Publications by authors named "Julio Vicente Guevara"
Background: There is growing evidence that pathogenic mutations do not fully explain hypertrophic (HCM) or dilated (DCM) cardiomyopathy phenotypes. We hypothesized that if a patient's genetic background was influencing cardiomyopathy this should be detectable as signatures in gene expression. We built a cardiomyopathy biobank resource for interrogating personalized genotype phenotype relationships in human cell lines.
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- Long QT syndrome (LQTS) is a genetic heart condition that disrupts normal electrical activity, which can result in serious symptoms like fainting, seizures, and even sudden death.
- Researchers created two human-induced pluripotent stem cell (iPSC) lines from patients with a specific mutation in the SNTA1 gene linked to LQTS.
- These iPSC lines displayed normal characteristics and potential to develop into various cell types, making them useful for studying the disease mechanisms associated with the SNTA1 mutation.