ArticleCirculation2018
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
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In one paragraph
Article in Circulation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 4 pooled it
5.2field-weighted citation impact, top 3% 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
63 citing papers in PubMed, 4 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025Pooled it
- Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Pooled it
- Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.Nature communications · 2020Pooled it
- International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.Circulation. Genomic and precision medicine · 2021Trial
- Arrhythmogenic right ventricular cardiomyopathy.European heart journal · 2026Review
- Homozygous NonsenseJournal of clinical medicine · 2026Article
- A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with aJournal of cardiovascular development and disease · 2026Article
- Molecular Pathogenesis of Arrhythmogenic Cardiomyopathy: Mechanisms and Therapeutic Perspectives.Biomolecules · 2025Review
- Hypertrophic Cardiomyopathy Through the Lens of Mitochondria.Biomedicines · 2025Review
- Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?European heart journal supplements : journal of the European Society of Cardiology · 2025Article
- Identification of Biomarkers of Arrhythmogenic Cardiomyopathy (ACM) by Plasma Proteomics.Medicina (Kaunas, Lithuania) · 2025Article
- Article
- A case of arrhythmic cardiomyopathy caused by rare multiple gene mutations.Frontiers in cardiovascular medicine · 2025Article
- Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (medRxiv : the preprint server for health sciences · 2024Article
- A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.International journal of molecular sciences · 2024Article
- Arrhythmogenic Left Ventricular Cardiomyopathy: From Diagnosis to Risk Management.Journal of clinical medicine · 2024Review
- Myocarditis and Chronic Inflammatory Cardiomyopathy, from Acute Inflammation to Chronic Inflammatory Damage: An Update on Pathophysiology and Diagnosis.Journal of clinical medicine · 2023Review
- The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.Internal medicine (Tokyo, Japan) · 2023Article
- Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.Genes · 2023Review
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 3 countries.
Francisco José Bermúdez-JiménezCardiology Department, Virgen de las Nieves University Hospital, Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F., L.T., J.J.-J.). bermudezfrancisco23y@gmail.com.
Víctor CarrielDepartment of Histology, Tissue Engineering Group, Faculty of Medicine, University of Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F, L.T., J.J.-J., V.C., M. Alaminos, A.C.).
Andreas BrodehlErich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Centre North Rhine-Westphalia, Ruhr University Bochum, Bad Oeynhausen, Germany (A.B., I.S., H.M.).
Miguel AlaminosDepartment of Histology, Tissue Engineering Group, Faculty of Medicine, University of Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F, L.T., J.J.-J., V.C., M. Alaminos, A.C.).
Antonio CamposDepartment of Histology, Tissue Engineering Group, Faculty of Medicine, University of Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F, L.T., J.J.-J., V.C., M. Alaminos, A.C.).
Ilona SchirmerErich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Centre North Rhine-Westphalia, Ruhr University Bochum, Bad Oeynhausen, Germany (A.B., I.S., H.M.).
Hendrik MiltingErich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Centre North Rhine-Westphalia, Ruhr University Bochum, Bad Oeynhausen, Germany (A.B., I.S., H.M.).
Beatriz Álvarez AbrilCardiology Department, Virgen de las Nieves University Hospital, Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F., L.T., J.J.-J.).
Miguel ÁlvarezCardiology Department, Virgen de las Nieves University Hospital, Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F., L.T., J.J.-J.).
Silvia López-FernándezCardiology Department, Virgen de las Nieves University Hospital, Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F., L.T., J.J.-J.).
Diego García-GiustinianiCardiology Department, Health in Code, A Coruña, Spain (D.G.-G., L.M.).
Lorenzo MonserratCardiology Department, Health in Code, A Coruña, Spain (D.G.-G., L.M.).
Luis TercedorCardiology Department, Virgen de las Nieves University Hospital, Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F., L.T., J.J.-J.).
Juan Jiménez-JáimezCardiology Department, Virgen de las Nieves University Hospital, Granada, Spain (F.J.B.-J., B.A.A., M. Álvarez, S.L.-F., L.T., J.J.-J.).
Universidad de Jaén · ESHeart and Diabetes Center North Rhine-Westphalia · DEUniversidade da Coruña · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDesmin (
methodsWe identified the novel
resultsOf the 66 family members screened for the
conclusionsThe
Indexed as
MutationAdolescentAdultAgedAged, 80 and overArrhythmias, CardiacCardiomyopathiesCell DifferentiationCells, CulturedChildDesminElectrocardiographyFemaleGenetic Predisposition to DiseaseHeart Defects, CongenitalHeart VentriclesDesminarrhythmogenic right ventricular dysplasiadesminmutationmyopathy, myofibrillar, desmin-relatedventricular fibrillation
Identifiers
What OpenQuestion holds
Textmetadata
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.