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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. 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: vermeer mcsc. 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.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC. Vermeer MCSC, et al. Br J Dermatol. 2022 Dec;187(6):1045-1048. doi: 10.1111/bjd.21832. Epub 2022 Sep 9. Br J Dermatol. 2022. PMID: 35975634 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: vermeer mcsc. Sci Transl Med. 2021 Jul 21;13(603):eabd1817. doi: 10.1126/scitranslmed.abd1817. Sci Transl Med. 2021. PMID: 34290054
Clinical Outcome in KLHL24 Cardiomyopathy.
Vermeer MCSC, Arevalo Gomez KF, Hoes MF, Tromp J, Verdonschot JAJ, Henkens MTHM, Silljé HHW, Bolling MC, van der Meer P. Vermeer MCSC, et al. Circ Genom Precis Med. 2023 Aug;16(4):401-403. doi: 10.1161/CIRCGEN.122.003998. Epub 2023 May 16. Circ Genom Precis Med. 2023. PMID: 37191012 Free PMC article. No abstract available.
Evaluation of Senescence and Its Prevention in Doxorubicin-Induced Cardiotoxicity Using Dynamic Engineered Heart Tissues.
Linders AN, Dias IB, Ovchinnikova ES, Vermeer MCSC, Hoes MF, Markousis Mavrogenis G, Deiman FE, Arevalo Gomez KF, Bliley JM, Nehme J, Vink A, Gietema J, de Boer RA, Westenbrink D, Sillje HHW, Hilfiker-Kleiner D, van Laake LW, Feinberg AW, Demaria M, Bomer N, van der Meer P. Linders AN, et al. Among authors: vermeer mcsc. JACC CardioOncol. 2023 May 16;5(3):298-315. doi: 10.1016/j.jaccao.2023.03.012. eCollection 2023 Jun. JACC CardioOncol. 2023. PMID: 37397084 Free PMC article.
11 results