Schmuth M - Search Results

1

Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.

Eckl KM, Gruber R, Brennan L, Marriott A, Plank R, Moosbrugger-Martinz V, Blunder S, Schossig A, Altmüller J, Thiele H, Nürnberg P, Zschocke J, Hennies HC, Schmuth M. Eckl KM, et al. Among authors: schmuth m. Front Genet. 2021 Jul 12;12:689940. doi: 10.3389/fgene.2021.689940. eCollection 2021. Front Genet. 2021. PMID: 34322157 Free PMC article.

2

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. Among authors: schmuth m. 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

3

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. Adv Dermatol. 2007;23:231-56. doi: 10.1016/j.yadr.2007.07.011. Adv Dermatol. 2007. PMID: 18159904 Free PMC article. Review.

4

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. Among authors: schmuth m. 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

5

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. Among authors: schmuth m. 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

6

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WH, Fritsch PO, Mildner M, Tschachler E, Schmuth M. Gruber R, et al. Among authors: schmuth m. Am J Pathol. 2011 May;178(5):2252-63. doi: 10.1016/j.ajpath.2011.01.053. Am J Pathol. 2011. PMID: 21514438 Free PMC article.

7

An appraisal of oral retinoids in the treatment of pachyonychia congenita.

Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M. Gruber R, et al. Among authors: schmuth m. J Am Acad Dermatol. 2012 Jun;66(6):e193-9. doi: 10.1016/j.jaad.2011.02.003. Epub 2011 May 24. J Am Acad Dermatol. 2012. PMID: 21601946

8

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.

Gruber R, Hennies HC, Romani N, Schmuth M. Gruber R, et al. Among authors: schmuth m. Arch Dermatol. 2011 Jun;147(6):748-50. doi: 10.1001/archdermatol.2011.138. Arch Dermatol. 2011. PMID: 21690549 No abstract available.

9

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, Gruber R. Schmuth M, et al. Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27. Eur J Hum Genet. 2013. PMID: 22739337 Free PMC article. Review.

10

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

Gruber R, Schossig AS, Alnutaifi KA, Martinz V, Blunder S, Zschocke J, Schmuth M, Tinschert S. Gruber R, et al. Among authors: schmuth m. J Dtsch Dermatol Ges. 2013 Oct;11(10):1023-5. doi: 10.1111/ddg.12116. Epub 2013 May 13. J Dtsch Dermatol Ges. 2013. PMID: 23668231 No abstract available.

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