Results 91 to 100 of about 4,086 (181)

Adequate post-ischemic reperfusion of the mouse brain requires endothelial NFAT5

Acta Neuropathologica Communications
Severity and outcome of strokes following cerebral hypoperfusion are significantly influenced by stress responses of the blood vessels. In this context, brain endothelial cells (BEC) regulate inflammation, angiogenesis and the vascular resistance to ...
Reiner Kunze, Paul Wacker, Paula Breuer, Emil Nasyrov, Ivan M. Kur, Andreas Weigert, Andreas H. Wagner, Hugo H. Marti, Thomas Korff   +8 more
doaj   +1 more source

Supplementary Material for: Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2

, 2017
The Andersen-Tawil syndrome (ATS) is characterized by hypo-normokaliemic muscle periodic paralysis, dysmorphic features and ventricular arrhythmias. Most cases are caused by mutations in KCNJ2, encoding for the potassium inwardly rectifying channel, Kir2.
Silvestri G. (4130998), Rizzo V. (4131001), Modoni A. (4131013), Pagliarani S. (4131007), Sanna T. (4131016), Bianchi M.L.E. (4131004), Vitulano N. (4131010), Perna F. (4130995)   +7 more
core   +1 more source

A case with classical triad of Andersen Tawil Sydrome and KCNJ2:c,919A>G mutation

, 2018
Andersen-Tawil Syndrome (ATS) is a rare channelopathy with distinctive features of periodic paralytic attacks, ventricular arrhythmias with long QT interval and dysmorphic features. The syndrome shows a high degree of phenotypic heterogeneity.
Hatice Kemal, Sevda Diker, Pınar Gelener, Senem Mut   +3 more
core  

Identification of fatty acid metabolism signature genes in patients with pulmonary arterial hypertension using WGCNA and machine learning

Journal of International Medical Research
Objective To investigate the signature genes of fatty acid metabolism and their association with immune cells in pulmonary arterial hypertension (PAH). Methods Fatty acid metabolism-related genes were obtained from the GeneCards database.
Xibang Liu, Dandan Wu, Chunmiao Bao, Zeen Huang, Weiwei Wang, Lili Sun, Lin Qiu   +6 more
doaj   +1 more source

A Novel Neuropsychiatric Phenotype of Kcnj2 Mutation in One Taiwanese Family with Andersen-Tawil Syndrome

, 2011
Tawil syndrome (ATS) is a rare familial potassium channelopathy characterized by the clinical triad of periodic paralysis, cardiac arrhythmia and dysmorphic facial /skeletal features. The majority of ATS patients are caused by mutations of the KCNJ2 gene,
CHAN, HOI-FONG;CHEN, MENG-LING;SU, JEN-JEN;KO, LI-CHIN;LIN, CHIN-HSIEN;WU, RUEY-MEEI, 陳凱峰;陳孟伶;蘇真真;柯孋衿;林靜嫻;吳瑞美   +1 more
core  

A Novel KCNJ2 Nonsense Mutation, S369X, Impedes Trafficking and Causes a Limited Form of Andersen-Tawil Syndrome

, 2011
Background— Mutations in KCNJ2 , a gene encoding the inward rectifier K + channel Kir2.1, are associated with Andersen-Tawil syndrome (ATS), which is ...
Takahiro Doi, Takeshi Morimoto, Takeru Makiyama, Takeshi Kimura, Keiko Tsuji, Seiko Ohno, Yoshiaki Takahashi, Minoru Horie, Yoshisumi Haruna, Masaharu Akao   +9 more
core   +1 more source

Analysis of KCNJ2 Variants Associated with Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White (WPW) syndrome is a cardiac disorder characterized by an accessory electrical pathway, leading to tachycardia and arrhythmias. It is diagnosed via electrocardiogram (ECG), showing a shortened PR interval and delta wave.
Vanterpool, Elaine, Bautista, Kerenlaime
core  

Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome

, 2016
Variants in potassium channel KCNJ2 cause Andersen-Tawil Syndrome (ATS); the induced craniofacial anomalies (CFAs) are entirely unexplained. We show that KCNJ2 is expressed in Xenopus and mouse during the earliest stages of craniofacial development ...
Michael Levin (21355), Adrian Devitt-Lee (20047551), Sebastien Uzel (20047545), Pamela Yelick (20047548), Jin Akagi (165432), Viktoria Andreeva (517096), Donald Wlodkowic (18025174), Dany Adams (20035461), Jean-Francois Pare (20047554)   +8 more
core  

Probing the cardiac Kir2.1-Nav1.5 channelosome using trafficking and gating-defective arrhythmia-associated KCNJ2 variants

Kir2.1 potassium channels (encoded by KCNJ2) contribute to the inward rectifier K+ current that provides ventricular myocytes a stable resting potential and participates in terminal cardiac action potential repolarization.
Stuart, A Graham, Hancox, Jules C, Carr, Joseph, Harmer, Stephen C   +3 more
core   +1 more source

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