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Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
Abdelfatah N, Chen R, Duff HJ, Seifer CM, Buffo I, Huculak C, Clarke S, Clegg R, Jassal DS, Gordon PMK, Ober C; Care4Rare Canada Consortium; Frosk P, Gerull B. Abdelfatah N, et al. Among authors: chen r. JACC Basic Transl Sci. 2019 Apr 29;4(2):204-221. doi: 10.1016/j.jacbts.2018.12.001. eCollection 2019 Apr. JACC Basic Transl Sci. 2019. PMID: 31061923 Free PMC article.
Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff HJ, Ergün S, Gerull B. Janz A, et al. Among authors: chen r. Stem Cell Res. 2020 Jul;46:101856. doi: 10.1016/j.scr.2020.101856. Epub 2020 Jun 2. Stem Cell Res. 2020. PMID: 32521499 Free article.
Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy.
Chen R, Buchmann S, Kroth A, Arias-Loza AP, Kohlhaas M, Wagner N, Grüner G, Nickel A, Cirnu A, Williams T, Maack C, Ergün S, Frantz S, Gerull B. Chen R, et al. Circ Res. 2023 Jan 20;132(2):e43-e58. doi: 10.1161/CIRCRESAHA.122.321929. Epub 2023 Jan 4. Circ Res. 2023. PMID: 36656972 Free article.
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