ArticleCommunications biology2023
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.
Open access · goldAbstract read
In one paragraph
Article in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
4.3field-weighted citation impact, top 5% of its field
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.
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.
Who cites it
26 citing papers in PubMed, 28 citations in OpenAlex.
- Targeting Interleukin-8-Mediated Cellular Crosstalk Reverses Hypertrophic Cardiomyopathy and Cardiac Fibrosis in Noonan Syndrome.Circulation · 2026Article
- Dynamic genetic and nongenetic RAS-pathway activation drives resistance to FLT3 and BCL2 inhibitor therapy.Blood · 2026Article
- Immature and mature myocardium in the pathophysiology of hypertrophic cardiomyopathy.Journal of molecular and cellular cardiology plus · 2026Review
- Berberine Attenuates Hypertrophic Phenotype in RAF1-Mutant Induced Pluripotent Stem Cell-Derived Cardiomyocytes through Suppression of ERK5-Cyclin D1 Signaling.Cardiovascular drugs and therapy · 2026Article
- Noonan Syndrome Type 5 Diagnosed by Next-Generation Sequencing: A Report of a Rare Pediatric Case.Cureus · 2026Article
- A large-scale single-nucleus resource reveals a cardiomyocyte-like fibroblast and stage-specific remodeling across cardiomyopathies.BMC medicine · 2026Article
- Huayu-qutan formula ameliorates hypertrophic cardiomyopathy by regulating MAPK and HIF‑1α-signaling pathways.Chinese medicine · 2026Article
- Restoring the 14-3-3/CRAF regulatory interaction in Noonan syndrome using molecular glues.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Long-term clinical benefit of mavacamten for hypertrophic cardiomyopathy in a patient withEuropean heart journal. Case reports · 2026Article
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.European journal of human genetics : EJHG · 2026Article
- Molecular Frameworks for ERK1/2 Inhibition: Lessons from Synthetic and SAR Explorations.ACS omega · 2025Review
- Reporter-based screening identifies RAS-RAF mutations as drivers of resistance to active-state RAS inhibitors in colorectal cancer.Science signaling · 2025Article
- Article
- Cardiovascular aspects of Noonan syndrome and related disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Trametinib alters contractility of paediatric Noonan syndrome-associated hypertrophic myocardial tissue slices.ESC heart failure · 2025Article
- Single-Cell Transcriptomic Reveals the Involvement of Cell-Cell Junctions in the Early Development of Hypertrophic Cardiomyopathy.Journal of cellular and molecular medicine · 2025Article
- RASopathies and Cardiac Complications: Insights into Mechanisms, Diagnosis, and Innovative Treatments.Current cardiology reviews · 2025Review
- Cardiac disease mechanobiology: advances using hiPSC-CMs.Frontiers in cardiovascular medicine · 2025Review
- Integrating Prime Editing and Cellular Reprogramming as Novel Strategies for Genetic Cardiac Disease Modeling and Treatment.Current cardiology reports · 2024Review
- Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.Children (Basel, Switzerland) · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors at 9 institutions in 4 countries.
Saeideh Nakhaei-Rad *Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Fereshteh Haghighi *Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Farhad Bazgir *Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0000-0002-0689-7926
Julia DahlmannGerman Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.
Alexandra Viktoria BusleyGerman Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.
Marcel BuchholzerInstitute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.ORCID 0000-0001-7485-6918
Karolin KleemannClinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.
Anne SchänzerInstitute of Neuropathology, Justus Liebig University Giessen, Giessen, Germany.
Andrea BorchardtInstitute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Andreas HahnDepartment of Child Neurology, Justus Liebig University Giessen, 35392, Giessen, Germany.
Sebastian KötterInstitute of Cardiovascular Physiology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Denny SchanzeInstitute of Human Genetics, University Hospital, Otto von Guericke-University, Magdeburg, Germany.ORCID 0000-0003-2748-9929
Ruchika AnandInstitute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Florian FunkInstitute of Pharmacology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Annette Vera KronenbitterInstitute of Pharmacology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Jürgen SchellerInstitute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Roland P PiekorzInstitute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Andreas S ReichertInstitute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Marianne VollethInstitute of Human Genetics, University Hospital, Otto von Guericke-University, Magdeburg, Germany.ORCID 0000-0003-2989-7459
Matthew J WolfDepartment of Medicine and Robert M. Berne Cardiovascular Research Center, University of Virginia, Charlottesville, VA, 22908, USA.
Ion Cristian CirsteaInstitute of Comparative Molecular Endocrinology, University of Ulm, Helmholtzstrasse 8/1, 89081, Ulm, Germany.ORCID 0000-0003-3204-1598
Bruce D GelbMindich Child Health and Development Institute and Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.ORCID 0000-0001-8527-5027
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy.
Joachim P SchmittInstitute of Pharmacology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Martina KrügerInstitute of Cardiovascular Physiology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Ingo KutschkaClinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany.
Lukas CyganekGerman Center for Cardiovascular Research (DZHK), partner site Göttingen, Göttingen, Germany.
Martin ZenkerInstitute of Human Genetics, University Hospital, Otto von Guericke-University, Magdeburg, Germany. martin.zenker@med.ovgu.de.ORCID 0000-0003-1618-9269
George KensahClinic for Cardiothoracic and Vascular Surgery, University Medical Center Göttingen, Göttingen, Germany. george.kensah@med.uni-goettingen.de.ORCID 0000-0003-0219-8279
Mohammad R AhmadianInstitute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. reza.ahmadian@uni-duesseldorf.de.ORCID 0000-0002-2034-8894
Düsseldorf University Hospital · DEUniversitätsmedizin Göttingen · DEOtto-von-Guericke-Universität Magdeburg · DEJustus-Liebig-Universität Gießen · DEBambino Gesù Children's Hospital · ITChild Health and Development Institute · USGerman Centre for Cardiovascular Research · DEUniversität Ulm · DEUniversity of Virginia · US
Funding
DYRK1a as a therapeutic target to treat myocardial infarctionR01HL158718 · NHLBI · UNIVERSITY OF VIRGINIA · PI WOLF, MATTHEW J · 2021 to 2024
$1.6MNHLBI NIH HHS R01 HL158718
Abstract
Noonan syndrome (NS), the most common among RASopathies, is caused by germline variants in genes encoding components of the RAS-MAPK pathway. Distinct variants, including the recurrent Ser257Leu substitution in RAF1, are associated with severe hypertrophic cardiomyopathy (HCM). Here, we investigated the elusive mechanistic link between NS-associated RAF1
Indexed as
Cardiomyopathy, HypertrophicNoonan SyndromeProto-Oncogene Proteins c-rafGerm-Line MutationHumansMyocytes, CardiacSignal TransductionProto-Oncogene Proteins c-rafRaf1 protein, human
Identifiers
What OpenQuestion holds
Textmetadata
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.