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Items: 1 to 20 of 104

1.
Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers
Esteban A. Lopera-Maya, Shuang Li, Remco de Brouwer, Ilja M. Nolte, Justin van Breen, The Netherlands A. C. M./P. L. N. Registry, Lifelines Cohort Study, Jan D. H. Jongbloed, Morris A. Swertz, Harold Snieder, Lude Franke, Cisca Wijmenga, Rudolf A. de Boer, Patrick Deelen, Paul A. van der Zwaag, Serena Sanna
J Cardiovasc Transl Res. 2023; 16(6): 1251–1266. Published online 2023 Jan 9. doi: 10.1007/s12265-022-10347-5
PMCID:
PMC10721704
AbstractArticlePDF–1.3M
2.
Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C
Carlos D. Vera, Amit Manhas, Sushma P. Shenoy, Matthew T. Wheeler, Karim Sallam, Joseph C. Wu
Stem Cell Res. Author manuscript; available in PMC 2022 Sep 15.
Published in final edited form as: Stem Cell Res. 2022 Aug; 63: 102834. Published online 2022 Jun 6. doi: 10.1016/j.scr.2022.102834
PMCID:
PMC9476586
AbstractArticlePDF–907K
3.
Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis
Elizabeth Vafiadaki, Kobra Haghighi, Demetrios A. Arvanitis, Evangelia G. Kranias, Despina Sanoudou
Int J Mol Sci. 2022 Jul; 23(13): 6947. Published online 2022 Jun 22. doi: 10.3390/ijms23136947
PMCID:
PMC9266971
AbstractArticlePDF–3.3M
4.
Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes
Beatrice Badone, Carlotta Ronchi, Francesco Lodola, Anika E. Knaust, Arne Hansen, Thomas Eschenhagen, Antonio Zaza
Int J Mol Sci. 2021 Dec; 22(24): 13500. Published online 2021 Dec 16. doi: 10.3390/ijms222413500
PMCID:
PMC8709382
AbstractArticlePDF–3.0M
5.
The Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy
Dries A.M. Feyen, Isaac Perea-Gil, Renee G.C. Maas, Magdalena Harakalova, Alexandra A. Gavidia, Jennifer Arthur Ataam, Ting-Hsuan Wu, Aryan Vink, Jiayi Pei, Nirmal Vadgama, Albert J. Suurmeijer, Wouter P. te Rijdt, Michelle Vu, Prashila L. Amatya, Maricela Prado, Yuan Zhang, Logan Dunkenberger, Joost P.G. Sluijter, Karim Sallam, Folkert W. Asselbergs, Mark Mercola, Ioannis Karakikes
Circulation. Author manuscript; available in PMC 2022 Aug 3.
Published in final edited form as: Circulation. 2021 Aug 3; 144(5): 382–392. Published online 2021 Apr 30. doi: 10.1161/CIRCULATIONAHA.120.049844
PMCID:
PMC8667423
AbstractArticlePDF–1.6M
6.
An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation
Eduarde Rohner, Nevin Witman, Jesper Sohlmer, Erwin De Genst, William E. Louch, Makoto Sahara, Kenneth R. Chien
Mol Med. 2021; 27: 102. Published online 2021 Sep 8. doi: 10.1186/s10020-021-00362-8
PMCID:
PMC8425124
AbstractArticlePDF–2.8M
7.
Molecular noise filtering in the β-adrenergic signaling network by phospholamban pentamers
Daniel Koch, Alexander Alexandrovich, Florian Funk, Ay Lin Kho, Joachim P. Schmitt, Mathias Gautel
Cell Rep. 2021 Jul 27; 36(4): 109448. Published online 2021 Jul 27. doi: 10.1016/j.celrep.2021.109448
PMCID:
PMC8333238
AbstractArticle
8.
Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers–reaching the frontiers of individual risk prediction
Tom E Verstraelen, Freyja H M van Lint, Laurens P Bosman, Remco de Brouwer, Virginnio M Proost, Bob G S Abeln, Karim Taha, Aeilko H Zwinderman, Cathelijne Dickhoff, Toon Oomen, Bas A Schoonderwoerd, Gerardus P Kimman, Arjan C Houweling, Juan R Gimeno-Blanes, Folkert W Asselbergs, Paul A van der Zwaag, Rudolf A de Boer, Maarten P van den Berg, J Peter van Tintelen, Arthur A M Wilde
Eur Heart J. 2021 Aug 1; 42(29): 2842–2850. Published online 2021 Jun 11. doi: 10.1093/eurheartj/ehab294
PMCID:
PMC8325776
AbstractArticlePDF–1.4M
9.
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
Friederike Cuello, Anika E Knaust, Umber Saleem, Malte Loos, Janice Raabe, Diogo Mosqueira, Sandra Laufer, Michaela Schweizer, Petra van der Kraak, Frederik Flenner, Bärbel M Ulmer, Ingke Braren, Xiaoke Yin, Konstantinos Theofilatos, Jorge Ruiz‐Orera, Giannino Patone, Birgit Klampe, Thomas Schulze, Angelika Piasecki, Yigal Pinto, Aryan Vink, Norbert Hübner, Sian Harding, Manuel Mayr, Chris Denning, Thomas Eschenhagen, Arne Hansen
EMBO Mol Med. 2021 Jun 8; 13(6): e13074. Published online 2021 May 16. doi: 10.15252/emmm.202013074
PMCID:
PMC8185541
AbstractArticlePDF–2.6M
10.
Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers
Rutger R. van de Leur, Karim Taha, Max N. Bos, Jeroen F. van der Heijden, Deepak Gupta, Maarten J. Cramer, Rutger J. Hassink, Pim van der Harst, Pieter A. Doevendans, Folkert W. Asselbergs, René van Es
Circ Arrhythm Electrophysiol. 2021 Feb; 14(2): e009056. Published online 2021 Jan 5. doi: 10.1161/CIRCEP.120.009056
PMCID:
PMC7892204
AbstractArticlePDF–793K
11.
Therapeutic Molecular Phenotype of β-blocker Associated Reverse-remodeling in Nonischemic Dilated Cardiomyopathy
David Kao, Brian Lowes, Edward Gilbert, Wayne Minobe, L Elaine Epperson, Leslie Meyer, Debra Ferguson, Kirk Volkman, Ronald Zolty, Alastair Robertson, Douglas Borg, Robert Quaife, Michael Bristow
Circ Cardiovasc Genet. Author manuscript; available in PMC 2020 May 7.
Published in final edited form as: Circ Cardiovasc Genet. 2015 Apr; 8(2): 270–283. Published online 2015 Jan 30. doi: 10.1161/CIRCGENETICS.114.000767
PMCID:
PMC7205443
AbstractArticlePDF–815K
12.
Effects of the Arg9Cys and Arg25Cys Mutations on Phospholamban’s Conformational Equilibrium in Membrane Bilayers
Sarah E. D. Nelson, Kim N. Ha, Tata Gopinath, Mara H. Exline, Alessandro Mascioni, David D. Thomas, Gianluigi Veglia
Biochim Biophys Acta Biomembr. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Biochim Biophys Acta Biomembr. 2018 Jun; 1860(6): 1335–1341. Published online 2018 Mar 2. doi: 10.1016/j.bbamem.2018.02.030
PMCID:
PMC6428084
AbstractArticlePDF–1.2M
13.
PLN-encoded Phospholamban Mutation in a Large Cohort of Hypertrophic Cardiomyopathy Cases: Summary of the Literature and Implications for Genetic Testing
Andrew P. Landstrom, Babatunde A. Adekola, J. Martijn Bos, Steve R. Ommen, Michael J. Ackerman
Am Heart J. Author manuscript; available in PMC 2018 Dec 29.
Published in final edited form as: Am Heart J. 2011 Jan; 161(1): 165–171. doi: 10.1016/j.ahj.2010.08.001
PMCID:
PMC6311091
AbstractArticlePDF–476K
14.
Functional and Transcriptomic Insights into Pathogenesis of R9C Phospholamban Mutation using Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes
Delaine K. Ceholski, Irene C. Turnbull, Chi-Wing Kong, Simon Koplev, Joshua Mayourian, Przemek A. Gorski, Francesca Stillitano, Angelos A. Skodras, Mathieu Nonnenmacher, Ninette Cohen, Johan LM Björkegren, Daniel R. Stroik, Razvan L. Cornea, David D. Thomas, Ronald A. Li, Kevin D. Costa, Roger J. Hajjar
J Mol Cell Cardiol. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: J Mol Cell Cardiol. 2018 Jun; 119: 147–154. Published online 2018 May 9. doi: 10.1016/j.yjmcc.2018.05.007
PMCID:
PMC6039110
AbstractArticlePDF–1.0M
15.
Phospholamban as a Crucial Determinant of the Inotropic Response of Human Pluripotent Stem Cell–Derived Ventricular Cardiomyocytes and Engineered 3-Dimensional Tissue Constructs
Gaopeng Chen, Sen Li, Ioannis Karakikes, Lihuan Ren, Maggie Zi-Ying Chow, Anant Chopra, Wendy Keung, Bin Yan, Camie W.Y. Chan, Kevin D. Costa, Chi-Wing Kong, Roger J. Hajjar, Christopher S. Chen, Ronald A. Li
Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2018 Apr 4.
Published in final edited form as: Circ Arrhythm Electrophysiol. 2015 Feb; 8(1): 193–202. Published online 2014 Dec 10. doi: 10.1161/CIRCEP.114.002049
PMCID:
PMC5884688
AbstractArticlePDF–818K
16.
A Human Phospholamban Promoter Polymorphism in Dilated Cardiomyopathy Alters Transcriptional Regulation by Glucocorticoids
Kobra Haghighi, Guoli Chen, Yoji Sato, Guo-Chang Fan, Suiwen He, Fotis Kolokathis, Luke Pater, Ioannis Paraskevaidis, W. Keith. Jones, Gerald W. Dorn, II, Dimitrios Th. Kremastinos, Evangelia G. Kranias
Hum Mutat. Author manuscript; available in PMC 2016 Oct 21.
Published in final edited form as: Hum Mutat. 2008 May; 29(5): 640–647. doi: 10.1002/humu.20692
PMCID:
PMC5074532
AbstractArticlePDF–784K
17.
Cervical cancer systemic inflammation score: a novel predictor of prognosis
Ru-ru Zheng, Min Huang, Chu Jin, Han-chu Wang, Jiang-tao Yu, Lin-chai Zeng, Fei-yun Zheng, Feng Lin
Oncotarget. 2016 Mar 22; 7(12): 15230–15242. Published online 2016 Feb 14. doi: 10.18632/oncotarget.7378
PMCID:
PMC4924782
AbstractArticlePDF–1.2M
18.
Rigid Substrate Induces Esophageal Smooth Muscle Hypertrophy and EoE Fibrotic Gene Expression
Eugene Tkachenko, Renee Rawson, Elizabeth La, Taylor A. Doherty, Rachel Baum, Kellen Cavagnero, Atsushi Miyanohara, Ranjan Dohil, Richard C. Kurten, Seema S. Aceves
J Allergy Clin Immunol. Author manuscript; available in PMC 2017 Apr 1.
Published in final edited form as: J Allergy Clin Immunol. 2016 Apr; 137(4): 1270–1272.e1. Published online 2015 Nov 2. doi: 10.1016/j.jaci.2015.09.020
PMCID:
PMC4826849
ArticlePDF–250K
19.
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies
Maryam Fish, Gasnat Shaboodien, Sarah Kraus, Karen Sliwa, Christine E. Seidman, Michael A. Burke, Lia Crotti, Peter J. Schwartz, Bongani M. Mayosi
Sci Rep. 2016; 6: 22235. Published online 2016 Feb 26. doi: 10.1038/srep22235
Correction in:
Sci Rep. 2016; 6: 25863.
PMCID:
PMC4808831
AbstractArticlePDF–643K
20.
Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?
Despina Sanoudou, Fotis Kolokathis, Demetris Arvanitis, Kholoud Al-Shafai, Navaneethakrishnan Krishnamoorthy, Rachel J Buchan, Roddy Walsh, Dimitris Tsiapras, Paul JR Barton, Stuart A Cook, Dimitrios Kremastinos, Magdi Yacoub
Glob Cardiol Sci Pract. 2015; 2015(2): 29. Published online 2015 Jul 3. doi: 10.5339/gcsp.2015.29
PMCID:
PMC4614339
ArticlePDF–543K

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