Associated Papers
Calpain Mediated Proteolysis of Junctophilin-1 Produces an Aggregation Prone C-Terminal Fragment in Skeletal Muscle.
Tammineni ER et al.
Research Square, 2026
S165F mutation-induced Junctophilin-2 autoinhibition impairs Ca2+ signaling in hypertrophic cardiomyopathy.
Li Z et al.
Communications Biology, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Altered myocardial lipid regulation in junctophilin-2-associated familial cardiomyopathies.
Lahiri SK et al.
Life Science Alliance, 2024
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
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
Walsh R et al.
Nature Reviews. Cardiology, 2022
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Jones EG et al.
Scientific Reports, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.
Quick AP et al.
Jacc. Basic to Translational Science, 2017
JPH2 Mutant Gene Causes Familial Hypertrophic Cardiomyopathy: A Possible Model to Unravel the Subtlety of Calcium-Regulated Contractility.
Roberts R
Jacc. Basic to Translational Science, 2017
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