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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.
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
Verkerk AJMH, Andrei D, Vermeer MCSC, Kramer D, Schouten M, Arp P, Verlouw JAM, Pas HH, Meijer HJ, van der Molen M, Oberdorf-Maass S, Nijenhuis M, Romero-Herrera PH, Hoes MF, Bremer J, Slotman JA, van den Akker PC, Diercks GFH, Giepmans BNG, Stoop H, Saris JJ, van den Ouweland AMW, Willemsen R, Hublin JJ, Dean MC, Hoogeboom AJM, Silljé HHW, Uitterlinden AG, van der Meer P, Bolling MC. Verkerk AJMH, et al. Among authors: kramer d. J Invest Dermatol. 2024 Feb;144(2):284-295.e16. doi: 10.1016/j.jid.2023.02.044. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716648 Free 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.
Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity.
Chang YY, van der Velden J, van der Wier G, Kramer D, Diercks GF, van Geel M, Coenraads PJ, Zeeuwen PL, Jonkman MF. Chang YY, et al. Among authors: kramer d. Br J Dermatol. 2012 Nov;167(5):1076-84. doi: 10.1111/j.1365-2133.2012.11175.x. Epub 2012 Oct 5. Br J Dermatol. 2012. PMID: 23039091
1,393 results