2012 Fiscal Year Final Research Report
Genetic backgrounds of inherited arrhythmias -disease specific human iPS cells-
| Project/Area Number |
23790848
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Circulatory organs internal medicine
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| Research Institution | Kyoto University |
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Principal Investigator |
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| Project Period (FY) |
2011 – 2012
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| Keywords | 不整脈 / 分子心臓病態学 |
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| Research Abstract |
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disorder characterized by adrenergically mediated ventricular tachyarrhythmias which cause syncope and sudden death without structural heart diseases. We generated disease-specific iPS cells from a patient associated with CPVT. The differentiated cardiomyocytes had an increased susceptibility to catecholamine-induced calcium waves. Our results suggest that the differentiated myocytes from the patient could be a useful model of CPVT enabling us to investigate the disease causing mechanisms and develop new therapies.
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[Journal Article] Ultrastructural Maturation of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes in a Long-Term Culture2013
Author(s)
Kamakura T, Makiyama T, Sasaki K, Yoshida Y , Wuriyanghai Y, Chen J, Hattori T, Ohno S, Kita T, Horie M, Yamanaka S, Kimura T
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Journal Title
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[Journal Article] Long-Term Follow-Up of a Pediatric Cohort With Short QT Syndrome2013
Author(s)
Villafane J, Atallah J, Gollob MH, Maury P, Wolpert C, Gebauer R, Watanabe H, Horie M, Anttonen O, Kannankeril P, Faulknier B, Bleiz J, Makiyama T, Shimizu W, Hamilton R, Young ML.
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Journal Title
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[Journal Article] Novel SCN3B Mutation Associated With Brugada Syndrome Affects Intracellular Trafficking and Function of Nav1.52012
Author(s)
Ishikawa T, Takahashi N, Ohno S, Sakurada H, Nakamura K, On YK, Park JE, Makiyama T, Horie M, Arimura T, Makita N, Kimura A
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Journal Title
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[Journal Article] A novel gain-of-function KCNJ2 mutation associated with short QT syndrome impairs inward rectification of Kir2.1 currents.2012
Author(s)
Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M, Kita T, Horie M, Kimura T.
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Journal Title
Cardiovasc Res
Volume: 93(4)
Pages: 666-73
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[Journal Article] Phenotype variability in patients carrying KCNJ2 mutations2012
Author(s)
Kimura H, Zhou J, Kawamura M, Itoh H, Mizusawa Y, Ding WG, Wu J, Ohno S, Makiyama T, Miyamoto A, Naiki N, Wang Q, Xie Y, Suzuki T, Tateno S, Nakamura Y, Zang WJ, Ito M, Matsuura H, Horie M
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Journal Title
Circ Cardiovasc Genet
Volume: 5(3)
Pages: 344-53
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[Journal Article] Clinical characteristics and risk of arrhythmia recurrences in patients with idiopathic ventricular fibrillation associated with early repolarization.2012
Author(s)
Watanabe H, Nogami A, Ohkubo K, Kawata H, Hayashi Y, Ishikawa T, Makiyama T, Nagao S, Yagihara N, Takehara N, Kawamura Y, Sato A, Okamura K, Hosaka Y, Sato M, Fukae S, Chinushi M, Oda H, Okabe M, Kimura A, Maemura K, Watanabe I, Kamakura S, Horie M, Aizaw
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Journal Title
Int J Cardiol.
Volume: 159(3)
Pages: 238-40
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[Journal Article] A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1currents2012
Author(s)
Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M, Kita T, Horie M, Kimura T.
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Journal Title
Cardiovasc Res
Volume: 93(4)
Pages: 666-73
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[Journal Article] A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.2012
Author(s)
Makita N, Seki A, Sumitomo N, Chkourko H, Fukuhara S, Watanabe H, Shimizu W, Bezzina CR, Hasdemir C, Mugishima H, Makiyama T, Baruteau A, Baron E, Horie M, Hagiwara N, Wilde AA, Probst V, Le Marec H, Roden DM, Mochizuki N, Schott JJ, Delmar M.
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Journal Title
Circ Arrhythm Electrophysiol.
Volume: 5(1)
Pages: 163-72
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[Journal Article] Clinical and electrocardiographic characteristics of patients with short QT interval in a large hospital-based population2012
Author(s)
Miyamoto A, Hayashi H, Yoshino T, Kawaguchi T, Taniguchi A, Itoh H, Sugimoto Y, Itoh M, Makiyama T, XueJQ, Murakami Y, Horie M
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Journal Title
Heart Rhythm.
Volume: 9(1)
Pages: 66-74
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[Journal Article] Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.2011
Author(s)
Watanabe H, Nogami A, Ohkubo K, Kawata H, Hayashi Y, Ishikawa T, Makiyama T, Nagao S, Yagihara N, Takehara N, Kawamura Y, Sato A, Okamura K, Hosaka Y, Sato M, Fukae S, Chinushi M, Oda H, Okabe M, Kimura A, Maemura K, Watanabe I, Kamakura S, Horie M, Aizaw
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Journal Title
Circ Arrhythm Electrophysiol.
Volume: 4(6)
Pages: 874-81
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[Journal Article] A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.2011
Author(s)
DoiT,MakiyamaT,MorimotoT,HarunaY,TsujiK,OhnoS,AkaoM,TakahashiY,KimuraT,HorieM
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Journal Title
Circ Cardiovasc Genet.
Volume: 4(3)
Pages: 253-60
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[Journal Article] KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation2011
Author(s)
Ohno S, Zankov D, Ding W, MakiyamaT, Doi T, Shizuta S, Itoh H, Nishio Y, Hattori T, Matsuura H, Horie M.
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Journal Title
Circ Arrhythm Electrophysiol.
Volume: 4(3)
Pages: 352-61
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