NKX2-6 mutation predisposes to familial atrial fibrillation

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NKX2-6 mutation predisposes to familial atrial fibrillation.

Atrial fibrillation (AF) is the most common form of sustained cardiac arrhythmia and is associated with substantially increased morbidity and mortality rates. Aggregating evidence demonstrates that genetic defects are involved in the pathogenesis of AF and a number of AF-associated genes have been identified. Nevertheless, AF is a genetically heterogeneous disorder and the genetic components un...

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A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias.

Dilated cardiomyopathy (DCM) is the most prevalent type of primary myocardial disease, which is the third most common cause of heart failure and the most frequent reason for heart transplantation. Aggregating evidence demonstrates that genetic risk factors are involved in the pathogenesis of idiopathic DCM. Nevertheless, DCM is of remarkable genetic heterogeneity and the genetic defects underpi...

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Connexin40 nonsense mutation in familial atrial fibrillation.

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia associated with substantial morbidity and mortality. Genetic variants play important roles in the pathogenesis of AF. However, AF is a genetically heterogeneous disorder, and the genetic determinants in most patients with AF remain to be identified. In this study, the entire coding region of the connexin40 gene, encoding t...

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KCNQ1 gain-of-function mutation in familial atrial fibrillation.

Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular etiology is poorly understood. We studied a family with hereditary persistent AF and identified the causative mutation (S140G) in the KCNQ1 (KvLQT1) gene on chromosome 11p15.5. The KCNQ1 gene encodes the pore-forming alpha subunit of the cardiac I(Ks) channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium chan...

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Prognosis in Familial Atrial Fibrillation

A trial fibrillation (AF) is a common arrhythmia associated with substantial morbidity and a markedly increased risk of ischemic stroke. It accounts for one third of all strokes in patients above the age of 65 and is also associated with an increased mortality. In recent years, risk models for AF prediction have been developed based on clinical and demographic variables. AF may also present as ...

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ژورنال

عنوان ژورنال: International Journal of Molecular Medicine

سال: 2014

ISSN: 1107-3756,1791-244X

DOI: 10.3892/ijmm.2014.1971