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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.
Baudic M, Murata H, Bosada FM, Melo US, Aizawa T, Lindenbaum P, van der Maarel LE, Guedon A, Baron E, Fremy E, Foucal A, Ishikawa T, Ushinohama H, Jurgens SJ, Choi SH, Kyndt F, Le Scouarnec S, Wakker V, Thollet A, Rajalu A, Takaki T, Ohno S, Shimizu W, Horie M, Kimura T, Ellinor PT, Petit F, Dulac Y, Bru P, Boland A, Deleuze JF, Redon R, Le Marec H, Le Tourneau T, Gourraud JB, Yoshida Y, Makita N, Vieyres C, Makiyama T, Mundlos S, Christoffels VM, Probst V, Schott JJ, Barc J. Baudic M, et al. Among authors: makiyama t. Nat Commun. 2024 Apr 20;15(1):3380. doi: 10.1038/s41467-024-47739-x. Nat Commun. 2024. PMID: 38643172 Free PMC article.
Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model.
Kashiwa A, Makiyama T, Kohjitani H, Maurissen TL, Ishikawa T, Yamamoto Y, Wuriyanghai Y, Gao J, Huang H, Imamura T, Aizawa T, Nishikawa M, Chonabayashi K, Mishima H, Ohno S, Toyoda F, Sato S, Yoshiura KI, Takahashi K, Yoshida Y, Woltjen K, Horie M, Makita N, Kimura T. Kashiwa A, et al. Among authors: makiyama t. Heart Rhythm. 2023 Jan;20(1):89-99. doi: 10.1016/j.hrthm.2022.08.021. Epub 2022 Aug 23. Heart Rhythm. 2023. PMID: 36007726
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Yamamoto Y, Makiyama T, Harita T, Sasaki K, Wuriyanghai Y, Hayano M, Nishiuchi S, Kohjitani H, Hirose S, Chen J, Yokoi F, Ishikawa T, Ohno S, Chonabayashi K, Motomura H, Yoshida Y, Horie M, Makita N, Kimura T. Yamamoto Y, et al. Among authors: makiyama t. Hum Mol Genet. 2017 May 1;26(9):1670-1677. doi: 10.1093/hmg/ddx073. Hum Mol Genet. 2017. PMID: 28335032
Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Gao J, Makiyama T, Yamamoto Y, Kobayashi T, Aoki H, Maurissen TL, Wuriyanghai Y, Kashiwa A, Imamura T, Aizawa T, Huang H, Kohjitani H, Nishikawa M, Chonabayashi K, Fukuyama M, Manabe H, Nakau K, Wada T, Kato K, Toyoda F, Yoshida Y, Makita N, Woltjen K, Ohno S, Kurebayashi N, Murayama T, Sakurai T, Horie M, Kimura T. Gao J, et al. Among authors: makiyama t. Circ Arrhythm Electrophysiol. 2023 Mar;16(3):e011387. doi: 10.1161/CIRCEP.122.011387. Epub 2023 Mar 3. Circ Arrhythm Electrophysiol. 2023. PMID: 36866681
Patient-Specific Human Induced Pluripotent Stem Cell Model Assessed with Electrical Pacing Validates S107 as a Potential Therapeutic Agent for Catecholaminergic Polymorphic Ventricular Tachycardia.
Sasaki K, Makiyama T, Yoshida Y, Wuriyanghai Y, Kamakura T, Nishiuchi S, Hayano M, Harita T, Yamamoto Y, Kohjitani H, Hirose S, Chen J, Kawamura M, Ohno S, Itoh H, Takeuchi A, Matsuoka S, Miura M, Sumitomo N, Horie M, Yamanaka S, Kimura T. Sasaki K, et al. Among authors: makiyama t. PLoS One. 2016 Oct 20;11(10):e0164795. doi: 10.1371/journal.pone.0164795. eCollection 2016. PLoS One. 2016. PMID: 27764147 Free PMC article.
Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy.
Hayano M, Makiyama T, Kamakura T, Watanabe H, Sasaki K, Funakoshi S, Wuriyanghai Y, Nishiuchi S, Harita T, Yamamoto Y, Kohjitani H, Hirose S, Yokoi F, Chen J, Baba O, Horie T, Chonabayashi K, Ohno S, Toyoda F, Yoshida Y, Ono K, Horie M, Kimura T. Hayano M, et al. Among authors: makiyama t. Circ J. 2017 Nov 24;81(12):1783-1791. doi: 10.1253/circj.CJ-17-0064. Epub 2017 Jun 20. Circ J. 2017. PMID: 28637969 Free article.
196 results