Associated Papers
S165F mutation-induced Junctophilin-2 autoinhibition impairs Ca2+ signaling in hypertrophic cardiomyopathy.
Li Z et al.
Communications Biology, 2025
Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.
Wang J et al.
Precision Clinical Medicine, 2025
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy.
Captur G et al.
Circulation. Genomic and Precision Medicine, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.
Zaffran S et al.
International Journal of Molecular Sciences, 2023
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
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Structural Capacitance in Protein Evolution and Human Diseases.
Li C et al.
Journal of Molecular Biology, 2018
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.
Calpena E et al.
Disease Models & Mechanisms, 2018
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.
Beavers DL et al.
Cardiovascular Research, 2014
Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.
Bennett HJ et al.
The Biochemical Journal, 2013
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
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.
Landstrom AP et al.
Current Molecular Medicine, 2012
Emerging role of junctophilin-2 as a regulator of calcium handling in the heart.
Garbino A et al.
Acta Pharmacologica Sinica, 2010
S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
Woo JS et al.
The Biochemical Journal, 2010
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
Landstrom AP et al.
Journal of Molecular and Cellular Cardiology, 2007