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Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC. Vermeer MCSC, et al. Among authors: kramer d. Exp Dermatol. 2022 Jun;31(6):970-979. doi: 10.1111/exd.14571. Epub 2022 Apr 1. Exp Dermatol. 2022. PMID: 35325485 Free PMC article.
Laboratory diagnosis of paraneoplastic pemphigus.
Poot AM, Diercks GF, Kramer D, Schepens I, Klunder G, Hashimoto T, Borradori L, Jonkman MF, Pas HH. Poot AM, et al. Among authors: kramer d. Br J Dermatol. 2013 Nov;169(5):1016-24. doi: 10.1111/bjd.12479. Br J Dermatol. 2013. PMID: 23796242
The expression pattern of N-acetyltransferase 1 in healthy human skin.
van Amerongen CCA, Kramer D, Pas HH, Schuttelaar MLA. van Amerongen CCA, et al. Among authors: kramer d. Contact Dermatitis. 2021 Jul;85(1):1-6. doi: 10.1111/cod.13821. Epub 2021 Mar 22. Contact Dermatitis. 2021. PMID: 33609293 Free PMC article.
Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.
Bliley JM, Vermeer MCSC, Duffy RM, Batalov I, Kramer D, Tashman JW, Shiwarski DJ, Lee A, Teplenin AS, Volkers L, Coffin B, Hoes MF, Kalmykov A, Palchesko RN, Sun Y, Jongbloed JDH, Bomer N, de Boer RA, Suurmeijer AJH, Pijnappels DA, Bolling MC, van der Meer P, Feinberg AW. Bliley JM, et al. Among authors: kramer d. Sci Transl Med. 2021 Jul 21;13(603):eabd1817. doi: 10.1126/scitranslmed.abd1817. Sci Transl Med. 2021. PMID: 34290054
Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues.
Vermeer MC, Bolling MC, Bliley JM, Arevalo Gomez KF, Pavez-Giani MG, Kramer D, Romero-Herrera PH, Westenbrink BD, Diercks GF, van den Berg MP, Feinberg AW, Silljé HHW, van der Meer P. Vermeer MC, et al. Among authors: kramer d. J Clin Invest. 2021 Jul 22;131(17):e140615. doi: 10.1172/JCI140615. Online ahead of print. J Clin Invest. 2021. PMID: 34292882 Free PMC article.
1,399 results