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Browsing by Subject "ventricular arrhythmia"

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Browsing by Subject "ventricular arrhythmia"

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  • RYR2 sequencing reveals novel missense mutations in a Kazakh Idiopathic ventricular tachycardia study cohort 
    Akilzhanova, Ainur; Guelly, Christian; Nuralinov, Omirbek; Nurkina, Zhannur; Nazhat, Dinara; Smagulov, Shalkhar; Tursunbekov, Azat; Alzhanova, Anar; Rashbayeva, Gulzhaina; Abdrakhmanov, Ayan; Dosmagambet, Sholpan; Trajanoski, Slave; Zhumadilov, Zhaxybay; Sharman, Almaz; Bekbosynova, Mahabbat (PLOS ONE. doi:10.1371/journal.pone.0101059, 2014)
    Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key ...
  • Screening mutation in RYR2 gene in a Kazakhstani idiopathic ventricular tachycardia study cohort: two novel mutations 
    Akilzhanova, A.; Guelly, C.; Abilova, Z. M.; Rakhimova, S.; Nuralinov, O. M.; Abdrakhmanov, A. C.; Bekbosynova, M. S. (Nazarbayev University, 2014)
    The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (<60%) in context of catecholaminergic polymorphic ...