Evidence map›Paper›PMID 37254794›Full record

ArticleCirculation research2023

Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1.

Wei Shi, Angel P Scialdone, James I Emerson, Liu Mei, Lauren K Wasson, Haley A Davies, Christine E Seidman, Jonathan G Seidman, Jeanette G Cook, Frank L Conlon

Open access · hybridAbstract read
In one paragraph

Article in Circulation research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.5field-weighted citation impact, top 11% of its field
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

12 citing papers in PubMed, 16 citations in OpenAlex.

  1. Review
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  4. Role of CHD chromatin remodelers in heart development.World journal of pediatrics : WJP · 2026
    Review
  5. Complex-specific HDAC1/2 regulation in the heart: insights from MiDAC disruption.American journal of physiology. Heart and circulatory physiology · 2026
    Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 1 country.

Wei ShiDepartment of Biology and Genetics, McAllister Heart Institute (W.S., A.P.S., J.I.E., H.A.D., F.L.C.), the University of North Carolina at Chapel Hill.ORCID 0000-0002-8177-2920
Angel P ScialdoneDepartment of Biology and Genetics, McAllister Heart Institute (W.S., A.P.S., J.I.E., H.A.D., F.L.C.), the University of North Carolina at Chapel Hill.
James I EmersonDepartment of Biology and Genetics, McAllister Heart Institute (W.S., A.P.S., J.I.E., H.A.D., F.L.C.), the University of North Carolina at Chapel Hill.
Liu MeiDepartment of Biochemistry & Biophysics (L.M., J.G.C.), the University of North Carolina at Chapel Hill.
Lauren K WassonDepartment of Genetics, Harvard Medical School, Boston, MA (L.K.W., C.E.S., J.G.S.).ORCID 0000-0002-5193-5215
Haley A DaviesDepartment of Biology and Genetics, McAllister Heart Institute (W.S., A.P.S., J.I.E., H.A.D., F.L.C.), the University of North Carolina at Chapel Hill.ORCID 0000-0002-8664-0951
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA (L.K.W., C.E.S., J.G.S.).ORCID 0000-0001-6380-1209
Jonathan G SeidmanDepartment of Biochemistry & Biophysics (L.M., J.G.C.), the University of North Carolina at Chapel Hill.ORCID 0000-0002-9082-3566
Frank L ConlonDepartment of Biology and Genetics, McAllister Heart Institute (W.S., A.P.S., J.I.E., H.A.D., F.L.C.), the University of North Carolina at Chapel Hill.ORCID 0000-0002-5027-0397
University of North Carolina at Chapel Hill · USBrigham and Women's Hospital · USHoward Hughes Medical Institute · US

Funding

Genomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7M
Cell Cycle Dynamics that Ensure Genome MaintenanceR35GM141833 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI COOK, JEANETTE GOWEN · 2021 to 2025
$2.8M
Function and regulation of chromatin remodeling complexes in cardiac development and diseaseR01HL165785 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CONLON, FRANK LEO, SHPARGEL, KARL BRYAN · 2022 to 2025
$2.3M
Mechanism and Function of Cardiac Transcriptional Repression NetworksR01HL156424 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CONLON, FRANK LEO · 2021 to 2024
$2.1M
NHLBI NIH HHS R01 HL156424NHLBI NIH HHS R01 HL165785NHLBI NIH HHS U01 HL098147NIGMS NIH HHS R35 GM141833
6 · The paper itself

Abstract

backgroundLeft ventricular noncompaction (LVNC) is a prevalent cardiomyopathy associated with excessive trabeculation and thin compact myocardium. Patients with LVNC are vulnerable to cardiac dysfunction and at high risk of sudden death. Although sporadic and inherited mutations in cardiac genes are implicated in LVNC, understanding of the mechanisms responsible for human LVNC is limited.

methodsWe screened the complete exome sequence database of the Pediatrics Cardiac Genomics Consortium and identified a cohort with a de novo CHD4 (chromodomain helicase DNA-binding protein 4) proband, CHD4

results

conclusionsOur study reveals how a single mutation in the chromatin remodeler CHD4, in mice or humans, modulates ventricular chamber maturation and that cardiac defects associated with the missense mutation CHD4

Indexed as

Isolated Noncompaction of the Ventricular MyocardiumMutation, MissenseADAMTS1 ProteinAnimalsCausalityChildChromatinHeart VentriclesHumansMi-2 Nucleosome Remodeling and Deacetylase ComplexMiceMutationMyocytes, CardiacADAMTS1 ProteinADAMTS1 protein, humanCHD4 protein, humanChromatinMi-2 Nucleosome Remodeling and Deacetylase Complexcardiomyopathiesheart defects, congenitalmutationmyocardiumtrabeculation

Identifiers

PMID37254794
PMCPMC10284140
OpenAlexW4378782276

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.