Harnessing human genetics and stem cells for precision cardiovascular medicine
Human induced pluripotent stem cell (iPSC) platforms are valuable for biomedical and
pharmaceutical research by providing tissue-specific human cells that retain patients' …
pharmaceutical research by providing tissue-specific human cells that retain patients' …
Multiplexed Assays of Variant Effect and Automated Patch Clam** Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification
BACKGROUND: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by
rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant …
rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant …
The impact of genetics on the long QT syndrome: myth or reality?
It is undeniable that genetics has revolutionized our mechanistic understanding of cardiac
channelopathies. Its impact has been enormous but, curiously, the way LQTS patients are …
channelopathies. Its impact has been enormous but, curiously, the way LQTS patients are …
[PDF][PDF] Assays of Variant Effect and Automated Patch Clam** Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification
BACKGROUND: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by
rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant …
rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant …
Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants
L Zhong, Z Yan, D Jiang, KC Weng, Y Ouyang… - Circulation …, 2024 - ahajournals.org
BACKGROUND: The KCNQ1+ KCNE1 (IKs) potassium channel plays a crucial role in
cardiac adaptation to stress, in which β-adrenergic stimulation phosphorylates the IKs …
cardiac adaptation to stress, in which β-adrenergic stimulation phosphorylates the IKs …
ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants
Interpreting the clinical significance of putative splice-altering variants outside canonical
splice sites remains difficult without time-intensive experimental studies. To address this, we …
splice sites remains difficult without time-intensive experimental studies. To address this, we …
Multiplexed Assays of Variant Effect and Automated Patch-clam** Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification
Background: Long QT syndrome (LQTS) is a lethal arrhythmia syndrome, frequently caused
by rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant …
by rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant …