Associated Papers
Functional analysis of JPH2-knockout cardiomyocytes identifies ECCD as a novel indicator in a human cardiac modelJPH2.
Guo T et al.
Stem Cell Research & Therapy, 2025
Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.
Popa-Fotea NM et al.
International Journal of Molecular Sciences, 2023
The Junctophilin-2 Mutation p.(Thr161Lys) Is Associated with Hypertrophic Cardiomyopathy Using Patient-Specific iPS Cardiomyocytes and Demonstrates Prolonged Action Potential and Increased Arrhythmogenicity.
Valtonen J et al.
Biomedicines, 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
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome.
Cepeda-Nieto AC et al.
Cardiology Journal, 2021
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
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
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing.
Teramoto R et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2018
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetic Misdiagnoses and the Potential for Health Disparities.
Manrai AK et al.
The New England Journal of Medicine, 2016
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
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
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 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
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
Matsushita Y et al.
Journal of Human Genetics, 2007