(Q29465809)

18 April 2017

TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT (English)

1 reference

Trans-2,3-enoyl-CoA reductase like

18 April 2017

0 references

1 reference

GOA release 2020-03-11

author

Mario Talajic

24

0 references

Abdelaziz Beqqali

Abdelaziz Beqqali

4

0 references

Arie O. Verkerk

Arie O Verkerk

25

0 references

Christine Mummery

Christine L Mummery

18

0 references

John D. Rioux

John D Rioux

27

0 references

Lihadh Al-Gazali

26

Lihadh Al-Gazali

1 reference

18 April 2017

20

Zoltan Kutalik

1 reference

18 April 2017

Harsha D Devalla

1

1 reference

18 April 2017

Roselle Gélinas

2

1 reference

18 April 2017

Elhadi H Aburawi

3

1 reference

18 April 2017

Philippe Goyette

5

1 reference

18 April 2017

Christian Freund

6

1 reference

18 April 2017

Marie-A Chaix

7

1 reference

18 April 2017

Rafik Tadros

8

1 reference

18 April 2017

Hui Jiang

9

1 reference

18 April 2017

Antony Le Béchec

10

1 reference

18 April 2017

Jantine J Monshouwer-Kloots

11

1 reference

18 April 2017

Tom Zwetsloot

12

1 reference

18 April 2017

Georgios Kosmidis

13

1 reference

18 April 2017

Frédéric Latour

14

1 reference

18 April 2017

Azadeh Alikashani

15

1 reference

18 April 2017

Maaike Hoekstra

16

1 reference

18 April 2017

Jurg Schlaepfer

17

1 reference

18 April 2017

Brian Stevenson

19

1 reference

18 April 2017

Antoine Af de Vries

21

1 reference

18 April 2017

Léna Rivard

22

1 reference

18 April 2017

Arthur Am Wilde

23

1 reference

18 April 2017

Zahurul A Bhuiyan

28

1 reference

18 April 2017

Robert Passier

29

1 reference

18 April 2017

24 October 2016

1 reference

18 April 2017

EMBO Molecular Medicine

1 reference

18 April 2017

8

1 reference

18 April 2017

1390-1408

1 reference

18 April 2017

12

1 reference

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Calcium fluxes involved in control of cardiac myocyte contraction

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

The regulation of sarco(endo)plasmic reticulum calcium-ATPases (SERCA).

18 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Atrial-like cardiomyocytes from human pluripotent stem cells are a robust preclinical model for assessing atrial-selective pharmacology.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Ca(2+) cycling properties are conserved despite bradycardic effects of heart failure in sinoatrial node cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

The mechanism of flecainide action in CPVT does not involve a direct effect on RyR2.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

CALM3 mutation associated with long QT syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Novel calmodulin mutations associated with congenital arrhythmia susceptibility

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Genetic testing for inherited cardiac disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Impact of genetics on the clinical management of channelopathies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Calmodulin mutations associated with recurrent cardiac arrest in infants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

A bioinformatic assay for pluripotency in human cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Cardiac metabolism and arrhythmias

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Effects of muscarinic receptor stimulation on Ca2+ transient, cAMP production and pacemaker frequency of rabbit sinoatrial node cells.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Polyunsaturated fatty acid modulation of voltage-gated ion channels

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Phosphorylation and other conundrums of Na/Ca exchanger, NCX1.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Altered cardiac myocyte Ca regulation in heart failure.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Genome-wide transcriptional profiling of human embryonic stem cells differentiating to cardiomyocytes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Lipids and cardiac arrhythmia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Rate of diastolic Ca release from the sarcoplasmic reticulum of intact rabbit and rat ventricular myocytes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Suppression of Early and Late Afterdepolarizations by Heterozygous Knockout of the Na+/Ca2+ Exchanger in a Murine Model.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Short communication: flecainide exerts an antiarrhythmic effect in a mouse model of catecholaminergic polymorphic ventricular tachycardia by increasing the threshold for triggered activity.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

A protocol describing the use of a recombinant protein-based, animal product-free medium (APEL) for human embryonic stem cell differentiation as spin embryoid bodies.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Regulation of systolic [Ca2+]i and cellular Ca2+ flux balance in rat ventricular myocytes by SR Ca2+, L-type Ca2+ current and diastolic [Ca2+]i

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Enhanced sarcolemmal Ca2+ efflux reduces sarcoplasmic reticulum Ca2+ content and systolic Ca2+ in cardiac hypertrophy.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5167130

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia

26 November 2018

1 reference

12 December 2020

Effects of flecainide and quinidine on human atrial action potentials. Role of rate-dependence and comparison with guinea pig, rabbit, and dog tissues

1 reference

12 December 2020

Phenotype variability in patients carrying KCNJ2 mutations

1 reference

12 December 2020

Catecholaminergic polymorphic ventricular tachycardia

1 reference

12 December 2020

Diagnostic clinical genome and exome sequencing

1 reference

12 December 2020

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy

1 reference

12 December 2020

Identifiers

DOI

10.15252/EMMM.201505719

1 reference

release_u7lz455vajezdglnd7qgzivdue

18 April 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/u7lz455vajezdglnd7qgzivdue

24 November 2022

mapped directly with Wikidata item

0 references

1 reference