Browsing Research Institute of Bioengineering, Regenerative Medicine and Neurophysiology by Author "Dosmagambet, Sholpan"

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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 ...