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Targeted ablation of the histidine-rich Ca(2+)-binding protein (HRC) gene is associated with abnormal SR Ca(2+)-cycling and severe pathology under pressure-overload stress.
Park CS, Chen S, Lee H, Cha H, Oh JG, Hong S, Han P, Ginsburg KS, Jin S, Park I, Singh VP, Wang HS, Franzini-Armstrong C, Park WJ, Bers DM, Kranias EG, Cho C, Kim DH. Park CS, et al. Basic Res Cardiol. 2013 May;108(3):344. doi: 10.1007/s00395-013-0344-2. Epub 2013 Apr 4. Basic Res Cardiol. 2013. PMID: 23553082 Free PMC article.
Impaired calcium homeostasis is associated with sudden cardiac death and arrhythmias in a genetic equivalent mouse model of the human HRC-Ser96Ala variant.
Tzimas C, Johnson DM, Santiago DJ, Vafiadaki E, Arvanitis DA, Davos CH, Varela A, Athanasiadis NC, Dimitriou C, Katsimpoulas M, Sonntag S, Kryzhanovska M, Shmerling D, Lehnart SE, Sipido KR, Kranias EG, Sanoudou D. Tzimas C, et al. Cardiovasc Res. 2017 Sep 1;113(11):1403-1417. doi: 10.1093/cvr/cvx113. Cardiovasc Res. 2017. PMID: 28859293