About: Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Methods: The entire coding sequence of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was analyzed in 45 (five females) CAD individuals-survivors of documented VF and in 90 matched healthy controls. In another control group of 141 matched patients with CAD without malignant arrhythmias, the exons containing rare coding variants found in the VF survivors were sequenced. Results: The carrier frequency of all the rare sequence variants was significantly higher in the VF survivors (8/45, 17.8%) than in CAD controls (3/141, 2.2%, P = 0.001). In VF survivors, four coding variants in eight individuals were found. Three in KCNH2 gene: R148W and GAG186del are novel; P347S was previously related to long QT syndrome. In SCN5A gene, P2006A variant was found in five unrelated males. This variant has been demonstrated previously to have small effect on sodium channel kinetics. No rare coding variants were found in the healthy controls. The P2006A variant was found in three CAD controls. Methods: The entire coding sequence of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 genes was analyzed in 45 (five females) CAD individuals-survivors of documented VF and in 90 matched healthy controls. In another control group of 141 matched patients with CAD without malignant arrhythmias, the exons containing rare coding variants found in the VF survivors were sequenced. Results: The carrier frequency of all the rare sequence variants was significantly higher in the VF survivors (8/45, 17.8%) than in CAD controls (3/141, 2.2%, P = 0.001). In VF survivors, four coding variants in eight individuals were found. Three in KCNH2 gene: R148W and GAG186del are novel; P347S was previously related to long QT syndrome. In SCN5A gene, P2006A variant was found in five unrelated males. This variant has been demonstrated previously to have small effect on sodium channel kinetics. No rare coding variants were found in the healthy controls. The P2006A variant was found in three CAD controls. (en)
Title	Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease (en)
skos:prefLabel	Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease Mutation Analysis Ion Channel Genes Ventricular Fibrillation Survivors with Coronary Artery Disease (en)
skos:notation	RIV/00216224:14110/11:00080233!RIV15-MSM-14110___
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NR9340)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Raudenská, Martina Vašků, Anna
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	214392
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/11:00080233
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	sudden death; ventricular fibrillation; ion channel; mutation (en)
http://linked.open.../riv/klicoveSlovo	ventricular fibrillation mutation sudden death ion channel
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[A0174D468A1F]
http://linked.open...i/riv/nazevZdroje	PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY
http://linked.open...in/vavai/riv/obor	FA
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	13 (xsd:int)
http://linked.open...vavai/riv/projekt	Occurence of myocardial ion channel genes polymorphisms in relationship to sudden cardiac death in patients with structural heart disease
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	34
http://linked.open...iv/tvurceVysledku	Gaillyová, Renata Sepši, Milan Vašků, Anna Špinar, Jindřich Andršová, Irena Bittnerová, Alexandra Kozák, Milan Neugebauer, Petr Raudenská, Martina Křivan, Lubomír Florianova, Alena Kadlecova, Jitka Novotný, Tomas
http://linked.open...ain/vavai/riv/wos	000291395000018
issn	0147-8389
number of pages	8 (xsd:int)
http://bibframe.org/vocab/doi	10.1111/j.1540-8159.2011.03045.x
http://localhost/t...ganizacniJednotka	14110

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 58 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software