Results 31 to 40 of about 9,233 (239)

Targeting potassium channels and autophagy to defeat chemoresistance

Molecular & Cellular Oncology, 2020
Both autophagy and hERG1 potassium channels have been shown to promote tumor progression and resistance to treatment. Our findings indicate that the antibiotic clarithromycin can target hERG1 and modulate autophagy to promote the death of chemoresistant ...
Giulia Petroni
doaj   +1 more source

Case Report of Long QT Syndrome in a Patient With Syncope. [PDF]

Kaohsiung J Med Sci
The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 12, December 2025.
Chen CY, Wang RX, Weng KP, Huang SM.
europepmc   +2 more sources

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation

Cell Reports, 2019
Summary: The human ether-a-go-go-related gene KCNH2 encodes the voltage-gated potassium channel underlying IKr, a current critical for the repolarization phase of the cardiac action potential. Mutations in KCNH2 that cause a reduction of the repolarizing
Malou van den Boogaard, Jan Hendrik van Weerd, Amira C. Bawazeer, Ingeborg B. Hooijkaas, Harmen J.G. van de Werken, Federico Tessadori, Wouter de Laat, Phil Barnett, Jeroen Bakkers, Vincent M. Christoffels   +9 more
doaj   +1 more source

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Generation of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome

Stem Cell Research, 2021
Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death.
Gema Mondéjar-Parreño, James W.S. Jahng, Nadjet Belbachir, Blake C. Wu, Xiaolan Zhang, Marco V. Perez, Nitish Badhwar, Joseph C. Wu   +7 more
doaj   +1 more source

Novel mutation in the KCNH2 gene associated with long QT syndrome

Revista Portuguesa de Cardiologia (English Edition), 2013
Doroteia Silva, Gábriel Miltenberger-Miltényi, Maria José Correia, António Nunes Diogo   +3 more
openalex   +4 more sources

Kcnh2 mediates FAK/AKT‐FOXO3A pathway to attenuate sepsis‐induced cardiac dysfunction [PDF]

Cell Proliferation, 2020
AbstractObjectivesMyocardial dysfunction is a significant manifestation in sepsis, which results in high mortality. Even Kcnh2 has been hinted to associate with the pathological process, its involved signalling is still elusive.Materials and methodsThe caecal ligation puncture (CLP) surgery or lipopolysaccharide (LPS) injection was performed to induce ...
Zhigang Li, Yilei Meng, Chang Liu, Huan Liu, Wenze Cao, Chang Tong, Min Lu, Li Li, Luying Peng   +8 more
openalex   +3 more sources

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Frontiers in Genetics, 2022
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death.
Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Yingjun Xie, Gaoxiong Wang   +8 more
doaj   +1 more source

Integration of genetics into a systems model of electrocardiographic traits using humanCVD BeadChip [PDF]

, 2012
<p>Background—Electrocardiographic traits are important, substantially heritable determinants of risk of arrhythmias and sudden cardiac death.</p> <p>Methods and Results—In this study, 3 population-based cohorts (n=10 526) genotyped ...
Adeniran, I., Amuzu, A., Braund, P.S., Burton, P.R., Casas, J.-P., Day, I.N.M., Drenos, F., Eriksson, P., Folkersen, L., Gaunt, T.R., Hancox, J.C., Hingorani, A.D., Humphries, S.E., Kivimaki, M., Kumari, M., Lawlor, D.A., Macfarlane, P.W., Nelson, C.P., Samani, N.J., Shah, S., Talmud, P.J., Tobin, M.D., Tomaszewski, M., Whittaker, J., Zhang, H.   +24 more
core   +1 more source

Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]

, 2020
Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo, Bruno Mirra, Cristina Mazzaccara, Ferdinando Barretta, Giulia Frisso, Olga Scudiero   +5 more
core   +1 more source