Associated Papers
Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.
Jiao K et al.
Bmc Cardiovascular Disorders, 2025
S165F mutation-induced Junctophilin-2 autoinhibition impairs Ca2+ signaling in hypertrophic cardiomyopathy.
Li Z et al.
Communications Biology, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Atrial remodelling and dysfunction in hypertrophic cardiomyopathy: prognostic role and therapeutic target.
Piazzai C et al.
Frontiers in Cardiovascular Medicine, 2025
One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2.
Parker LE et al.
Trends in Cardiovascular Medicine, 2023
The role of junctophilin proteins in cellular function.
Lehnart SE et al.
Physiological Reviews, 2022
Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations.
Yang ZF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.
van Wijk SW et al.
Cells, 2022
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca2+ Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca2+ Dynamics.
Gross P et al.
Circulation Research, 2021
Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants.
Miura A et al.
International Heart Journal, 2020
The SLMAP/Striatin complex: An emerging regulator of normal and abnormal cardiac excitation-contraction coupling.
Nader M
European Journal of Pharmacology, 2019
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The Integrative Regulatory Network of circRNA, microRNA, and mRNA in Atrial Fibrillation.
Jiang S et al.
Frontiers in Genetics, 2019
Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events.
Maurizi N et al.
Jama Cardiology, 2018
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
Calcium Signaling and Cardiac Arrhythmias.
Landstrom AP et al.
Circulation Research, 2017
Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.
Quick AP et al.
Jacc. Basic to Translational Science, 2017
Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M et al.
Clinical Genetics, 2016
Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy.
Bongini C et al.
The American Journal of Cardiology, 2016
Genetics of atrial fibrillation: from families to genomes.
Christophersen IE et al.
Journal of Human Genetics, 2016
Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.
Beavers DL et al.
Cardiovascular Research, 2014
Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.
Beavers DL et al.
Journal of the American College of Cardiology, 2013
Evaluating the functional and genomic analysis of pathogenic junctophilin-2 variants and their association with the pathogenesis of cardiomyopathy to understand their molecular impact on cardiac calcium homeostasis and disease phenotypes.
Siham MA
Annals of Pediatric Cardiology, 0