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Browsing Abstracts by Author "Akilzhanova, A."

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    A targeted sequencing reveal overlapping pattern of genetic variants in patients with cardiomyopathy with cardiac arrhythmias in Kazakhstan
    (2016-05) Akilzhanova, A.; Guelly, Ch.; Abilova, Zh.; Rakhimova, S.; Akhmetova, A.; Kairov, U.; Nuralinov, O.; Rashbayeva, G.; Trajanoski, S.; Zhumadilov, Zh.; Bebosynova, M.
    Ventricular tachycardia (VT) is a common symptom in cardiac disorders of different etiology. Abnormalities of ion channels are attributed to mutations in the genes encoding the channel protein and cause altered function of channels, which can predispose to arrhythmias. Due to the high incidence of cardiovascular disorders in Kazakhstan, we enrolled a study cohort of 95 patients of different clinical phenotypes of cardiomyopathies, including DCM, idiopathic VT but also patients with myocardial infarction as a consequence of coronary heart disease. The common denominator among the three main groups was the occurrence of severe episodes of VT in all patients. Using targeted resequencing, we investigated 96 cardiomyopathy associated candidate-genes in this cohort with the aim to detect rare and common variations in these genes associated with VT molecular basis
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    Influence of Gamma-glutamyl carboxylage (GGCX) on warfarin dose
    (National Laboratory Astana, NAZARBAYEV UNIVERSITY, 2016-05) Zhalbinova, M.; Rakhimova, S.; Bekbosynova, M.; Myrzakhmetova, Sh.; Akilzhanova, A.
    Warfarin is an oral anticoagulant which is popular in cardiology for the prevention and treatment of thromboembolic events in patients with deep vein thrombosis. Patients usually treated according to the clinical data. However, incorrect dose of the treatment can be followed with side effects such as excessive bleeding and thrombosis. To avoid these side effects patients need genetic tests for specific genes which are responsible for the sensitivity of patient to warfarin. GGCX is one of the genes which have a role in dose of the warfarin
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    Transcriptome profiling by next - generation sequencing and pathway analysis of esophageal squamous cell carcinoma in Kazakhstan
    (National Laboratory Astana, Nazarbayev University 2016, 2016-05-11) Rakhimova, S.; Kairov, U.; Molkenov, A.; Zhukov, Y.; Omarov, M.; Popova, M.; Zhumadilov, Zh.; Akilzhanova, A.
    Esophageal cancer is the eighth most common cancer in the world and the highest in Eastern Asia. The incidence rate in Kazakhstan is 10.1: 100 000. Esophageal squamous cell carcinoma (ESCC) is the dominant histological type (> 90%) of esophageal cancer cases. Usage of NGS technologies allows determining effective diagnostic markers and therapeutic approaches for to increase the longevity of the patients. The aim of the project is to identify genetic basis of ESCC by performing whole transcriptome sequencing in Kazakhstani patients.