Evidence map›Paper›PMID 39963794›Full record

ArticleCirculation research2025

Robin M Perelli, Enya R Dewars, Heidi Cope, Alexander S Behura, Anna Q Ponek, Angelina M Sala, Zhushan Zhang, Padmapriya Muralidharan, Mary E Moya-Mendez, Amy Berkman and 17 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Taxing Hearts:Circulation research · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Robin M PerelliDepartment of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-5120-0470
Enya R DewarsDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-8504-8198
Heidi CopeDivision of Medical Genetics, Department of Pediatrics (H. Cope, J.E.E., V.S.), Duke University School of Medicine, Durham, NC.ORCID 0000-0003-0586-9277
Alexander S BehuraDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.
Anna Q PonekDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0009-0008-5366-881X
Angelina M SalaDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.
Zhushan ZhangDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0001-9366-7805
Padmapriya MuralidharanDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-8031-9833
Mary E Moya-MendezDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0003-0845-6750
Amy BerkmanDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0003-0650-3664
Gabrielle G MonacoDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.
Molly C SullivanDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0009-0001-9520-7033
Jordan E EzekianDivision of Medical Genetics, Department of Pediatrics (H. Cope, J.E.E., V.S.), Duke University School of Medicine, Durham, NC.
Qixin YangDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0003-4911-7894
Bo SunDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-0388-1451
Leonie M KurzlechnerDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-9305-0669
Tulsi AsokanDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.
Andrew M BreglioDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-5627-6167
M Jay CampbellDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-5210-9038
Zebulon Z SpectorDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.R.D., A.S.B., A.Q.P., A.M.S., Z.Z., P.M., M.E.M.-M., A.B., G.G.M., M.C.S., Q.Y., B.S., L.M.K., T.A., A.M.B., M.J.C., Z.Z.S., A.P.L.), Duke University School of Medicine, Durham, NC.
Catherine W RehderDepartment of Pathology, Duke University Health Systems Clinical Laboratories, Durham, NC (C.W.R.).ORCID 0000-0003-4924-9010
Undiagnosed Diseases Network
Paul C TangDepartment of Cardiac Surgery, University of Michigan, Ann Arbor (P.C.T.).ORCID 0000-0003-4211-8587
Cynthia A JamesDepartment of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD (C.A.J., H. Calkins).ORCID 0000-0001-8040-4600
Hugh CalkinsDepartment of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD (C.A.J., H. Calkins).ORCID 0000-0002-9262-9433
Vandana ShashiDivision of Medical Genetics, Department of Pediatrics (H. Cope, J.E.E., V.S.), Duke University School of Medicine, Durham, NC.
Andrew P LandstromDepartment of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-1878-9631

Funding

An integrated and diverse genomic medicine program for undiagnosed diseasesU01HG007672 · NHGRI · DUKE UNIVERSITY · PI SHASHI, VANDANA · 2014 to 2022
$13.4M
Preclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI MIRJANA MALETIC-SAVATIC · 2020 to 2026
$9.9M
An integrated and diverse genomic medicine program for undiagnosed diseasesU01NS134350 · NINDS · DUKE UNIVERSITY · PI VANDANA SHASHI · 2023 to 2026
$3.6M
Exploring the role of ATP1A3 mutations in sudden unexplained death in epilepsyR01HL160654 · NHLBI · DUKE UNIVERSITY · PI Andrew P. Landstrom · 2022 to 2026
$3.4M
Determining the genetic and social determinants of heart failure and mortality in patients with congenital heart disease (DEFINE)R01HL166217 · NHLBI · DUKE UNIVERSITY · PI Andrew P. Landstrom · 2023 to 2026
$2.8M
The Role of Junctophilin Type 2 in Cardiac Node AutomaticityK08HL136839 · NHLBI · DUKE UNIVERSITY · PI LANDSTROM, ANDREW P. · 2017 to 2021
$769k
Doris Duke Charitable Foundation 2020098NHGRI NIH HHS U01 HG007672NHLBI NIH HHS K08 HL136839NHLBI NIH HHS R01 HL160654NHLBI NIH HHS R01 HL166217NICHD NIH HHS P50 HD103555NINDS NIH HHS U01 NS134350
6 · The paper itself

Abstract

backgroundArrhythmogenic cardiomyopathy (ACM) is one of the leading causes of sudden cardiac death in children, young adults, and athletes and is characterized by the fibro-fatty replacement of the myocardium, predominantly of the right ventricle. Sixty percent of patients with ACM have a known genetic cause, but for the remainder, the pathogenesis is unknown. This lack of mechanistic understanding has slowed the development of disease-modifying therapies, and children with ACM have a high degree of morbidity and mortality.

methodsInduced pluripotent stem cells (iPSCs) from 3 family members were differentiated into cardiac myocytes (CMs). Calcium imaging was conducted by labeling calcium with CAL-520 and confocal imaging to capture calcium sparks after iPSC-CMs were electrically paced. A cardiac-specific, inducible knockout mouse (

resultsWe identified a kindred with multiple members affected by ACM cosegregating with biallelic variants in the gene

conclusionsWe conclude that

Indexed as

Arrhythmogenic Right Ventricular DysplasiaCalcium-Binding ProteinsMyocytes, CardiacTRPV Cation ChannelsAnimalsCalcium SignalingCells, CulturedFemaleHumansInduced Pluripotent Stem CellsMaleMiceMice, KnockoutPedigreeRyanodine Receptor Calcium Release ChannelCalcium-Binding ProteinsRyanodine Receptor Calcium Release ChannelTRPV4 protein, humanTrpv4 protein, mouseTRPV Cation Channelsarrhythmias, cardiaccalciumdeath, sudden, cardiaclipid dropletsmyocardium

Identifiers

PMID39963794
PMCPMC11949706

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.