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Items: 13

1.
2.

Structural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function.

Rorke EA, Adhikary G, Young CA, Rice RH, Elias PM, Crumrine D, Meyer J, Blumenberg M, Eckert RL.

Cell Death Dis. 2015 Feb 19;6:e1647. doi: 10.1038/cddis.2015.21.

3.

Ichthyosis with confetti: a rare diagnosis and treatment plan.

Long MC.

BMJ Case Rep. 2014 Jul 10;2014. pii: bcr2014204509. doi: 10.1136/bcr-2014-204509.

4.

Targeting epidermal lipids for treatment of Mendelian disorders of cornification.

Kiritsi D, Schauer F, Wölfle U, Valari M, Bruckner-Tuderman L, Has C, Happle R.

Orphanet J Rare Dis. 2014 Mar 7;9:33. doi: 10.1186/1750-1172-9-33.

5.

Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

Elias PM, Williams ML, Choi EH, Feingold KR.

Biochim Biophys Acta. 2014 Mar;1841(3):353-61. doi: 10.1016/j.bbalip.2013.11.009. Epub 2013 Nov 27. Review.

6.

Oral liarozole in the treatment of patients with moderate/severe lamellar ichthyosis: results of a randomized, double-blind, multinational, placebo-controlled phase II/III trial.

Vahlquist A, Blockhuys S, Steijlen P, van Rossem K, Didona B, Blanco D, Traupe H.

Br J Dermatol. 2014 Jan;170(1):173-81. doi: 10.1111/bjd.12626.

7.

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, Gruber R.

Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27. Review.

8.

X-linked ichthyosis along with epidermolysis bullosa.

Pallagatti S, Sheikh S, Kaur A, Aggarwal A, Singh R.

Contemp Clin Dent. 2012 Apr;3(Suppl 1):S96-8. doi: 10.4103/0976-237X.95115.

9.

Ichthyotic skin disorders in the neonate.

Rimoin L, Graham JM Jr.

Clin Pediatr (Phila). 2012 Aug;51(8):796-800. doi: 10.1177/0009922811430348. Epub 2012 Apr 22. No abstract available.

10.

Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.

Aufenvenne K, Rice RH, Hausser I, Oji V, Hennies HC, Rio MD, Traupe H, Larcher F.

J Invest Dermatol. 2012 Jul;132(7):1918-21. doi: 10.1038/jid.2012.65. Epub 2012 Mar 22. No abstract available.

11.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR.

J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.

12.

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M.

J Lipid Res. 2008 Apr;49(4):697-714. doi: 10.1194/jlr.R800002-JLR200. Epub 2008 Feb 2. Review.

13.

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N.

J Med Genet. 2007 Oct;44(10):615-20. Epub 2007 Jun 8.

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