Results 61 to 70 of about 9,256 (240)

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

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

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

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

Population‐Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath‐Holding Spells in Swedish Children

Acta Paediatrica, EarlyView.
ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt, Ida Jeremiasen, Erik A. Eklund, Cornelis Jan Pronk   +3 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

Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]

, 2013
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J., Al-Shahrani, S., Bhuiyan, Z.A., Momenah, T.S., Wilde, A.A.M.   +4 more
core   +1 more source

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

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

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