蒔田直昌 (Naomasa Makita) - 論文

Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Jingshan Gao, Takeru Makiyama, Yuta Yamamoto, Takuya Kobayashi, Hisaaki Aoki, Thomas L Maurissen, Yimin Wuriyanghai, Asami Kashiwa, Tomohiko Imamura, Takanori Aizawa …

Circulation. Arrhythmia and electrophysiology 16(3) e011387 2023年3月3日査読有り

Targeted deep sequencing analyses of long QT syndrome in a Japanese population.

Yuki Nagata, Ryo Watanabe, Christian Eichhorn, Seiko Ohno, Takeshi Aiba, Taisuke Ishikawa, Yukiko Nakano, Yoshiyasu Aizawa, Kenshi Hayashi, Nobuyuki Murakoshi …

PloS one 17(12) e0277242 2022年12月8日査読有り

Progressive atrial myocardial fibrosis in a 4-year-old girl with atrial standstill associated with an SCN5A gene mutation.

Yoshiaki Kato, Yoshihiro Nozaki, Miho Takahashi-Igari, Masato Sugano, Naomasa Makita, Hitoshi Horigome

HeartRhythm case reports 8(9) 636-638 2022年9月

Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model.

Asami Kashiwa, Takeru Makiyama, Hirohiko Kohjitani, Thomas L Maurissen, Taisuke Ishikawa, Yuta Yamamoto, Yimin Wuriyanghai, Jingshan Gao, Hai Huang, Tomohiko Imamura …

Heart rhythm 20(1) 89-99 2022年8月22日

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.

Haruka Murakami, Yoko Tanimoto, Kojiro Tanimoto, Satomi Inoue, Taisuke Ishikawa, Naomasa Makita, Kazuki Yamazawa

Human genome variation 9(1) 28-28 2022年8月8日

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Back Sternick Eduardo, Héctor Barajas-Martinez, Elijah R Behr, Connie R Bezzina …

Journal of arrhythmia 38(4) 491-553 2022年8月

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Eduardo Back Sternick, Héctor Barajas-Martinez, Elijah R Behr, Connie R Bezzina …

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 24(8) 1307-1367 2022年4月4日

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases.

Arthur A M Wilde, Christopher Semsarian, Manlio F Márquez, Alireza Sepehri Shamloo, Michael J Ackerman, Euan A Ashley, Eduardo Back Sternick, Héctor Barajas-Martinez, Elijah R Behr, Connie R Bezzina …

Heart rhythm 19(7) e1-e60 2022年4月4日

洞不全症候群を伴う遺伝性心臓突然死症候群の新しいメカニズム PITX2-ANK2間の遺伝子間欠失によるクロマチン構造の乱れ(A Novel Mechanism of Inherited Sudden Cardiac Death Syndrome with Sinus Node Dysfunction: Intergenic Deletion between PITX2-ANK2 Disrupts Chromatin Structure)

村田広茂, 蒔田直昌, 牧山武, 清水渉

日本循環器学会学術集会抄録集 86回 MPJ18-3 2022年3月

Gao Jingshan, Makiyama Takeru, Yamamoto Yuta, Kashiwa Asami, Imamura Tomohiko, Aizawa Takanori, Kohjitani Hirohiko, Kato Koichi, Ohno Seiko, Horie Minoru …

日本循環器学会学術集会抄録集 86回 OE18-6 2022年3月

A Novel Mechanism of Inherited Sudden Cardiac Death Syndrome with Sinus Node Dysfunction: Intergenic Deletion between PITX2-ANK2 Disrupts Chromatin Structure(和訳中)

村田広茂, 蒔田直昌, 牧山武, 清水渉

日本循環器学会学術集会抄録集 86回 MPJ18-3 2022年3月

Electrocardiographic Diagnosis of Hypertrophic Cardiomyopathy in the Pre- and Post-Diagnostic Phases in Children and Adolescents.

Masao Yoshinaga, Hitoshi Horigome, Mamoru Ayusawa, Kazushi Yasuda, Shigetoyo Kogaki, Shozaburo Doi, Sigeru Tateno, Kunio Ohta, Tatsunori Hokosaki, Eiki Nishihara …

Circulation journal : official journal of the Japanese Circulation Society 86(1) 118-127 2021年12月24日査読有り

ヒトiPS細胞モデルを用いた遺伝性不整脈疾患の基礎研究診断、発症機序解明、新規治療法開発

牧山武, 山本雄大, 吉永大介, 廣瀬紗也子, 相澤卓範, 柏麻美, 高景山, 今村知彦, 黄海, 糀谷泰彦 …

循環器内科 90(4) 483-490 2021年10月

Rotors anchored by refractory islands drive torsades de pointes in an experimental model of electrical storm

Masatoshi Yamazaki, Naoki Tomii, Koichi Tsuneyama, Hiroki Takanari, Ryoko Niwa, Haruo Honjo, Itsuo Kodama, Tatsuhiko Arafune, Naomasa Makita, Ichiro Sakuma …

Heart Rhythm 19(2) 318-329 2021年10月査読有り

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

Taisuke Ishikawa, Hiroki Kimoto, Hiroyuki Mishima, Kenichiro Yamagata, Soshiro Ogata, Yoshiyasu Aizawa, Kenshi Hayashi, Hiroshi Morita, Tadashi Nakajima, Yukiko Nakano …

European Heart Journal 42(29) 2854-2863 2021年7月31日査読有り最終著者責任著者

Estimating the Post-Test Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.

Krystian Kozek, Yuko Wada, Luca Sala, Isabelle Denjoy, Christian Egly, Matthew J O'Neill, Takeshi Aiba, Wataru Shimizu, Naomasa Makita, Taisuke Ishikawa …

Circulation. Genomic and precision medicine 14(4) e003289 2021年7月26日

Novel electrocardiographic criteria for short QT syndrome in children and adolescents

Hiroshi Suzuki, Minoru Horie, Junichi Ozawa, Naokata Sumitomo, Seiko Ohno, Kenji Hoshino, Eiji Ehara, Kazuhiro Takahashi, Yoshichika Maeda, Masao Yoshinaga …

EP Europace 23(12) 2029-2038 2021年6月28日査読有り

Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation.

Hiroaki Kawano, Koichi Kawamura, Masaki Kohno, Mitsuaki Ishijima, Satoki Fukae, Taisuke Ishikawa, Naomasa Makita, Koji Maemura

Medical molecular morphology 54(3) 259-264 2021年3月2日

オリゴヌクレオチドを用いたcalmodulinopathyに対する治療法の開発(Development of an Oligonucleotide-Based Therapeutic Approach for Calmodulinopathy)

Makiyama Takeru, Yamamoto Yuta, Kondoh Yoshiki, Gao Jingshan, Kashiwa Asami, Aizawa Takanori, Imamura Tomohiko, Huang Hai, Kohjitani Hirohiko, Ishikawa Taisuke …

日本循環器学会学術集会抄録集 85回 PL07-2 2021年3月

遺伝性不整脈に対するオーダーメイド医療の現在の概観 iPS細胞を用いたリアノジン受容体遺伝子異常による遺伝性不整脈のモデリング(Current Perspective on Precision Medicine of Inherited Arrhythmias Modeling Inherited Arrhythmias Associated with Ryanodine Receptor Dysfunction Using iPS Cells)

Makiyama Takeru, Gao Jingshan, Yamamoto Yuta, Kashiwa Asami, Aizawa Takanori, Imamura Tomohiko, Huang Hai, Kohjitani Hirohiko, Kato Kouichi, Ishikawa Taisuke …

日本循環器学会学術集会抄録集 85回 SY06-3 2021年3月

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