Associated Papers
Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.
Jiao K et al.
Bmc Cardiovascular Disorders, 2025
Altered myocardial lipid regulation in junctophilin-2-associated familial cardiomyopathies.
Lahiri SK et al.
Life Science Alliance, 2024
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
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
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
Evaluating the functional and genomic analysis of pathogenic junctophilin-2 variants and their association with the pathogenesis of cardiomyopathy to understand their molecular impact on cardiac calcium homeostasis and disease phenotypes.
Siham MA
Annals of Pediatric Cardiology, 0
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