Lisa M. Wren

Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy

Lisa M. Wren, Jean‐Marc DeKeyser, David Y. Barefield, Nicole A. Hawkins et autres

BACKGROUND: Pathogenic variants in genes encoding CaM (calmodulin) are associated with a life-threatening ventricular arrhythmia syndrome (calmodulinopathy). The in vivo consequences of CaM variants have not been studied extensively and there is incomplete understanding of the genotype-phenotype relationship for recurrent variants. We …

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Family Screening in DCM

J. Travis Hinson, Lisa M. Wren

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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, Kristina Zguro et autres

The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 …

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Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant

Nicole A. Hawkins, Sunita N. Misra, Manuel Jurado, Seok Kyu Kang et autres

Developmental and epileptic encephalopathies (DEE) are a group of severe epilepsies that usually present with intractable seizures, developmental delay, and often have elevated risk for premature mortality. Numerous genes have been identified as a monogenic cause of DEE, including KCNB1. The voltage-gated …

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Abstract 14613: Preferential Release of Nerve Growth Factor by the Left Atrial Appendage - A New Mechanism Underlying Autonomic Nerve Remodeling in Persistent Atrial Fibrillation?

Anna Pfenniger, Shin Yoo, Wen‐Wei Zhang, Amy Burrell et autres

Introduction: Persistent atrial fibrillation (peAF) is accompanied by left atrial sympathetic and parasympathetic hyperinnervation. Although nerve growth factor (NGF) is a key factor for cardiac au...

Epilepsy and neurobehavioral abnormalities in mice with a KCNB1 pathogenic variant that alters conducting and non-conducting functions of K V 2.1

Nicole A. Hawkins, Sunita N. Misra, Manuel Jurado, Nicholas C. Vierra et autres

Abstract Developmental and epileptic encephalopathies (DEE) are a group of severe epilepsies that usually present with intractable seizures, developmental delay and are at a higher risk for premature mortality. Numerous genes have been identified as a monogenic cause of DEE, including KCNB1 …

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Region-specific parasympathetic nerve remodeling in the left atrium contributes to creation of a vulnerable substrate for atrial fibrillation

Georg Gussak, Anna Pfenniger, Lisa M. Wren, Mehul Gilani et autres

Atrial fibrillation (AF) is the most common heart rhythm disorder and a major cause of stroke. Unfortunately, current therapies for AF are suboptimal, largely because the molecular mechanisms underlying AF are poorly understood. Since the autonomic nervous system is thought to increase …

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Genetic Mosaicism in Calmodulinopathy

Lisa M. Wren, Juan Jiménez‐Jáimez, Saleh AlGhamdi, Jumana Y. Al‐Aama et autres

Background: CaM (calmodulin) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy) and are most often de novo. In this report, we sought to broaden the genotype-phenotype spectrum of calmodulinopathies with 2 novel calmodulin mutations and to investigate mosaicism in 2 affected families. …

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Abstract 19172: Genetic Mosaicism in Calmodulinopathy Associated With a Novel CALM3 Mutation

Lisa M. Wren, Juan Jiménez‐Jáimez, F Potet, Christopher N. Johnson et autres

Introduction: Calmodulin (CaM) mutations are associated with congenital arrhythmia susceptibility (calmodulinopathy). We identified a novel mutation (E141K) in CALM3 associated with ventricular arr...

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes

Daniel Pipilas, Christopher N. Johnson, Gregory Webster, Jürg Schlaepfer et autres

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Overexpression of Latent TGFβ Binding Protein 4 in Muscle Ameliorates Muscular Dystrophy through Myostatin and TGFβ

Kay‐Marie Lamar, Sasha Bogdanovich, Brandon Gardner, Quan Q. Gao et autres

Latent TGFβ binding proteins (LTBPs) regulate the extracellular availability of latent TGFβ. LTBP4 was identified as a genetic modifier of muscular dystrophy in mice and humans. An in-frame insertion polymorphism in the murine Ltbp4 gene associates with partial protection against muscular dystrophy. …

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Excess SMAD signaling contributes to heart and muscle dysfunction in muscular dystrophy

Sasha Bogdanovich, Anastasia Beiriger, Lisa M. Wren, Ann E. Rossi et autres

Disruption of the dystrophin complex causes muscle injury, dysfunction, cell death and fibrosis. Excess transforming growth factor (TGF) β signaling has been described in human muscular dystrophy and animal models, where it is thought to relate to the progressive fibrosis that characterizes …

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