Browsing Molekulare Medizin by Advisor "Guan-Schmidt, Kaomei Prof. Dr."
Now showing items 1-3 of 3
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Functional analysis of ryanodine receptor 2 mutations in induced pluripotent stem cell-derived cardiomyocytes from CPVT patients
(2017-03-30)Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channel disorder in the heart, which is characterized by abnormal calcium handling, ventricular arrhythmias, and sudden cardiac death. This inherited ... -
Induced pluripotent stem cell-derived cardiomyocytes as model for studying CPVT caused by mutations in RYR2
(2016-12-02)Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary cardiac ion-channel disease, which is caused by mutations in ryanodine receptor 2 (RYR2) or calsequestrin 2 (CASQ2). After β-adrenergic ... -
An integrated approach using patient-specific induced pluripotent stem cells and protein biochemistry to study Vici syndrome associated cardiomyopathy
(2016-10-17)Vici syndrome is a rare autosomal recessive inherited multisystem disorder caused by mutations in EPG5. More than 80% of the patients with Vici syndrome suffer from cardiomyopathy. In this study, the induced pluripotent ...