Articles with "mutation specific" as a keyword



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Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells

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Published in 2022 at "Diabetes"

DOI: 10.2337/db20-1279

Abstract: Studies of monogenic diabetes are particularly useful because we can gain insight into the molecular events of pancreatic β-cell failure. Maturity-onset diabetes of the young 1 (MODY1) is a form of monogenic diabetes caused by… read more here.

Keywords: cell; environment; mutation specific; hipsc derived ... See more keywords
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Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23137389

Abstract: The electrocardiogram (ECG) empowered clinician scientists to measure the electrical activity of the heart noninvasively to identify arrhythmias and heart disease. Shortly after the standardization of the 12-lead ECG for the diagnosis of heart disease,… read more here.

Keywords: specific differences; channel dysfunction; mutation specific; long syndrome ... See more keywords