ArticleScience translational medicine2019
Hypertrophic cardiomyopathy mutations in
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Article in Science translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers.
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0cells of the map it votes in
137citing papers in PubMed
16.7field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
137 citing papers in PubMed, 207 citations in OpenAlex.
- Therapeutic upregulation of gene expression in inherited cardiomyopathies from current approaches to future directions.Nature cardiovascular research · 2026Review
- Mechanistic diversity within RLC-dependent myosin ATPase inhibitors differentiates EDG-7500, a diastolic-selective cardiac sarcomere modulator.JCI insight · 2026Article
- Biomechanical stress unmasks a fibroblast-dependent hypercontractile-disarray phenotype in MYBPC3 truncation HCM.APL bioengineering · 2026Article
- Myosin motor dynamics and cardiac function: Insights from in vivo small-angle X-ray scattering and pressure-volume analysis.The Journal of physiology · 2026Article
- Knowledge mapping of targeted therapy for hypertrophic cardiomyopathy: A bibliometric analysis of myosin inhibitor research.Medicine · 2026Article
- Thick filament molecular interfaces play a critical role in the pathogenesis of hypertrophic cardiomyopathy.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Mavacamten shows broad benefit in human and mouse models of MYBPC3-related hypertrophic cardiomyopathy.Nature cardiovascular research · 2026Article
- Assaying the myosin super-relaxed state across muscle types, cells and proteins for understanding muscle biology and use in drug discovery.Nature protocols · 2026Review
- Proteomic profiling identifies molecular subtypes and unveils mechanistic insights into clinical features of hypertrophic cardiomyopathy.Journal of translational medicine · 2026Article
- RNA-Based Therapies for Treating Monogenic Cardiomyopathies.The Canadian journal of cardiology · 2026Review
- ZeCardioAI: combining zebrafish, AI, and xAI for an in-depth cardiac phenotyping platform.Briefings in bioinformatics · 2026Article
- MYBPC3 (c.194 C > T) mutation-mediated RyR2 dysfunction contributes to pathogenic phenotypes of DCM revealed by HiPSC modeling.Cellular and molecular life sciences : CMLS · 2026Article
- Association of radiotherapy with atrial fibrillation-related gene expression in breast cancer patients: a study based on the TCGA-BRCA database.Discover oncology · 2026Article
- Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy.JACC. Case reports · 2026Article
- Destabilization of cardiac myosin acetylation and sequestration with type 2 diabetes mellitus.Cardiovascular diabetology · 2026Article
- Nonmuscle α-Actinin-4 Couples Sarcomere Function to Cardiac Remodeling.Circulation research · 2026Article
- Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins.Methodist DeBakey cardiovascular journal · 2026Review
- Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy.JCI insight · 2025Article
- Mavacamten in the Treatment of Obstructive Hypertrophic Cardiomyopathy: from Pathophysiology To Real World Data.Current cardiology reports · 2025Review
- Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025Review
77 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 10 institutions in 4 countries.
Christopher N ToepferDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA. christopher_toepfer@hms.harvard.edu cseidman@genetics.med.harvard.edu.ORCID 0000-0003-4671-2030
Hiroko WakimotoDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0003-0225-6424
Amanda C GarfinkelDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-3287-7849
Barbara McDonoughHoward Hughes Medical Institute, Chevy Chase, MD 20815, USA.ORCID 0000-0002-4257-8623
Dan LiaoDepartment of Biochemistry and Cardiovascular Research Institute (CVRI), Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.
Jianming JiangDepartment of Biochemistry and Cardiovascular Research Institute (CVRI), Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore.ORCID 0000-0003-3251-2716
Angela C TaiDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.
Joshua M GorhamDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-5969-4690
Ida G LundeDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0001-9502-6841
Mingyue LunDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Thomas L LynchDepartment of Molecular Pharmacology and Therapeutics, Health Sciences Division, Loyola University Chicago, Maywood, IL 60153, USA.ORCID 0000-0002-5214-3631
James W McNamaraHeart, Lung and Vascular Institute, University of Cincinnati, Cincinnati, OH 45219, USA.ORCID 0000-0003-3754-6405
Sakthivel SadayappanHeart, Lung and Vascular Institute, University of Cincinnati, Cincinnati, OH 45219, USA.
Charles S RedwoodDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, OX3 9DU, UK.ORCID 0000-0002-8673-7542
Hugh C WatkinsDivision of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, OX3 9DU, UK.ORCID 0000-0002-5287-9016
Jonathan G SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-9082-3566
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA 02115, USA. christopher_toepfer@hms.harvard.edu cseidman@genetics.med.harvard.edu.ORCID 0000-0001-6380-1209
Harvard University · USBrigham and Women's Hospital · USCentre for Human Genetics · GBNational University of Singapore · SGOhio Heart & Vascular Center · USBoston Children's Hospital · USHoward Hughes Medical Institute · USJohn Radcliffe Hospital · GBLoyola University Chicago · USOslo University Hospital · NO
Funding
Defining Pathways from Gene Mutation to Heart FailureR01HL080494 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHEN, CHRISTOPHER S, SEIDMAN, CHRISTINE E · 2005 to 2024
$9.4MMolecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9MFast myosin binding protein-C and cardiac contractility in heart failureR01HL105826 · NHLBI · UNIVERSITY OF CINCINNATI · PI SADAYAPPAN, SAKTHIVEL · 2011 to 2025
$4.5MMolecular mechanism of hypertrophic cardiomyopathy in populations of South Asian descendantsR01HL130356 · NHLBI · UNIVERSITY OF CINCINNATI · PI SADAYAPPAN, SAKTHIVEL · 2016 to 2019
$1.6MProteomic approaches to validate novel cardiac biomarkers for myocardial infarctiK02HL114749 · NHLBI · UNIVERSITY OF CINCINNATI · PI SADAYAPPAN, SAKTHIVEL · 2012 to 2016
$498kBritish Heart Foundation RG/12/16/29939British Heart Foundation RG/18/9/33887Howard Hughes Medical InstituteNHLBI NIH HHS K02 HL114749NHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL084553NHLBI NIH HHS R01 HL105826NHLBI NIH HHS R01 HL130356Wellcome Trust 206466/Z/17/Z
Abstract
The mechanisms by which truncating mutations in
Indexed as
Adenosine TriphosphateAnimalsCardiomyopathy, HypertrophicCarrier ProteinsDisease Models, AnimalHaploinsufficiencyHumansMiceMutationMyocardial ContractionMyocardiumMyocytes, CardiacMyosin Binding Protein CMyosinsortho-AminobenzoatesPhenotype3'-O-(N-methylanthraniloyl) ATPAdenosine TriphosphateCarrier ProteinsMyosin Binding Protein CMyosinsortho-Aminobenzoates
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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 OpenQuestion graph.