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Select item 107217041.

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

Abstract Article PDF–1.3M

Select item 94765862.

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

Abstract Article PDF–907K

Select item 92669713.

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

Abstract Article PDF–3.3M

Select item 87093824.

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

Abstract Article PDF–3.0M

Select item 86674235.

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

Abstract Article PDF–1.6M

Select item 84251246.

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

Abstract Article PDF–2.8M

Select item 83332387.

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

Abstract Article

Select item 83257768.

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

Abstract Article PDF–1.4M

Select item 81855419.

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

Abstract Article PDF–2.6M

Select item 789220410.

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

Abstract Article PDF–793K

Select item 720544311.

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

Abstract Article PDF–815K

Select item 642808412.

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

Abstract Article PDF–1.2M

Select item 631109113.

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

Abstract Article PDF–476K

Select item 603911014.

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

Abstract Article PDF–1.0M

Select item 588468815.

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

Abstract Article PDF–818K

Select item 507453216.

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

Abstract Article PDF–784K

Select item 492478217.

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

Abstract Article PDF–1.2M

Select item 482684918.

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

Article PDF–250K

Select item 480883119.

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

Abstract Article PDF–643K

Select item 461433920.

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

Article PDF–543K

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PMC Links for Gene (Select 5350) (104)
PMC
txid54388[Organism] (144)
GEO DataSets
Homo sapiens mRNA; cDNA DKFZp667F1514 (from clone DKFZp667F1514)
Homo sapiens mRNA; cDNA DKFZp667F1514 (from clone DKFZp667F1514)
gi|21734000|emb|AL833365.1|

Nucleotide
Mus musculus mitogen-activated protein kinase kinase kinase 1 (Map3k1), mRNA
Mus musculus mitogen-activated protein kinase kinase kinase 1 (Map3k1), mRNA
gi|101944545|ref|NM_011945.2|

Nucleotide

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