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Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.
Fomin A, Gärtner A, Cyganek L, Tiburcy M, Tuleta I, Wellers L, Folsche L, Hobbach AJ, von Frieling-Salewsky M, Unger A, Hucke A, Koser F, Kassner A, Sielemann K, Streckfuß-Bömeke K, Hasenfuss G, Goedel A, Laugwitz KL, Moretti A, Gummert JF, Dos Remedios CG, Reinecke H, Knöll R, van Heesch S, Hubner N, Zimmermann WH, Milting H, Linke WA. Fomin A, et al. Among authors: kassner a. Sci Transl Med. 2021 Nov 3;13(618):eabd3079. doi: 10.1126/scitranslmed.abd3079. Epub 2021 Nov 3. Sci Transl Med. 2021. PMID: 34731013
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
Klauke B, Gaertner-Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, Kececioglu D, Paluszkiewicz L, Blanz U, Sandica E, van den Bogaerdt AJ, van Tintelen JP, Gummert J, Milting H. Klauke B, et al. Among authors: kassner a. PLoS One. 2017 Dec 18;12(12):e0189489. doi: 10.1371/journal.pone.0189489. eCollection 2017. PLoS One. 2017. PMID: 29253866 Free PMC article.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A, Klauke B, Felski E, Kassner A, Brodehl A, Gerdes D, Stanasiuk C, Ebbinghaus H, Schulz U, Dubowy KO, Tiesmeier J, Laser KT, Bante H, Bergau L, Sommer P, Fox H, Morshuis M, Gummert J, Milting H. Gaertner A, et al. Among authors: kassner a. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
Cardiomyocyte Hypertrophy in Arrhythmogenic Cardiomyopathy.
Gerçek M, Gerçek M, Kant S, Simsekyilmaz S, Kassner A, Milting H, Liehn EA, Leube RE, Krusche CA. Gerçek M, et al. Among authors: kassner a. Am J Pathol. 2017 Apr;187(4):752-766. doi: 10.1016/j.ajpath.2016.12.018. Epub 2017 Feb 7. Am J Pathol. 2017. PMID: 28183531 Free article.
118 results