Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 224

Similar articles for PubMed (Select 16116617)

1.

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC.

Hum Mutat. 2005 Oct;26(4):351-61.

PMID:
16116617
2.

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC.

J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. Epub 2009 Jan 8.

3.

A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.

Moran JL, Qiu H, Turbe-Doan A, Yun Y, Boeglin WE, Brash AR, Beier DR.

J Invest Dermatol. 2007 Aug;127(8):1893-7. Epub 2007 Apr 12.

4.

Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J.

J Invest Dermatol. 2007 Apr;127(4):829-34. Epub 2006 Nov 30.

5.

Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.

Akiyama M, Sakai K, Yanagi T, Tabata N, Yamada M, Shimizu H.

Br J Dermatol. 2010 Jul;163(1):201-4. doi: 10.1111/j.1365-2133.2010.09745.x. Epub 2010 Mar 5.

PMID:
20222929
6.

Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.

Yu Z, Schneider C, Boeglin WE, Brash AR.

Biochim Biophys Acta. 2005 Jan 5;1686(3):238-47.

PMID:
15629692
7.

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J.

Hum Mol Genet. 2002 Jan 1;11(1):107-13.

8.

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A.

Br J Dermatol. 2011 Oct;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454.x. Epub 2011 Aug 4.

PMID:
21668430
9.

Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants.

de Juanes S, Epp N, Latzko S, Neumann M, Fürstenberger G, Hausser I, Stark HJ, Krieg P.

J Invest Dermatol. 2009 Jun;129(6):1429-36. doi: 10.1038/jid.2008.410. Epub 2009 Jan 1.

10.

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G, Brandrup F, Fischer J.

J Invest Dermatol. 2010 Feb;130(2):438-43. doi: 10.1038/jid.2009.346. Epub 2009 Nov 5.

11.

Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.

Nigam S, Zafiriou MP, Deva R, Kerstin N, Geilen C, Ciccoli R, Sczepanski M, Lohse M.

FEBS Lett. 2008 Jan 23;582(2):279-85. Epub 2007 Dec 18.

12.

Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.

Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML.

Arch Dermatol. 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351.

PMID:
18347291
13.

Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation.

Krieg P, Rosenberger S, de Juanes S, Latzko S, Hou J, Dick A, Kloz U, van der Hoeven F, Hausser I, Esposito I, Rauh M, Schneider H.

J Invest Dermatol. 2013 Jan;133(1):172-80. doi: 10.1038/jid.2012.250. Epub 2012 Jul 26.

14.
15.

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E.

Clin Exp Dermatol. 2013 Dec;38(8):911-6. doi: 10.1111/ced.12148. Epub 2013 Apr 26.

PMID:
23621129
16.

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.

Laiho E, Niemi KM, Ignatius J, Kere J, Palotie A, Saarialho-Kere U.

Eur J Hum Genet. 1999 Sep;7(6):625-32.

17.

Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha.

Yu Z, Schneider C, Boeglin WE, Brash AR.

Lipids. 2007 Jun;42(6):491-7. Epub 2007 Apr 14.

PMID:
17436029
18.

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

Krebsová A, Küster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC.

Am J Hum Genet. 2001 Jul;69(1):216-22. Epub 2001 Jun 7.

19.

A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.

Ashoor G, Massé M, García Luciano LM, Sheffer R, Martinez-Mir A, Christiano AM, Zlotogorski A.

Br J Dermatol. 2006 Jul;155(1):198-200. No abstract available.

PMID:
16792775
20.
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk