Associated Papers
Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.
Jiao K et al.
Bmc Cardiovascular Disorders, 2025
The role of junctophilin proteins in cellular function.
Lehnart SE et al.
Physiological Reviews, 2022
Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants.
Miura A et al.
International Heart Journal, 2020
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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