Associated Papers
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
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
Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases.
Neubauer J et al.
International Journal of Legal Medicine, 2016
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