ArticleCirculation. Cardiovascular genetics2017
Novel Variant in the
Open access · diamondAbstract read
In one paragraph
Article in Circulation. Cardiovascular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
2.6field-weighted citation impact, top 10% 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
30 citing papers in PubMed, 50 citations in OpenAlex.
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- Genetics of sinoatrial node function and heart rate disorders.Disease models & mechanisms · 2023Review
- Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy.World journal of clinical cases · 2023Article
- Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.Science (New York, N.Y.) · 2022Article
- Obscurin regulates ankyrin macromolecular complex formation.Journal of molecular and cellular cardiology · 2022Article
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- Mechanisms underlying the role of ankyrin-B in cardiac and neurological health and disease.Frontiers in cardiovascular medicine · 2022Review
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- Sandstorm weather is a risk factor for mortality in ischemic heart disease patients in the Hexi Corridor, northwestern China.Environmental science and pollution research international · 2020Article
- Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.American journal of medical genetics. Part A · 2020Article
- Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.Biomolecules · 2020Review
- Ankyrins in human health and disease - an update of recent experimental findings.Archives of medical science : AMS · 2020Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 3 countries.
Leigh Anne SwayneFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Nathaniel P MurphyFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Sirisha AsuriFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Lena ChenFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Xiaoxue XuFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Sarah McIntoshFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Chao WangFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Peter J LancioneFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Jason D RobertsFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Charles KerrFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Shubhayan SanataniFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Elizabeth SherwinFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Crystal F KlineFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Mingjie ZhangFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Peter J MohlerFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.).
Laura T ArbourFrom the Division of Medical Sciences, University of Victoria, BC, Canada (L.A.S., L.C., X.X., L.T.A.); University of British Columbia Island Medical Program, Victoria, BC, Canada (L.A.S., L.T.A.); Department of Medical Genetics (S.A., S.M., L.T.A.), Division of Cardiology (C.K.), and Division of Cardiology, Department of Pediatrics, BC Children's Hospital (S.S., E.S.), University of British Columbia, Vancouver, BC, Canada; Division of Cardiovascular Medicine, Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute (N.P.M., P.J.L., C.F.K., P.J.M.) and Department of Physiology and Cell Biology (N.P.M., P.J.L., C.F.K., P.J.M.), The Ohio State University Wexner Medical Center, Columbus, OH; Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, China (C.W., M.Z.); and Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (J.D.R.). larbour@uvic.ca.
University of Hong Kong · HKUniversity of Victoria · CAUniversity of British Columbia · CAHong Kong University of Science and Technology · HK
Funding
Defining novel mechanisms for human arrhythmiaR35HL135754 · NHLBI · OHIO STATE UNIVERSITY · PI MOHLER, PETER J. · 2017 to 2023
$6.0MRole of spectrin/ankyrin-G complex in myocyte signaling and cardiac excitabilityR01HL083422 · NHLBI · VANDERBILT UNIVERSITY · PI MOHLER, PETER J. · 2006 to 2016
$3.8MRole of ankyrin-B in human arrhythmiaR01HL084583 · NHLBI · UNIVERSITY OF IOWA · PI MOHLER, PETER J. · 2006 to 2015
$3.4MDefining novel mechanisms for regulation of atrial INa and arrhythmiasR01HL134824 · NHLBI · OHIO STATE UNIVERSITY · PI HUND, THOMAS JEFFREY, MOHLER, PETER J. · 2017 to 2020
$3.0MEHD proteins in cardiac membrane protein targeting and remodelingR01HL114383 · NHLBI · OHIO STATE UNIVERSITY · PI BOYDEN, PENELOPE ALTMAN, MOHLER, PETER J. · 2013 to 2016
$2.1MNHLBI NIH HHS R01 HL083422NHLBI NIH HHS R01 HL084583NHLBI NIH HHS R01 HL114383NHLBI NIH HHS R01 HL134824NHLBI NIH HHS R35 HL135754
Abstract
backgroundLong QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT syndrome is ≈15× more common in First Nations of Northern British Columbia largely because of a known mutation in METHODS AND
resultsLong QT syndrome panel testing was carried out in the index case of each family, and clinical information was collected. Cascade genotyping was performed. Biochemical and myocyte-based assays were performed to evaluate the identified gene variant for loss-of-function activity. Index cases in these 2 families harbored a novel
conclusionsWe identify the first disease-causing
Indexed as
Genetic VariationAdolescentAdultAgedAnimalsAnkyrinsArrhythmias, CardiacBritish ColumbiaCell LineChildChild, PreschoolElectrocardiographyFemaleGenetic Predisposition to DiseaseHumansIndians, North AmericanANK2 protein, humanAnkyrinsSodium-Calcium Exchangerarrhythmiagenetic variationheart ratelong QT syndromeWolff–Parkinson–White syndrome
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