Property Summary

NCBI Gene PubMed Count 39
Grant Count 47
R01 Count 23
Funding $5,477,206.32
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 0.000
Atopic dermatitis -4.200 0.000
psoriasis -1.700 0.000

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)
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AA Sequence

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