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Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations.
Le Dour C, Chatzifrangkeskou M, Macquart C, Magiera MM, Peccate C, Jouve C, Virtanen L, Heliö T, Aalto-Setälä K, Crasto S, Cadot B, Cardoso D, Mougenot N, Adesse D, Di Pasquale E, Hulot JS, Taimen P, Janke C, Muchir A. Le Dour C, et al. Nat Commun. 2022 Dec 22;13(1):7886. doi: 10.1038/s41467-022-35639-x. Nat Commun. 2022. PMID: 36550158 Free PMC article.
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, Melin J, Nieminen MS, Laakso M, Kuusisto J; FinHCM study group; Kervinen H, Mustonen J, Juvonen J, Niemi M, Uusimaa P, Huttunen M, Kotila M, Pietilä M. Jääskeläinen P, et al. Ann Med. 2013 Feb;45(1):85-90. doi: 10.3109/07853890.2012.671534. Epub 2012 Apr 2. Ann Med. 2013. PMID: 22462493 Free article.
A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, Melin J, Kärkkäinen S, Peuhkurinen K, Nieminen MS, Laakso M; FinHCM Study Group; Kuusisto J. Jääskeläinen P, et al. Ann Med. 2014 Sep;46(6):424-9. doi: 10.3109/07853890.2014.912834. Epub 2014 Jun 3. Ann Med. 2014. PMID: 24888384 Free article.
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P, Vangipurapu J, Raivo J, Kuulasmaa T, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Vanninen S, Hämäläinen L, Melin J, Kokkonen J, Nieminen MS; FinHCM Study Group; Laakso M, Kuusisto J. Jääskeläinen P, et al. ESC Heart Fail. 2019 Apr;6(2):436-445. doi: 10.1002/ehf2.12420. Epub 2019 Feb 18. ESC Heart Fail. 2019. PMID: 30775854 Free PMC article.
170 results