Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy (Q33153519)

22 July 2017

title

Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy (English)

1 reference

22 July 2017

1 reference

3

Robert Kutys

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22 July 2017

4

Allen Burke

1 reference

22 July 2017

2

Renu Virmani

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22 July 2017

1

Wendy Creighton

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22 July 2017

publication date

1 February 2006

1 reference

The Journal of Molecular Diagnostics

22 July 2017

published in

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22 July 2017

volume

8

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22 July 2017

issue

1

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22 July 2017

page(s)

62-67

1 reference

Pathogenesis of unexplained drowning: new insights from a molecular autopsy

22 July 2017

cites work

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A novel mutation in FKBP12.6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia

21 June 2018

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Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2.

21 June 2018

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Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes

21 June 2018

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FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death

21 June 2018

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KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death

21 June 2018

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

21 June 2018

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

21 June 2018

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21 June 2018

Cardiac channelopathies

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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

21 June 2018

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21 June 2018

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

21 June 2018

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

21 June 2018

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

21 June 2018

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Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 June 2018

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

21 June 2018

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A single Na(+) channel mutation causing both long-QT and Brugada syndromes

21 June 2018

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

21 June 2018

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Shape, size, and distribution of Ca(2+) release units and couplons in skeletal and cardiac muscles

21 June 2018

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Malignant hyperthermia and central core disease: disorders of Ca2+ release channels

21 June 2018

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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

21 June 2018

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

21 June 2018

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Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmic reticulum protein genes

21 June 2018

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Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients

21 June 2018

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Electron cryomicroscopy and angular reconstitution used to visualize the skeletal muscle calcium release channel.

21 June 2018

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Calcium-induced release of calcium from the cardiac sarcoplasmic reticulum

21 June 2018

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Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

21 June 2018

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Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum

21 June 2018

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Primary structure and functional expression from cDNA of the cardiac ryanodine receptor/calcium release channel

21 June 2018

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Primary structure and distribution of a novel ryanodine receptor/calcium release channel from rabbit brain.

21 June 2018

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Bidirectional tachycardia in a child. A study using His bundle electrography

21 June 2018

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Clinical implications of cardiac ryanodine receptor/calcium release channel mutations linked to sudden cardiac death

21 June 2018

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31 October 2018

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Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

31 October 2018

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Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein

31 October 2018

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Sudden death risk in overt coronary heart disease: the Framingham Study

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16436635

12 December 2020

inferred from PubMed ID database lookup

Familial polymorphic ventricular arrhythmias: a quarter century of successful medical treatment based on serial exercise-pharmacologic testing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16436635

12 December 2020

inferred from PubMed ID database lookup

Effects of rapamycin on ryanodine receptor/Ca(2+)-release channels from cardiac muscle

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16436635

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.2353/JMOLDX.2006.050081

1 reference

release_sux63wniujderculsabhyqiyza

22 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sux63wniujderculsabhyqiyza

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1867562

1 reference

22 July 2017

1 reference