Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome

por Giudicessi, John R., Maleszewski, Joseph J., Tester, David J., Ackerman, Michael J.
Publicado 2021

Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in S...

por Stutzman, Marissa J., Ye, Dan, Tester, David J., Giudicessi, John R., Ackerman, Michael J.
Publicado 2018

Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded K(v)7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely so...

por Paquin, Ashley, Ye, Dan, Tester, David J., Kapplinger, Jamie D., Zimmermann, Michael T., Ackerman, Michael J.
Publicado 2017

A novel functional variant residing outside the SCN5A-encoded Na(v)1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions

por Gao, Xiaozhi, Ye, Dan, Zhou, Wei, Tester, David J., Ackerman, Michael J., Giudicessi, John R.
Publicado 2021

Red herring pathogenic variants: a case report of premature ventricular contraction-triggered ventricular fibrillation with an incidental pathogenic LMNA variant

por Garmany, Ramin, Neves, Raquel, Ali Ahmed, Fatima, Tester, David J., Cannon, Bryan C., Giudicessi, John R., Ackerman, Michael J.
Publicado 2022

Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

por Hu, Rou-Mu, Song, Evelyn J., Tester, David J., Deschenes, Isabelle, Ackerman, Michael J., Makielski, Jonathan C., Tan, Bi-Hua
Publicado 2021

SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome

por Kim, Maengjo, Das, Saumya, Tester, David J., Pradhananga, Sabindra, Hamrick, Samantha K., Gao, Xiaozhi, Srinivasan, Dinesh, Sager, Philip T., Ackerman, Michael J.
Publicado 2023

Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients

por Hu, Rou-Mu, Tester, David J., Li, Ryan, Sun, Tianyu, Peterson, Blaise Z., Ackerman, Michael J., Makielski, Jonathan C., Tan, Bi-Hua
Publicado 2018

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

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

Cellular and electrophysiological characterization of triadin knockout syndrome using induced pluripotent stem cell-derived cardiomyocytes

por Clemens, Daniel J., Ye, Dan, Wang, Lili, Kim, C.S. John, Zhou, Wei, Dotzler, Steven M., Tester, David J., Marty, Isabelle, Knollmann, Bjorn C., Ackerman, Michael J.
Publicado 2023

KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1

por Kapplinger, Jamie D, Erickson, Anders, Asuri, Sirisha, Tester, David J, McIntosh, Sarah, Kerr, Charles R, Morrison, Julie, Tang, Anthony, Sanatani, Shubhayan, Arbour, Laura, Ackerman, Michael J
Publicado 2017

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

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

Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential

por Stutzman, Marissa J., Kim, C.S. John, Tester, David J., Hamrick, Samantha K., Dotzler, Steven M., Giudicessi, John R., Miotto, Marco C., GC, Jeevan B., Frank, Joachim, Marks, Andrew R., Ackerman, Michael J.
Publicado 2022

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

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

A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased Ca(V)1.2 Channel Window Current, and Arrhythmogenesis

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

De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca(2+) regulation

por Halvorsen, Matthew, Gould, Laura, Wang, Xiaohan, Grant, Gariel, Moya, Raquel, Rabin, Rachel, Ackerman, Michael J., Tester, David J., Lin, Peter T., Pappas, John G., Maurano, Matthew T., Goldstein, David B., Tsien, Richard W., Devinsky, Orrin
Publicado 2021

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

por Chahal, C. Anwar A., Salloum, Mohammad N., Alahdab, Fares, Gottwald, Joseph A., Tester, David J., Anwer, Lucman A., So, Elson L., Murad, Mohammad Hassan, St Louis, Erik K., Ackerman, Michael J., Somers, Virend K.
Publicado 2019

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

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

Molecular characterization of the calcium release channel deficiency syndrome

por Tester, David J., Kim, CS John, Hamrick, Samantha K., Ye, Dan, O’Hare, Bailey J., Bombei, Hannah M., Fitzgerald, Kristi K., Haglund-Turnquist, Carla M., Atkins, Dianne L., Nunez, Luis A. Ochoa, Law, Ian, Temple, Joel, Ackerman, Michael J.
Publicado 2020

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

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