Shanshan Tian
Calgary, AB, Canada
Last Updated: 09/26/2026
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Found 8 publications
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.
Journal: Circulation. Genomic and precision medicine
Published: April 10, 2026
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
A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.
Journal: JAMA
Published: June 20, 2024
RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
Journal: The Biochemical journal
Published: June 19, 2023
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.
Journal: Neuroscience
Published: December 10, 2021
Showing 1-8 of 8
Last Updated: 09/26/2026