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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: tiesmeier j. Hum Mutat. 2020 Nov;41(11):1931-1943. doi: 10.1002/humu.24096. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32840935
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
Brodehl A, Weiss J, Debus JD, Stanasiuk C, Klauke B, Deutsch MA, Fox H, Bax J, Ebbinghaus H, Gärtner A, Tiesmeier J, Laser T, Peterschröder A, Gerull B, Gummert J, Paluszkiewicz L, Milting H. Brodehl A, et al. Among authors: tiesmeier j. J Mol Cell Cardiol. 2020 Apr;141:17-29. doi: 10.1016/j.yjmcc.2020.03.006. Epub 2020 Mar 19. J Mol Cell Cardiol. 2020. PMID: 32201174 Free article.
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.
Gaertner-Rommel A, Tiesmeier J, Jakob T, Strickmann B, Veit G, Bachmann-Mennenga B, Paluszkiewicz L, Klingel K, Schulz U, Laser KT, Karger B, Pfeiffer H, Milting H. Gaertner-Rommel A, et al. Among authors: tiesmeier j. Mol Genet Genomic Med. 2019 Aug;7(8):e841. doi: 10.1002/mgg3.841. Epub 2019 Jul 10. Mol Genet Genomic Med. 2019. PMID: 31293105 Free PMC article.
The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients: Interim data from the MAP-IT study.
Tiesmeier J, Gaertner A, Homm S, Jakob T, Stanasiuk C, Bachmann-Mennenga B, Henzler D, Grautoff S, Veit G, Hori E, Kellner U, Gummert JF, Hitz MP, Kostareva A, Klingel K, Paluszkiewicz L, Laser KT, Pfeiffer H, Fox H, Milting H. Tiesmeier J, et al. Resuscitation. 2021 Nov;168:176-185. doi: 10.1016/j.resuscitation.2021.07.042. Epub 2021 Aug 10. Resuscitation. 2021. PMID: 34389451 Free article.
31 results