Literature DB >> 27450564

Genomic correction of familial cardiomyopathy in human engineered cardiac tissues.

Francesca Stillitano1, Irene C Turnbull1, Ioannis Karakikes1,2, Mathieu Nonnenmacher1, Peter Backeris1, Jean-Sébastien Hulot1,3, Evangelia G Kranias4, Roger J Hajjar5, Kevin D Costa1.   

Abstract

In this study, we used three-dimensional human engineered cardiac tissue technology to directly show that phospholamban (PLN) R14del mutation impairs cardiac contractility and to demonstrate restoration of contractile properties with targeted genetic correction of this inheritable form of dilated cardiomyopathy. Published on behalf of the European Society of Cardiology. All rights reserved.
© The Author 2016. For permissions please email: journals.permissions@oup.com.

Entities:  

Keywords:  Dilated cardiomyopathy; Engineered heart tissue; Gene editing; Induced pluripotent stem cells; Phospholamban

Mesh：

Substances：

Year:  2016        PMID： 27450564      PMCID： PMC6425468          DOI： 10.1093/eurheartj/ehw307

Source DB:  PubMed          Journal:  Eur Heart J        ISSN： 0195-668X            Impact factor:   29.983


  6 in total

1.  A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

Authors:  Kobra Haghighi; Fotis Kolokathis; Anthony O Gramolini; Jason R Waggoner; Luke Pater; Roy A Lynch; Guo-Chang Fan; Dimitris Tsiapras; Rohan R Parekh; Gerald W Dorn; David H MacLennan; Dimitrios Th Kremastinos; Evangelia G Kranias
Journal:  Proc Natl Acad Sci U S A       Date:  2006-01-23       Impact factor: 11.205

2.  Advancing functional engineered cardiac tissues toward a preclinical model of human myocardium.

Authors:  Irene C Turnbull; Ioannis Karakikes; Gregory W Serrao; Peter Backeris; Jia-Jye Lee; Chaoqin Xie; Grant Senyei; Ronald E Gordon; Ronald A Li; Fadi G Akar; Roger J Hajjar; Jean-Sébastien Hulot; Kevin D Costa
Journal:  FASEB J       Date:  2013-10-30       Impact factor: 5.191

3.  Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

Authors:  Karin Y van Spaendonck-Zwarts; Ingrid A W van Rijsingen; Maarten P van den Berg; Ronald H Lekanne Deprez; Jan G Post; Anneke M van Mil; Folkert W Asselbergs; Imke Christiaans; Irene M van Langen; Arthur A M Wilde; Rudolf A de Boer; Jan D H Jongbloed; Yigal M Pinto; J Peter van Tintelen
Journal:  Eur J Heart Fail       Date:  2013-01-24       Impact factor: 15.534

4.  The regulation of SERCA-type pumps by phospholamban and sarcolipin.

Authors:  David H MacLennan; Michio Asahi; A Russell Tupling
Journal:  Ann N Y Acad Sci       Date:  2003-04       Impact factor: 5.691

5.  Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.

Authors:  Ioannis Karakikes; Francesca Stillitano; Mathieu Nonnenmacher; Christos Tzimas; Despina Sanoudou; Vittavat Termglinchan; Chi-Wing Kong; Stephanie Rushing; Jens Hansen; Delaine Ceholski; Fotis Kolokathis; Dimitrios Kremastinos; Alexandros Katoulis; Lihuan Ren; Ninette Cohen; Johannes M I H Gho; Dimitrios Tsiapras; Aryan Vink; Joseph C Wu; Folkert W Asselbergs; Ronald A Li; Jean-Sebastien Hulot; Evangelia G Kranias; Roger J Hajjar
Journal:  Nat Commun       Date:  2015-04-29       Impact factor: 14.919

Review 6.  Genome editing of human pluripotent stem cells to generate human cellular disease models.

Authors:  Kiran Musunuru
Journal:  Dis Model Mech       Date:  2013-06-10       Impact factor: 5.758
  6 in total
  28 in total

Review 1.  Physiologic, Pathologic, and Therapeutic Paracrine Modulation of Cardiac Excitation-Contraction Coupling.

Authors:  Joshua Mayourian; Delaine K Ceholski; David M Gonzalez; Timothy J Cashman; Susmita Sahoo; Roger J Hajjar; Kevin D Costa
Journal:  Circ Res       Date:  2018-01-05       Impact factor: 17.367

Review 2.  Genetics of paediatric cardiomyopathies.

Authors:  Stephanie M Ware
Journal:  Curr Opin Pediatr       Date:  2017-10       Impact factor: 2.856

3.  Differentiation of cardiomyocytes and generation of human engineered heart tissue.

Authors:  Kaja Breckwoldt; David Letuffe-Brenière; Ingra Mannhardt; Thomas Schulze; Bärbel Ulmer; Tessa Werner; Anika Benzin; Birgit Klampe; Marina C Reinsch; Sandra Laufer; Aya Shibamiya; Maksymilian Prondzynski; Giulia Mearini; Dennis Schade; Sigrid Fuchs; Christiane Neuber; Elisabeth Krämer; Umber Saleem; Mirja L Schulze; Marita L Rodriguez; Thomas Eschenhagen; Arne Hansen
Journal:  Nat Protoc       Date:  2017-05-11       Impact factor: 13.491

Review 4.  Precision medicine approach to genetic cardiomyopathy.

Authors:  K Filonenko; H A Katus; B Meder
Journal:  Herz       Date:  2017-08       Impact factor: 1.443

5.  Cardiomyopathies: In vitro genetic correction of familial dilated cardiomyopathy.

Authors:  Gregory B Lim
Journal:  Nat Rev Cardiol       Date:  2016-08-04       Impact factor: 32.419

Review 6.  Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

Authors:  Elizabeth M McNally; Luisa Mestroni
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

Review 7.  Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.

Authors:  Antoine Bondue; Eloisa Arbustini; Anna Bianco; Michele Ciccarelli; Dana Dawson; Matteo De Rosa; Nazha Hamdani; Denise Hilfiker-Kleiner; Benjamin Meder; Adelino F Leite-Moreira; Thomas Thum; Carlo G Tocchetti; Gilda Varricchi; Jolanda Van der Velden; Roddy Walsh; Stephane Heymans
Journal:  Cardiovasc Res       Date:  2018-08-01       Impact factor: 10.787

Review 8.  Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.

Authors:  Babken Asatryan; Argelia Medeiros-Domingo
Journal:  J Mol Med (Berl)       Date:  2018-08-20       Impact factor: 4.599

Review 9.  Will iPSC-cardiomyocytes revolutionize the discovery of drugs for heart disease?

Authors:  Arne An Bruyneel; Wesley L McKeithan; Dries Am Feyen; Mark Mercola
Journal:  Curr Opin Pharmacol       Date:  2018-08-03       Impact factor: 5.547

Review 10.  Modelling inherited cardiac disease using human induced pluripotent stem cell-derived cardiomyocytes: progress, pitfalls, and potential.

Authors:  Alain van Mil; Geerthe Margriet Balk; Klaus Neef; Jan Willem Buikema; Folkert W Asselbergs; Sean M Wu; Pieter A Doevendans; Joost P G Sluijter
Journal:  Cardiovasc Res       Date:  2018-12-01       Impact factor: 10.787
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