A novel KCNQ1 splicing mutation in patients with forme fruste LQT1 aggravated by hypokalemia-Reference-Cited by-同舟云学术

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A novel KCNQ1 splicing mutation in patients with forme fruste LQT1 aggravated by hypokalemia

Published:2014-08 Issue:2 Volume:64 Page:121-126
ISSN:0914-5087
Container-title:Journal of Cardiology
language:en
Short-container-title:Journal of Cardiology

Author:

Imai Michiko,Nakajima Tadashi,Kaneko Yoshiaki,Niwamae Nogiku,Irie Tadanobu,Ota Masaki,Iijima Takafumi,Tange Shoichi,Kurabayashi Masahiko

Funder

Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference21 articles.

1. Long QT syndrome;Goldenberg;J Am Coll Cardiol,2008

2. The genetic basis of long QT and short QT syndromes: a mutation update;Hedley;Hum Mutat,2009

3. Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome;Kanters;J Cardiovasc Electrophysiol,1998

4. Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts;Murray;Circulation,1999

5. Skipping of exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome;Zehelein;J Biol Chem,2006

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents;Frontiers in Physiology;2024-07-19

2. Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland;Journal of the American Heart Association;2023-07-18

3. Pathogenic mechanism and gene correction for LQTS-causing double mutations in KCNQ1 using a pluripotent stem cell model;Stem Cell Research;2019-07

4. Identification of a novel exon3 deletion of RYR2 in a family with catecholaminergic polymorphic ventricular tachycardia;Annals of Noninvasive Electrocardiology;2019-01-07

5. KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1;Journal of Medical Genetics;2017-03-06

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