Transcriptome analysis aimed to elucidate pathophysiological mechanism of inherited arrhythmias

转录组分析旨在阐明遗传性​​心律失常的病理生理机制

• 批准号: 19K17581
• 负责人: Sonoda Keiko
• 金额: $ 2.75万
• 依托单位: National Cardiovascular Center Research Institute
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Early-Career Scientists
• 财政年份: 2019
• 资助国家: 日本
• 起止时间: 2019-04-01 至 2023-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-19K17581/
• 关键词: 遺伝性不整脈; リード抜去; FFPE; Brugada症候群; RNAシークエンス; トランスクリプトーム解析; ＲＮＡシークエンス; FFPE検体

项目成果

Long-read sequence confirmed a large deletion of MYH6 and MYH7 in a family with atrial septal defect

长读长序列证实房间隔缺损家系中 MYH6 和 MYH7 存在大量缺失

• 发表时间: 2020
• 作者: K. Sonoda;S. Ohno;M. Horie
• 通讯作者: M. Horie

LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy

• DOI: 10.1161/circgen.119.002853
• 发表时间: 2020-10-01
• 期刊: CIRCULATION-GENOMIC AND PRECISION MEDICINE
• 影响因子: 7.4
• 作者: Kato, Koichi;Ohno, Seiko;Horie, Minoru
• 通讯作者: Horie, Minoru

De novo RYR2 mutations are associated with severe phenotype of CPVT more strongly than inherited ones

与遗传性突变相比，新生 RYR2 突变与严重 CPVT 表型的相关性更强

• 发表时间: 2019
• 作者: Keiko Sonoda;Tetsuhisa Hattori;Minoru Horie;Seiko Ohno
• 通讯作者: Seiko Ohno

Association Between Deleterious SCN5A Variants and Ventricular Septal Defect in Young Patients With Brugada Syndrome

有害 SCN5A 变异与年轻 Brugada 综合征患者室间隔缺损之间的关联

• DOI: 10.1016/j.jacep.2022.01.007
• 发表时间: 2022
• 期刊: JACC: Clinical Electrophysiology
• 作者: Suzuki Keisuke;Sonoda Keiko;Aoki Hisaaki;Nakamura Yuko;Watanabe Seiichi;Yoshida Yoko;Hoshino Kenji;Ozawa Junichi;Imamura Tomohiko;Aiba Takeshi;Kato Koichi;Makiyama Takeru;Kusano Kengo;Horie Minoru;Ohno Seiko
• 通讯作者: Ohno Seiko

Copy Number Variation of SCN5A in Sick Sinus Syndrome

病态窦房结综合征中 SCN5A 的拷贝数变异

• 发表时间: 2020
• 作者: Keiko Sonoda;Hisaaki Aoki;Koichiro Takayama;Wang Qi;Dimitar P Zankov; Yoshihide Nakamura;Minoru Horie;Seiko Ohno
• 通讯作者: Seiko Ohno