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Journal ArticleDOI
KCNQ1 gain-of-function mutation in familial atrial fibrillation
Yi-Han Chen,Shi-Jie Xu,Shi-Jie Xu,Saïd Bendahhou,Xiao-Liang Wang,Ying Wang,Wenyuan Xu,Hong-Wei Jin,Hao Sun,Xiaoyan Su,Qi-Nan Zhuang,Yiqing Yang,Yue-Bin Li,Yi Liu,Hong-Ju Xu,Xiao-Fei Li,Ning Ma,Chun-Ping Mou,Zhu Chen,Jacques Barhanin,Wei Huang,Wei Huang +21 more
TL;DR: Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and theKCNQ 1/ KCNE2 currents, which contrasts with the dominant negative or loss-of -function effects of the KCnQ1 mutations previously identified in patients with long QT syndrome.
Journal ArticleDOI
Variants conferring risk of atrial fibrillation on chromosome 4q25
Daniel F. Gudbjartsson,David O. Arnar,Anna Helgadottir,Solveig Gretarsdottir,Hilma Holm,Asgeir Sigurdsson,Adalbjorg Jonasdottir,Adam Baker,Gudmar Thorleifsson,Kristleifur Kristjansson,Arnar Palsson,Thorarinn Blondal,Patrick Sulem,Valgerdur M Backman,Gudmundur A. Hardarson,Ebba Palsdottir,Agnar Helgason,Runa Sigurjonsdottir,Jon Th. Sverrisson,Konstantinos Kostulas,Maggie C.Y. Ng,Larry Baum,Wing-Yee So,Ka Sing Wong,Juliana C.N. Chan,Karen L. Furie,Steven M. Greenberg,Michelle Sale,Peter J. Kelly,Calum A. MacRae,Eric E. Smith,Jonathan Rosand,Jan Hillert,Ronald C.W. Ma,Patrick T. Ellinor,Gudmundur Thorgeirsson,Jeffrey R. Gulcher,Augustine Kong,Unnur Thorsteinsdottir,Kari Stefansson +39 more
TL;DR: A genome-wide association scan is performed, followed by replication studies in three populations of European descent and a Chinese population from Hong Kong and a strong association is found between two sequence variants on chromosome 4q25 and AF.
Journal ArticleDOI
Parental Atrial Fibrillation as a Risk Factor for Atrial Fibrillation in Offspring
Caroline S. Fox,Caroline S. Fox,Helen Parise,Helen Parise,Ralph B. D'Agostino,Ralph B. D'Agostino,Donald M. Lloyd-Jones,Donald M. Lloyd-Jones,Ramachandran S. Vasan,Ramachandran S. Vasan,Thomas J. Wang,Thomas J. Wang,Daniel Levy,Daniel Levy,Philip A. Wolf,Philip A. Wolf,Emelia J. Benjamin,Emelia J. Benjamin +17 more
TL;DR: Parental AF increases the future risk for offspring AF, an observation supporting a genetic susceptibility to developing this dysrhythmia, and research into the genetic factors predisposing to AF is warranted.
Journal ArticleDOI
Identification of a Genetic Locus for Familial Atrial Fibrillation
Ramon Brugada,Terry Tapscott,Grazyna Czernuszewicz,Ali J. Marian,Anna Iglesias,Lluís Mont,Josep Brugada,Josep Girona,Anna Domingo,Linda L. Bachinski,Robert Roberts +10 more
TL;DR: Identification of the gene for familial atrial fibrillation will help to elucidate the molecular basis of the disease and provide insights into acquired forms and should accelerate the process of gene mapping in the future.
Journal ArticleDOI
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
Michael H. Gollob,Douglas L. Jones,Andrew D. Krahn,Lynne Danis,Xiang-Qun Gong,Qing Shao,Xiaoqin Liu,John P. Veinot,Anthony S.L. Tang,Alexandre F.R. Stewart,Frédérique Tesson,George Klein,Raymond Yee,Allan C. Skanes,Gerard M. Guiraudon,Lisa Ebihara,Donglin Bai +16 more
TL;DR: In this article, the authors identified four heterozygous missense mutations in GJA5, the gene encoding connexin 40, in 15 patients with idiopathic atrial fibrillation.