Results 11 to 20 of about 3,487 (142)

When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]

Annals of Noninvasive Electrocardiology
A 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
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Depolarization induces calcium-dependent BMP4 release from mouse embryonic palate mesenchymal cells [PDF]

Nature Communications
Bone Morphogenetic Protein (BMP) signaling is essential for craniofacial development, though little is known about the mechanisms that govern BMP secretion.
Mikaela L. Follmer, Trevor J. Isner, Yunus H. Ozekin, Claire H. Levitt, Carolyn L. Burek, Richard K. P. Benninger, Emily Anne Bates   +6 more
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Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. [PDF]

PLoS Computational Biology, 2017
Gain-of-function mutations in KCNJ2-encoded Kir2.1 channels underlie variant 3 (SQT3) of the short QT syndrome, which is associated with atrial fibrillation (AF).
Dominic G Whittaker, Haibo Ni, Aziza El Harchi, Jules C Hancox, Henggui Zhang   +4 more
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Up-Regulation of Kir2.1 (KCNJ2) by the Serum & Glucocorticoid Inducible SGK3 [PDF]

Cellular Physiology and Biochemistry, 2014
Background/Aims: The serum & glucocorticoid inducible kinase SGK3, an ubiquitously expressed serine/threonine kinase, regulates a variety of ion channels.
Carlos Munoz, Tatsiana Pakladok, Ahmad Almilaji, Bernat Elvira, Niels Decher, Ekaterina Shumilina, Florian Lang   +6 more
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Adequate post-ischemic reperfusion of the mouse brain requires endothelial NFAT5 [PDF]

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
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Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study [PDF]

npj Genomic Medicine
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P = 
Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry, Mafalda Bourbon, Tim D. Spector, Pirro G. Hysi, Khalid A. Fakhro, Mario Falchi   +9 more
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Identification of fatty acid metabolism signature genes in patients with pulmonary arterial hypertension using WGCNA and machine learning [PDF]

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
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Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism [PDF]

BMC Nephrology
Background Familial hypokalemic periodic paralysis (HypoPP) is an uncommon genetic disorder characterized by recurrent episodes of muscle weakness and hypokalemia, typically starting in early adulthood. The existence of hyperthyroidism in the presence of
Zein Alabdin Hannouneh, C. Elena Cervantes, C. John Sperati, Mohamad Hanouneh   +3 more
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Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]

HeartRhythm Case Reports, 2017
Hanora A. Van Ert, BSN, Elise C. McCune, Kate M. Orland, MS, Kathleen R. Maginot, MD, Nicholas H. Von Bergen, MD, Craig T. January, MD, PhD, Lee L. Eckhardt, MD, FHRS   +6 more
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Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil

Zdravniški Vestnik, 2013
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns in electrocardiogram, periodic paralysis, and dysmorphic features.
Matjaž Šinkovec, Andrej Pernat, Matevž Jan, Bor Antolič, Jernej Kovač, Katarina Trebušak Podkrajšek, Maruša Debeljak   +6 more
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