創薬オミックス解析センター
研究について
家族性心臓伝導障害の遺伝子解析と新規疾患の同定
家族性心臓伝導障害の主要原因遺伝子遺伝子SCN5Aの臨床と遺伝学・電気生理学の融合的研究をきっかけに1, 他の原因遺伝子として
関連研究費:
- ① 文部科学省科学研究費 挑戦的研究(萌芽)(研究代表者 蒔田直昌、H30~R2年度)「ギャップ結合遺伝子異常による心臓刺激伝導障害の新たな分子病態の解明」
関連業績
- Abe K, Machida T, Sumitomo N, Yamamoto H, Ohkubo K, Watanabe I, Makiyama T, Fukae S, Kohno M, Harrell DT, Ishikawa T, Tsuji Y, Nogami A, Watabe T, Oginosawa Y, Abe H, Maemura K, Motomura H, Makita N. Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.
Circ Arrhythm Electrophysiol. 2014;7:511-7. - Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N. Novel mutation in the alpha-myosin heavy chain gene is associated with sick sinus syndrome. Circ Arrhythm Electrophysiol. 2015;8:400-8.
- Ishikawa T, Ohno S, Murakami T, Yoshida K, Mishima H, Fukuoka T, Kimoto H, Sakamoto R, Ohkusa T, Aiba T, Nogami A, Sumitomo N, Shimizu W, Yoshiura KI, Horigome H, Horie M, Makita N. Sick sinus syndrome with
HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.Heart Rhythm . 2017;14:717-724. - Daumy X, Amarouch MY, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A, Kyndt F, Barc J, Le Scouarnec S, Makita N, Le Marec H, Dina C, Gourraud JB, Probst V, Abriel H, Redon R, Schott JJ. Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.
Int J Cardiol . 2016;207:349-358. - 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. A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
Circ Arrhythm Electrophysiol . 2012;5:163-72. - Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau A, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N. Progressive atrial conduction system defects associated with bone malformation caused by a connexin45 mutation.
J Am Coll Cardiol . 2017;70:58-70. - Tamiya R, Sito Y, Fukamachi D, Nagashima K, Aizawa Y, Ohkubo K, Hatta T, Sezai A, Tanaka M, Ishikawa T, Makita N, Sumitomo N, Okumura Y, Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection. ECS Heart Failure, 2020, in press.
最終更新日:2021年09月21日