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Items: 1 to 20 of 126

1.

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.

2.

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
3.

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.

4.

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.

PMID:
21668430
5.

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

Sugiura K, Akiyama M.

J Dermatol Sci. 2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Review.

PMID:
25982146
6.

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.

7.

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.

8.

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.

9.

Nonsense mutation in the ALOX12B gene leads to autosomal recessive congenital ichthyosis in a Lebanese family.

Kurban M, Shimomura Y, Bahhady R, Ghosn S, Kibbi AG, Christiano AM.

J Eur Acad Dermatol Venereol. 2010 Feb;24(2):232-4. doi: 10.1111/j.1468-3083.2009.03381.x. No abstract available.

PMID:
19694890
11.

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.

PMID:
23621129
12.

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.

13.

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.

PMID:
20222929
14.

Autosomal Recessive Congenital Ichthyosis.

Richard G, Bale SJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2001 Jan 10 [updated 2014 Aug 28].

15.

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
16.
17.

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
18.

Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

Virolainen E, Wessman M, Hovatta I, Niemi KM, Ignatius J, Kere J, Peltonen L, Palotie A.

Am J Hum Genet. 2000 Mar;66(3):1132-7.

19.

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF.

Am J Hum Genet. 2000 Mar;66(3):904-13.

20.

Autosomal recessive congenital ichthyosis.

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

Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Review. English, Spanish.

PMID:
23562412
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