 2013 Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.
22831754 2013 Collodion baby and loricrin keratoderma: a case report and mutation analysis.
21221983 2011 mRNA-based skin identification for forensic applications.
21198793 2011 Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20236940 2010 Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma.
20184865 2010 Protein kinase C delta and eta differently regulate the expression of loricrin and Jun family proteins in human keratinocytes.
19672094 2010 Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A.
19601998 2009 Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients.
18844868 2008 A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.
18166499 2008 Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6.
17953701 2008 De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
15598222 2004 Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15102081 2004 Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).
12615358 2003 Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12200429 2002 Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families.
12072018 2002 A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.
11703298 2001 Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.
11698679 2001 Differentially expressed late constituents of the epidermal cornified envelope.
11443109 2001 Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro.
10908733 2000 Small proline-rich protein 1 is the major component of the cell envelope of normal human oral keratinocytes.
10798362 2000 The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
10066784 1999 Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin.
9690138 1998 Loricrin and human skin diseases: molecular basis of loricrin keratodermas.
9326398 1997 Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
9326323 1997 The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.
8999895 1997 Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope.
8673107 1996 A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
8274037 1993 Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia.
8248167 1993 Overexpression of human loricrin in transgenic mice produces a normal phenotype.
7592852 1995 Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein.
2007607 1991 Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins.
1355480 1992 The human loricrin gene.