Ruiwu Wang

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

Mark J. Specterman, Sixuan Alicia Tan, Ruiwu Wang, John Paul Estillore et autres

We describe a case of unexplained cardiac arrest (UCA) and its ensuing investigation, highlighting the need for integrating genomic, functional and clinal data to diagnose the underlying cause. The research reported in this paper adhered to Helsinki Declaration as revised in 2013 …

gb, ca (code pays fourni par la source)

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

David C Johnson, Mark J. Specterman, Shanshan Tian, Ruiwu Wang et autres

gb, ca (code pays fourni par la source)

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

Julia C. Isbister, Shanshan Tian, Ruiwu Wang, John Paul Estillore et autres

Importance: Calcium release deficiency syndrome (CRDS) is a recently described inherited arrhythmia caused by loss-of-function variants in the cardiac ryanodine receptor (RYR2). Diagnosis currently requires in vitro functional testing and availability limits diagnosis; a recently proposed burst pacing provocation test offers a …

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

Auke T. Bergeman, Peter Lauffer, Johanna C. Herkert, Frederik MA van den Heuvel et autres

nl (code pays fourni par la source)

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

Saif Dababneh, Jason D. Roberts, Sixuan Tan, Jinhong Wei et autres

Overlapping neuropsychiatric and cardiac features in rare monogenic syndromes stem from shared gene expression. Pathogenic gain-of-function RYR2 variants, leading to a lethal cardiac arrhythmia syndrome known as catecholaminergic polymorphic ventricular tachycardia (CPVT), have also been associated with neuropsychiatric disorders such as epilepsy, …

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

Saif Dababneh, Jason D. Roberts, Sixuan Tan, Jinhong Wei et autres

Overlapping neuropsychiatric and cardiac features in rare monogenic syndromes stem from shared gene expression. Pathogenic gain-of-function RYR2 variants, leading to a lethal cardiac arrhythmia syndrome known as catecholaminergic polymorphic ventricular tachycardia (CPVT), have also been associated with neuropsychiatric disorders such as epilepsy, …

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

Saif Dababneh, Jason D. Roberts, Sixuan Tan, Jinhong Wei et autres

Overlapping neuropsychiatric and cardiac features in rare monogenic syndromes stem from shared gene expression. Pathogenic gain-of-function RYR2 variants, leading to a lethal cardiac arrhythmia syndrome known as catecholaminergic polymorphic ventricular tachycardia (CPVT), have also been associated with neuropsychiatric disorders such as epilepsy, …

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A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri et autres

The 1,4,5-trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss-of-function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain-of-function mutation in the highly conserved suppressor domain of ITPR1 has been …

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

Pengcheng Wang, Kristan H. Cleveland, Ayaz Shahid, Chathurika Rathnayaka et autres

Epidermal growth factor (EGF) induces anchorage-independent growth in promotion-sensitive (P + ) mouse epidermal cell model JB6 primarily through activation of the MAPK/ERK signaling pathway. The β-blocker carvedilol inhibits EGF-promoted JB6 transformation, but the underlying mechanism is unknown. Since carvedilol suppresses overactivated …

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Abstract Fri083: A Cardiac Ryanodine Receptor C-terminal Truncation Causes Calcium Release Deficiency Syndrome, but not Catecholaminergic Polymorphic Ventricular Tachycardia

Shanshan Tian, Mingke Ni, Hui Wang, Hai‐Lei Zhu et autres

The cardiac ryanodine receptor (RyR2) controls the release of Ca 2+ from the sarcoplasmic reticulum (SR) and plays an essential role in excitation-contraction coupling in cardiomyocytes. Defective RyR2 function because of naturally occurring RyR2 variants can cause cardiac arrhythmias, cardiomyopathies, and sudden …

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

Bo Sun, Mingke Ni, Yanhui Li, Zhenpeng Song et autres

BACKGROUND: Ca 2+ mishandling in cardiac Purkinje cells is a well-known cause of cardiac arrhythmias. The Purkinje cell resident inositol 1,4,5-trisphosphate receptor 1 (ITPR1) is believed to play an important role in Ca 2+ handling, and ITPR1 gain-of-function (GOF) has been implicated …

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A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome

Mingke Ni, Ziv Dadon, Julian O.M. Ormerod, Johan B. Saenen et autres

Importance: Sudden death and cardiac arrest frequently occur without explanation, even after a thorough clinical evaluation. Calcium release deficiency syndrome (CRDS), a life-threatening genetic arrhythmia syndrome, is undetectable with standard testing and leads to unexplained cardiac arrest. Objective: To explore the cardiac …

ca, il, gb, be, nl, dk, fr, it, us (code pays fourni par la source)