Associated Papers
Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.
Jiao K et al.
Bmc Cardiovascular Disorders, 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
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S1
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
Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants.
Miura A et al.
International Heart Journal, 2020
Genetic Basis of Severe Childhood-Onset Cardiomyopathies.
Vasilescu C et al.
Journal of the American College of Cardiology, 2018
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
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