Evidence map›Paper›PMID 34988410›Full record

ArticleiScience2022

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.

Anna B Meier, Sarala Raj Murthi, Hilansi Rawat, Christopher N Toepfer, Gianluca Santamaria, Manuel Schmid, Elisa Mastantuono, Thomas Schwarzmayr, Riccardo Berutti, Julie Cleuziou and 8 more

Open access · goldAbstract read
In one paragraph

Article in iScience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.5field-weighted citation impact, top 17% 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

17 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Article
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  4. Article
  5. Cardiovascular aspects of Noonan syndrome and related disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025
    Article
  6. Recent advances in single-particle analysis with nanopore technology.Analytical sciences : the international journal of the Japan Society for Analytical Chemistry · 2025
    Review
  7. Article
  8. Article
  9. Article
  10. Biomarker Landscape in RASopathies.International journal of molecular sciences · 2024
    Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
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  17. Review
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

18 authors at 7 institutions in 3 countries.

Anna B MeierFirst Department of Medicine, Cardiology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
Sarala Raj MurthiDepartment of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, Technical University of Munich, School of Medicine and Health, Munich 80636, Germany.
Hilansi RawatFirst Department of Medicine, Cardiology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
Christopher N ToepferDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Gianluca SantamariaFirst Department of Medicine, Cardiology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
Manuel SchmidCardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 9DU, UK.
Elisa MastantuonoInstitute of Human Genetics, Helmholtz Zentrum Munich, German Research Center for Environmental Health, Neuherberg 85764, Germany.
Thomas SchwarzmayrInstitute of Human Genetics, Helmholtz Zentrum Munich, German Research Center for Environmental Health, Neuherberg 85764, Germany.
Riccardo BeruttiInstitute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
Julie CleuziouDepartment of Congenital and Pediatric Heart Surgery, German Heart Center Munich, Technical University of Munich, Munich 80636, Germany.
Peter EwertDepartment of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, Technical University of Munich, School of Medicine and Health, Munich 80636, Germany.
Agnes GörlachDepartment of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, Technical University of Munich, School of Medicine and Health, Munich 80636, Germany.
Karin KlingelInstitute for Pathology and Neuropathology, Department of Cardiopathology, University Hospital Tuebingen, Tuebingen 72076, Germany.
Karl-Ludwig LaugwitzFirst Department of Medicine, Cardiology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Jonathan G SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Alessandra MorettiFirst Department of Medicine, Cardiology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich 81675, Germany.
Cordula M WolfDepartment of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, Technical University of Munich, School of Medicine and Health, Munich 80636, Germany.
TUM Klinikum · DEGerman Centre for Cardiovascular Research · DEDeutsches Herzzentrum München · DEHarvard University · USHelmholtz Zentrum München · DECentre for Human Genetics · GBUniversity of Oxford · GB

Funding

Molecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9M
European Research Council 788381NHLBI NIH HHS R01 HL084553Wellcome Trust 206466/Z/17/Z
6 · The paper itself

Abstract

Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality in early life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dominant mutations in genes of the Ras-MAPK pathway. Although the cardiomyopathy associated with Noonan syndrome (NS-CM) shares certain cardiac features with the hypertrophic cardiomyopathy caused by mutations in sarcomeric proteins (HCM), such as pathological myocardial remodeling, ventricular dysfunction, and increased risk for malignant arrhythmias, the clinical course of NS-CM significantly differs from HCM. This suggests a distinct pathophysiology that remains to be elucidated. Here, through analysis of sarcomeric myosin conformational states, histopathology, and gene expression in left ventricular myocardial tissue from NS-CM, HCM, and normal hearts complemented with disease modeling in cardiomyocytes differentiated from patient-derived

Indexed as

Cell biologyStem cells researchTranscriptomics

Identifiers

PMID34988410
PMCPMC8704485
OpenAlexW4200457076

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.