Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of applied genetics"
DOI: 10.1007/s13353-021-00647-y
Abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most common cause of the disease, associated with conventional ARVC phenotype. The study… read more here.
Keywords: arvc; ventricular cardiomyopathy; right ventricular; pkp2 ... See more keywords
CRISPR/Cas9 library screening uncovered methylated PKP2 as a critical driver of lung cancer radioresistance by stabilizing β-catenin
Sign Up to like & getrecommendations! Published in 2021 at "Oncogene"
DOI: 10.1038/s41388-021-01692-x
Abstract: Radiation resistance is a major cause of lung cancer treatment failure. Armadillo (ARM) superfamily proteins participate in various fundamental cellular processes; however, whether ARM proteins regulate radiation resistance is not fully understood. Here, we used… read more here.
Keywords: catenin; radioresistance; pkp2; lung cancer ... See more keywords
Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro.
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DOI: 10.1080/21688370.2022.2138061
Abstract: Previous data provided evidence for a critical role of desmosomes to stabilize intestinal epithelial barrier (IEB) function. These studies suggest that desmosomes not only contribute to intercellular adhesion but also play a role as signaling… read more here.
Keywords: barrier function; intestinal barrier; barrier; loss ... See more keywords
Progressive Reduction in Right Ventricular Contractile Function Attributable to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy
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DOI: 10.1161/circulationaha.120.049261
Abstract: Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder of desmosomal dysfunction, and PKP2 (plakophilin-2) has been reported to be the most common disease-causing gene when mutation-positive. In the early concealed phase, the ACM heart… read more here.
Keywords: pkp2 het; pkp2; actin expression; contraction ... See more keywords
Exercise Causes Arrhythmogenic Remodeling of Intracellular Calcium Dynamics in Plakophilin-2–Deficient Hearts
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DOI: 10.1161/circulationaha.121.057757
Abstract: Background: Exercise training, and catecholaminergic stimulation, increase the incidence of arrhythmic events in patients affected with arrhythmogenic right ventricular cardiomyopathy correlated with plakophilin-2 (PKP2) mutations. Separate data show that reduced abundance of PKP2 leads to… read more here.
Keywords: ryanodine receptor; pkp2; deficient hearts; exercise ... See more keywords
A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Sign Up to like & getrecommendations! Published in 2018 at "Medical Journal of the Islamic Republic of Iran"
DOI: 10.14196/mjiri.32.5
Abstract: Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were… read more here.
Keywords: phenotypic variability; pkp2; pkp2 mutation; mutation ... See more keywords
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2021.635141
Abstract: Background: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder with an estimated prevalence between 1:2,000 and 1:5,000 and is characterized by the fibrofatty replacement of cardiomyocytes that predisposes to malignant arrhythmias, heart failure, and sudden cardiac… read more here.
Keywords: death; family; pkp2; molecular autopsy ... See more keywords
Structural characterization and anti-inflammatory activity of a novel polysaccharide PKP2-1 from Polygonatum kingianum
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Nutrition"
DOI: 10.3389/fnut.2023.1156798
Abstract: Introduction This study aimed to investigate the structure characterization and antiinflammatory activity of a novel polysaccharide, PKP2-1, from the rhizomes of Polygonatum kingianum Coll. and Hemsl. Methods We isolated a novel polysaccharide, PKP2-1, from the… read more here.
Keywords: polygonatum kingianum; novel polysaccharide; polysaccharide pkp2; anti inflammatory ... See more keywords