ArticleCirculation. Genomic and precision medicine2025
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction.
Article in Circulation. Genomic and precision medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1citing papers in PubMed
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1 · What the graph read from it
What it found
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2 · The registry
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5 · Who and what money
Authors and funding
16 authors.
Maicon Landim-Vieira *Department of Biomedical Sciences, College of Medicine (M.L.-V., M.R.-G., R.C.C., J.H.L., S.P.C., J.R.P.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-6696-8888
Robin M Perelli *Florida State University, Tallahassee. Department of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-5120-0470
Michelle Rodriguez-GarciaDepartment of Biomedical Sciences, College of Medicine (M.L.-V., M.R.-G., R.C.C., J.H.L., S.P.C., J.R.P.), Duke University School of Medicine, Durham, NC.ORCID 0000-0003-2407-1455
Vivek P JaniDivision of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (V.P.J.).ORCID 0000-0002-3811-4973
Ronnie C ChastainDepartment of Biomedical Sciences, College of Medicine (M.L.-V., M.R.-G., R.C.C., J.H.L., S.P.C., J.R.P.), Duke University School of Medicine, Durham, NC.ORCID 0009-0007-3571-2808
Joshua H LamarDepartment of Biomedical Sciences, College of Medicine (M.L.-V., M.R.-G., R.C.C., J.H.L., S.P.C., J.R.P.), Duke University School of Medicine, Durham, NC.ORCID 0009-0007-3487-1014
Ellen MinesDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.M., M.P.C., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0009-0003-4403-5926
Gwimoon SeoProtein Expression Facility, Institute of Molecular Biophysics (G.S.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-9759-4284
Aurelia Araujo FernandesDepartment of Physiological Sciences, Federal University of Espirito Santo, Vitória, Brazil (A.A.F.).ORCID 0000-0001-9945-1909
Bjorn KnollmannDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN (B.K.).ORCID 0000-0003-4956-9735
Michael P CarboniDivision of Pediatric Cardiology, Department of Pediatrics (R.M.P., E.M., M.P.C., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-9875-7276
Stephen P ChelkoDepartment of Biomedical Sciences, College of Medicine (M.L.-V., M.R.-G., R.C.C., J.H.L., S.P.C., J.R.P.), Duke University School of Medicine, Durham, NC.
Vitold E GalkinDepartment of Physiological Sciences, Eastern Virginia Medical School, Norfolk (V.E.G.).ORCID 0000-0003-1138-7565
P Bryant ChaseDepartment of Biological Science (P.B.C.), Duke University School of Medicine, Durham, NC.ORCID 0000-0001-9701-561X
Jose Renato PintoDepartment of Biomedical Sciences, College of Medicine (M.L.-V., M.R.-G., R.C.C., J.H.L., S.P.C., J.R.P.), Duke University School of Medicine, Durham, NC.ORCID 0000-0001-9092-4976
Andrew P LandstromFlorida State University, Tallahassee. Department of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-1878-9631
Funding
Exploring the role of ATP1A3 mutations in sudden unexplained death in epilepsyR01HL160654 · NHLBI · DUKE UNIVERSITY · PI Andrew P. Landstrom · 2022 to 2026
$3.4M
Determining the genetic and social determinants of heart failure and mortality in patients with congenital heart disease (DEFINE)R01HL166217 · NHLBI · DUKE UNIVERSITY · PI Andrew P. Landstrom · 2023 to 2026
$2.8M
The mechanisms of cardiac thin filament regulation in health and disease.R01HL160966 · NHLBI · OLD DOMINION UNIVERSITY · PI CHASE, P. BRYANT, GALKIN, VITOLD · 2022 to 2025
backgroundDilated cardiomyopathy (DCM) is a heart muscle disease in which the left ventricle is enlarged, resulting in systolic dysfunction. Pathogenic variants in genes encoding proteins involved in cardiac contractility, cytoskeleton structure, and Ca
methodsProbands with the novel
resultsWe identified a multigenerational family carrying the
conclusionsOur clinical and genetics data, combined with the in silico modeling and functional assays, suggest that cTnC-E135A is associated with DCM and disrupts kinetics of Ca
Indexed as
Cardiomyopathy, DilatedCyclic AMP-Dependent Protein KinasesMyofibrilsTroponin CActin CytoskeletonAdultDiastoleFemaleHumansMaleMiddle AgedPedigreePhosphorylationCyclic AMP-Dependent Protein KinasesTroponin Ccardiomyopathy, dilatedheart failuremyocardiumsarcomeresTroponin C
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.
Cardiac Troponin C E135A Variant Impairs Myofilament Response to PKA Phosphorylation and Is Associated With Autosomal Dominant Dilated Cardiomyopathy With Diastolic Dysfunction. · full record | OpenQuestion