Evidence map›Paper›PMID 35931078›Full record

ArticleStem cell reports2022

Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential.

Marissa J Stutzman, C S John Kim, David J Tester, Samantha K Hamrick, Steven M Dotzler, John R Giudicessi, Marco C Miotto, Jeevan B Gc, Joachim Frank, Andrew R Marks and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.8field-weighted citation impact, top 14% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 1 country.

Marissa J StutzmanDepartment of Molecular Pharmacology and Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
C S John KimDepartment of Molecular Pharmacology and Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
David J TesterDepartment of Molecular Pharmacology and Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services; Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN 55905, USA.
Samantha K HamrickDepartment of Molecular Pharmacology and Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
Steven M DotzlerDepartment of Molecular Pharmacology and Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
John R GiudicessiDepartment of Molecular Pharmacology and Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services; Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN 55905, USA.
Marco C MiottoDepartment of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Jeevan B GcDepartment of Biochemistry and Molecular Biophysics, Columbia University, New York 10032, USA.
Joachim FrankDepartment of Biochemistry and Molecular Biophysics, Columbia University, New York 10032, USA.
Andrew R MarksDepartment of Physiology and Cellular Biophysics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Michael J AckermanDepartment of Molecular Pharmacology and Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services; Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, MN 55905, USA; Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: ackerman.michael@mayo.edu.
Mayo Clinic · USColumbia University · US

Funding

Exploring the Molecular Physiology of Atrial FibrillationR01HL140934 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, MARX, STEVEN O · 2018 to 2025
$6.0M
Training in Cardiovascular Translational ResearchT32HL120826 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, TABAS, IRA A · 2014 to 2023
$4.7M
Structure-function analysis for elucidating pathogenicity of cardiac ryanodine receptor genetic variantsR01HL145473 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, SHEPARD, KENNETH L · 2019 to 2022
$3.1M
Ryanodine Receptor Defects in Cardiomyopathy Caused by Lamin A/C Gene MutationsR01HL142903 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARKS, ANDREW ROBERT, WORMAN, HOWARD J · 2019 to 2022
$1.8M
NHLBI NIH HHS R01 HL140934NHLBI NIH HHS R01 HL142903NHLBI NIH HHS R01 HL145473NHLBI NIH HHS T32 HL120826
6 · The paper itself

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy causing ventricular tachycardia following adrenergic stimulation. Pathogenic variants in RYR2-encoded ryanodine receptor 2 (RYR2) cause CPVT1 and cluster into domains I-IV, with the most N-terminal domain involving residues 77-466. Patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) were generated for RYR2-F13L, -L14P, -R15P, and -R176Q variants. Isogenic control iPSCs were generated using CRISPR-Cas9/PiggyBac. Fluo-4 Ca

Indexed as

Induced Pluripotent Stem CellsRyanodine Receptor Calcium Release ChannelTachycardia, VentricularArrhythmias, CardiacCalciumHumansIsoproterenolMutationMyocytes, CardiacNADPolymorphic Catecholaminergic Ventricular TachycardiaCalciumIsoproterenolNADRyanodine Receptor Calcium Release ChannelRyR2 protein, humancalcium handlingcatecholaminergic polymorphic ventricular tachycardiainduced pluripotent stem cell-derived cardiomyocytesryanodine receptorsudden cardiac death

Identifiers

PMID35931078
PMCPMC9481874
OpenAlexW4289836025

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.