نتایج جستجو برای: hcn4

تعداد نتایج: 319  

Journal: :The New England journal of medicine 2006
Raffaella Milanesi Mirko Baruscotti Tomaso Gnecchi-Ruscone Dario DiFrancesco

We found that sinus bradycardia in members of a large family was associated with a mutation in the gene coding for the pacemaker HCN4 ion channel. Pacemaker channels of the sinoatrial node generate spontaneous activity and mediate cyclic AMP (cAMP)-dependent autonomic modulation of the heart rate. The mutation associated with bradycardia is located near the cAMP-binding site; functional analysi...

2015
Shanshan Chen Chuchu Wang Xiaojing Wang Chengqi Xu Manman Wu Pengxia Wang Xin Tu Qing K Wang

BACKGROUND Recent genome-wide association studies (GWAS) in European ancestry populations revealed several genomic loci for atrial fibrillation (AF). We previously replicated the 4q25 locus (PITX2) and 16q22 locus (ZFHX3) in the Chinese population, but not the KCNN3 locus on 1q21. With single-nucleotide polymorphism rs3807989 in CAV1 encoding caveolin-1, however, controversial results were repo...

Journal: :SLAS DISCOVERY: Advancing the Science of Drug Discovery 2021

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