Results 71 to 80 of about 10,273 (224)

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

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

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation

Frontiers in Genetics, 2022
Background: Left ventricular noncompaction (LVNC) is a rare cardiomyopathy, long QT syndrome (LQTS) is a rare ion channel disease, and simultaneous occurrence of both is even rarer.
Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He   +8 more
doaj   +1 more source

MicroRNAs in cardiac arrhythmia: DNA sequence variation of MiR-1 and MiR-133A in long QT syndrome. [PDF]

, 2014
Long QT syndrome (LQTS) is a genetic cardiac condition associated with prolonged ventricular repolarization, primarily a result of perturbations in cardiac ion channels, which predisposes individuals to life-threatening arrhythmias.
Anting L. Carlsen, Bartel DP, Bentwich I, Biesecker LG, Borel C, Care A, Carlsen AL, Carthew RW, Christiansen M, Christiansen M, Crotti L, Dorn GW, Elijah R. Behr, Filipowicz W, Friedman RC, Genomes Project C, Goldenberg I, Gruber AR, Hall TA, Hedley PL, Hedley PL, Hofman-Bang J, Jørgen K. Kanters, Kasper M. Christiansen, Kim GH, Kim J, Krek A, Lagos-Quintana M, Lagos-Quintana M, Larsen LA, Larsen LA, Lee RC, Lewis BP, Lewis BP, Lim LP, Liu N, Liu N, Liu N, Luo X, Matkovich SJ, Mencia A, Michael Christiansen, Ohanian M, Paula L. Hedley, Poy MN, Poy MN, Rajewsky N, Raymond M, Rousset F, Ryan BM, Saunders MA, Small EM, Terentyev D, Valencia-Sanchez MA, Valerie A. Corfield, Xiao L, Yang Y, Ye J, Zhao Y, Zhao Y   +59 more
core   +1 more source

Association between antihypertensive drugs and oral cancer: a drug target Mendelian randomization study

Frontiers in Pharmacology, 2023
Background: Recent reports have suggested that antihypertensive drugs may play an oncogenic role in common cancers, but it is still uncertain whether this could influence the risk of oral cancer. Through two-sample Mendelian randomization (MR), we sought
Junfeng Guo, Junfeng Guo, Rongxing Liu, Fangfang Sheng, Qiuxiang Wu, Rufu Xu, Haitao He, Gang Zhang, Junjie Huang, Zhe Zhang, Rong Zhang   +10 more
doaj   +1 more source

In vivo KCNH2-suppression-replacement gene therapy attenuates the pathogenic phenotype in transgenic rabbits with short QT syndrome type 1

Europace
Background Short QT syndrome type 1 (SQT1) is a genetic channelopathy characterized by gain-of-function variants in the KCNH2-encoded potassium channel underlying the IKr current, leading to a pathologically shortened cardiac action potential duration ...
S. Nimani, S. Bains, N. Alerni, L. Giammarino, J. Louradour, A. Horváth, O. Beslac, D. Tester, N. Christoforou, M. Brunner, D. Casoni, A. Haeberlin, G. Brooks, M. J. Ackerman, K. Odening   +14 more
semanticscholar   +1 more source

Role of Histone Deacetylase and Inhibitors in Cardiovascular Diseases

Cell Proliferation, EarlyView.
HDACs play an important role in the occurrence and development of cardiovascular diseases, such as myocardial hypertrophy, hypertension, and atherosclerosis. HDAC inhibitors have broad prospects for the treatment of CVD, and different HDAC subtypes can act through different mechanisms.
Li‐Ying Zhang, Yue‐Yue Wang, Ri Wen, Tie‐Ning Zhang, Ni Yang   +4 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

Drug-mediated shortening of action potentials in LQTS2 hiPSC-cardiomyocytes [PDF]

, 2017
Cardiomyocytes (CMs) derived from human induced pluripotent stem cells (hiPSCs) are now a well-established modality for modeling genetic disorders of the heart.
Denning, Chris, Duncan, Gary, Firth, Karl S.A., George, Vinoj, Hoang, Minh Duc, Smith, Godfrey, Stainforth, Andrew   +6 more
core   +3 more sources

Cancer Hallmarks Expression in Oral Leukoplakia: Systematic Review and Meta‐Analysis

Oral Diseases, EarlyView.
ABSTRACT Objectives To assess the available evidence on the expression of hallmarks of cancer and oral leukoplakia (OL) malignant transformation probability, with the goal of identifying the earliest oncogenic molecular events participating in oral cancer carcinogenesis.
I. González‐Ruiz, P. Ramos‐García, H. Boujemaoui‐Boulaghmoudi, N. Mjouel‐Boutaleb, M. A. González‐Moles   +4 more
wiley   +1 more source