Exploring mutated genes and its function in congenital heart disease

探索先天性心脏病中的突变基因及其功能

• 批准号: 22591181
• 负责人: HIGAKI Takashi
• 金额: $ 2.66万
• 依托单位: Ehime University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2010
• 资助国家: 日本
• 起止时间: 2010 至 2012
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-22591181/
• 关键词: 小児循環器学; 先天性心疾患; 遺伝子異常; FLK1陽性細胞; 心筋; MLPA法

To identify the gene mutations responsible for the cardiac malformations in congenital heart diseases, pieces of cardiac tissue excised from patients during cardiac surgery were analyzed for the presence of mutations in genes involved in cardiac development. Direct sequencing analysis of several candidate genes such as TBX1 and ISL1 failed to discover any disease-causing mutations in all the genes examined so far. Circulating FLK1-positive cells in peripheral blood, which are mobilized from the bone marrow after endothelial cell injury, such as catheter intervention, could be a substitute for cardiac cells because both cells originate from the mesodermal FLK1-positive cells during fetal development. Mutational analyses with peripheral FLK1-positive cells of patients whose cardiac tissue are not obtainable are now ongoing.

为了确定导致先天性心脏病心脏畸形的基因突变，分析了在心脏手术期间从患者身上切除的心脏组织碎片中是否存在涉及心脏发育的基因突变。对TBX1和ISL1等几个候选基因的直接测序分析未能在迄今为止检查的所有基因中发现任何致病突变。外周血中的循环 FLK1 阳性细胞在内皮细胞损伤（例如导管干预）后从骨髓中动员出来，可以替代心肌细胞，因为这两种细胞都源自胎儿发育过程中的中胚层 FLK1 阳性细胞。目前正在对无法获得心脏组织的患者的外周 FLK1 阳性细胞进行突变分析。

项目成果

Novel dominant-negative mutant of GATA3 in HDR syndrome

• DOI: 10.1007/s00109-010-0702-6
• 发表时间: 2011-01-01
• 期刊: JOURNAL OF MOLECULAR MEDICINE-JMM
• 影响因子: 4.7
• 作者: Ohta, Masaaki;Eguchi-Ishimae, Minenori;Ishii, Eiichi
• 通讯作者: Ishii, Eiichi

Successful introduction of interventional catheterization and other pediatric cardiology services in a developing country.

在发展中国家成功引入介入导管插入术和其他儿科心脏病学服务。

• DOI: 10.1017/s104795111200100x
• 发表时间: 2013
• 期刊: Cardiol Young
• 影响因子: 1
• 作者: Kanezaki R;et al.;Hideshi Tomita
• 通讯作者: Hideshi Tomita

Use of a hand-made balloon-expandable covered stent for native coarctation of the aorta in an adult patient: a report of a first case in Japan

使用手工球囊扩张覆膜支架治疗成年患者主动脉自然缩窄：日本首例病例报告

• 发表时间: 2010
• 期刊: J Cardiol
• 影响因子: 2.5
• 作者: Higaki;T.;E. Yamamoto;M. Ryugo;H. Imagawa;F. Shikata;M. Nagashima;M. Ohta;H. Takata;K. Murao;T. Chisaka;T. Moritani;R. Watanabe;H. Tomita;K. Kawachi and E. Ishii
• 通讯作者: K. Kawachi and E. Ishii

The use of a handmade balloon-expandable covered stent for native coarctation of the aorta in an adult patient : A report of a first case in Japan

使用手工制作的球囊扩张覆膜支架治疗成年患者的主动脉自然缩窄：日本首例病例报告

• 发表时间: 2010
• 期刊: J Cardiol
• 影响因子: 2.5
• 作者: Nishio H;Kanno S;Onoyama S;Ikeda K;Tanaka T;Kusuhara K;Fujimoto Y;Fukase K;Sueishi K;Hara T;Higaki Takashi
• 通讯作者: Higaki Takashi

Noncompaction of Myocardium in Neonate

新生儿心肌致密化不全

• 作者: 山本雅樹;脇口宏;他.;高田秀実
• 通讯作者: 高田秀実