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个人简介
Our research program is focused on understanding congenital or acquired cardiac arrhythmia syndromes that cause sudden death. After obtaining my PhD in Physiology and Biophysics at the University of Kentucky studying voltage-gated Ca2+ channels, I joined Dr. Craig January’s laboratory (University of Wisconsin-Madison) to study the biophysical properties of the voltage-gated K+ channels (e.g., KCNQ1 and KCNH2/hERG). I have since returned to the University of Kentucky and my research program continues to focus on studying the regulation of cardiac K+ channels and the roles they play in acquired or congenital arrhythmia syndromes.
Circadian Regulation of Cardiac Ion Channels and Electrophysiology
Goal:Determine the impact of the molecular clock and circadian rhythms on ion channel function and arrhythmia susceptibility.
A new area of research we are actively involved in is to determine how circadian rhythms, as well as daily rhythms in the environment or behavior, impact cardiac ion channel regulation, cardiac electrophysiology, and the risk for arrhythmias. Circadian rhythms are generated by highly conserved evolutionary processes that integrate the timing of the body’s physiology to daily changes in the environment. The molecular mechanism driving circadian rhythms is a transcription/translation feedback mechanism (the molecular clock) that runs on a 24-hour cycle. We are testing the hypothesis that disruptions in the circadian clock decrease repolarization reserve and increase arrhythmia susceptibility. We will determine how genetic and environmental alterations in circadian rhythms affect repolarization reserve and arrhythmia susceptibility in control mice and a mouse model of long QT syndrome (LQTS). This project mechanistically identifies gene-environment-behavior interactions that influence the manifestation of life-threatening symptoms. We expect to identify under-recognized mechanisms for the regulation of ion channels, cardiac function, and the risk for arrhythmia events.
Genetics of Typical Long QT Syndrome
Goal: Determine the pathophysiological importance of variants of uncertain significance linked in LQTS-linked alleles.
Genetic studies are identifying disease‑associated genetic variants at rates far greater than our ability to study their causal roles. Lack of gene to function information not only hinders our ability to understand the mechanistic basis for a given disease, but also the corresponding absence of a genotype-to-phenotype link delays the development of meaningful diagnostic screens. A related, and equally important, issue is that, once a specific gene is definitively associated with a given disease, genetic tests designed to survey that gene often identify novel, private variants. Despite a lack of any genetic or functional link between the newly discovered alleles and disease causation, physicians often act on these “variants of uncertain significance” (VUS), which can lead to mis- or over‑treatment for a disease, and unnecessary emotional and physical trauma for the patient. We are developing innovative strategies to address this issue using typical LQTS as our model diseases. Our goal is to develop efficient methods for establishing the functional impacts of VUS in LQTS-linked genes.
研究兴趣
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Xiping Zhang, Spencer B Procopio,Haocheng Ding, Maya G Semel,Elizabeth A Schroder,Tanya S Seward,Ping Du,Kevin K Wu,Sidney R Johnson,Abhilash Prabhat,David J Schneider, Isabel G Stumpf,
bioRxiv : the preprint server for biology (2024)
Xiping Zhang, Spencer B Procopio,Haocheng Ding, Maya G Semel,Elizabeth A Schroder,Tanya S Seward,Ping Du,Kevin Wu,Sidney R Johnson,Abhilash Prabhat,David J Schneider, Isabel G Stumpf,
bioRxiv : the preprint server for biology (2024)
Christian Egly, Tri Do,Yehuda Wexler, Harel Grinstein,Brian P. Delisle,Lior Gepstein,Bjorn C. Knollmann
Heart Rhythmno. 5 (2024): S53-S54
biorxiv(2024)
Circulation researchno. 6 (2024): 659-674
Christian Egly, Tri Do,Yehuda Wexler, Harel Grinstein,Brian P. Delisle,Lior Gepstein,Bjorn C. Knollmann
Heart Rhythmno. 5 (2024): S721
Nature biotechnologypp.1-10, (2023)
Kalyan Immadisetty, Xuan Fang, Geraldine San Ramon, Cassandra M. Hartle, Thomas P. McCoy,Regeneron Genetics Center, Tooraj Mirshahi,Brian P. Delisle,Peter M. Kekenes-Huskey
Journal of Molecular and Cellular Cardiology (2023): 69-83
International journal of molecular sciencesno. 5 (2023): 4999-4999
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