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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: blunder s. 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.
Role of PPAR, LXR, and PXR in epidermal homeostasis and inflammation.
Schmuth M, Moosbrugger-Martinz V, Blunder S, Dubrac S. Schmuth M, et al. Among authors: blunder s. Biochim Biophys Acta. 2014 Mar;1841(3):463-73. doi: 10.1016/j.bbalip.2013.11.012. Epub 2013 Dec 3. Biochim Biophys Acta. 2014. PMID: 24315978 Review.
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. Among authors: blunder s. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R. Seidl-Philipp M, et al. Among authors: blunder s. J Dtsch Dermatol Ges. 2020 Jan;18(1):17-25. doi: 10.1111/ddg.13968. Epub 2019 Oct 23. J Dtsch Dermatol Ges. 2020. PMID: 31642606
Targeted gene expression analyses and immunohistology suggest a pro-proliferative state in tricuspid aortic valve-, and senescence and viral infections in bicuspid aortic valve-associated thoracic aortic aneurysms.
Blunder S, Messner B, Scharinger B, Doppler C, Zeller I, Zierer A, Laufer G, Bernhard D. Blunder S, et al. Atherosclerosis. 2018 Apr;271:111-119. doi: 10.1016/j.atherosclerosis.2018.02.007. Epub 2018 Feb 5. Atherosclerosis. 2018. PMID: 29486395
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