Hausser I - Search Results

1

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Arin MJ, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, Grimberg G. Arin MJ, et al. Among authors: hausser i. Br J Dermatol. 2011 Feb;164(2):442-7. doi: 10.1111/j.1365-2133.2010.10096.x. Br J Dermatol. 2011. PMID: 21271994

2

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ. Müller FB, et al. Among authors: hausser i. Hum Mol Genet. 2006 Apr 1;15(7):1133-41. doi: 10.1093/hmg/ddl028. Epub 2006 Feb 27. Hum Mol Genet. 2006. PMID: 16505000

3

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.

Grimberg G, Hausser I, Müller FB, Wodecki K, Schaffrath C, Krieg T, Oji V, Traupe H, Arin MJ. Grimberg G, et al. Among authors: hausser i. Br J Dermatol. 2009 Feb;160(2):446-9. doi: 10.1111/j.1365-2133.2008.08831.x. Epub 2008 Sep 15. Br J Dermatol. 2009. PMID: 18795921 No abstract available.

4

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: hausser i. 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

5

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.

Eckl KM, Tidhar R, Thiele H, Oji V, Hausser I, Brodesser S, Preil ML, Onal-Akan A, Stock F, Müller D, Becker K, Casper R, Nürnberg G, Altmüller J, Nürnberg P, Traupe H, Futerman AH, Hennies HC. Eckl KM, et al. Among authors: hausser i. J Invest Dermatol. 2013 Sep;133(9):2202-11. doi: 10.1038/jid.2013.153. Epub 2013 Apr 2. J Invest Dermatol. 2013. PMID: 23549421 Free article.

6

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene.

Terheyden P, Grimberg G, Hausser I, Rose C, Korge BP, Krieg T, Arin MJ. Terheyden P, et al. Among authors: hausser i. J Invest Dermatol. 2009 Nov;129(11):2721-3. doi: 10.1038/jid.2009.131. Epub 2009 May 28. J Invest Dermatol. 2009. PMID: 19474805 Free article. No abstract available.

7

Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile.

Perusquía-Ortiz AM, Oji V, Sauerland MC, Tarinski T, Zaraeva I, Seller N, Metze D, Aufenvenne K, Hausser I, Traupe H. Perusquía-Ortiz AM, et al. Among authors: hausser i. J Eur Acad Dermatol Venereol. 2013 Dec;27(12):1552-8. doi: 10.1111/jdv.12079. Epub 2013 Jan 7. J Eur Acad Dermatol Venereol. 2013. PMID: 23297869

8

Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.

Schlipf NA, Traupe H, Gilaberte Y, Peitsch WK, Hausser I, Oji V, Schmieder A, Schneider SW, Demmer P, Rösler B, Fischer J. Schlipf NA, et al. Among authors: hausser i. Br J Dermatol. 2016 May;174(5):1152-6. doi: 10.1111/bjd.14328. Epub 2016 Feb 18. Br J Dermatol. 2016. PMID: 26617416 No abstract available.

9

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.

Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Among authors: hausser i. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717

10

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V. Hake L, et al. Among authors: hausser i. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):582-591. doi: 10.1111/jdv.17873. Epub 2022 Jan 13. J Eur Acad Dermatol Venereol. 2022. PMID: 34908195

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