Evidence map›Paper›PMID 33148509›Full record

ArticleJournal of molecular and cellular cardiology2021

Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes.

Maike Schuldt, Jamie R Johnston, Huan He, Roy Huurman, Jiayi Pei, Magdalena Harakalova, Corrado Poggesi, Michelle Michels, Diederik W D Kuster, Jose R Pinto and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of molecular and cellular cardiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.5field-weighted citation impact, top 15% 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

18 citing papers in PubMed, 25 citations in OpenAlex.

  1. Immature and mature myocardium in the pathophysiology of hypertrophic cardiomyopathy.Journal of molecular and cellular cardiology plus · 2026
    Review
  2. Thin filament interaction and CaJournal of molecular and cellular cardiology · 2026
    Article
  3. Article
  4. Review
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  15. Low expression of the K280NJournal of molecular and cellular cardiology plus · 2022
    Article
  16. Article
  17. Why make a strong muscle weaker?The Journal of general physiology · 2021
    Article
  18. Article
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

11 authors at 5 institutions in 3 countries.

Maike SchuldtAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands. Electronic address: m.schuldt@amsterdamumc.nl.
Jamie R JohnstonDepartment of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL, USA.
Huan HeDepartment of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL, USA; Institute of Molecular Biophysics, Florida State University, Tallahassee, FL, USA.
Roy HuurmanDepartment of Cardiology, Thorax Center, Erasmus Medical Center, Rotterdam, The Netherlands.
Jiayi PeiDepartment of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands; Regenerative Medicine Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands.
Magdalena HarakalovaDepartment of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands; Regenerative Medicine Utrecht, University Medical Center Utrecht, Utrecht, The Netherlands.
Corrado PoggesiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Michelle MichelsDepartment of Cardiology, Thorax Center, Erasmus Medical Center, Rotterdam, The Netherlands.
Diederik W D KusterAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
Jose R PintoDepartment of Biomedical Sciences, College of Medicine, Florida State University, Tallahassee, FL, USA.
Jolanda van der VeldenAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Physiology, Amsterdam Cardiovascular Sciences, Amsterdam, The Netherlands.
Amsterdam University Medical Centers · NLFlorida State University · USErasmus MC · NLUniversity Medical Center Utrecht · NLUniversity of Florence · IT

Funding

Modulators of Cardiomyopathic DiseasesR01HL128683 · NHLBI · FLORIDA STATE UNIVERSITY · PI PINTO, JOSE RENATO · 2016 to 2020
$1.8M
NHLBI NIH HHS R01 HL128683
6 · The paper itself

Abstract

backgroundThe clinical outcome of hypertrophic cardiomyopathy patients is not only determined by the disease-causing mutation but influenced by a variety of disease modifiers. Here, we defined the role of the mutation location and the mutant protein dose of the troponin T mutations I79N, R94C and R278C. METHODS AND

resultsWe determined myofilament function after troponin exchange in permeabilized single human cardiomyocytes as well as in cardiac patient samples harboring the R278C mutation. Notably, we found that a small dose of mutant protein is sufficient for the maximal effect on myofilament Ca

conclusionsUsing troponin exchange in single human cardiomyocytes, we show that TNNT2 mutation-induced changes in myofilament Ca

Indexed as

AdolescentAdultAgedCalciumCardiomyopathy, HypertrophicFemaleHumansMaleMiddle AgedMutant ProteinsMutationMyocytes, CardiacMyofibrilsRNA, MessengerTroponin TCalciumMutant ProteinsRNA, MessengerTroponin TCa(2+)-sensitivityCardiomyopathyHuman tissueHypertrophic cardiomyopathyMutant protein doseMutationMutation locationMyofilamentProtein levelTNNT2TroponinTroponin exchangeTroponin T

Identifiers

PMID33148509
PMCPMC10616699
OpenAlexW3093814964

What OpenQuestion holds

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LicenceCC BY
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.