Results 101 to 110 of about 6,365 (192)

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

open access: yesJournal 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   +8 more
doaj   +1 more source

Heat shock transcription factor 1 preserves cardiac angiogenesis and adaptation during pressure overload [PDF]

open access: yes, 2008
To examine how heat shock transcription factor 1 (HSF1) protects against maladaptive hypertrophy during pressure overload, we subjected HSF1 transgenic (TG), knockout (KO) and wild type (WT) mice to a constriction of transverse aorta (TAC), and found ...
Aijun Sun   +16 more
core   +1 more source

Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism

open access: yesBMC 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   +3 more
doaj   +1 more source

Exploring the transcriptomic landscape of moyamoya disease and systemic lupus erythematosus: insights into crosstalk genes and immune relationships

open access: yesFrontiers in Immunology
BackgroundSystemic Lupus Erythematosus (SLE) is acknowledged for its significant influence on systemic health. This study sought to explore potential crosstalk genes, pathways, and immune cells in the relationship between SLE and moyamoya disease (MMD ...
Qingbao Guo   +31 more
doaj   +1 more source

Electrophysiological properties and pharmacological modulation of several transmembrane ion currents in mammalian hearts [PDF]

open access: yes, 2017
Cardiovascular diseases and in particular cardiac arrhythmias as ventricular fibrillation have a leading role in mortality in the developed countries. Accordingly, cardiac arrhythmias represent a major area of cardiovascular research.
Geramipour Amir Mohammad
core  

Genètica i esport [PDF]

open access: yes, 2009
La biomedicina ha experimentat grans avenços científics i tècnics en els darrers anys, especialment després de la descripció del genoma humà. Aquestes millores s’han aplicat gradualment a diversos àmbits, que han sobrepassat l’estudi de la patologia per ...
Brugada, Ramon   +3 more
core  

811-1 Frequency, spectrum, and phenotype of KCNJ2 mutations among patients referred for long QT (LQT) syndrome genetic testing: Is KCNJ2 LQT7?

open access: yesJournal of the American College of Cardiology, 2004
Rodriguez, Esther H   +3 more
openaire   +1 more source

Congenital Short QT Syndrome

open access: yesIndian Pacing and Electrophysiology Journal, 2010
The Short QT Syndrome is a recently described new genetic disorder, characterized by abnormally short QT interval, paroxysmal atrial fibrillation and life threatening ventricular arrhythmias. This autosomal dominant syndrome can afflict infants, children,
Lia Crotti   +3 more
doaj  

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