189 Phospholamban R14del Cardiomyopathy: a systematic summary of the pathophysiological mechanisms 7 SUPPLEMENTARY FILE Systematic review output per search term Search terms, in title and/or abstract: PLN R14del; Phospholamban R14del; p.Arg14del; PLN Arg14del; Phospholamban Arg14del; R14del. Databases used: pubmed.gov, bioRxiv, ResearchSquare. Total results: 82 Final literature search day: 28-12-2023 Excluded: one author corrections (nr. 50). Papers used for manuscript: 81 1: van der Voorn SM, van Drie E, Proost V, Dimitrova K, Netherlands Acm/Pln Registry, Ernst RF, James CA, Tichnell C, Murray B, Calkins H, Saguner AM, Duru F, Ellinor PT, Bezzina CR, Jurgens SJ, van Tintelen JP, van Veen TAB. Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies. Int J Mol Sci. 2023 Nov 3;24(21):15931. doi: 10.3390/ijms242115931. PMID: 37958923; PMCID: PMC10648441. 2: Stege NM, Eijgenraam TR, Oliveira Nunes Teixeira V, Feringa AM, Schouten EM, Kuster DWD, van der Velden J, Wolters AHG, Giepmans BNG, Makarewich CA, Bassel- Duby R, Olson EN, de Boer RA, Silljé HHW. DWORF Extends Life Span in a PLN-R14del Cardiomyopathy Mouse Model by Reducing Abnormal Sarcoplasmic Reticulum Clusters. Circ Res. 2023 Dec 8;133(12):1006-1021. doi: 10.1161/CIRCRESAHA.123.323304. Epub 2023 Nov 13. PMID: 37955153; PMCID:PMC10699510. 3: Balducci V, Scardigli F, Harakalova M, Peter van Tintelen J, Doevendans PA, Costa KD, Turnbull IC, P G Sluijter J, Stillitano F. Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative. Stem Cell Res. 2023 Sep 21;72:103208. doi: 10.1016/j.scr.2023.103208. Epub ahead of print. PMID:37748331. 4: Taha K, van de Leur RR, Vessies M, Mast TP, Cramer MJ, Cauwenberghs N, Verstraelen TE, de Brouwer R, Doevendans PA, Wilde A, Asselbergs FW, van den Berg MP, D'hooge J, Kuznetsova T, Teske AJ, van Es R. Deep neural network-based clustering of deformation curves reveals novel disease features in PLN pathogenic variant carriers. Int J Cardiovasc Imaging. 2023 Aug 11. doi: 10.1007/s10554-023-02924-9. Epub ahead of print. PMID:37566298. 5: de Boer RA. Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant? : Pro: Provide pre-emptive treatment to asymptomatic carriers. Neth Heart J. 2023 Aug;31(7-8):287-288. doi:10.1007/ s12471-023-01793-0. Epub 2023 Jul 26. PMID: 37493902; PMCID:PMC10400733. 6: Doevendans PA. Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant? : Con: Do no harm to asymptomatic carriers. Neth Heart J. 2023 Aug;31(7-8):289-290. doi: 10.1007/s12471-02301794-z. Epub 2023 Jul 25. PMID: 37491506; PMCID: PMC10400497. 7: van Lint FHM, Hassanzada F, Verstraelen TE, Wang W, Bosman LP, van der Zwaag PA, Oomen T, Calkins H, Murray B, Tichnell C, Beuren TMA, Asselbergs FW, Houweling A, van den Berg MP, Wilde AAM, James CA, van Tintelen JP. Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy. Neth Heart J. 2023 Aug;31(7-8):291-299. doi: 10.1007/s12471-023-01800-4. Epub 2023 Jul 20. PMID: 37474840; PMCID: PMC10400740. 8: Zanotti S, Ripolone M, Napoli L, Velardo D, Salani S, Ciscato P, Priori S, Kukavica D, Mazzanti A, Diamanti L, Vegezzi E, Moggio M, Corti S, Comi G, Sciacco M. Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in <i>Phospholamban</i> Gene. Cells. 2023 May 17;12(10):1405. doi: 10.3390/cells12101405. PMID: 37408239; PMCID: PMC10216566.
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