Tnni3k regulates cardiomyopathy and cardiac conduction disease through Nfatc1 signaling  

作　　者：Shi Ouyang Yujuan Niu Le Liu Qiaorong Yi Wuming Qin Hui Cao Tao Liao Rong Xiang Yonghe Ding Yun Deng 

机构地区：[1]State Key Laboratory of Developmental Biology of Freshwater Fish,Hunan Normal University,Changsha,Hunan 410081,China [2]Laboratory of Zebrafish Genetics,College of Life Sciences,Hunan Normal University,Changsha,Hunan 410081,China [3]The Affiliated Hospital of Qingdao University,Qingdao University,Qingdao,Shandong 266071,China [4]The Biomedical Sciences Institute of Qingdao University(Qingdao Branch of SJTU Bio-X Institute),Qingdao University,Qingdao,Shandong 266071,China [5]NHC Key Laboratory of Birth Defect for Research and Prevention,Hunan Provincial Maternal and Child Health Care Hospital,Changsha,Hunan 410028,China [6]Development of Cell Biology,The School of Life Sciences,Central South University,Changsha,Hunan 410083,China

出　　处：《Genes & Diseases》2025年第3期50-53,共4页基因与疾病(英文)

基　　金：supported in part by the National Natural Science Foundation of China(No.31970504,31772548,82371863,82070394);the NHC Key Laboratory of Birth Defect for Research and Prevention(Hunan Provincial Maternal and Child Health Care Hospital)(No.KF2021003);the Postgraduate Scientific Innovation Fund of Hunan Province,China(No.CX2018B302).

摘　　要：TNNI3K(troponin-I interacting kinase)encodes a duo tyrosine and serine/threonine kinase implicated in cardiomyopathy,arrhythmias,and cardiac conduction disease(CCD).1 However,no direct downstream phosphorylation targets of TNNI3K have been identified yet.2 Here,we employed the CRISPR/Cas9 gene-editing technique to generate a splicing mutation in the 4th exon of zebrafish tnni3k ortholog gene that mimics a TNNI3K splicing variant identified from a patient family with cardiomyopathy and CCD.

关 键 词：generate splicing mutation splicing mutation zebrafish tnni k ortholog gene tnni k direct downstream phosphorylation targets cardiac conduction disease ccd CARDIOMYOPATHY nfatc signaling 

分 类 号：R54[医药卫生—心血管疾病]