Article
Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.
Circulation - 7 Mar 2023
Bersell Kevin R, Yang Tao, Mosley Jonathan D, Glazer Andrew M, Hale Andrew T, Kryshtal Dmytro O, Kim Kyungsoo, Steimle Jeffrey D, Brown Jonathan D, Salem Joe-Elie, Campbell Courtney C, Hong Charles C, Wells Quinn S, Johnson Amanda N, Short Laura, Blair Marcia A, Behr Elijah R, Petropoulou Evmorfia, Jamshidi Yalda, Benson Mark D, Keyes Michelle J, Ngo Debby, Vasan Ramachandran S, Yang Qiong, Gerszten Robert E, Shaffer Christian, Parikh Shan, Sheng Quanhu, Kannankeril Prince J, Moskowitz Ivan P, York John D, Wang Thomas J, Knollmann Bjorn C, Roden Dan M
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is an inherited arrhythmia syndrome caused by loss-of-function variants in the cardiac sodium channel gene SCN5A (sodium voltage-gated channel alpha subunit 5) in ≈20% of subjects. We identified a family with 4 individuals diagnosed with BrS harboring the rare G145R missense variant in the cardiac transcription factor TBX5 (T-box transcription factor 5) and no SCN5A variant....
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