Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications. Clin Genet 2013;83:370-4.Shinwari ZM, Al-Hazzani A, Dzimiri N, Tulbah S, Mallawi Y, Al-Fayyadh M, et al. Identification of a novel KCNQ1 mutation ...
7 article A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact Laura Arbour, MSc, MD1, Saman Rezazadeh, PhD2, Jodene Eldstrom, PhD1,2, Gwen Weget-Simms, ...
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. The long QT syndrome (LQTS) is a cardiac disorder characterized by prolongation of the QT interval on electrocardiograms (ECGs), syncope and sudden death c... W Liu,J Yang,D Hu,... - 《Human Mutation》 ...
Long QT SyndromeAtrial FibrillationPotassium ChannelsAtrial 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...
acterisationofanovelKCNQ1mutationinafamilytIIRomano— Wardsyndrome[J].B/och/mB/o#rsAaa,2004,1690:185～92. 中国药理学通报ChinesePharmacologicalBulletin2007Dec;23(12)?1551? [18]IngeRB,AdamLR,NatachaO.eta1.FuncdonMeffectsofa KCNQ1mutationassociatedwiththelongQTsyndrome[J].Card- iogw~cRes...
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. A genetic basis has been identified linking the disease to mutations in KCNH2 in the familial forms and a mutation in KCNQ1 in a sporadic form of ... K Hong,P Bjerregaard,I Gussak,... - 《Journal of Cardiovascular ...
Characterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes. Stem Cell Res. Ther. 6, 39 (2015). Article PubMed PubMed Central CAS Google ...
A mutation was found in the first transmembrane spanning domain of the potassium channel gene, KCNQ1, resulting in serine-glycine substitution (S140G). Mutations in other residues throughout this gene cause long QT syndrome type 1 (LQT1). 展开 ...
long QT syndrome and LQT2、LQT5、LQT6 的致病基因。 sudden death?[J].Forensic Sci Int Genet,2007,1(2): 本研究在对 LOTS 的 4 个常见致病基因进行筛选 170—174. 后共发现 14 个突变位点,其中 3 个位于内含子.11 个 [5] Splawski
PekingUniversity,Beijing100044,ChinaoflongQTsyndromeCorrespondingauthor:HUDa-yi.Email:heart@public.#net.cn.net【Abstract】0bjectiveprolongationofQTintervalspecificmulti.polymorphicventriculartachyarrhythmiaknownastorsdaedepointes.LQTSiscausedbymutationsincardiacsodiumchannelgeneSCN5A;potassiumchannelsubunitgenesKCNQl,KC...