Citations for
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
Wei S, Zhou Y, Zhang TD, Huang ZM, Zhang XB, Zhu HL, Liang BH, Lin L, Deng L.
Clin Exp Dermatol 36(4):399-405. doi: 10.1111/j.1365-2230.2010.03974.x. Epub 2010 Dec 24. 2011
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma.
Yoneda K, Demitsu T, Nakai K, Moriue T, Ogawa W, Igarashi J, Kosaka H, Kubota Y.
J Biol Chem 285(21):16184-94. Epub 2010 Mar 17. 2010
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.
Song S, Shen C, Song G, Mao X, Yan G, Wang X, Yan M, Zhong N.
Br J Dermatol 159(3):714-9. Epub 2008 Aug 21. 2008
Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6.
Kim BE, Leung DY, Boguniewicz M, Howell MD.
Clin Immunol 126(3):332-7. Epub 2007 Dec 31. 2008
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M.
Clin Genet 73(1):85-8. Epub 2007 Oct 22. No abstract available. 2008
Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.
Giardina E, Capon F, De Rosa M, Mango R, Zambruno G, Orecchia A, Chimenti S, Giardina B, Novelli G.
Ann Hum Genet 68(Pt 6):639-45. 2004
Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families.
Jang SI, Steinert PM.
J Biol Chem 277(44):42268-79. Epub 2002 Aug 27. 2002
Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby.
Matsumoto K, Muto M, Seki S, Saida T, Horiuchi N, Takahashi H, Ishida-Yamamoto A, Iizuka H.
Br J Dermatol 145(4):657-60. 2001
The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.
Ishida-Yamamoto A, McGrath JA, Lam H, Iizuka H, Friedman RA, Christiano AM.
Am J Hum Genet 61(3):581-9. 1997
Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.
Korge BP, Ishida-Yamamoto A, Punter C, Dopping-Hepenstal PJ, Iizuka H, Stephenson A, Eady RA, Munro CS.
J Invest Dermatol 109(4):604-10. 1997
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.
Maestrini E, et al.
Nat Genet 13 : 70-77. 1996
12FLG, IVL, LOR, S100A10, S100A6, S100A8, S100A9, SPRR1B, SPRR2A, SPRR3, TCHH
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (epidermal differentiation complex) on human chromosome 1q21.
Mischke D, Korge BP, Marenholz I, Volz A, Ziegler A.
J Invest Dermatol 106 : 989-992. 1996
The human loricrin gene.
Yoneda K, et al.
J Biol Chem 267 : 18060-18066. 1992
Mapping of the trichohyalin gene : co-localization with the profilaggrin, involucrin, and loricrin genes.
Fietz MJ, et al.
J Invest Dermatol 99 : 542-544. 1992
The cornified cell envelope : loricrin and transglutaminases.
Yoneda K, et al.
J Dermatol 19 : 761-764. 1992
Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins.
Hohl D, et al.
J Biol Chem 266 : 6626-6636. 1991