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| Item Type: | Article |
|---|---|
| Title: | Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies |
| Creators: |
Reichart, D.  ORCID: https://orcid.org/0000-0002-8559-5888, Lindberg, E.L. ORCID: https://orcid.org/0000-0002-2979-433X, Maatz, H. ORCID: https://orcid.org/0000-0002-9232-6272, Miranda, A.M.A., Viveiros, A. ORCID: https://orcid.org/0000-0001-9452-1082, Shvetsov, N. ORCID: https://orcid.org/0000-0001-9526-7637, Gärtner, A. ORCID: https://orcid.org/0000-0001-6899-7693, Nadelmann, E.R. ORCID: https://orcid.org/0000-0002-1374-9104, Lee, M. ORCID: https://orcid.org/0000-0002-0186-4439, Kanemaru, K. ORCID: https://orcid.org/0000-0003-0018-8966, Ruiz-Orera, J. ORCID: https://orcid.org/0000-0002-8317-0034, Strohmenger, V. ORCID: https://orcid.org/0000-0001-7972-6098, DeLaughter, D.M. ORCID: https://orcid.org/0000-0002-5352-2502, Patone, G. ORCID: https://orcid.org/0000-0002-7242-0341, Zhang, H., Woehler, A. ORCID: https://orcid.org/0000-0001-5157-9313, Lippert, C. ORCID: https://orcid.org/0000-0001-6363-2556, Kim, Y. ORCID: https://orcid.org/0000-0001-5978-5779, Adami, E. ORCID: https://orcid.org/0000-0002-1813-6681, Gorham, J.M. ORCID: https://orcid.org/0000-0001-5969-4690, Barnett, S.N., Brown, K. ORCID: https://orcid.org/0000-0002-2184-4654, Buchan, R.J. ORCID: https://orcid.org/0000-0003-2490-9289, Chowdhury, R.A. ORCID: https://orcid.org/0000-0003-4204-1014, Constantinou, C., Cranley, J., Felkin, L.E. ORCID: https://orcid.org/0000-0003-1402-8314, Fox, H. ORCID: https://orcid.org/0000-0002-2187-8715, Ghauri, A. ORCID: https://orcid.org/0000-0003-4665-3624, Gummert, J. ORCID: https://orcid.org/0000-0002-6956-9110, Kanda, M. ORCID: https://orcid.org/0000-0003-3468-3586, Li, R., Mach, L. ORCID: https://orcid.org/0000-0001-7824-4468, McDonough, B. ORCID: https://orcid.org/0000-0002-4257-8623, Samari, S., Shahriaran, F., Yapp, C. ORCID: https://orcid.org/0000-0003-1144-5710, Stanasiuk, C. ORCID: https://orcid.org/0000-0002-4801-7990, Theotokis, P.I. ORCID: https://orcid.org/0000-0001-8718-230X, Theis, F.J. ORCID: https://orcid.org/0000-0002-2419-1943, van den Bogaerdt, A., Wakimoto, H. ORCID: https://orcid.org/0000-0003-0225-6424, Ware, J.S. ORCID: https://orcid.org/0000-0002-6110-5880, Worth, C.L. ORCID: https://orcid.org/0000-0002-1796-9606, Barton, P.J.R. ORCID: https://orcid.org/0000-0002-1165-7767, Lee, Y.A. ORCID: https://orcid.org/0000-0002-1817-9163, Teichmann, S.A. ORCID: https://orcid.org/0000-0002-6294-6366, Milting, H. ORCID: https://orcid.org/0000-0001-9722-0007, Noseda, M. ORCID: https://orcid.org/0000-0002-9553-5029, Oudit, G.Y. ORCID: https://orcid.org/0000-0002-9154-9028, Heinig, M. ORCID: https://orcid.org/0000-0002-5612-1720, Seidman, J.G. ORCID: https://orcid.org/0000-0002-9082-3566, Hubner, N. ORCID: https://orcid.org/0000-0002-1218-6223 and Seidman, C.E. ORCID: https://orcid.org/0000-0001-6380-1209
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| 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. |
| Keywords: | Cardiomyopathies, Dilated Cardiomyopathy, Heart Failure, Heart Ventricles, Transcriptome |
| Source: | Science |
| ISSN: | 0036-8075 |
| Publisher: | American Association for the Advancement of Science |
| Volume: | 377 |
| Number: | 6606 |
| Page Range: | eabo1984 |
| Date: | 5 August 2022 |
| Additional Information: | Copyright © 2022 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. https://www.sciencemag.org/about/science-licenses-journal-article-reuse This is an article distributed under the terms of the Science Journals Default License. |
| Official Publication: | https://doi.org/10.1126/science.abo1984 |
| External Fulltext: | View full text on PubMed Central |
| PubMed: | View item in PubMed |
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