Výsledky vyhledávání - "Samantha K, Hamrick"

Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for

Autor: Dan, Ye, Wei, Zhou, Samantha K, Hamrick, David J, Tester, C S John, Kim, Hector, Barajas-Martinez, Dan, Hu, John R, Giudicessi, Charles, Antzelevitch, Michael J, Ackerman

Publikováno v: Circulation. Genomic and precision medicine. 15(5)

The transient outward current (Ito) that mediates early (phase 1) repolarization is conducted by theKCND3-V392I was identified in an 18-year-old male with J wave syndrome/early repolarization syndrome, and a history of cardiac arrest including ventri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f5fadfc6283d9541c9ec09009a5958b
https://pubmed.ncbi.nlm.nih.gov/35861988

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

Autor: 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

Publikováno v: Stem Cell Reports. 17:2023-2036

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy causing ventricular tachycardia following adrenergic stimulation. Pathogenic variants in RYR2-encoded ryanodine receptor 2 (RYR2) cause CPVT1 and cluster into dom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb2793eea260a1df3d18391d32d49ff
https://doi.org/10.1016/j.stemcr.2022.07.002

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Patient-specific, re-engineered cardiomyocyte model confirms the circumstance-dependent arrhythmia risk associated with the African-specific common SCN5A polymorphism p.S1103Y: Implications for the increased sudden deaths observed in black individuals during the COVID-19 pandemic

Autor: Samantha K, Hamrick, C S, John Kim, David J, Tester, John R, Giudicessi, Michael J, Ackerman

Publikováno v: Heart Rhythm. 19:822-827

During the early stages of the coronavirus disease 2019 (COVID-19) pandemic, a marked increase in sudden cardiac death (SCD) was observed. The p.S1103Y-SCN5A common variant, which is present in ∼8% of individuals of African descent, may be a circum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e58cbea41bf1d77617c890648b616c56
https://doi.org/10.1016/j.hrthm.2021.12.029

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SGK1 Inhibition Attenuates the Action Potential Duration in Re-Engineered Heart Cell Models of Drug-Induced QT Prolongation

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

Publikováno v: Heart rhythm.

Drug-induced QT prolongation (DI-QTP) is a clinical entity in which administration of a HERG/IHere, we test the efficacy of 2 novel SGK1 inhibitors in iPSC-CM models of dofetilide-induced APD prolongation.Normal iPSC-CMs were treated with dofetilide

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd81c8c3ce1f45f4ef57d3ff2163e98
https://pubmed.ncbi.nlm.nih.gov/36610526

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Acacetin, a Potent Transient Outward Current Blocker, May Be a Novel Therapeutic for KCND3 -Encoded Kv4.3 Gain-of-Function-Associated J-Wave Syndromes

Autor: Dan Ye, Wei Zhou, Samantha K. Hamrick, David J. Tester, C.S. John Kim, Hector Barajas-Martinez, Dan Hu, John R. Giudicessi, Charles Antzelevitch, Michael J. Ackerman

Publikováno v: Circulation: Genomic and Precision Medicine. 15

Background: The transient outward current (Ito) that mediates early (phase 1) repolarization is conducted by the KCND3 -encoded Kv4.3 pore-forming α-subunit. KCND3 gain-of-function mutations have been reported previously as a pathogenic substrate fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::10e2526342e0fe36e1dc7e0cce1d2768
https://doi.org/10.1161/circgen.120.003238

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Promise and Potential Peril With Lumacaftor for the Trafficking Defective Type 2 Long-QT Syndrome-Causative Variants, p.G604S, p.N633S, and p.R685P, Using Patient-Specific Re-Engineered Cardiomyocytes

Autor: CS John Kim, Dan Ye, Samantha K. Hamrick, Michael J. Ackerman, Bailey J. O’Hare, David J. Tester

Publikováno v: Circulation. Genomic and precision medicine. 13(5)

Background: The KCNH2 -encoded Kv11.1 hERG (human ether-a-go-go related gene) potassium channel is a critical regulator of cardiomyocyte action potential duration (APD). The majority of type 2 long-QT syndrome (LQT2) stems from trafficking defective

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::407739a87a30448e5a132cebadd75178
https://pubmed.ncbi.nlm.nih.gov/32940533

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Molecular characterization of the calcium release channel deficiency syndrome

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

Publikováno v: JCI Insight

We identified a potentially novel homozygous duplication involving the promoter region and exons 1–4 of the gene encoding type 2 cardiac ryanodine receptor (RYR2) that is responsible for highly penetrant, exertion-related sudden deaths/cardiac arre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5191ec41470713d80b2838ccecfd64
https://doi.org/10.1172/jci.insight.135952

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