儿童心力衰竭发病机制研究进展

穆珺, 杨世伟, 秦玉明 - 心脏杂志, 2019 - heartj.cn
… of heart failure in pediatric patients in recent years from the aspects of hemodynamic changes,
geneticMutations in sarcomeric protein genes not only lead to cardiomyopathy but also to …

[HTML][HTML] 儿童心肌致密化不全6 例临床表现及基因变异分析

张凤华, 安金斗, 冯嵩, 张小建… - Chinese Journal of …, 2021 - ncbi.nlm.nih.gov
… and gene mutation characteristics of children with noncompaction of the ventricular myocardium
(… NVM-related gene mutations were detected in 4 children, among whom 2 had MYH7 …

肌球蛋白重链基因在人类遗传性疾病中的研究进展

何一旻, 顾鸣敏 - 遗传, 2017 - chinagene.cn
mutations in different genes of the MYH family are associated with various human genetic
DCM),左心室致密化不全(left ventricular non-compaction cardiomyopathy, LVNC)等.其中, HCM …

[HTML][HTML] 家族性肥厚型心肌病患者临床特征及基因突变相关性分析

席湖滔, 杨靖, 孙念, 李小平 - 临床心血管病杂志, 2023 - lcxxg.whuhzzs.com
mutations displayed a notably enlarged left ventricular diameter in comparison to those carrying
MYH7 mutation … electrocardiogram indicates ventricular premature beats and heart color …

一个新的ACTC1 基因5'端剪切位点突变可能在先天性心脏病室间隔缺损发病中起重要作用★

李航, 王彬彬, 高秉仁, 柳江燕, 赵启明, 陈文胜, 王炜… - 中国组织工程研究, 2012 - cjter.com
… ACTC1 is the major component of the sarcomeric thin … Mutation in the alpha-cardiac actin
gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and …

心脏转录因子NKX2. 5 与先天性心脏病的关系

欧阳平, 王森, 刘浩, 林梦飞, 李涛 - Asian Case Reports in Vascular …, 2016 - hanspub.org
… Plenty of studies have reported that NKX2.5 mutations lead to atrial septal defect, ventricular
… .5 mutant proteins have been changed. The expression of the downstream genes regulated …

[HTML][HTML] 遗传和表观遗传机制在先天性心脏病中的研究进展

T Guangfeng, GAO Hui, HU Shasha… - Journal of Zhejiang …, 2018 - ncbi.nlm.nih.gov
… This paper reviews the relationship between chromosomal abnormality, gene mutation, copy
number variation, epigenetic modification and the occurrence of CHD, which may provide a …

心脏肌球蛋白结合蛋白C 的生物信息学分析.

任晨霞, 麻丽霞 - Chinese Journal of Bioinformatics, 2016 - search.ebscohost.com
… and sarcomere components. We analyze the insightful information of MYBPC3 gene and its
protein providing certain … Sar⁃ comere gene mutations in isolated left ventricular noncom⁃ …

[PDF][PDF] 心肌疾病的系统性超声诊断: 基础与临床研究再认识

尹立雪 - 中华医学超声杂志(电子版), 2015 - chaosheng.cma-cmc.com.cn
Mutations in sarcomere protein genes in left ventricular noncompaction [J]. Circulation,
2008… Contrast echocardiography: contribution to diagnosis of left ventricular noncompaction

心肌致密化不全合并弥漫性冠状动脉右室瘘1 例

戴柯, 张志芳, 陈轶维, 李奋, 傅立军, 张玉奇 - 中国循证儿科杂志, 2017 - cjebp.net
Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation, 2008,
117 22 : 2893⁃2901 6 中华医学会儿科学分会心血管学组, 中华儿科杂志编辑委 员会. 儿童心肌…