LOR (gene)

Loricrin, also known as LOR, is a human gene.cite web | title = Entrez Gene: LOR loricrin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4014| accessdate = ]

PBB_Summary
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summary_text = This gene encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells. Mutations in this gene are associated with Vohwinkel's syndrome and progressive symmetric erythrokeratoderma, both inherited skin diseases.cite web | title = Entrez Gene: LOR loricrin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4014| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Ishida-Yamamoto A, Takahashi H, Iizuka H |title=Loricrin and human skin diseases: molecular basis of loricrin keratodermas. |journal=Histol. Histopathol. |volume=13 |issue= 3 |pages= 819–26 |year= 1998 |pmid= 9690138 |doi=
*cite journal | author=Ishida-Yamamoto A |title=Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. |journal=J. Dermatol. Sci. |volume=31 |issue= 1 |pages= 3–8 |year= 2003 |pmid= 12615358 |doi=
*cite journal | author=Yoneda K, Hohl D, McBride OW, "et al." |title=The human loricrin gene. |journal=J. Biol. Chem. |volume=267 |issue= 25 |pages= 18060–6 |year= 1992 |pmid= 1355480 |doi=
*cite journal | author=Hohl D, Mehrel T, Lichti U, "et al." |title=Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins. |journal=J. Biol. Chem. |volume=266 |issue= 10 |pages= 6626–36 |year= 1991 |pmid= 2007607 |doi=
*cite journal | author=Candi E, Melino G, Mei G, "et al." |title=Biochemical, structural, and transglutaminase substrate properties of human loricrin, the major epidermal cornified cell envelope protein. |journal=J. Biol. Chem. |volume=270 |issue= 44 |pages= 26382–90 |year= 1995 |pmid= 7592852 |doi=
*cite journal | author=Yoneda K, Steinert PM |title=Overexpression of human loricrin in transgenic mice produces a normal phenotype. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 22 |pages= 10754–8 |year= 1993 |pmid= 8248167 |doi=
*cite journal | author=Ishida-Yamamoto A, Hohl D, Roop DR, "et al." |title=Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia. |journal=Arch. Dermatol. Res. |volume=285 |issue= 8 |pages= 491–8 |year= 1994 |pmid= 8274037 |doi=
*cite journal | author=Maestrini E, Monaco AP, McGrath JA, "et al." |title=A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. |journal=Nat. Genet. |volume=13 |issue= 1 |pages= 70–7 |year= 1996 |pmid= 8673107 |doi= 10.1038/ng0596-70
*cite journal | author=Steinert PM, Marekov LN |title=Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope. |journal=J. Biol. Chem. |volume=272 |issue= 3 |pages= 2021–30 |year= 1997 |pmid= 8999895 |doi=
*cite journal | author=Ishida-Yamamoto A, McGrath JA, Lam H, "et al." |title=The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 581–9 |year= 1997 |pmid= 9326323 |doi=
*cite journal | author=Korge BP, Ishida-Yamamoto A, Pünter C, "et al." |title=Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. |journal=J. Invest. Dermatol. |volume=109 |issue= 4 |pages= 604–10 |year= 1997 |pmid= 9326398 |doi=
*cite journal | author=Candi E, Tarcsa E, Idler WW, "et al." |title=Transglutaminase cross-linking properties of the small proline-rich 1 family of cornified cell envelope proteins. Integration with loricrin. |journal=J. Biol. Chem. |volume=274 |issue= 11 |pages= 7226–37 |year= 1999 |pmid= 10066784 |doi=
*cite journal | author=Richard G, Brown N, Smith LE, "et al." |title=The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 321–9 |year= 2000 |pmid= 10798362 |doi=
*cite journal | author=Lee CH, Marekov LN, Kim S, "et al." |title=Small proline-rich protein 1 is the major component of the cell envelope of normal human oral keratinocytes. |journal=FEBS Lett. |volume=477 |issue= 3 |pages= 268–72 |year= 2000 |pmid= 10908733 |doi=
*cite journal | author=Candi E, Oddi S, Terrinoni A, "et al." |title=Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro. |journal=J. Biol. Chem. |volume=276 |issue= 37 |pages= 35014–23 |year= 2001 |pmid= 11443109 |doi= 10.1074/jbc.M010157200
*cite journal | author=Matsumoto K, Muto M, Seki S, "et al." |title=Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby. |journal=Br. J. Dermatol. |volume=145 |issue= 4 |pages= 657–60 |year= 2001 |pmid= 11703298 |doi=
*cite journal | author=O'Driscoll J, Muston GC, McGrath JA, "et al." |title=A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. |journal=Clin. Exp. Dermatol. |volume=27 |issue= 3 |pages= 243–6 |year= 2002 |pmid= 12072018 |doi=
*cite journal | author=Jang SI, Steinert PM |title=Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families. |journal=J. Biol. Chem. |volume=277 |issue= 44 |pages= 42268–79 |year= 2003 |pmid= 12200429 |doi= 10.1074/jbc.M205593200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899

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