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Items: 1 to 20 of 41

1.

Two novel mutations in the LOR gene in three families with loricrin keratoderma.

Hotz A, Bourrat E, Hausser I, Haftek M, da Silva MV, Fischer J.

Br J Dermatol. 2015 Apr;172(4):1158-62. doi: 10.1111/bjd.13414. Epub 2015 Mar 9. No abstract available.

PMID:
25234742
2.

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.

Kinsler VA, Drury S, Khan A, Waelchli R, Rukaite G, Barnicoat A, Lench N, Harper JI, O'Shaughnessy RF.

Br J Dermatol. 2015 Jan;172(1):262-4. doi: 10.1111/bjd.13361. Epub 2014 Dec 9. No abstract available.

3.

Collodion baby and loricrin keratoderma: a case report and mutation analysis.

Yeh JM, Yang MH, Chao SC.

Clin Exp Dermatol. 2013 Mar;38(2):147-50. doi: 10.1111/j.1365-2230.2012.04426.x. Epub 2012 Jul 25. Review.

PMID:
22831754
4.

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. 2008 Sep;159(3):714-9. doi: 10.1111/j.1365-2133.2008.08657.x. Epub 2008 Aug 21.

PMID:
18844868
5.

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. 2008 Jan;73(1):85-8. Epub 2007 Oct 22. No abstract available.

PMID:
17953701
6.

Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).

Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, Moskowitz DG, Christiano AM, Feingold KR, Elias PM.

J Invest Dermatol. 2004 Apr;122(4):909-22.

7.
9.

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.

O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM.

Clin Exp Dermatol. 2002 May;27(3):243-6.

PMID:
12072018
10.

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. 2001 Oct;145(4):657-60.

PMID:
11703298
11.

Loricrin and human skin diseases: molecular basis of loricrin keratodermas.

Ishida-Yamamoto A, Takahashi H, Iizuka H.

Histol Histopathol. 1998 Jul;13(3):819-26. Review.

PMID:
9690138
12.

Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.

Korge BP, Ishida-Yamamoto A, P√ľnter C, Dopping-Hepenstal PJ, Iizuka H, Stephenson A, Eady RA, Munro CS.

J Invest Dermatol. 1997 Oct;109(4):604-10.

13.
14.

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM.

Nat Genet. 1996 May;13(1):70-7.

PMID:
8673107
15.

Loricrin immunoreactivity in human skin: localization to specific granules (L-granules) in acrosyringia.

Ishida-Yamamoto A, Hohl D, Roop DR, Iizuka H, Eady RA.

Arch Dermatol Res. 1993;285(8):491-8.

PMID:
8274037
16.

Overexpression of human loricrin in transgenic mice produces a normal phenotype.

Yoneda K, Steinert PM.

Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10754-8.

17.

Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins.

Hohl D, Mehrel T, Lichti U, Turner ML, Roop DR, Steinert PM.

J Biol Chem. 1991 Apr 5;266(10):6626-36.

18.

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. 2010 May 21;285(21):16184-94. doi: 10.1074/jbc.M109.056424. Epub 2010 Mar 17.

19.

Locus 1q21 Gene expression changes in atopic dermatitis skin lesions: deregulation of small proline-rich region 1A.

Jarzab J, Filipowska B, Zebracka J, Kowalska M, Bozek A, Rachowska R, Gubala E, Grzanka A, Hadas E, Jarzab B.

Int Arch Allergy Immunol. 2010;151(1):28-37. doi: 10.1159/000232568. Epub 2009 Aug 6.

20.

Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.

Giardina E, Capon F, De Rosa MC, Mango R, Zambruno G, Orecchia A, Chimenti S, Giardina B, Novelli G.

Ann Hum Genet. 2004 Nov;68(Pt 6):639-45.

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