Evidence mapPaperPMID 42443149Full record

ArticleSignal transduction and targeted therapy2026

RBM20 variants disrupt Ca

Sabine Rebs, Farbod Sedaghat-Hamedani, Elham Kayvanpour, Hanna Eberl, Branimir Berečić, Jan Dudek, Nicole Wagensohner, Aylin Seedorf, Julia K Unsöld, Daniela Hübscher and 18 more

Abstract read
In one paragraph

Article in Signal transduction and targeted therapy, 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

28 authors.

Sabine RebsInstitute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0002-9504-0261
Farbod Sedaghat-HamedaniInstitute for Cardiomyopathies Heidelberg, Department of Cardiology, Angiology and Pneumology, University Hospital Heidelberg, and DZHK (German Center for Cardiovascular Research), partner Site Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-3266-0527
Elham KayvanpourInstitute for Cardiomyopathies Heidelberg, Department of Cardiology, Angiology and Pneumology, University Hospital Heidelberg, and DZHK (German Center for Cardiovascular Research), partner Site Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-7285-2825
Hanna EberlInstitute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.ORCID http://orcid.org/0009-0000-1399-6001
Branimir BerečićInstitute of Pharmacology and Toxicology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Lower Saxony, Göttingen, Germany.ORCID http://orcid.org/0000-0003-3094-1568
Jan DudekComprehensive Heart Failure Center (CHFC), University Clinic Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0002-5672-7458
Nicole WagensohnerInstitute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.
Aylin SeedorfClinic for Cardiology and Pneumology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Göttingen, Göttingen, Germany.
Julia K UnsöldInstitute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.ORCID http://orcid.org/0009-0001-5090-5217
Daniela HübscherClinic for Cardiology and Pneumology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Göttingen, Göttingen, Germany.
Christoph ReichInstitute for Cardiomyopathies Heidelberg, Department of Cardiology, Angiology and Pneumology, University Hospital Heidelberg, and DZHK (German Center for Cardiovascular Research), partner Site Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-2683-1369
Teresa KleinDepartment of Biotechnology and Biophysics, Biocenter, University of Würzburg, Am Hubland, Würzburg, Germany.ORCID http://orcid.org/0000-0002-1155-0361
Sören DooseDepartment of Biotechnology and Biophysics, Biocenter, University of Würzburg, Am Hubland, Würzburg, Germany.ORCID http://orcid.org/0000-0002-6983-1182
Viacheslav O NikolaevInstitute for Experimental Cardiovascular Research, University Medical Center Hamburg-Eppendorf, Hamburg, and DZHK (German Center for Cardiovascular Research) partner site Hamburg, Hamburg, Germany.ORCID http://orcid.org/0000-0002-7529-5179
Tjark BuchwaldClinic for Cardiology and Pneumology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Göttingen, Göttingen, Germany.
Ahmed WagdiCluster of Excellence Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells (MBExC 2067), University of Göttingen, Göttingen, Germany.ORCID http://orcid.org/0000-0002-7952-9307
Michael KohlhaasComprehensive Heart Failure Center (CHFC), University Clinic Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0001-6132-6037
Nataliya DybkovaClinic for Cardiology and Pneumology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Göttingen, Göttingen, Germany.
Patricia Morais CostaInstitute for Experimental Cardiovascular Medicine, University Heart Centre, Medical Centre - University of Freiburg, and Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Kaomei GuanInstitute of Pharmacology and Toxicology, Technical University Dresden, Dresden, Germany.ORCID http://orcid.org/0000-0002-0753-3083
Gerd HasenfussClinic for Cardiology and Pneumology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Göttingen, Göttingen, Germany.ORCID http://orcid.org/0000-0002-5942-361X
Eva A Rog-ZielinskaInstitute for Experimental Cardiovascular Medicine, University Heart Centre, Medical Centre - University of Freiburg, and Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID http://orcid.org/0000-0002-3295-4728
Samuel SossallaClinic for Cardiology and Pneumology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Göttingen, Göttingen, Germany.ORCID http://orcid.org/0000-0001-8034-2673
Markus SauerDepartment of Biotechnology and Biophysics, Biocenter, University of Würzburg, Am Hubland, Würzburg, Germany.ORCID http://orcid.org/0000-0002-1692-3219
Christoph MaackComprehensive Heart Failure Center (CHFC), University Clinic Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0003-3694-4559
Malte TiburcyInstitute of Pharmacology and Toxicology, University Medical Center Göttingen and DZHK (German Center for Cardiovascular Research), partner Site Lower Saxony, Göttingen, Germany.ORCID http://orcid.org/0000-0002-6942-6275
Benjamin Meder *Institute for Cardiomyopathies Heidelberg, Department of Cardiology, Angiology and Pneumology, University Hospital Heidelberg, and DZHK (German Center for Cardiovascular Research), partner Site Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-0741-2633
Katrin Streckfuss-Bömeke *Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany. katrin.streckfuss-boemeke@uni-wuerzburg.de.ORCID http://orcid.org/0000-0001-5137-7228

Funding

Bundesministerium für Bildung und Forschung (Federal Ministry of Education and Research) CaRNAtion 031L0075CDeutsche Forschungsgemeinschaft (German Research Foundation) CRC1213, project B07Deutsche Forschungsgemeinschaft (German Research Foundation) CRC1525, project B7Deutsche Forschungsgemeinschaft (German Research Foundation) FOR6051, project 2Deutsche Forschungsgemeinschaft (German Research Foundation) FOR6051, project 3Deutsche Forschungsgemeinschaft (German Research Foundation) Ma 2528/8-1 #505805397Deutsche Forschungsgemeinschaft (German Research Foundation) RTG2824Deutsche Forschungsgemeinschaft (German Research Foundation) SFB #453989101Deutsche Forschungsgemeinschaft (German Research Foundation) STR 1411/7-1 project 471241922Deutsche Gesellschaft für Kardiologie-Herz und Kreislaufforschung. (German Cardiac Society) DGK07/2024Deutsche Herzstiftung (German Heart Foundation) AZ. F/38/18EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council) 835102Else Kröner-Fresenius-Stiftung (Else Kroner-Fresenius Foundation) 2017-A137Fritz Thyssen Stiftung (Fritz Thyssen Foundation) AZ. 10.19.2.026MN
6 · The paper itself

Abstract

Mutations in the splice-regulator RBM20 cause heart failure with reduced ejection fraction (HFrEF), typically manifesting as dilated cardiomyopathy (DCM). Mutations at position 634 in the RS-domain cause DCM with (R634L) or without (R634W) left ventricular non-compaction (LVNC). However, the mechanisms underlying phenotype variability and personalized therapy beyond HFrEF remain unclear. We generated induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM), 3D-cardiospheres and engineered myocardial tissues from patients with RBM20 mutations R634L (LVNC) or R634W (DCM). Using CRISPR/Cas9, we created isogenic rescue and mutation-insertion lines, identifying RBM20 mis-localization, splicing errors in TTN and RYR2, and sarcomere irregularities in both. DCM-CM showed increased resting Ca

Indexed as

CalciumCardiomyopathy, DilatedRNA-Binding ProteinsConnectinHumansInduced Pluripotent Stem CellsMutationMyocytes, CardiacRyanodine Receptor Calcium Release ChannelSarcoplasmic ReticulumCalciumConnectinribonucleic acid binding motif protein 20, humanRNA-Binding ProteinsRyanodine Receptor Calcium Release ChannelRyR2 protein, human

Identifiers

PMID42443149
PMCPMC13365226

What Socratic 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 Socratic graph.