Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely sole...

by Ashley Paquin, BA, Dan Ye, MD, David J. Tester, BS, Jamie D. Kapplinger, BA, Michael T. Zimmermann, PhD, Michael J. Ackerman, MD, PhD
Published 2018-02-01

Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.

by Rou-Mu Hu, Bi-Hua Tan, David J Tester, Chunhua Song, Yang He, Sinisa Dovat, Blaise Z Peterson, Michael J Ackerman, Jonathan C Makielski
Published 2015-01-01

A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions

by Xiaozhi Gao, BS, Dan Ye, MD, Wei Zhou, MD, David J. Tester, BS, Michael J. Ackerman, MD, PhD, John R. Giudicessi, MD, PhD
Published 2022-01-01

LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype

by Michael J. Ackerman, David J. Tester, Carmen R. Valdivia, Bi-Hua Tan, Jonathan C. Makielski, Matteo Vatta, Argelia Medeiros-Domingo, Jianding Cheng, David W. Van Norstrand
Published 2011-08-01

Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy

by Ramin Garmany, J. Martijn Bos, Surendra Dasari, Kenneth L. Johnson, David J. Tester, John R. Giudicessi, Cristobal dos Remedios, Joseph J. Maleszewski, Steve R. Ommen, Joseph A. Dearani, Michael J. Ackerman
Published 2023-09-01

SARS-CoV-2 spike protein-mediated cardiomyocyte fusion may contribute to increased arrhythmic risk in COVID-19.

by Daniel J Clemens, Dan Ye, Wei Zhou, C S John Kim, David R Pease, Chanakha K Navaratnarajah, Alison Barkhymer, David J Tester, Timothy J Nelson, Roberto Cattaneo, Jay W Schneider, Michael J Ackerman
Published 2023-01-01

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

by Jessica A Hennessey, Nicole J Boczek, Yong-Hui Jiang, Joelle D Miller, William Patrick, Ryan Pfeiffer, Brittan S Sutphin, David J Tester, Hector Barajas-Martinez, Michael J Ackerman, Charles Antzelevitch, Ronald Kanter, Geoffrey S Pitt
Published 2014-01-01

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia‐Related Genes

by C. Anwar A. Chahal, Mohammad N. Salloum, Fares Alahdab, Joseph A. Gottwald, David J. Tester, Lucman A. Anwer, Elson L. So, Mohammad Hassan Murad, Erik K. St Louis, Michael J. Ackerman, Virend K. Somers
Published 2020-01-01

Knockout of SORBS2 Protein Disrupts the Structural Integrity of Intercalated Disc and Manifests Features of Arrhythmogenic Cardiomyopathy

by Yonghe Ding, Jingchun Yang, Peng Chen, Tong Lu, Kunli Jiao, David J. Tester, John R. Giudicessi, Kai Jiang, Michael J. Ackerman, Yigang Li, Dao Wu Wang, HoN‐chi Lee, Dao Wen Wang, Xiaolei Xu
Published 2020-09-01

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death

by C. Anwar A. Chahal, David J. Tester, Ahmed U. Fayyaz, Keerthi Jaliparthy, Nadeem A. Khan, Dongmei Lu, Mariha Khan, Aradhana Sahoo, Aiswarya Rajendran, Jennifer A. Knight, Michael A. Simpson, Elijah R. Behr, Elson L. So, Erik K. St. Louis, R. Ross Reichard, William D. Edwards, Michael J. Ackerman, Virend K. Somers
Published 2021-12-01