Results 61 to 70 of about 9,233 (239)

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism

Advanced Science, EarlyView.
The study demonstrated that connexin43 (Cx43) knockout caused arrhythmic phenotype and decreased proline content in vitro and in vivo. Mechanistically, Cx43 interacts with the amino acid transporter SNAT2 (sodium‐dependent neutral amino acid transporter), and its deficiency disrupts proline transport and metabolism.
Hangying Ying, Hangping Fan, Yunhe Wang, Ruhong Jiang, Dongsheng Cai, Hui Cheng, Hao Wang, Chenyang Jiang, Ping Liang   +8 more
wiley   +1 more source

Establishment of a human-induced pluripotent stem cell line, KSCBi014-A, from a long QT syndrome type 2 patient harboring a KCNH2 mutation

Stem Cell Research, 2021
Long QT syndrome type 2 (LQT2) is a heart disorder caused by a loss-of-function mutation in the KCNH2 gene that is an essential factor in cardiac repolarization and affects the heart rate. This study has generated a human-induced stem cell line (KSCBi014-
Youngsun Lee, Soo Kyung Koo, Jung-Hyun Kim   +2 more
doaj   +1 more source

Torsades de Pointes electrical storm in children with KCNH2 mutations. [PDF]

BMC Med Genomics
Congenital long QT syndrome (LQTS) is a genetic heart disorder, which may lead to life-threatening arrhythmias, especially in children. Here, we reported two children who were initially misdiagnosed with epilepsy and experienced Torsades de Pointes (TdP) cardiac electrical storm (ES).
Zhang L, Xu M, Yan Z, Han Y, Jiang X, Xiao T, Hou C, Li Y.   +7 more
europepmc   +4 more sources

Bioprinted Excitable Tissues with Multistimulation Systems for Promoting Function and Maturation

Advanced NanoBiomed Research, EarlyView.
This review provides an overview of stimulation strategies used to enhance the functional maturation of bioprinted excitable tissues. It addresses key limitations in physiological performance of bioprinted excitable tissues, outlines major stimulation modalities—including electrical, mechanical, optical, magnetic, ultrasound, and hybrid—and examines ...
Uijung Yong, Jinseon Park, Jinah Jang
wiley   +1 more source

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. [PDF]

, 2016
Epidemiologic studies clearly document the public health burden of sudden unexpected death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic cardiorespiratory dysfunction, both interictally and at the time of sudden death due ...
Ackerman, Albert, Anderson, Ansakorpi, Arking, Arking, Auerbach, Aurlien, Bagnall, Bastiaenen, Bateman, Behr, Behr, Behr, Behr, Benarroch, Bezzina, Bezzina, Bird, Brackenbury, Burke, Carvill, Chadwick, Cheah, Chen, Crotti, Davis, Dekker, Delogu, Epi4K Consortium, Ergul, Faingold, Faingold, Fodstad, Genton, Glasscock, Glasscock, Goldman, Hartmann, Hawkins, Heron, Hindocha, Hodges, Holth, International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address e-auea, Iwasa, Jamshidi, Jeffs, Johnson, Jouven, Kaab, Kalume, Kao, Kapplinger, Kash, Keller, Klassen, Klassen, Krahn, Larsen, Lehnart, Liu, Lopez-Santiago, Lossius, Ludwig, Marionneau, Marsman, Massey, Meuth, Monteggia, Mullally, Nashef, Nashef, Nashef, Noam, Novy, O'Brien, Ogiwara, Ogiwara, Papadakis, Partemi, Persson, Plant, Postma, Priori, Priori, Raju, Raju, Richerson, Roden, Rugg-Gunn, Russell, Sakauchi, Scheffer, Semsarian, Skluzacek, Sowers, Splawski, Stieber, Swan, Tecott, Tester, Tester, Tester, Tu, Tu, Tupal, Uteshev, Veeramah, Veeramah, Viskin, Wallace, Weckhuysen, Westenskow, Wilde, Yoshikane, Zaidi   +116 more
core   +1 more source

The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG) [PDF]

European Heart Journal, 2008
Atrial fibrillation (AF) is the most frequent arrhythmia in humans. Rare familial forms exist. Recent evidence indicates a genetic susceptibility to common forms of AF. The alpha-subunit of the myocardial I(Kr)-channel, encoded by the KCNH2 gene, is crucial to ventricular and atrial repolarization.
Moritz F, Sinner, Arne, Pfeufer, Mahmut, Akyol, Britt-Maria, Beckmann, Martin, Hinterseer, Annette, Wacker, Siegfried, Perz, Wiebke, Sauter, Thomas, Illig, Michael, Näbauer, Claus, Schmitt, H-Erich, Wichmann, Albert, Schömig, Gerhard, Steinbeck, Thomas, Meitinger, Stefan, Kääb   +15 more
openaire   +2 more sources

Cardiovascular morbidity following epilepsy: A nationwide retrospective cohort study in South Korea

Epilepsia Open, EarlyView.
Abstract Objective This study evaluated the long‐term risk of major cardiovascular diseases (CVDs) in patients with epilepsy using a nationwide cohort, aiming to address critical gaps in population‐based evidence on brain–heart interactions. Methods Data from the Korean National Health Insurance Service (2002–2013) were analyzed.
Youngoh Bae, Chaeyoon Kang, Yejin Lee, Haerim Cho, Hohyun Jung, Seung Won Lee   +5 more
wiley   +1 more source

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. [PDF]

, 2017
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology.
Ackerman, Aken, Antzelevitch, Arthur A.M. Wilde, Bagnall, Bagnall, Bee Y. Soh, Behr, Behr, Behr, Bezzina, Bezzina, Bo G. Winkel, Cerrone, Chee J. Pua, Christian van der Werf, Connie R. Bezzina, Della Cole, Donald R. Love, Efstathios Papatheodorou, Elijah R. Behr, Elisabeth M. Lodder, Gladding, Greg Mellor, Hariharan Raju, Hayashi, Herman, Hertz, Jackie Crawford, Jacob Tfelt-Hansen, James S. Ware, Jan Till, Jaydutt D. Bhalshankar, Jonathan R. Skinner, Kircher, Lahrouchi, Maria Tome-Esteban, Marta C. Cohen, Mary N. Sheppard, Mellor, Methner, Michael Papadakis, Miles, Najim Lahrouchi, Nunn, Priori, Pua, Rafik Tadros, Richards, Risha Govind, Rizzo, Sanjay Sharma, Semsarian, Skinner, Stuart A. Cook, Task Force for the Diagnosis and Management of Syncope, European Society of Cardiology (ESC), European Heart Rhythm Association (EHRA), Walsh, Wang, Winkel, Wu, Yanushi D. Wijeyeratne, Zhan   +61 more
core   +3 more sources

Sudden unexpected death in epilepsy (SUDEP): Risk management of pediatric patients with epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in people with epilepsy with an incidence of 1:1000. The primary risk factors for SUDEP are generalized or focal to bilateral tonic–clonic seizures. Preventive measures like nighttime monitoring devices and resuscitation training address modifiable risk factors.
Laura Lutz, Lena Luise Becker, Alwina Koch, Angela M. Kaindl   +3 more
wiley   +1 more source

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Frontiers in Genetics
IntroductionLong QT syndrome (LQTS) is an autosomal dominant inherited cardiac condition characterized by a QT interval prolongation and risk of sudden death. There are 17 subtypes of this syndrome associated with genetic variants in 11 genes. The second
Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Patricia Guevara-Ramirez, Santiago Cadena-Ullauri, Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ana Karina Zambrano   +9 more
doaj   +1 more source