Gruber R - Search Results

1

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD. Sandilands A, et al. Among authors: gruber r. Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8. Nat Genet. 2007. PMID: 17417636

2

Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity.

Rice RH, Crumrine D, Uchida Y, Gruber R, Elias PM. Rice RH, et al. Among authors: gruber r. Arch Dermatol Res. 2005 Sep;297(3):127-33. doi: 10.1007/s00403-005-0591-7. Epub 2005 Sep 29. Arch Dermatol Res. 2005. PMID: 16133457

3

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Gruber R, et al. Eur J Hum Genet. 2007 Feb;15(2):179-84. doi: 10.1038/sj.ejhg.5201742. Epub 2006 Dec 13. Eur J Hum Genet. 2007. PMID: 17164798

4

Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders.

Schmuth M, Gruber R, Elias PM, Williams ML. Schmuth M, et al. Among authors: gruber r. Adv Dermatol. 2007;23:231-56. doi: 10.1016/j.yadr.2007.07.011. Adv Dermatol. 2007. PMID: 18159904 Free PMC article. Review.

5

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.

Oji V, Seller N, Sandilands A, Gruber R, Gerss J, Hüffmeier U, Hamm H, Emmert S, Aufenvenne K, Metze D, Luger T, Loser K, Hausser I, Traupe H, McLean WH. Oji V, et al. Among authors: gruber r. Br J Dermatol. 2009 Apr;160(4):771-81. doi: 10.1111/j.1365-2133.2008.08999.x. Epub 2009 Jan 13. Br J Dermatol. 2009. PMID: 19183181

6

Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.

Gruber R, Wilson NJ, Smith FJ, Grabher D, Steinwender L, Fritsch PO, Schmuth M. Gruber R, et al. Br J Dermatol. 2009 Dec;161(6):1391-5. doi: 10.1111/j.1365-2133.2009.09471.x. Epub 2009 Sep 28. Br J Dermatol. 2009. PMID: 19785597

7

Epidermal barrier dysfunction in non-atopic HIV: evidence for an "inside-to-outside" pathogenesis.

Gunathilake R, Schmuth M, Scharschmidt TC, Gruber R, Grabher D, Leslie KS, Maurer TA, Mauro TM, Elias PM. Gunathilake R, et al. Among authors: gruber r. J Invest Dermatol. 2010 Apr;130(4):1185-8. doi: 10.1038/jid.2009.367. Epub 2009 Nov 19. J Invest Dermatol. 2010. PMID: 19924137 Free PMC article. No abstract available.

8

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR. Dündar M, et al. Among authors: gruber r. Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010. Am J Hum Genet. 2009. PMID: 20004762 Free PMC article.

9

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis.

Gruber R, Janecke AR, Grabher D, Sandilands A, Fauth C, Schmuth M. Gruber R, et al. J Dermatol Sci. 2010 Apr;58(1):72-5. doi: 10.1016/j.jdermsci.2010.01.002. Epub 2010 Jan 28. J Dermatol Sci. 2010. PMID: 20149601 No abstract available.

10

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

Gruber R, Janecke AR, Grabher D, Horak E, Schmuth M, Lercher P. Gruber R, et al. Wien Klin Wochenschr. 2010 Oct;122(19-20):551-7. doi: 10.1007/s00508-010-1449-3. Epub 2010 Sep 27. Wien Klin Wochenschr. 2010. PMID: 20865458

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