ArticleCirculation. Heart failure2023
Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice.
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Article in Circulation. Heart failure, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
2.9field-weighted citation impact, top 8% of its field
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Who cites it
14 citing papers in PubMed, 14 citations in OpenAlex.
- PRDM16 as a Multifaceted Pharmacological Target in Kidney Diseases: From Epigenetic Mechanisms to Therapeutic Strategies.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Rethinking Left Ventricular Noncompaction and Excessive Left Ventricular Trabeculation: Development, Genetics, and a Proposed Conceptual Framework.Journal of clinical medicine · 2026Review
- Cardiomyocyte-Specific bcl11b Knockout Causes Left Ventricular Noncompaction by Dysregulating pou3f2 and Titin.International journal of molecular sciences · 2026Article
- PRDM16 modulates aspects of cell cycle dynamics and maturation in human iPSC-derived cardiomyocytes.Stem cell reports · 2026Article
- Invasion of Epicardial-Derived Cells to the Trabeculae Mediated by NFPs-Fgf Signaling Regulates Ventricular Compaction.Circulation. Heart failure · 2026Article
- Mechanistic Insight into PVAT Browning as a Protective Factor in Thoracic Aortic Aneurysm.Current atherosclerosis reports · 2026Review
- Epigenetic regulation of cardiac physiology and pathophysiology: biological sex matters.The journal of cardiovascular aging · 2026Article
- Dilated cardiomyopathy in patients with PRDM16 haploinsufficiency.Journal of molecular medicine (Berlin, Germany) · 2025Article
- PRDM16, a new kid on the block in cardiovascular health and disease.Cardiovascular research · 2025Review
- PRDM16 acts as a homeostasis regulation factor to suppress the transition of AKI to CKD via upregulation of eukaryotic initiation factor 6.Cellular and molecular life sciences : CMLS · 2025Article
- Article
- The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies.Annual review of medicine · 2025Review
- PRDM16 determines specification of ventricular cardiomyocytes by suppressing alternative cell fates.Life science alliance · 2024Article
- A PRDM16-driven signal regulates body composition in testosterone-treated hypogonadal men.Frontiers in endocrinology · 2024Article
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 2 countries.
Bo Sun *Department of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-0388-1451
Omid M T Rouzbehani *Department of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.
Ryan J KramerDepartment of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.
Rajeshwary GhoshDepartment of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.
Robin M PerelliDepartment of Cell Biology (R.M.P., A.P.L.), Duke University School of Medicine, Durham, NC.
Sage AtkinsDepartment of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.
Amir Nima FatahianDepartment of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.ORCID 0000-0001-6531-7920
Kathryn DavisNora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.
Marta W SzulikNora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.ORCID 0000-0001-5412-8219
Michael A GoodmanDepartment of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.
Marissa A HathawayDepartment of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.
Ellenor ChiDepartment of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.
Tarah A WordDepartment of Molecular Physiology and Biophysics (T.A.W., X.H.T.W.), Baylor College of Medicine, Houston, TX.
Hari TunuguntlaDepartment of Medicine and Pediatrics, Section of Cardiology (H.T., S.W.D., X.H.T.W.), Baylor College of Medicine, Houston, TX.ORCID 0000-0001-9974-1332
Susan W DenfieldDepartment of Medicine and Pediatrics, Section of Cardiology (H.T., S.W.D., X.H.T.W.), Baylor College of Medicine, Houston, TX.
Xander H T WehrensDepartment of Molecular Physiology and Biophysics (T.A.W., X.H.T.W.), Baylor College of Medicine, Houston, TX.
Kevin J WhiteheadDivision of Cardiovascular Medicine, Department of Internal Medicine (K.J.W.), University of Utah School of Medicine, Salt Lake City.
Hala Y AbdelnasserDepartment of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, TX (H.Y.A., M.W.).
Junco S WarrenNora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.
Mingfu WuDepartment of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, TX (H.Y.A., M.W.).ORCID 0000-0003-0155-2328
Sarah FranklinNora Eccles Harrison Cardiovascular Research and Training Institute (K.D., M.W.S., J.S.W., S.F.), University of Utah, Salt Lake City.ORCID 0000-0002-2958-1879
Sihem BoudinaDepartment of Nutrition and Integrative Physiology, Program in Molecular Medicine (O.M.T.R., R.G., A.N.F., M.A.G., M.A.H., E.C., S.B.), University of Utah, Salt Lake City.ORCID 0000-0002-4711-1109
Andrew P LandstromDepartment of Pediatrics, Division of Cardiology (B.S., R.J.K., S.A., A.P.L.), Duke University School of Medicine, Durham, NC.ORCID 0000-0002-1878-9631
University of Utah · USDuke University · USBaylor College of Medicine · USNorwegian Womens Public Health Association · NOUniversity of Houston · USNational Space Biomedical Research Institute · US
Funding
WU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI James Alexander Fitzpatrick · 2013 to 2026
$27.1MCTSA UM1 Program at University of UtahUM1TR004409 · NCATS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI RACHEL HESS, Jennifer Juhl Majersik · 2023 to 2026
$21.9MRyanodine receptor regulation in post-operative atrial fibrillationR01HL089598 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI WEHRENS, XANDER H.T. · 2007 to 2022
$6.5MSignaling by beta 1 integrins regulates ventricular wall morphogenesis and compactionR01HL121700 · NHLBI · UNIVERSITY OF HOUSTON · PI Mingfu Wu, YANG Kevin XIANG · 2015 to 2026
$5.4MExploring the role of ATP1A3 mutations in sudden unexplained death in epilepsyR01HL160654 · NHLBI · DUKE UNIVERSITY · PI Andrew P. Landstrom · 2022 to 2026
$3.4MResearch Training Program in Cardiovascular SurgeryT32HL139430 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI Todd K Rosengart · 2018 to 2026
$2.9MThe Role of PRDM16 in Cardiac Development and CardiomyopathyR01HL149870 · NHLBI · UNIVERSITY OF UTAH · PI BOUDINA, SIHEM · 2020 to 2023
$2.8MDetermining 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
$2.8MJunctophilin-2 cleavage in ischemic heart diseaseR01HL153350 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI WEHRENS, XANDER H.T. · 2021 to 2024
$2.3MMechanisms underlying atrial fibrillation associated with chronic kidney diseaseR01HL147108 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI LI, NA, WEHRENS, XANDER H.T. · 2019 to 2022
$2.0MThe Role of Junctophilin Type 2 in Cardiac Node AutomaticityK08HL136839 · NHLBI · DUKE UNIVERSITY · PI LANDSTROM, ANDREW P. · 2017 to 2021
$769kMSRP in Metabolism, Diabetes, Digestive and Kidney DiseasesT35DK103596 · NIDDK · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI BEDDHU, SRINIVASAN, ROUND, JUNE LOUISE · 2015 to 2025
$758kNCATS NIH HHS UM1 TR004409NHLBI NIH HHS F32 HL144034NHLBI NIH HHS K08 HL136839NHLBI NIH HHS R01 HL089598NHLBI NIH HHS R01 HL121700NHLBI NIH HHS R01 HL147108NHLBI NIH HHS R01 HL149870NHLBI NIH HHS R01 HL153350NHLBI NIH HHS R01 HL160654NHLBI NIH HHS R01 HL166217NHLBI NIH HHS T32 HL139430NIDDK NIH HHS P30 DK020579NIDDK NIH HHS T35 DK103596
Abstract
backgroundPRDM16 plays a role in myocardial development through TGF-β (transforming growth factor-beta) signaling. Recent evidence suggests that loss of PRDM16 expression is associated with cardiomyopathy development in mice, although its role in human cardiomyopathy development is unclear. This study aims to determine the impact of PRDM16 loss-of-function variants on cardiomyopathy in humans.
methodsIndividuals with
resultsWe report 2 probands with loss-of-function
conclusionsNovel loss-of-function
Indexed as
CardiomyopathiesDNA-Binding ProteinsHeart FailureSignal TransductionTransforming Growth Factor betaAnimalsApoptosisCardiomyopathy, DilatedCell ProliferationCells, CulturedChild, PreschoolFemaleGene Knock-In TechniquesHumansInfant, NewbornIsolated Noncompaction of the Ventricular MyocardiumDNA-Binding ProteinsPRDM16 protein, humanPrdm16 protein, mouseTranscription FactorsTransforming Growth Factor betaallelesapoptosiscardiomyopathiesinduced pluripotent stem cellsmicetranscription factors
Identifiers
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Read underepoch 390
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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.