Results 61 to 70 of about 798 (112)

Transcriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7

Journal of Translational Medicine
Objective Long QT syndrome type 7 (Andersen–Tawil syndrome, ATS), which is caused by KCNJ2 gene mutation, often leads to ventricular arrhythmia, periodic paralysis and skeletal malformations.
Peipei Chen, Junyu Long, Tianrui Hua, Zhifa Zheng, Ying Xiao, Lianfeng Chen, Kang Yu, Wei Wu, Shuyang Zhang   +8 more
doaj   +1 more source

Rare electrocardiographic findings in a young woman with acute barium poisoning: A case report

Heliyon
Background: Barium, as a heavy divalent alkaline earth metal, can be found in various products such as rodenticides, insecticides, depilatories, and fireworks. Barium can be highly toxic upon both acute and chronic exposure.
Yubin Zhang, Xi Huang, Yiru Han, Ren Yan
doaj   +1 more source

Kir2.1 dysfunction at the sarcolemma and the sarcoplasmic reticulum causes arrhythmias in a mouse model of Andersen-Tawil syndrome type 1. [PDF]

Nat Cardiovasc Res, 2022
Macías Á, González-Guerra A, Moreno-Manuel AI, Cruz FM, Gutiérrez LK, García-Quintáns N, Roche-Molina M, Bermúdez-Jiménez F, Andrés V, Vera-Pedrosa ML, Martínez-Carrascoso I, Bernal JA, Jalife J.   +12 more
europepmc   +1 more source

Clinodactyly and syndactyly – diagnostic clues for Andersen-Tawil syndrome

Arquivos de Neuro-Psiquiatria, 2014
Carlos Andrade, Joana Meireles, Miguel Leão, Fernando Silveira   +3 more
doaj   +1 more source

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies

The Application of Clinical Genetics, 2013
Pi-Yin Hsiao,1 Hui-Chun Tien,2 Chu-Pin Lo,2 Jyh-Ming Jimmy Juang,3 Yi-Hsin Wang,2 Ruey J Sung41Institute of Life Sciences, National Central University, Taoyuan, Taiwan; 2Department of Financial and Computational Mathematics, Providence University ...
Hsiao PY, Tien HC, Lo CP, Juang JM, Wang YH, Sung RJ   +5 more
doaj  

Andersen-Tawil syndrome with sex-specific phenotype: usefulness of the long exercise test

Neurología (English Edition), 2020
S. Parra, D. Leal, R. Vilar, M. Mateo, J. Melero   +4 more
doaj   +1 more source

Andersen-Tawil syndrome associated with myopathy. [PDF]

World J Emerg Med, 2020
Wu L, Fang Y, Zhang BR.
europepmc   +1 more source

Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome. [PDF]

BMJ Case Rep, 2020
Polyak ME, Shestak A, Podolyak D, Zaklyazminskaya E.   +3 more
europepmc   +1 more source

024 Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort

BMJ Neurology Open, 2021
Michael G Hanna, Vinojini Vivekanandam, Emma Matthews   +2 more
doaj   +1 more source

The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report. [PDF]

Eur Heart J Case Rep
Stavnem D, Bhardwaj P, Tfelt-Hansen J, Hansen CJ, Winkel BG.   +4 more
europepmc   +1 more source