Investigation into modifying factors in patients with hypertrophic cardiomyopathy caused by an identical disease-causing mutation

由相同致病突变引起的肥厚型心肌病患者的修饰因素调查

• 批准号: 20790533
• 负责人: KUBO Toru
• 金额: $ 1.58万
• 依托单位: Kochi University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20790533/
• 关键词: 臨床心血管病態学; 肥大型心筋症; 遺伝子; 臨床

I investigated the genotype-phenotype correlations in hypertrophic cardiomyopathy (HCM). In genetic analysis, I reported some mutations associated with HCM, particularly mutations in cardiac myosin-binding protein C gene. In the studies of clinical phenotype in HCM, I focused on the left ventricular remodeling of this disease and reported several results including the usefulness of biomarkers for predicting the prognosis.

我调查了肥厚型心肌病（HCM）的基因型-表型相关性。在基因分析方面，我报道了一些与HCM相关的突变，特别是心肌肌球蛋白结合蛋白C基因的突变。在HCM临床表型的研究中，我着重于HCM的左心室重构，并报道了一些结果，包括生物标志物对预测预后的有用性。

项目成果

Gender differences in the clinical features of hypertrophic cardiomyopathy in an unselected regional Japanese population : Results from Kochi RYOMA study

未经选择的日本地区人群肥厚型心肌病临床特征的性别差异：高知 RYOMA 研究结果

• 发表时间: 2009
• 作者: Washio;I;久保亨
• 通讯作者: 久保亨

A case report : hemolytic anemia in a patient with hypertrophic obstructive cardiomyopathy

病例报告：肥厚型梗阻性心肌病患者溶血性贫血

• 发表时间: 2009
• 期刊: Journal of Cardiology (印刷中)
• 作者: KuboT;Kitaoka H;Terauchi Y;et al.
• 通讯作者: et al.

Clinical profiles of hypertrophic cardiomyopathy with apical phenotype : comparison of pure-apical from and distal-dominant form

具有心尖表型的肥厚型心肌病的临床特征：纯心尖型和远端显性型的比较

• 发表时间: 2009
• 作者: Ikeda S;et al;Kitaoka H;Kitaoka H;久保亨;Kitaoka H;Kubo T;Kubo T;Okawa M;久保亨
• 通讯作者: 久保亨

Impact of Metalloproteinases on Left Ventricular Remodeling and Heart Failure Events in Patients With Hypertrophic Cardiomyopathy

• DOI: 10.1253/circj.cj-09-1013
• 发表时间: 2010-06-01
• 期刊: CIRCULATION JOURNAL
• 影响因子: 3.3
• 作者: Kitaoka, Hiroaki;Kubo, Toru;Doi, Yoshinori L.
• 通讯作者: Doi, Yoshinori L.

A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy.

• DOI: 10.1016/j.jjcc.2010.04.003
• 发表时间: 2010-09
• 期刊: Journal of cardiology
• 影响因子: 2.5
• 作者: N. Hitomi;T. Kubo;H. Kitaoka;Takayoshi Hirota;T. Hamada;Eri Hoshikawa;Kayo Hayato;M. Okawa;A. Kimura;Y. Doi