杂合子/纯合子Ala590Thr中的非典型长QT综合征表型 - Suppr

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超能文献

Atypical long QT syndrome phenotype in heterozygous/homozygous Ala590Thr.

作者信息

Smith Justin D, Vinocur Jeffrey M

机构信息

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York.

出版信息

HeartRhythm Case Rep. 2017 Jan 27;3(4):219-223. doi: 10.1016/j.hrcr.2017.01.007. eCollection 2017 Apr.

DOI:10.1016/j.hrcr.2017.01.007

PMID:28491806

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5419811/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3885/5419811/d4f2acca10b3/gr1.jpg

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本文引用的文献

Genetics of long-QT syndrome.长QT综合征的遗传学

J Hum Genet. 2016 Jan;61(1):51-5. doi: 10.1038/jhg.2015.74. Epub 2015 Jun 25.

A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.KCNQ1 C 端螺旋 D 区 A590T 突变降低 IKs 通道转运和功能但不影响 Yotiao 相互作用。

J Mol Cell Cardiol. 2014 Jul;72:273-80. doi: 10.1016/j.yjmcc.2014.03.019. Epub 2014 Apr 5.

IKs in heart and hearing, the ear can do with less than the heart.在心脏和听觉中，耳朵所需的（功能条件）比心脏少。

Circ Cardiovasc Genet. 2013 Apr;6(2):141-3. doi: 10.1161/CIRCGENETICS.113.000143.

Long-QT syndrome: from genetics to management.长QT综合征：从遗传学到治疗

Circ Arrhythm Electrophysiol. 2012 Aug 1;5(4):868-77. doi: 10.1161/CIRCEP.111.962019.

[Mutational analysis of LQT genes in individuals with drug induced QT interval prolongation].[药物诱导的QT间期延长个体中LQT基因的突变分析]

Vnitr Lek. 2006 Feb;52(2):116-8.

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.新生儿长QT综合征：与HERG突变相关的传导障碍以及与KCNQ1突变相关的窦性心动过缓。

J Am Coll Cardiol. 2004 Mar 3;43(5):826-30. doi: 10.1016/j.jacc.2003.09.049.

[RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)].[小儿年龄阶段的罕见心律失常。II. 阵发性心室颤动所致晕厥发作。（意大利儿科学文献中首例病例报告）]

Clin Pediatr (Bologna). 1963 Sep;45:656-83.

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death.先天性聋哑、伴有Q-T间期延长的功能性心脏病及猝死。

Am Heart J. 1957 Jul;54(1):59-68. doi: 10.1016/0002-8703(57)90079-0.

Mechanisms of I(Ks) suppression in LQT1 mutants.长QT综合征1型（LQT1）突变体中I(Ks)抑制的机制。

Am J Physiol Heart Circ Physiol. 2000 Dec;279(6):H3003-11. doi: 10.1152/ajpheart.2000.279.6.H3003.

A recessive variant of the Romano-Ward long-QT syndrome?罗曼诺-沃德长QT综合征的一种隐性变异？

Circulation. 1998 Jun 23;97(24):2420-5. doi: 10.1161/01.cir.97.24.2420.

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