ArticleCirculation2025
Inositol 1,4,5-Trisphosphate Receptor 1 Gain-of-Function Increases the Risk for Cardiac Arrhythmias in Mice and Humans.
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Article in Circulation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3citing papers in PubMed
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Who cites it
3 citing papers in PubMed.
- Structural and Functional Regulation of RyR2 in Cardiac Calcium Handling and Arrhythmogenesis.Biomedicines · 2026Review
- Early and mid-embryonic upregulation of chloride, calcium, and sodium transporter genes mark functional maturation of the chorioallantoic membrane in broiler embryos.Frontiers in physiology · 2025Article
- Calcium arrhythmogenicity of Purkinje fibers: importance of the animal model.Frontiers in physiology · 2025Review
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Authors and funding
30 authors.
Bo Sun *Department of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0001-7830-132X
Mingke Ni *Department of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0002-1100-8265
Yanhui Li *Department of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0002-5543-8363
Zhenpeng SongDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0003-3084-1356
Hui WangDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0009-0001-8093-4350
Hai-Lei ZhuDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).
Jinhong WeiDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0002-5251-9192
Darrell BelkeDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).
Shitian CaiDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).
Wenting GuoDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).
Jinjing YaoDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0002-4602-7159
Shanshan TianDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).
John Paul EstilloreDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).
Ruiwu WangDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0003-1564-9219
Mads Toft SøndergaardDepartment of Chemistry and Bioscience (M.T.S., M.B., P.D.R.), Aalborg University, Denmark.ORCID 0000-0001-6779-5109
Malene BrohusDepartment of Chemistry and Bioscience (M.T.S., M.B., P.D.R.), Aalborg University, Denmark.ORCID 0000-0001-9247-8551
Palle Duun RohdeDepartment of Chemistry and Bioscience (M.T.S., M.B., P.D.R.), Aalborg University, Denmark.ORCID 0000-0003-4347-8656
Yongxin MuDepartment of Medicine, University of California at San Diego, La Jolla (Y.M., J.C.).
Alexander VallmitjanaDepartment of Automatic Control, Universitat Politècnica de Catalunya, Barcelona, Spain (A.V., R.B.).ORCID 0000-0002-7149-9385
Raul BenitezDepartment of Automatic Control, Universitat Politècnica de Catalunya, Barcelona, Spain (A.V., R.B.).ORCID 0000-0002-8782-9406
Leif Hove-MadsenBiomedical Research Institute Barcelona (IIBB)-Spanish National Research Council (CSIC) and Sant Pau Biomedical Research Institute (IIB Sant Pau), Hospital de Sant Pau, Barcelona, Spain (L.H.-M.).ORCID 0000-0001-5493-3998
Michael Toft OvergaardORCID 0000-0002-1423-2481
Glenn I FishmanLeon H. Charney Division of Cardiology, New York University Langone Health, New York, NY (G.I.F.).ORCID 0000-0002-2366-8527
Ju ChenDepartment of Medicine, University of California at San Diego, La Jolla (Y.M., J.C.).ORCID 0000-0001-7674-4776
Shubhayan SanataniDivision of Cardiology, Department of Pediatrics, University of British Columbia, Vancouver, Canada (S.S.).ORCID 0000-0001-9296-7400
Arthur A M WildeDepartment of Clinical and Experimental Cardiology, Heart Center, Amsterdam University Medical Centre, Academic Medical Center Location, The Netherlands (A.A.M.W.).ORCID 0000-0002-0528-0852
Michael FillDepartment of Physiology and Biophysics, Rush University Medical Center, Chicago, IL (M.F., J.R.-F., S.R.W.C.).ORCID 0000-0002-6094-8296
Josefina Ramos-FrancoDepartment of Physiology and Biophysics, Rush University Medical Center, Chicago, IL (M.F., J.R.-F., S.R.W.C.).ORCID 0000-0001-5404-9481
Mette NyegaardDepartment of Health Science and Technology (M. Nyegaard), Aalborg University, Denmark.ORCID 0000-0003-4973-8543
S R Wayne ChenDepartment of Physiology and Pharmacology, Libin Cardiovascular Institute, University of Calgary, Canada (B.S., M. Ni, Y.L., Z.S., H.W., H.-L.Z., J.W., D.B., S.C., W.G., J.Y., S.T., J.P.E., R.W., S.R.W.C.).ORCID 0000-0001-5808-0304
Funding
Limiting Pathological Calcium Induced Calcium Release in HeartR01HL057832 · NHLBI · RUSH UNIVERSITY MEDICAL CENTER · PI FILL, MICHAEL, GILLESPIE, DIRK · 1997 to 2024
$9.0MPurkinje Cells and Arrhythmia MechanismsR01HL105983 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI FISHMAN, GLENN I · 2011 to 2019
$5.2MControl of IP3R-Mediated Calcium ReleaseR01GM111397 · NIGMS · RUSH UNIVERSITY MEDICAL CENTER · PI CHEN, SUI RONG WAYNE, FILL, MICHAEL · 2015 to 2018
$1.6MNHLBI NIH HHS R01 HL057832NHLBI NIH HHS R01 HL105983NIGMS NIH HHS R01 GM111397
Abstract
backgroundCa
methodsThere are a large number of rare ITPR1 missense variants reported in open data repositories. Based on their locations in the ITPR1 channel structure, we selected and characterized 33 human ITPR1 missense variants from open databases and identified 21 human ITPR1 GOF variants. We generated a mouse model carrying a human ITPR1 GOF variant, ITPR1-W1457G (W1447G in mice).
resultsWe showed that the ITPR1-W1447G
conclusionsOur studies in mice and humans reveal that enhanced function of
Indexed as
Arrhythmias, CardiacGain of Function MutationInositol 1,4,5-Trisphosphate ReceptorsAnimalsCalciumCalcium SignalingDisease Models, AnimalFemaleGenetic Predisposition to DiseaseHumansMaleMiceMutation, MissensePurkinje CellsCalciumInositol 1,4,5-Trisphosphate ReceptorsITPR1 protein, humanItpr1 protein, mousecardiac ryanodine receptorinositol 1,4,5-trisphosphate receptorPurkinje cellssarcoplasmic reticulumspontaneous Ca2+ releasetriggered activityventricular arrhythmias
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
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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 Socratic graph.