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个人简介
Our research program is focused on the structure, function, pharmacology, and molecular genetics of ion channels. His laboratory has contributed greatly to understanding the mechanisms by which ion channel mutations cause a variety of inherited disorders of membrane excitability including congenital cardiac arrhythmia susceptibility and epilepsy. These basic and translational investigations have provided many opportunities to investigate the relationship between structure and function in ion channels and have helped establish important genotype-phenotype correlations for several human diseases and certain animal models. We were first to elucidate the functional consequences of an ion channel mutation linked to an inherited cardiac arrhythmia (Long-QT Syndrome). This discovery contributed greatly to understanding arrhythmia susceptibility in the disease and inspired use of drugs targeting persistent sodium current as a therapeutic strategy. Recently, the use of exome sequencing enabled us to discover human calmodulin mutations in congenital arrhythmia syndromes. Our studies of the molecular basis for genetic epilepsy have revealed new targets for antiepileptic drug development.
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论文共 577 篇作者统计合作学者相似作者
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Megan J. Puckelwartz,Lorenzo L. Pesce, Edgar J. Hernandez,Gregory Webster, Lisa M. Dellefave-Castillo,Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik,Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger,
Genome Medicineno. 1 (2024): 1-13
Anne T Berg, Christopher H Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J E Kaiser, Katherine Paltell, Amanda N Nili,Jean-Marc DeKeyser,Tatiana V Abramova,Gerry Nesbitt, Shawn Egan,
JACC: Clinical Electrophysiology (2024)
Timothy J Abreo, Emma C Thompson, Anuraag Madabushi,Heun Soh,Nissi Varghese,Carlos G Vanoye,Kristen Springer,Kristen L Park, Jim Johnson, Scotty Sims,Zhigang Ji, Ana G Chavez,
bioRxiv : the preprint server for biology (2024)
Seok Kyu Kang,Nicole A. Hawkins,Christopher H. Thompson, Erin M. Baker,Dennis M. Echevarria-Cooper,Levi Barse, Tyler Thenstedt,Conor J. Dixon,Nathan Speakes,Alfred L. George,Jennifer A. Kearney
Neurobiology of Disease (2024): 106470-106470
Eleni Panagiotakaki, Francesco D. Tiziano,Mohamad A. Mikati,Lisanne S. Vijfhuizen,Sophie Nicole,Gaetan Lesca,Emanuela Abiusi, Agnese Novelli,Lorena Di Pietro,Aster V. E. Harder,Nicole M. Walley,Elisa De Grandis,
EUROPEAN JOURNAL OF HUMAN GENETICSno. 2 (2024): 224-231
Carlos G Vanoye,Tatiana V Abramova,Jean-Marc DeKeyser, Nora F Ghabra, Madeleine J Oudin,Christopher B Burge,Ingo Helbig,Christopher H Thompson,Alfred L George
bioRxiv (Cold Spring Harbor Laboratory) (2023)
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