ArticleScience (New York, N.Y.)2022
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Open access · greenAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 148 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
148citing papers in PubMed, 1 pooled it
36.3field-weighted citation impact, top 1% of its field
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Who cites it
148 citing papers in PubMed, 1 synthesis or guideline pooled it, 226 citations in OpenAlex.
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- Cardiac immunity and heart repair: Mechanism, challenge, and future direction.Chinese medical journal · 2026Review
- Shared mechanisms of organ fibrosis.JCI insight · 2026Review
- Single-Cell Analysis of Human Heart Failure With Preserved Ejection Fraction.Circulation research · 2026Article
- An integrated cell atlas of 2.4 million cardiac cells across 209 individuals in health and disease.Nature cardiovascular research · 2026Article
- Integrative Molecular Analyses of Inflammatory and Autoimmune Signals in Cardiac Sarcoidosis.Circulation · 2026Article
88 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
54 authors at 16 institutions in 7 countries.
Daniel Reichart *Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-8559-5888
Eric L Lindberg *Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0002-2979-433X
Henrike Maatz *Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0002-9232-6272
Antonio M A MirandaNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.
Anissa ViveirosDivision of Cardiology, Department of Medicine, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2R3, Canada.ORCID 0000-0001-9452-1082
Nikolay ShvetsovCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0001-9526-7637
Anna GärtnerErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany.ORCID 0000-0001-6899-7693
Emily R NadelmannDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-1374-9104
Michael LeeNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0002-0186-4439
Kazumasa KanemaruCellular Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.ORCID 0000-0003-0018-8966
Jorge Ruiz-OreraCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0002-8317-0034
Viktoria StrohmengerDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-7972-6098
Daniel M DeLaughterDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-5352-2502
Giannino PatoneCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0002-7242-0341
Hao ZhangDivision of Cardiology, Department of Medicine, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2R3, Canada.
Andrew WoehlerSystems Biology Imaging Platform, Berlin Institute for Medical Systems Biology (BIMSB), Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC), 10115 Berlin, Germany.ORCID 0000-0001-5157-9313
Christoph LippertDigital Health-Machine Learning group, Hasso Plattner Institute for Digital Engineering, University of Potsdam, 14482 Potsdam, Germany.ORCID 0000-0001-6363-2556
Yuri KimDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-5978-5779
Eleonora AdamiCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.
Joshua M GorhamDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-5969-4690
Sam N BarnettNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.
Kemar BrownDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-2184-4654
Rachel J BuchanNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0003-2490-9289
Rasheda A ChowdhuryNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0003-4204-1014
Chrystalla ConstantinouNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.
James CranleyCellular Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Leanne E FelkinNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0003-1402-8314
Henrik FoxHeart and Diabetes Center NRW, Clinic for Thoracic and Cardiovascular Surgery, University Hospital of the Ruhr-University, 32545 Bad Oeynhausen, Germany.ORCID 0000-0002-2187-8715
Ahla GhauriMax Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0003-4665-3624
Jan GummertHeart and Diabetes Center NRW, Clinic for Thoracic and Cardiovascular Surgery, University Hospital of the Ruhr-University, 32545 Bad Oeynhausen, Germany.ORCID 0000-0002-6956-9110
Masatoshi KandaCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0003-3468-3586
Ruoyan LiCellular Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Lukas MachNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0001-7824-4468
Barbara McDonoughCardiovascular Division, Brigham and Women's Hospital, Boston, MA 02115, USA.ORCID 0000-0002-4257-8623
Sara SamariNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.
Farnoush ShahriaranComputational Health Center, Helmholtz Zentrum München Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), 85764 Neuherberg, Germany.
Clarence YappLaboratory of Systems Pharmacology, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0003-1144-5710
Caroline StanasiukErich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany.ORCID 0000-0002-4801-7990
Pantazis I TheotokisNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0001-8718-230X
Fabian J TheisComputational Health Center, Helmholtz Zentrum München Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), 85764 Neuherberg, Germany.ORCID 0000-0002-2419-1943
Antoon van den BogaerdtETB-Bislife Foundation, 2300 AH Leiden, Netherlands.
Hiroko WakimotoDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0003-0225-6424
James S WareNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0002-6110-5880
Catherine L WorthCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0002-1796-9606
Paul J R BartonNational Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0002-1165-7767
Young-Ae LeeMax Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.
Sarah A TeichmannCellular Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.ORCID 0000-0002-6294-6366
Hendrik Milting *Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, 32545 Bad Oeynhausen, Germany.ORCID 0000-0001-9722-0007
Michela Noseda *National Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.ORCID 0000-0002-9553-5029
Gavin Y Oudit *Division of Cardiology, Department of Medicine, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta T6G 2R3, Canada.ORCID 0000-0002-9154-9028
Matthias Heinig *Computational Health Center, Helmholtz Zentrum München Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), 85764 Neuherberg, Germany.ORCID 0000-0002-5612-1720
Jonathan G Seidman *Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-9082-3566
Norbert Hubner *Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 13125 Berlin, Germany.ORCID 0000-0002-1218-6223
Christine E Seidman *Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-6380-1209
Max Delbrück Center · DEHarvard University · USGuy's and St Thomas' NHS Foundation Trust · GBHeart and Diabetes Center North Rhine-Westphalia · DEImperial College London · GBBrigham and Women's Hospital · USHelmholtz Zentrum München · DEUniversity of Alberta · CAWellcome Sanger Institute · GBBritish Heart Foundation · GBHasso Plattner Institute · DEHoward Hughes Medical Institute · USMRC London Institute of Medical Sciences · GBNetherlands Consortium for Healthy Ageing · NLSapporo Medical University · JPUniversity of Cambridge · GB
Funding
Systems Pharmacology of Therapeutic and Adverse Responses to ImmuneCheckpoint and Small Molecule DrugsU54CA225088 · NCI · HARVARD MEDICAL SCHOOL · PI SHARPE, ARLENE H. · 2018 to 2022
$10.8MDefining Pathways from Gene Mutation to Heart FailureR01HL080494 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHEN, CHRISTOPHER S, SEIDMAN, CHRISTINE E · 2005 to 2024
$9.4MInstitutional Career Development CoreKL2TR002542 · NCATS · HARVARD MEDICAL SCHOOL · PI BREDELLA, MIRIAM ANTOINETTE, RUTKOVE, SEWARD B. · 2018 to 2022
$8.7MMolecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9MCanadian Institute of Health ResearchHoward Hughes Medical InstituteMedical Research Council MC_UP_1102/20NCATS NIH HHS KL2 TR002542NCI NIH HHS U54 CA225088NHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL084553Wellcome Trust
Abstract
Pathogenic variants in genes that cause dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM) convey high risks for the development of heart failure through unknown mechanisms. Using single-nucleus RNA sequencing, we characterized the transcriptome of 880,000 nuclei from 18 control and 61 failing, nonischemic human hearts with pathogenic variants in DCM and ACM genes or idiopathic disease. We performed genotype-stratified analyses of the ventricular cell lineages and transcriptional states. The resultant DCM and ACM ventricular cell atlas demonstrated distinct right and left ventricular responses, highlighting genotype-associated pathways, intercellular interactions, and differential gene expression at single-cell resolution. Together, these data illuminate both shared and distinct cellular and molecular architectures of human heart failure and suggest candidate therapeutic targets.
Indexed as
Arrhythmogenic Right Ventricular DysplasiaCardiomyopathy, DilatedHeart FailureSingle-Cell AnalysisTranscriptomeAtlases as TopicCell NucleusHeart VentriclesHumansRNA-Seq
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.