| Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. | Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
Gibb J, Wall E, Fields E, Seale A, Armstrong C, Bamber A, Daubeney P, Jacobs-Pearson M, Marton T, Stals K, Low K, Kaski JP, Spentzou G. | 03/25/2024 |
| Downregulated expression of plakophilin-2 gene in patients with colon adenocarcinoma predicts an unfavorable prognosis and immune infiltrate. | Downregulated expression of plakophilin-2 gene in patients with colon adenocarcinoma predicts an unfavorable prognosis and immune infiltrate.
Dai M, Su Y, Wu Z. | 02/7/2024 |
| Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro. | Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro.
Nagler S, Ghoreishi Y, Kollmann C, Kelm M, Gerull B, Waschke J, Burkard N, Schlegel N., Free PMC Article | 10/28/2023 |
| Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence. | Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence.
Lluch A, Latorre J, Serena-Maione A, Espadas I, Caballano-Infantes E, Moreno-Navarrete JM, Oliveras-Cañellas N, Ricart W, Malagón MM, Martin-Montalvo A, Birchmeier W, Szymanski W, Graumann J, Gómez-Serrano M, Sommariva E, Fernández-Real JM, Ortega FJ., Free PMC Article | 08/30/2023 |
| The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain. | The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain.
Robles-Mezcua A, Ruíz-Salas A, Medina-Palomo C, Robles-Mezcua M, Díaz-Expósito A, Ortega-Jiménez MV, Gimeno-Blanes JR, Jiménez-Navarro MF, García-Pinilla JM., Free PMC Article | 08/9/2023 |
| Loss of Nuclear Envelope Integrity and Increased Oxidant Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular Substrate of ARVC. | Loss of Nuclear Envelope Integrity and Increased Oxidant Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular Substrate of ARVC.
Pérez-Hernández M, van Opbergen CJM, Bagwan N, Vissing CR, Marrón-Liñares GM, Zhang M, Torres Vega E, Sorrentino A, Drici L, Sulek K, Zhai R, Hansen FB, Christensen AH, Boesgaard S, Gustafsson F, Rossing K, Small EM, Davies MJ, Rothenberg E, Sato PY, Cerrone M, Jensen THL, Qvortrup K, Bundgaard H, Delmar M, Lundby A., Free PMC Article | 09/24/2022 |
| Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis. | Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.
Hylind RJ, Pereira AC, Quiat D, Chandler SF, Roston TM, Pu WT, Bezzerides VJ, Seidman JG, Seidman CE, Abrams DJ., Free PMC Article | 06/25/2022 |
| Decreased Expression of Plakophilin-2 and alphaT-Catenin in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers for Diagnosis. | Decreased Expression of Plakophilin-2 and αT-Catenin in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers for Diagnosis.
Hung PF, Chung FP, Hung CL, Lin YJ, Kuo TT, Liao JN, Chen YY, Pan CH, Shaw KP, Chen SA., Free PMC Article | 06/11/2022 |
| Modeling reduced contractility and impaired desmosome assembly due to plakophilin-2 deficiency using isogenic iPS cell-derived cardiomyocytes. | Modeling reduced contractility and impaired desmosome assembly due to plakophilin-2 deficiency using isogenic iPS cell-derived cardiomyocytes.
Inoue H, Nakamura S, Higo S, Shiba M, Kohama Y, Kondo T, Kameda S, Tabata T, Okuno S, Ikeda Y, Li J, Liu L, Yamazaki S, Takeda M, Ito E, Takashima S, Miyagawa S, Sawa Y, Hikoso S, Sakata Y., Free PMC Article | 03/26/2022 |
| Long non-coding RNA HCG11 enhances osteosarcoma phenotypes by sponging miR-1245b-5p that directly inhibits plakophilin 2. | Long non-coding RNA HCG11 enhances osteosarcoma phenotypes by sponging miR-1245b-5p that directly inhibits plakophilin 2.
Yan H, Zhou Y, Chen Z, Yan X, Zhu L., Free PMC Article | 02/26/2022 |
| Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. | Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers.
Svensson A, Platonov PG, Haugaa KH, Zareba W, Jensen HK, Bundgaard H, Gilljam T, Madsen T, Hansen J, Dejgaard LA, Karlsson LO, Gréen A, Polonsky B, Edvardsen T, Svendsen JH, Gunnarsson C., Free PMC Article | 12/25/2021 |
| Impaired function of epithelial plakophilin-2 is associated with periodontal disease. | Impaired function of epithelial plakophilin-2 is associated with periodontal disease.
Yu N, Zhang J, Phillips ST, Offenbacher S, Zhang S., Free PMC Article | 12/11/2021 |
| Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy. | Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.
Biernacka EK, Borowiec K, Franaszczyk M, Szperl M, Rampazzo A, Woźniak O, Roszczynko M, Śmigielski W, Lutyńska A, Hoffman P., Free PMC Article | 11/22/2021 |
| The genetic architecture of Plakophilin 2 cardiomyopathy. | The genetic architecture of Plakophilin 2 cardiomyopathy.
Dries AM, Kirillova A, Reuter CM, Garcia J, Zouk H, Hawley M, Murray B, Tichnell C, Pilichou K, Protonotarios A, Medeiros-Domingo A, Kelly MA, Baras A, Ingles J, Semsarian C, Bauce B, Celeghin R, Basso C, Jongbloed JDH, Nussbaum RL, Funke B, Cerrone M, Mestroni L, Taylor MRG, Sinagra G, Merlo M, Saguner AM, Elliott PM, Syrris P, van Tintelen JP, Regeneron Genetics Center, James CA, Haggerty CM, Parikh VN., Free PMC Article | 10/30/2021 |
| PPM1D accelerates proliferation and metastasis of osteosarcoma by activating PKP2. | PPM1D accelerates proliferation and metastasis of osteosarcoma by activating PKP2.
He XL, Xiao Q, Zhou ZP, Hui CY. | 07/3/2021 |
| Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation. | Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation.
Persampieri S, Pilato CA, Sommariva E, Maione AS, Stadiotti I, Ranalletta A, Torchio M, Dello Russo A, Basso C, Pompilio G, Tondo C, Casella M., Free PMC Article | 03/20/2021 |
| High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia. | High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Hermida A, Fressart V, Hidden-Lucet F, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Mansencal N, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller DI, Rouanet S, Charron P, Gandjbakhch E. | 09/5/2020 |
| Studied possible association of plakophilin-2 (PKP2) variants with catecholaminergic polymorphic ventricular tachycardia (CPVT) and exercise-associated, autopsy-negative sudden unexplained death in the young. | Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young.
Tester DJ, Ackerman JP, Giudicessi JR, Ackerman NC, Cerrone M, Delmar M, Ackerman MJ., Free PMC Article | 04/4/2020 |
| high PKP2 expression is not associated with poor survival in different gender of lung cancer patients, and is an unfavorable and independent prognostic biomarker for lung adenocarcinoma patients, but not for lung squamous carcinoma patients | Plakophilin-2 accelerates cell proliferation and migration through activating EGFR signaling in lung adenocarcinoma.
Hao XL, Tian Z, Han F, Chen JP, Gao LY, Liu JY. | 01/18/2020 |
| The prevalence of the majority of non-pathological genetic variations is similar in the Latvian ARVD-C patients and the European population. Possibly, pathogenic variations were found only in 10% of our registry patients, which could mean that PKP2 and DSG2 are not the most commonly affected genes in the Latvian population. | PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients.
Bidina L, Kupics K, Sokolova E, Pavlovics M, Dobele Z, Caunite L, Kalejs O, Gailite L., Free PMC Article | 06/23/2019 |
| Comparative analyses of the influenza-host protein interactomes identified PKP2 as a natural inhibitor of influenza A viruses polymerase complex. | Comparative influenza protein interactomes identify the role of plakophilin 2 in virus restriction.
Wang L, Fu B, Li W, Patil G, Liu L, Dorf ME, Li S., Free PMC Article | 11/17/2018 |
| Results identified common and rare variants within plakophilin 2 protein (PKP2) to be associated with left ventricular mass (LVM). | Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families.
Dueker ND, Guo S, Beecham A, Wang L, Blanton SH, Di Tullio MR, Rundek T, Sacco RL., Free PMC Article | 10/13/2018 |
| Our study describes various clinical parameters in ACM patients and a recessive plakophilin 2 mutation after a limited PKP2 gene sequencing. | Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation.
Ali M, Bhat IA, Hafeez I, Dar MI, Beig JR, Shah ZA, Iqbal K., Free PMC Article | 09/8/2018 |
| Authors show that the PKP2 gene encoding the desmosomal protein Plakophilin-2 is a novel direct transcriptional target of Wnt/beta-catenin in normal and colon cancer-associated fibroblasts. | The human PKP2/plakophilin-2 gene is induced by Wnt/β-catenin in normal and colon cancer-associated fibroblasts.
Niell N, Larriba MJ, Ferrer-Mayorga G, Sánchez-Pérez I, Cantero R, Real FX, Del Peso L, Muñoz A, González-Sancho JM., Free PMC Article | 08/18/2018 |
| Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying two mutations in plakophilin-2 (PKP2) gene using non-integrative reprogramming method. | Generation of iPSC line from patient with arrhythmogenic right ventricular cardiomyopathy carrying mutations in PKP2 gene.
Khudiakov A, Kostina D, Zlotina A, Yany N, Sergushichev A, Pervunina T, Tomilin A, Kostareva A, Malashicheva A. | 07/7/2018 |