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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: diercks gf. 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: diercks gf. 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
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. 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.
147 results