日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy

心肌肌钙蛋白I3(TNNI3)的纯合变异会导致严重的儿童限制性心肌病。

Kühnisch, Jirko; Barnett, Cara L; Brendel, Josephine; Berklite, Lara; Villa, Chet; Seifert, Wenke; Klaassen, Sabine; Klingel, Karin; Weaver, K Nicole

A de novo TNNI3K variant aggravates the pathogenicity of DMD-associated early-onset cardiomyopathy: a case report

一种新发TNNI3K变异加重DMD相关早发性心肌病的致病性:病例报告

Qie, Di; Zhai, Yang; Yang, Fan; Li, Yifei; Xu, Rong

Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy

探索TNNI3基因中的c.406 C > T变异:限制性心肌病的致病机制

Masoumi, Tannaz; Hesami, Hamed; Maleki, Majid; Kalayinia, Samira

Clockwise bundle branch re-entrant ventricular tachycardia in a teenage patient as the first manifestation of dilated cardiomyopathy associated with the p.Ile512Leu TNNI3k variant: a case report

青少年患者以顺时针束支折返性室性心动过速为首发表现,并伴有p.Ile512Leu TNNI3k变异的扩张型心肌病:病例报告

González-Quijano, Marta; Acosta, Juan; Frutos-López, Manuel; Arana-Rueda, Eduardo; Pedrote, Alonso

[Dilated cardiomyopathy and conduction disorder due to TNNI3K mutation]

[TNNI3K 基因突变引起的扩张型心肌病和传导障碍]

Gayán-Ordás, Jara; Valverde-Gómez, María; Bascompte-Claret, Ramón; Sánchez-Flores, María; López-Ortega, Ricard; Pablo-Ochoa, Juan

Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in Patients.

人类 iPSC-心肌细胞中 TNNI3 变异表型的多参数评估与患者疾病严重程度相关。

Staudt David W, Tran Peter Pq, Floyd Brendan J, Dunn Kyla, Han Dongju, Carhuamaca Xiomara, Serrano Ricardo, Hnatiuk Anna P, Bang Seyun, Parikh Victoria N, Ashley Euan A, Mercola Mark

Decreased intranuclear cardiac troponin I impairs cardiac autophagy through FOS/ATG5 in ageing hearts

衰老心脏中核内心肌肌钙蛋白I减少通过FOS/ATG5途径损害心肌自噬

Rui Min Liu,Shan Huang,Di Hu,Lingjuan Liu,Hui Chao Sun,Jie Tian,Bo Pan

Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant

儿童限制性心肌病中体外膜肺氧合(ECMO)应用的挑战:一例新型TNNI3变异体的病例报告

Jin, Yuxi; Xu, Juan; Hua, Yimin; Zhang, Haiyang; Li, Yifei

Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I gene (TNNI3) in a patient

病例报告:一例由肌钙蛋白I基因(TNNI3)罕见突变引起的限制性心肌病患者

Deng, Lili; Luo, Liming; Zhang, Min; Guo, Cheng; Liu, Kai

Gene correction and overexpression of TNNI3 improve impaired relaxation in engineered heart tissue model of pediatric restrictive cardiomyopathy

基因校正和TNNI3过表达可改善儿童限制性心肌病工程化心脏组织模型中的舒张功能障碍

Moyu Hasegawa ,Kenji Miki ,Takuji Kawamura ,Ikue Takei Sasozaki ,Yuki Higashiyama ,Masaru Tsuchida ,Kunio Kashino ,Masaki Taira ,Emiko Ito ,Maki Takeda ,Hidekazu Ishida ,Shuichiro Higo ,Yasushi Sakata ,Shigeru Miyagawa