(Q28216442)

2

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Mirella Memmi

3

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Kimmo Kontula

4

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Päivi J Laitinen

Journal of Cellular Physiology

5

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language of work or name

English

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publication date

January 2002

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published in

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volume

190

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issue

1

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page(s)

1-6

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cites work

Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.

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Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

21 January 2018

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Cellular origins of the transient inward current in cardiac myocytes. Role of fluctuations and waves of elevated intracellular calcium

21 January 2018

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Na-Ca exchange and Ca fluxes during contraction and relaxation in mammalian ventricular muscle

21 January 2018

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Bell-shaped calcium-response curves of Ins(1,4,5)P3- and calcium-gated channels from endoplasmic reticulum of cerebellum

21 January 2018

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Early afterdepolarization formation in cardiac myocytes: analysis of phase plane patterns, action potential, and membrane currents

21 January 2018

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

21 January 2018

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Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.

21 January 2018

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FKBP12 binding modulates ryanodine receptor channel gating

21 January 2018

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Arg(615)Cys substitution in pig skeletal ryanodine receptors increases activation of single channels by a segment of the skeletal DHPR II-III loop

21 January 2018

1 reference

Phosphorylation of the purified cardiac ryanodine receptor by exogenous and endogenous protein kinases

21 January 2018

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In situ activation of the type 2 ryanodine receptor in pancreatic beta cells requires cAMP-dependent phosphorylation.

21 January 2018

1 reference

Genetics and pathogenesis of malignant hyperthermia

21 January 2018

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

21 January 2018

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

21 January 2018

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Reduced inhibitory effect of Mg2+ on ryanodine receptor-Ca2+ release channels in malignant hyperthermia.

21 January 2018

1 reference

Short-coupled variant of torsade de pointes. A new electrocardiographic entity in the spectrum of idiopathic ventricular tachyarrhythmias

21 January 2018

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

21 January 2018

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The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.

21 January 2018

1 reference

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

21 January 2018

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

21 January 2018

1 reference

Ca2+ signalling and muscle disease

21 January 2018

1 reference

Right ventricular dysplasia: a report of 24 adult cases

21 January 2018

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Cardiac intracellular calcium release channels: role in heart failure

21 January 2018

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Ryanodine receptors/calcium release channels in heart failure and sudden cardiac death

21 January 2018

1 reference

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

21 January 2018

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Phosphorylation-dependent regulation of ryanodine receptors: a novel role for leucine/isoleucine zippers

21 January 2018

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Ryanodine receptor mutations in malignant hyperthermia and central core disease

21 January 2018

1 reference

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

21 January 2018

1 reference

Abnormal uptake and release of Ca2+ ions from human malignant hyperthermia-susceptible sarcoplasmic reticulum

21 January 2018

1 reference

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

21 January 2018

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The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24

21 January 2018

1 reference

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

21 January 2018

1 reference

Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region

21 January 2018

1 reference

Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Caffeine and Halothane Sensitivity of Intracellular Ca2+ Release Is Altered by 15 Calcium Release Channel (Ryanodine Receptor) Mutations Associated with Malignant Hyperthermia and/or Central Core Disease

21 January 2018

1 reference

Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

21 January 2018

1 reference

Rapid adaptation of cardiac ryanodine receptors: modulation by Mg2+ and phosphorylation

21 January 2018

1 reference

Pathophysiologic mechanisms of cardiac arrhythmias

21 January 2018

1 reference