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Reichart, D.* ; Lindberg, E.L.* ; Maatz, H.* ; Miranda, A.M.A.* ; Viveiros, A.* ; Shvetsov, N.* ; Gärtner, A.* ; Nadelmann, E.R.* ; Lee, M.* ; Kanemaru, K.* ; Ruiz-Orera, J.* ; Strohmenger, V.* ; DeLaughter, D.M.* ; Patone, G.* ; Zhang, H.* ; Woehler, A.* ; Lippert, C.* ; Kim, Y.* ; Adami, E.* ; Gorham, J.M.* ; Barnett, S.N.* ; Brown, K.* ; Buchan, R.J.* ; Chowdhury, R.A.* ; Constantinou, C.* ; Cranley, J.* ; Felkin, L.E.* ; Fox, H.* ; Ghauri, A.* ; Gummert, J.* ; Kanda, M.* ; Li, R.* ; Mach, L.* ; McDonough, B.* ; Samari, S.* ; Shahriaran, F. ; Yapp, C.* ; Stanasiuk, C.* ; Theotokis, P.I.* ; Theis, F.J. ; van den Bogaerdt, A.* ; Wakimoto, H.* ; Ware, J.S.* ; Worth, C.L.* ; Barton, P.J.R.* ; Lee, Y.A.* ; Teichmann, S.A.* ; Milting, H.* ; Noseda, M.* ; Oudit, G.Y.* ; Heinig, M. ; Seidman, J.G.* ; Hubner, N.* ; Seidman, C.E.*

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.

Science 377:eabo1984 (2022)
Postprint DOI PMC
Open Access Green
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 0036-8075
e-ISSN 1095-9203
Journal Science
Quellenangaben Volume: 377, Issue: 6606, Pages: , Article Number: eabo1984 Supplement: ,
Publisher American Association for the Advancement of Science (AAAS)
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Computational Biology (ICB)
Grants Canadian Institute of Health Research
Howard Hughes Medical Institute
NHLBI NIH HHS