(Q44626982)

English

Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms

scientific article published on November 1, 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

molecular genetics

1 reference

based on heuristic

inferred from title

ventricular tachycardia

1 reference

based on heuristic

inferred from title

genetic polymorphism

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14571276

23 March 2024

1 reference

10.1038/SJ.EJHG.5201061

https://api.crossref.org/works/10.1038/SJ.EJHG.5201061

23 March 2024

author name string

Heikki Swan

2

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Kimmo Kontula

3

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Päivi J. Laitinen

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14571276

23 March 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14571276

23 March 2024

publication date

1 November 2003

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

full work available at URL

https://www.nature.com/articles/5201061.pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14571276

23 March 2024

http://www.nature.com/articles/5201061.pdf

Portable Document Format

1 reference

10.1038/SJ.EJHG.5201061

https://api.crossref.org/works/10.1038/SJ.EJHG.5201061

23 March 2024

http://www.nature.com/articles/5201061

1 reference

10.1038/SJ.EJHG.5201061

https://api.crossref.org/works/10.1038/SJ.EJHG.5201061

23 March 2024

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

888-891

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor. Proteins of the cardiac junctional sarcoplasmic reticulum membrane

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Association of triadin with the ryanodine receptor and calsequestrin in the lumen of the sarcoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Cardiac excitation-contraction coupling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Characterization of cardiac calsequestrin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Familial polymorphic ventricular tachycardia--intracellular calcium channel disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

21 January 2018

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201061

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201061

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

ResearchGate publication ID

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