Evidence map›Paper›PMID 42774537›Full record

ArticleiScience2026

Single nucleus RNA sequencing identifies PLXNA4 upregulation in end-stage arrhythmogenic right ventricular cardiomyopathy.

Bridget Simonson, Mark Chaffin, Yasmine Guedira, Talita Z Choudhury, Ling Xiao, Richard Ruan, Kirsten Schneider, Jessica Morris, Vera Koledova, Kenneth C Bedi and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Bridget SimonsonPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Mark ChaffinPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Yasmine GuediraPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Talita Z ChoudhuryPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Ling XiaoCardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Richard RuanPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Kirsten SchneiderPrecision Cardiology Laboratory, Bayer US, LLC, Cambridge, MA 02142, USA.
Jessica MorrisPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Vera KoledovaPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Kenneth C BediPenn Cardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kenneth B MarguliesPenn Cardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Carla KlattenhoffPrecision Cardiology Laboratory, Bayer US, LLC, Cambridge, MA 02142, USA.
Patrick T EllinorPrecision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.

Funding

IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M
Integrative genomics of human heart failureR01HL105993 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI ASHLEY, EUAN A, CAPPOLA, THOMAS P. · 2011 to 2014
$8.9M
Mechanical Stress-Dependent Remodeling of the Cardiac Microtubule NetworkR01HL149891 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI Kenneth Ber Margulies, Benjamin Lears Prosser · 2020 to 2026
$4.2M
Using Electrocardiogram Genetics to Inform Arrhythmia RiskR01HL157635 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS, MIRSHAHI, TOORAJ · 2022 to 2025
$2.9M
From genetic basis to mechanisms for Heart FailureR01HL177209 · NHLBI · BROAD INSTITUTE, INC. · PI Patrick Thomas Ellinor, Ling Xiao · 2025 to 2026
$1.6M
NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL105993NHLBI NIH HHS R01 HL149891NHLBI NIH HHS R01 HL157635NHLBI NIH HHS R01 HL177209
6 · The paper itself

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic form of heart disease often caused by mutations in desmosomal proteins. We carried out single-nucleus RNA sequencing (snRNA-seq) on 11 non-failing and 8 ARVC patient right ventricular samples and transcriptionally profiled 139,347 nuclei. We identified over 4,400 differentially expressed protein-coding genes between non-failing and ARVC samples across cell types. When compared to dilated, hypertrophic, and ischemic cardiomyopathy, we found that end-stage ARVC is transcriptionally similar to other forms of end-stage heart failure. Despite broad transcriptional similarities, we identified seven cardiomyocyte genes and six fibroblast genes that were uniquely dysregulated in ARVC and validated

Indexed as

arrhythmogenic right ventricular cardiomyopathyheart failurePLXNA4single-nucleus RNA sequencing

Identifiers

PMID42774537
PMCPMC13594750

What OpenQuestion holds

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Registered trials

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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.