Renée Maas

193 Phospholamban R14del Cardiomyopathy: a systematic summary of the pathophysiological mechanisms 7 42: Feyen DAM, Perea-Gil I, Maas RGC, Harakalova M, Gavidia AA, Arthur Ataam J, Wu TH, Vink A, Pei J, Vadgama N, Suurmeijer AJ, Te Rijdt WP, Vu M, Amatya PL, Prado M, Zhang Y, Dunkenberger L, Sluijter JPG, Sallam K, Asselbergs FW, Mercola M, Karakikes I. Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy. Circulation. 2021 Aug 3;144(5):382-392. doi: 10.1161/CIRCULATIONAHA.120.049844. Epub 2021 Apr 30. PMID: 33928785; PMCID: PMC8667423. 43: Nguyen TV, Tran Vu MT, Do TNP, Tran THN, Do TH, Nguyen TMH, Tran Huynh BN, Le LA, Nguyen Pham NT, Nguyen TDA, Nguyen TMN, Le NHP, Pham Nguyen V, Ho Huynh TD. Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy. Circ J. 2021 Aug 25;85(9):1469-1478. doi: 10.1253/circj.CJ-21-0077. Epub 2021 May 20. PMID: 34011823. 44: Lopes RR, Bleijendaal H, Ramos LA, Verstraelen TE, Amin AS, Wilde AAM, Pinto YM, de Mol BAJM, Marquering HA. Improving electrocardiogram-based detection of rare genetic heart disease using transfer learning: An application to phospholamban p.Arg14del mutation carriers. Comput Biol Med. 2021 Apr;131:104262. doi: 10.1016/j.compbiomed.2021.104262. Epub 2021 Feb 11. PMID:33607378. 45: van de Leur RR, Taha K, Bos MN, van der Heijden JF, Gupta D, Cramer MJ, Hassink RJ, van der Harst P, Doevendans PA, Asselbergs FW, van Es R. Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers. Circ Arrhythm Electrophysiol. 2021 Feb;14(2):e009056. doi: 10.1161/CIRCEP.120.009056. Epub 2021 Jan 5. PMID: 33401921; PMCID: PMC7892204. 46: Taha K, Te Rijdt WP, Verstraelen TE, Cramer MJ, de Boer RA, de Bruin-Bon RHACM, Bouma BJ, Asselbergs FW, Wilde AAM, van den Berg MP, Teske AJ. Early Mechanical Alterations in Phospholamban Mutation Carriers: Identifying Subclinical Disease Before Onset of Symptoms. JACC Cardiovasc Imaging. 2021 May;14(5):885-896. doi: 10.1016/j.jcmg.2020.09.030. Epub 2020 Nov 18. Erratum in: JACC Cardiovasc Imaging. 2021 Jul;14(7):1493. PMID: 33221241. 47: Maas R, Pei J, Gaar-Humphreys K, Gho J, Nagyova E, Blok CS, Adrichem Iv, Es Rv, Sepehrkhouy S, Feyen D, Dungen Nvd, Lansu N, Calis J, Kaaij Nvd, de Jonge N, Laake Lv, Riele At, Huibers M, de Weger R, Verhaar MC, Tintelen JPv, Vaz F, Burgering B, Mil Av, Buikema J, Vink A, Karakikes I, Mercola M, Doevendans PA, Sluijter J, Steenbeek Fv, Cheng C, Mokry M, Asselbergs F, Harakalova M. Transcriptional regulation profiling reveals PPARA-mediated fatty acid oxidation as a novel therapeutic target in phospholamban R14del cardiomyopathy. Research Square; 2022. DOI: 10.21203/rs.3.rs-1902254/v1. 48: Jiang X, Xu Y, Sun J, Wang L, Guo X, Chen Y. The phenotypic characteristic observed by cardiac magnetic resonance in a PLN-R14del family. Sci Rep. 2020 Oct 5;10(1):16478. doi: 10.1038/s41598-020-73359-8. PMID: 33020536; PMCID:PMC7536202. 49: Menzel J, Kownatzki-Danger D, Tokar S, Ballone A, Unthan-Fechner K, Kilisch M, Lenz C, Urlaub H, Mori M, Ottmann C, Shattock MJ, Lehnart SE, Schwappach B. 14-3-3 binding creates a memory of kinase action by stabilizing the modified state of phospholamban. Sci Signal. 2020 Sep 1;13(647):eaaz1436. doi: 10.1126/ scisignal.aaz1436. PMID: 32873725. 50: Eijgenraam TR, Boukens BJ, Boogerd CJ, Schouten EM, van de Kolk CWA, Stege NM, Te Rijdt WP, Hoorntje ET, van der Zwaag PA, van Rooij E, van Tintelen JP, van den Berg MP, van der Meer P, van der Velden J, Silljé HHW, de Boer RA. Author Correction: The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unresponsive to standard heart failure therapy. Sci Rep. 2020 Oct 2;10(1):16710. doi: 10.1038/s41598-020-70780-x. Erratum for: Sci Rep. 2020 Jun 17;10(1):9819. PMID: 33009422; PMCID: PMC7532180. 51: Bleijendaal H, Ramos LA, Lopes RR, Verstraelen TE, Baalman SWE, Oudkerk Pool MD, Tjong FVY, Melgarejo-Meseguer FM, Gimeno-Blanes FJ, Gimeno-Blanes JR, Amin AS, Winter MM, Marquering HA, Kok WEM, Zwinderman AH, Wilde AAM, Pinto YM. Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram? Heart Rhythm. 2021 Jan;18(1):79-87. doi:10.1016/j.hrthm.2020.08.021. Epub 2020 Sep 8. PMID: 32911053. 52: Eijgenraam TR, Boukens BJ, Boogerd CJ, Schouten EM, van de Kolk CWA, Stege NM, Te Rijdt WP, Hoorntje ET, van der Zwaag PA, van Rooij E, van Tintelen JP, van den Berg MP, van der Meer P, van der Velden J, Silljé HHW, de Boer RA. The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy. Sci Rep. 2020 Jun 17;10(1):9819. doi: 10.1038/s41598-020-66656-9. Erratum in: Sci Rep. 2020 Oct 2;10(1):16710. PMID: 32555305; PMCID: PMC7300032.

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