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
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
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
The role of junctophilin proteins in cellular function.
Lehnart SE et al.
Physiological Reviews, 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
Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M et al.
Clinical Genetics, 2016
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