Associated Papers
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
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
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.
Kim HY et al.
Journal of Clinical Medicine, 2020
Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M et al.
Clinical Genetics, 2016
Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.
Beavers DL et al.
Cardiovascular Research, 2014
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.
Landstrom AP et al.
Current Molecular Medicine, 2012
S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
Woo JS et al.
The Biochemical Journal, 2010
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
Matsushita Y et al.
Journal of Human Genetics, 2007
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