junctophilin

01/01/2017 - "Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers."
01/01/2022 - "Recent studies have found that MORN motif-containing proteins junctophilin-1/2 and MORN3 play a role in cardiac hypertrophy, skeletal muscle fiber stability and cancer. "

11/19/2013 - "This study sought to study the role of junctophilin-2 (JPH2) in atrial fibrillation (AF). "
11/19/2013 - "Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization."
11/19/2013 - "Ca(2+) leak in atrial fibrillation: junctophilin-2 stabilizes ryanodine receptor."

01/01/2021 - "Our study expands the JPH3-associated mutational spectrum and clinical phenotypes, implicating the loss of Junctophilin-3 in heterogeneous neurodevelopmental phenotypes and early-onset paroxysmal movement disorders."

01/01/2022 - "Recent studies have found that MORN motif-containing proteins junctophilin-1/2 and MORN3 play a role in cardiac hypertrophy, skeletal muscle fiber stability and cancer. "

01/01/2019 - "Whereas pressure overload accrued atrial dysfunction and heart failure with 40% mortality, additional junctophilin-2 knockdown greatly exacerbated atrial dysfunction with 100% mortality. "
01/01/2018 - "Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure."
12/15/2016 - "Junctophilin-2 gene therapy rescues heart failure by normalizing RyR2-mediated Ca2+ release."
08/19/2014 - "Overexpression of junctophilin-2 does not enhance baseline function but attenuates heart failure development after cardiac stress."
06/23/2014 - "Increasing evidence suggests that T-tubule remodeling due to junctophilin-2 (JP-2) downregulation plays a critical role in the progression of heart failure. "