Publications by authors named "Sungseek Kim"
Article Synopsis
- The study investigates the process of centrosome reduction during cardiomyocyte maturation and its potential link to a rare infant case of dilated cardiomyopathy.
- Researchers derived induced pluripotent stem cells from the patient, performed whole exome sequencing, and utilized CRISPR/Cas9 techniques to identify and validate the causal gene, RTTN (rotatin).
- The findings suggest that a defect in the centrosomal protein RTTN is associated with impaired maturation and function of cardiomyocytes, marking it as a potential contributor to non-syndromic dilated cardiomyopathy.
Background: Pulmonary arterial hypertension (PAH) is a progressive, chronic disease without curative treatment. Large registry data of these patient populations have been published, although, phenotypic variants within each subtype of PAH have not been elucidated. As interest towards personalized medicine grows, the need for a PAH cohort with a comprehensive understanding of patient phenotypes through multiomics approaches, called deep phenotyping, is on the rise.
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