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Items: 1 to 20 of 115

1.
Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro
Simon Nagler, Yalda Ghoreishi, Catherine Kollmann, Matthias Kelm, Brenda Gerull, Jens Waschke, Natalie Burkard, Nicolas Schlegel
Tissue Barriers. 2023; 11(4): 2138061. Published online 2022 Oct 24. doi: 10.1080/21688370.2022.2138061
PMCID:
PMC10606776
AbstractArticlePDF–2.9M
2.
The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain
Ainhoa Robles-Mezcua, Amalio Ruíz-Salas, Carmen Medina-Palomo, María Robles-Mezcua, Arancha Díaz-Expósito, María Victoria Ortega-Jiménez, Juan Ramón Gimeno-Blanes, Manuel F. Jiménez-Navarro, José Manuel García-Pinilla
Genes (Basel) 2023 Jul; 14(7): 1468. Published online 2023 Jul 19. doi: 10.3390/genes14071468
PMCID:
PMC10379208
AbstractArticlePDF–1.1M
3.
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association with Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis
Robyn J. Hylind, Alexandre C. Pereira, Daniel Quiat, Stephanie F. Chandler, Thomas M. Roston, William T. Pu, Vassilios J. Bezzerides, Jonathan G. Seidman, Christine E. Seidman, Dominic J. Abrams
Circ Genom Precis Med. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Circ Genom Precis Med. 2022 Jun; 15(3): e003507. Published online 2022 May 10. doi: 10.1161/CIRCGEN.121.003507
PMCID:
PMC9400410
AbstractArticlePDF–470K
4.
Decreased Expression of Plakophilin-2 and αT-Catenin in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers for Diagnosis
Pei-Fang Hung, Fa-Po Chung, Chung-Lieh Hung, Yenn-Jiang Lin, Tzu-Ting Kuo, Jo-Nan Liao, Yun-Yu Chen, Chih-Hsin Pan, Kai-Ping Shaw, Shih-Ann Chen
Int J Mol Sci. 2022 May; 23(10): 5529. Published online 2022 May 16. doi: 10.3390/ijms23105529
PMCID:
PMC9141850
AbstractArticlePDF–3.4M
5.
Modeling reduced contractility and impaired desmosome assembly due to plakophilin-2 deficiency using isogenic iPS cell-derived cardiomyocytes
Hiroyuki Inoue, Satoki Nakamura, Shuichiro Higo, Mikio Shiba, Yasuaki Kohama, Takumi Kondo, Satoshi Kameda, Tomoka Tabata, Shota Okuno, Yoshihiko Ikeda, Junjun Li, Li Liu, Satoru Yamazaki, Maki Takeda, Emiko Ito, Seiji Takashima, Shigeru Miyagawa, Yoshiki Sawa, Shungo Hikoso, Yasushi Sakata
Stem Cell Reports. 2022 Feb 8; 17(2): 337–351. Published online 2022 Jan 20. doi: 10.1016/j.stemcr.2021.12.016
PMCID:
PMC8828557
AbstractArticlePDF–5.9M
6.
Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers
Anneli Svensson, Pyotr G. Platonov, Kristina H. Haugaa, Wojciech Zareba, Henrik Kjærulf Jensen, Henning Bundgaard, Thomas Gilljam, Trine Madsen, Jim Hansen, Lars A. Dejgaard, Lars O. Karlsson, Anna Gréen, Bronislava Polonsky, Thor Edvardsen, Jesper Hastrup Svendsen, Cecilia Gunnarsson
Cardiology. 2021 Dec; 146(6): 763–771. Published online 2021 Sep 1. doi: 10.1159/000519231
PMCID:
PMC8743907
AbstractArticle
7.
Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy
Elżbieta K. Biernacka, Karolina Borowiec, Maria Franaszczyk, Małgorzata Szperl, Alessandra Rampazzo, Olgierd Woźniak, Marta Roszczynko, Witold Śmigielski, Anna Lutyńska, Piotr Hoffman
J Appl Genet. 2021; 62(4): 613–620. Published online 2021 Jun 30. doi: 10.1007/s13353-021-00647-y
PMCID:
PMC8571136
AbstractArticlePDF–522K
8.
The genetic architecture of Plakophilin 2 cardiomyopathy
Annika M. Dries, Anna Kirillova, Chloe M. Reuter, John Garcia, Hana Zouk, Megan Hawley, Brittney Murray, Crystal Tichnell, Kalliopi Pilichou, Alexandros Protonotarios, Argelia Medeiros-Domingo, Melissa A. Kelly, Aris Baras, Jodie Ingles, Christopher Semsarian, Barbara Bauce, Rudy Celeghin, Cristina Basso, Jan D. H. Jongbloed, Robert L. Nussbaum, Birgit Funke, Marina Cerrone, Luisa Mestroni, Matthew R. G. Taylor, Gianfranco Sinagra, Marco Merlo, Ardan M. Saguner, Perry M. Elliott, Petros Syrris, J. Peter van Tintelen, Regeneron Genetics Center, Cynthia A. James, Christopher M. Haggerty, Victoria N. Parikh
Genet Med. 2021; 23(10): 1961–1968. Published online 2021 Jun 12. doi: 10.1038/s41436-021-01233-7
Correction in:
Genet Med. 2021; 23(10): 2014.
PMCID:
PMC8486657
AbstractArticlePDF–1.1M
9.
Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation
Simone Persampieri, Chiara Assunta Pilato, Elena Sommariva, Angela Serena Maione, Ilaria Stadiotti, Antonio Ranalletta, Margherita Torchio, Antonio Dello Russo, Cristina Basso, Giulio Pompilio, Claudio Tondo, Michela Casella
Genes (Basel) 2020 May; 11(5): 571. Published online 2020 May 20. doi: 10.3390/genes11050571
PMCID:
PMC7288341
AbstractArticlePDF–1.0M
10.
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
David J. Tester, Jaeger P. Ackerman, John R. Giudicessi, Nicholas C. Ackerman, Marina Cerrone, Mario Delmar, Michael J. Ackerman
JACC Clin Electrophysiol. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: JACC Clin Electrophysiol. 2019 Jan; 5(1): 120–127. Published online 2018 Nov 1. doi: 10.1016/j.jacep.2018.09.010
PMCID:
PMC6394846
AbstractArticlePDF–233K
11.
Pleiotropic Phenotypes Associated With PKP2 Variants
Valeria Novelli, Kabir Malkani, Marina Cerrone
Front Cardiovasc Med. 2018; 5: 184. Published online 2018 Dec 18. doi: 10.3389/fcvm.2018.00184
PMCID:
PMC6305316
AbstractArticlePDF–303K
12.
Clinical profile in arrhythmogenic cardiomyopathy and a recessive plakophilin-2 gene mutation
Muzaffar Ali, Imtiyaz A. Bhat, Imran Hafeez, Mohd Iqbal Dar, Jahangir Rashid Beig, Zafar Amin Shah, Khurshid Iqbal
Indian Heart J. 2018 May-Jun; 70(3): 421–426. Published online 2017 Oct 20. doi: 10.1016/j.ihj.2017.10.010
PMCID:
PMC6034022
AbstractArticlePDF–2.2M
13.
A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Nejat Mahdieh, Sedigheh Saedi, Mahdieh Soveizi, Bahareh Rabbani, Nasim Najafi, Majid Maleki
Med J Islam Repub Iran. 2018; 32: 5. Published online 2018 Feb 6. doi: 10.14196/mjiri.32.5
PMCID:
PMC6025913
AbstractArticlePDF–2.0M
14.
Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families
Nicole D. Dueker, Shengru Guo, Ashley Beecham, Liyong Wang, Susan H. Blanton, Marco R. Di Tullio, Tatjana Rundek, Ralph L. Sacco
G3 (Bethesda) 2018 Feb; 8(2): 659–668. Published online 2017 Dec 29. doi: 10.1534/g3.117.300358
PMCID:
PMC5919734
AbstractArticlePDF–1022K
15.
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation
Baerbel Klauke, Anna Gaertner-Rommel, Uwe Schulz, Astrid Kassner, Edzard zu Knyphausen, Thorsten Laser, Deniz Kececioglu, Lech Paluszkiewicz, Ute Blanz, Eugen Sandica, Antoon J. van den Bogaerdt, J. Peter van Tintelen, Jan Gummert, Hendrik Milting
PLoS One. 2017; 12(12): e0189489. Published online 2017 Dec 18. doi: 10.1371/journal.pone.0189489
PMCID:
PMC5734774
AbstractArticlePDF–2.4M
16.
Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population
Alex Hørby Christensen, Pia Rørbœk Kamstrup, Estelle Gandjbakhch, Marianne Benn, Jan Skov Jensen, Henning Bundgaard, Eric Villard, Anne Tybjærg-Hansen
Eur J Hum Genet. 2016 May; 24(5): 732–738. Published online 2015 Aug 12. doi: 10.1038/ejhg.2015.171
PMCID:
PMC4930081
AbstractArticlePDF–1.0M
17.
Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy
Mireia Alcalde, Oscar Campuzano, Paola Berne, Pablo García-Pavía, Ada Doltra, Elena Arbelo, Georgia Sarquella-Brugada, Anna Iglesias, Luis Alonso-Pulpon, Josep Brugada, Ramon Brugada
PLoS One. 2014; 9(6): e100560. Published online 2014 Jun 26. doi: 10.1371/journal.pone.0100560
PMCID:
PMC4072667
AbstractArticlePDF–569K
18.
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy
Ilena Egle Astrid Li Mura, Barbara Bauce, Andrea Nava, Manuela Fanciulli, Giovanni Vazza, Elisa Mazzotti, Ilaria Rigato, Marzia De Bortoli, Giorgia Beffagna, Alessandra Lorenzon, Martina Calore, Emanuela Dazzo, Carlo Nobile, Maria Luisa Mostacciuolo, Domenico Corrado, Cristina Basso, Luciano Daliento, Gaetano Thiene, Alessandra Rampazzo
Eur J Hum Genet. 2013 Nov; 21(11): 1226–1231. Published online 2013 Mar 13. doi: 10.1038/ejhg.2013.39
PMCID:
PMC3798844
AbstractArticlePDF–1.3M
19.
Recessive Arrhythmogenic Right Ventricular Dysplasia Due to Novel Cryptic Splice Mutation in PKP2
Mark M. Awad, Darshan Dalal, Crystal Tichnell, Cynthia James, April Tucker, Theodore Abraham, Philip J. Spevak, Hugh Calkins, Daniel P. Judge
Hum Mutat. Author manuscript; available in PMC 2009 Dec 30.
Published in final edited form as: Hum Mutat. 2006 Nov; 27(11): 1157. doi: 10.1002/humu.9461
PMCID:
PMC2799897
AbstractArticlePDF–3.7M
20.
Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque
J Cell Biol. 1996 Nov 2; 135(4): 1009–1025. doi: 10.1083/jcb.135.4.1009
PMCID:
PMC2133394
SummaryPDF–9.3M

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