日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

使用诱导性多能干细胞衍生的心肌细胞对三叉神经氨酸酶敲除综合征进行细胞和电生理学表征

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

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

SARS-CoV-2 刺突蛋白介导的心肌细胞融合可能会增加 COVID-19 患者心律失常的风险

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

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

SGK1 抑制会减弱患有先天性长 QT 综合征的患者和基因型特异性重塑心脏细胞的动作电位持续时间

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

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

使用患者 iPSC 对 CPVT1 热点区域之外的 N 端 RYR2 变体进行表征,揭示发病机制和治疗潜力

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

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

通过全面尸检和全外显子组分子测序确认癫痫和猝死患者的死因

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

Molecular characterization of the calcium release channel deficiency syndrome

钙释放通道缺乏综合征的分子表征

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

Localization and functional consequences of a direct interaction between TRIOBP-1 and hERG proteins in the heart

TRIOBP-1 和 hERG 蛋白在心脏中直接相互作用的定位和功能后果

David K Jones, Ashley C Johnson, Elon C Roti Roti, Fang Liu, Rebecca Uelmen, Rebecca A Ayers, Istvan Baczko, David J Tester, Michael J Ackerman, Matthew C Trudeau, Gail A Robertson

Congenital myopathy associated with the triadin knockout syndrome

与三叉神经氨酸酶失活综合征相关的先天性肌病

Andrew G Engel, Keeley R Redhage, David J Tester, Michael J Ackerman, Duygu Selcen

Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy

MRAS 介导的 Noonan 综合征伴有心脏肥大

Erin M Higgins, J Martijn Bos, Heather Mason-Suares, David J Tester, Jaeger P Ackerman, Calum A MacRae, Katia Sol-Church, Karen W Gripp, Raul Urrutia, Michael J Ackerman

Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome

外显子组测序和系统生物学相结合,鉴定出与常染色体显性长 QT 综合征相关的 L 型钙通道 CACNA1C 的新突变

Nicole J Boczek, Jabe M Best, David J Tester, John R Giudicessi, Sumit Middha, Jared M Evans, Timothy J Kamp, Michael J Ackerman