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
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
The MORN domain of Junctophilin2 regulates functional interactions with small-conductance Ca2+ -activated potassium channel subtype2 (SK2).
Luo T et al.
Biofactors (oxford, England), 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Functional interaction of Junctophilin 2 with small- conductance Ca2+ -activated potassium channel subtype 2(SK2) in mouse cardiac myocytes.
Fan HK et al.
Acta Physiologica (oxford, England), 2018
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.
Calpena E et al.
Disease Models & Mechanisms, 2018
Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure.
Vanninen SUM et al.
Plos One, 2018
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
Mutation in JPH2 cause dilated cardiomyopathy.
Sabater-Molina M et al.
Clinical Genetics, 2016
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.
Beavers DL et al.
Cardiovascular Research, 2014
Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.
Bennett HJ et al.
The Biochemical Journal, 2013
STIM1 negatively regulates Ca²⁺ release from the sarcoplasmic reticulum in skeletal myotubes.
Lee KJ et al.
The Biochemical Journal, 2013
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.
Landstrom AP et al.
Current Molecular Medicine, 2012
Emerging role of junctophilin-2 as a regulator of calcium handling in the heart.
Garbino A et al.
Acta Pharmacologica Sinica, 2010
S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
Woo JS et al.
The Biochemical Journal, 2010
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
Landstrom AP et al.
Journal of Molecular and Cellular Cardiology, 2007