John P. Estillore

Calgary, AB T2N4N1, Canada

Last Updated: 09/26/2026

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Found 19 publications

Functional and clinical characterisation of the variant RYR2-P2159S in unexplained cardiac arrest reveals a diagnosis of calcium release deficiency syndrome.

Functional and clinical characterisation of the variant RYR2-P2159S in unexplained cardiac arrest reveals a diagnosis of calcium release deficiency syndrome.

Journal: Heart rhythm

Published: July 26, 2026

Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death.

Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death.

Journal: JAMA cardiology

Published: May 27, 2026

Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.

Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.

Journal: Circulation. Genomic and precision medicine

Published: April 10, 2026

Neurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.

Neurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.

Journal: Journal of neurogenetics

Published: February 26, 2026

Calcium release deficiency syndrome in unexplained sudden death: in vitro functional study of cardiac ryanodine receptor variants of uncertain significance.

Calcium release deficiency syndrome in unexplained sudden death: in vitro functional study of cardiac ryanodine receptor variants of uncertain significance.

Journal: European heart journal

Published: January 07, 2026

Potentiation of ryanodine receptor-mediated calcium release by MAPK is responsible for epidermal transformation and carcinogenesis.

Potentiation of ryanodine receptor-mediated calcium release by MAPK is responsible for epidermal transformation and carcinogenesis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 10, 2025

Inositol 1,4,5-Trisphosphate Receptor 1 Gain-of-Function Increases the Risk for Cardiac Arrhythmias in Mice and Humans.

Inositol 1,4,5-Trisphosphate Receptor 1 Gain-of-Function Increases the Risk for Cardiac Arrhythmias in Mice and Humans.

Journal: Circulation

Published: December 10, 2024

A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.

A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.

Journal: JAMA

Published: June 20, 2024

Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction.

Increased Ca2+ Transient Underlies RyR2-Related Left Ventricular Noncompaction.

Journal: Circulation research

Published: June 16, 2023

A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice.

A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice.

Journal: Journal of cellular physiology

Published: December 24, 2021

A Gain-of-function Mutation in the Gating Domain of ITPR1 Impairs Motor Movement and Increases Thermal and Mechanical Sensitivity.

A Gain-of-function Mutation in the Gating Domain of ITPR1 Impairs Motor Movement and Increases Thermal and Mechanical Sensitivity.

Journal: Neuroscience

Published: December 10, 2021

Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.

Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.

Journal: JAMA cardiology

Published: November 03, 2021

Showing 1-12 of 19

Last Updated: 09/26/2026