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Page 1
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. 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.
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.
Yenamandra VK, van den Akker PC, Lemmink HH, Jan SZ, Diercks GFH, Vermeer M, van den Berg MP, van der Meer P, Pasmooij AMG, Sinke RJ, Jonkman MF, Bolling MC. Yenamandra VK, et al. Among authors: vermeer m. Br J Dermatol. 2018 Nov;179(5):1181-1183. doi: 10.1111/bjd.16797. Epub 2018 Aug 14. Br J Dermatol. 2018. PMID: 29779254 No abstract available.
Selenium and outcome in heart failure.
Bomer N, Grote Beverborg N, Hoes MF, Streng KW, Vermeer M, Dokter MM, IJmker J, Anker SD, Cleland JGF, Hillege HL, Lang CC, Ng LL, Samani NJ, Tromp J, van Veldhuisen DJ, Touw DJ, Voors AA, van der Meer P. Bomer N, et al. Eur J Heart Fail. 2020 Aug;22(8):1415-1423. doi: 10.1002/ejhf.1644. Epub 2019 Dec 6. Eur J Heart Fail. 2020. PMID: 31808274 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.
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.
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.
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.
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.
16 results