Member Publications

Publications 2021

  1. Lee J, Termglinchan V, Diecke S, Itzhaki I, Lam CK, Garg P, Lau E, Greenhaw M, Seeger T, Wu H, Zhang JZ, Chen X, Gil IP, Ameen M, Sallam K, Rhee JW, Churko J, Chaudhary R, Yi SA, Nam KH, Chour T, Wang PJ, Snyder MP, Chang HY, Karakikes I, Wu JC. Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy. Nature 2019 Aug;572(7769):335-340. doi: 10.1038/s41586-019-1406-x. Epub 2019 Jul 17. PMID: 31316208; PMCID: PMC6779479.
  2. Alexandre J, Cautela J, Ederhy S, Damaj GL, Salem JE, Barlesi F, Farnault L, Charbonnier A, Mirabel M, Champiat S, Cohen-Solal A, Cohen A, Dolladille C, Thuny F. Cardiovascular Toxicity Related to Cancer Treatment: A Pragmatic Approach to the American and European Cardio-Oncology Guidelines. J Am Heart Assoc 2020; 9(18):e018403
  3. Ayad O, Al Sayed ZR, Sebille S, Magaud C, Chapotte-Baldacci CA, Jayle C, Faivre JF, Gaborit N, Chatelier A, Bois P. In vitro differentiation of W8B2 + human cardiac stem cells: gene expression of ionic channels and spontaneous calcium activity. Cell Mol Biol Lett 2020 Nov 5;25(1):50. doi: 10.1186/s11658-020-00242-9. PMID: 33292162; PMCID: PMC7646077.
  4. Blackwell DJ, Knollmann BC. SPEG Kinase: Hitting the Brake in Atrial Fibrillation. Circulation. 2020 Sep 22;142(12):1173-1175. doi: 10.1161/CIRCULATIONAHA.120.050226. Epub 2020 Sep 21. PMID: 32955933; PMCID: PMC7523464.
  5. Radbill AE, Lei LY, Paranjape SY, Blackwell DJ, Abraham RL, Chew DS, Raj SR, Knollmann BC. Assessment of dynamic cardiac repolarization and contractility in patients with hypertrophic cardiomyopathy. PLoS One. 2021 Feb 11;16(2):e0246768. doi: 10.1371/journal.pone.0246768. PMID: 33571287; PMCID: PMC7877626.
  6. Miki K, Deguchi K, Nakanishi-Koakutsu M, Lucena-Cacace A, Kondo S, Fujiwara Y, Hatani T, Sasaki M, Naka Y, Okubo C, Narita M, Takei I, Napier S, Sugo T, Imaichi S, Monjo T, Ando T, Tamura N, Imahashi K, Nishimoto T, and Yoshida Y. Activation of ERRγ enhances structural, metabolic, and electrophysiological maturation in human induced pluripotent stem cell-derived cardiomyocytes.
  7. Umeda M, Oshima S, Inagaki A, Hatani T, Okubo C, Narita M, Chonabayashi K, Takaori-Kondo A, Yoshida Y. Single cell gene expression analysis reveals mesodermal bifurcation demarcated by EOMES.
  8. Okubo C, Narita M, Inagaki A, Nishikawa M, Hotta A, Yamanaka S, Yoshida Y. Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation.
  9. Junghof J, Kogure Y, Tian Y, Verdugo-Sivianes EM, Narita M, Lucena-Cacace A, and Yoshida Y. CDH18 is a novel fetal epicardial biomarker regulating differentiation towards vascular smooth muscle cells.
  10. Hatani T, Okubo C, Fujita Y, Ito R, Kimura A, Narita M, Chonabayashi K, Toyoda T, Osafune K, Kimura T, Saito H, Yoshida Y. Purification of Human iPSC-derived Cells at Large Scale Using MicroRNA Switch and Magnetic-Activated Cell Sorting.
  11. Lucena-Cacace A, Yokota H, Nishikawa M, Oishi A, Takei I, Narita M, Asano K, Tanaka A, Miyachi Y, Yamanaka S, Yoshida Y. Dual downregulation of p38 MAPK-p53 regulatory axis facilitates somatic cell reprogramming through a TEAD3-dependant mechanism.
  12. Tian Y, Lucena-Cacace A, Yoshida Y. The oncogene WT1 and its therapeutic role in epicardial-driven cardiac remodeling: Engineering Human iPS cells-derived epicardium for cardiac regeneration.
  13. Krystian Kozek, Yuko Wada, Luca Sala, Isabelle Denjoy, Christian Egly, Matthew J O’Neill, Takeshi Aiba, Wataru Shimizu, Naomasa Makita, Taisuke Ishikawa, Lia Crotti, Carla Spazzolini, Maria-Christina Kotta, Federica Dagradi, Silvia Castelletti, Matteo Pedrazzini, Massimiliano Gnecchi, Antoine Leenhardt, Joe-Elie Salem, Seiko Ohno, Yi Zuo, Andrew M Glazer, Jonathan D Mosley, Dan M Roden, Bjorn C Knollmann, Jeffrey D Blume, Fabrice Extramiana, Peter J Schwartz, Minoru Horie, Brett M Kroncke. Estimating the Post-Test Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants. Circ Genom Precis Med. 2021 Jul 26. doi: 10.1161/CIRCGEN.120.003289. PMID: 34309407.
  14. Okubo C, Narita M, Inagaki A, Nishikawa M, Hotta A, Yamanaka S, Yoshida Y. Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation. Stem Cell Reports. 2021 Jul 8:S2213-6711(21)00322-2. doi: 10.1016/j.stemcr.2021.06.014. Online ahead of print.
  15. Miki K, Deguchi K, Nakanishi-Koakutsu M, Lucena-Cacace A, Kondo S, Fujiwara Y, Hatani T, Sasaki M, Naka Y, Okubo C, Narita M, Takei I, Napier S, Sugo T, Imaichi S, Monjo T, Ando T, Tamura N, Imahashi K, Nishimoto T, and Yoshida Y. ERRγ enhances cardiac maturation with T-tubule formation in human iPSC-derived cardiomyocytes. Nat Commun. 2021 Jun 21;12(1):3596. doi: 10.1038/s41467-021-23816-3.
  16. Miki K, Saito H, Yoshida Y. Isolation of Cardiomyocytes Derived from Human Pluripotent Stem Cells using miRNA switches. Methods Mol Biol. 2021;2320:35-51. doi: 10.1007/978-1-0716-1484-6_5. PMID: 34302646
  17. Takaki T, Yoshida Y. Application of FluoVolt membrane potential dye for induced pluripotent stem cell-derived cardiac single cells and monolayers differentiated via embryoid bodies. Methods Mol Biol. 2021;2320:101-110. doi: 10.1007/978-1-0716-1484-6_11. PMID: 34302652
  18. Koakutsu M, Takaki T, Miki K, Yoshida Y. Characterization of ventricular and atrial cardiomyocyte subtypes from human induced pluripotent stem cells. Methods Mol Biol. 2021;2320:135-149. doi: 10.1007/978-1-0716-1484-6_14. PMID: 34302655
  19. Fujiwara Y, Deguchi K, Miki K, Nishimoto T, Yoshida Y. A method for contraction force measurements of hiPSC-derived engineered cardiac tissues. Methods Mol Biol. 2021;2320:171-180. doi: 10.1007/978-1-0716-1484-6_17. PMID: 34302658
  20. Okubo C, Narita M, Yamamoto T, Yoshida Y. RNA-sequencing analysis of differentially expressed genes in human iPSC-derived cardiomyocytes. Methods Mol Biol. 2021;2320:193-217. doi: 10.1007/978-1-0716-1484-6_19. PMID: 34302660
  21. Lucena-Cacace A, Yoshida Y. Analysis of Transcriptional Profiling of Chamber-specific Human Cardiac Myocytes Derived from Pluripotent Stem Cells. Methods Mol Biol. 2021;2320:219-232. doi: 10.1007/978-1-0716-1484-6_20. PMID: 34302661
  22. Hatani T, Yoshida Y. Transplantation of Human Induced Pluripotent Stem Cell-derived Cardiomyocytes in a Mouse Myocardial Infarction Model. Methods Mol Biol. 2021;2320:285-293. doi: 10.1007/978-1-0716-1484-6_24. PMID: 34302665

Publications 2020

  1. Lee YK*, Sala L*, Mura M*, Rocchetti M, Pedrazzini M, Ran K, Mak T, Crotti L, Sham PK, Torre E, Zaza A, Schwartz PJ, Tse HF, Gnecchi M. MTMR4 SNPs modulate ion channel degradation and clinical severity in congenital Long QT Syndrome: insights in the mechanism of action of protective modifier genes.Cardiovasc. Res. 2020. Mar 16:cvaa019.
  2. Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM. Inherited cardiac arrhythmias. Nat Rev Dis Primers. 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. PMID: 32678103.
  3. Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR. Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation. 2020 May 20. doi: 10.1161/CIRCULATIONAHA.120.045956. Epub ahead of print. PMID: 32429735.
  4. High-throughput discovery of trafficking-deficient variants in the cardiac potassium channel KV11.1. Kozek KA, Glazer AM, Ng CA, Blackwell D, Egly CL, Vanags LR, Blair M, Mitchell D, Matreyek KA, Fowler DM, Knollmann BC, Vandenberg JI, Roden DM, Kroncke BM. Heart Rhythm. 2020 Jun 6:S1547-5271(20)30542-7. doi: 10.1016/j.hrthm.2020.05.041. Online ahead of print. PMID: 32522694
  5. Walsh R, Lahrouchi N, Tadros R, […], Crotti L, […], Kotta MC, […], Schwartz PJ,et al. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls [published online ahead of print, 2020 Sep 7]. Genet Med. 2020;10.1038/s41436-020-00946-5. doi:10.1038/s41436-020-00946-5

Publications 2019-2020

  1. Barber M, Nguyen LS, Wassermann J, Spano JP, Funck-Brentano C, Salem JE. Cardiac arrhythmia considerations of hormone cancer therapies. Cardiovasc Res 2019; 115(5):878-894. PMID 30698686.
  2. Chavali NV, Kryshtal DO, Parikh SS, Wang L, Glazer AM, Blackwell DJ, Kroncke BM, Shoemaker MB and Knollmann BC. The patient-independent human iPSC model – a new tool for rapid determination of genetic variant pathogenicity in long QT syndrome. Heart Rhythm 2019;16(11):1686-1695. PMID 31004778.
  3. Crotti L , Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE,  Beckmann BM, Behr ER, Bennett JS, Bezzina CR, Bhuiyan ZA, Celiker A, Cerrone M, Dagradi F, De Ferrari GM, Etheridge SP, Fatah M, Garcia-Pavia P, Al-Ghamdi S, Hamilton RM, Al-Hassnan ZN, Horie M, Jimenez-Jaimez J, Kanter RJ, Kaski JP, Kotta MC, Lahrouchi N, Makita N, Norrish G, Odland HH, Ohno S, Papagiannis J, Parati G, Sekarski N, Tveten K, Vatta M, Webster G, AM Wilde A,  Wojciak J, George AL, Ackerman MJ, Schwartz PJ. Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. Eur Heart J 2019;40(35):2964-2975. PMID 31170290.
  4. Gnecchi M, Sala L, Schwartz PJ. Cardiac repolarization and stem cells: An emerging path toward precision medicine. In: CARDIAC REPOLARIZATION. (El-Sherif N, Ed.) Springer Nature Switzerland AG, pp. 87-107, 2020.
  5. Goldfracht I, Efraim Y, Shinnawi R, Kovalev E, Huber I, Gepstein A, Arbel G, Shaheen N, Tiburcy M, Zimmerman WH, Machluf M, Gepstein L. Engineered heart tissue models from iPSC-derived cardiomyocytes and cardiac ECM for disease modeling and drug testing applications. Acta Biomater 2019;92:145-159. PMID 31075518.
  6. Lee YK, Sala L, Mura M, Rocchetti M, Pedrazzini M, Ran K, Mak TSH, Crotti L, Sham PC, Torre E, Zaza A, Schwartz PJ, Tse HF, Gnecchi M. MTMR4 SNPs modulate ion channel degradation and clinical severity in congenital Long QT Syndrome: insights in the mechanism of action of protective modifier genes. Cardiovasc Res 2020; Epub ahead of print. PMID: 32173736
  7. Mura M, Bastaroli F, Corli M, Ginevrino M, Calabrò F, Boni M, Crotti L, Valente EM, Schwartz PJ, Gnecchi M. Generation of the human induced pluripotent stem cell line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1. Stem Cell Res 2020;42:101658. PMID 31785541.
  8. Mura M, Lee YK, Pisano F, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Tse HF, Gnecchi M. Generation of the human induced pluripotent stem cell line PSMi004-A from a carrier of the KCNQ1-R594Q mutation. Stem Cell Res 2019;37:101431. PMID 30974404.
  9. Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Brink PA, Gnecchi M. Generation of the human induced pluripotent stem cell line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene. Stem Cell Res 2019; 36:101416. PMID 30878014.
  10. Sala L, Gnecchi M, Schwartz PJ. Long QT syndrome modelling with cardiomyocytes derived from human-induced pluripotent stem cells. Arrhythm Electrophysiol Rev 2019;8(2):105–110. PMID: 30878014.
  11. Salem JE, Yang T, Moslehi JJ, Waintraub X, Gandjbakhch E, Bachelot A, Hidden-Lucet F, Hulot JS, Knollmann BC, Lebrun-Vignes B, Funck-Brentano C, Glazer AM, Roden DM. Androgenic effects on ventricular repolarization: A translational study from pharmacovigilance databases to iPSC-cardiomyocytes. Circulation 2019;140(13):1070-1080. PMID 31378084.
  12. Schwartz PJ, Gnecchi M, Dagradi F, Castelletti S, Parati G, Spazzolini C, Sala L, Crotti L. From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome type 2. Eur Heart J 2019;40:1832–1836. PMID 30753398.
  13. Schwartz PJ, Sala L. Precision vs traditional medicine. Clinical questions trigger progress in basic science: a favor not always returned. Circ Res 2019;124: 459-461. PMID 30763224.
  14. Schwartz PJ, Woosley RL, Crotti L. When prescribing drugs, do medical doctors and healthcare professionals realize that their patient has the long QT syndrome? Eur Heart J 2019;40(37):3118-3120. PMID:31199477
  15. Shinnawi R, Shaheen N, Huber I, Shiti A, Arbel G, Gepstein A, Ballan, N, Setter N, Tijsen AG, Borggrefe M, Gepstein L. Modeling reentry in the short QT syndrome with human induced pluripotent stem cell-derived cardiac cell-sheets. J Am Coll Cardiol 2019;73:2310-2324. PMID 31072576.
  16. Zhang JZ, Termglinchan V, Shao NY, Itzhaki I, Liu C, Ma N, Tian L, Wang VY, Chang ACY, Guo H, Kitani T, Wu H, Lam CK, Kodo K, Sayed N, Blau HM, Wu JC. A human iPSC double-reporter system enables purification of cardiac lineage subpopulations with distinct function and drug response profiles. Cell Stem Cell 2019;24(5):802-811. PMID: 30880024.
  17. Belbachir N, Portero V, Al Sayed ZR, Gourraud JB, Dilasser F, Jesel L, Guo H, Wu H, Gaborit N, Guilluy C, Girardeau A, Bonnaud S, Simonet F, Karakachoff M, Pattier S, Scott C, Burel S, Marionneau C, Chariau C, Gaignerie A, David L, Genin E, Deleuze JF, Dina C, Sauzeau V, Loirand G, Baró I, Schott JJ, Probst V, Wu JC, Redon R, Charpentier F, Le Scouarnec S. RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome. Eur Heart J 2019; 40(37):3081-3094. PMID: 31114854
  18. Wu JC, Garg P, Yoshida Y, Yamanaka S, Gepstein L, Hulot JS, Knollmann BC, Schwartz PJ. Towards precision medicine with human iPSCs for cardiac chanellopathies. Circ Res 2019;125:653-58. PMID 31465267.
  19. Paik DT, Cho S, Tian L, Chang HY, Wu JC. Single-cell RNA sequencing in cardiovascular disease, development and medicine. Nat Rev Cardiol 2020; Epub ahead of print.
  20. Lee J, Termglinchan V, Diecke S, Itzhaki I, Lam CK, Garg P, Lau E, Greenhaw M, Seeger T, Wu H, Zhang JZ, Chen X, Gil IP, Ameen M, Sallam K, Rhee JW, Churko J, Chaudhary R, Yi SA, Nam KH, Chour T, Wang PJ, Snyder MP, Chang HY, Karakikes I, Wu JC. Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy. Nature 2019;572(7769):335-340. PMID: 31316208