Evidence map›Paper›PMID 32387251›Full record

ArticleInternational journal of cardiology2020

Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve.

Dan Ye, Wei Zhou, David J Tester, Michael J Ackerman

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in International journal of cardiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 40% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Dan YeDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN 55905, USA.
Wei ZhouDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN 55905, USA.
David J TesterDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN 55905, USA.
Michael J AckermanDepartment of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA; Department of Cardiovascular Medicine/Division of Heart Rhythm Services, 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 · USMayo Clinic in Arizona · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCaveolin-3 (Cav-3) is an essential scaffolding protein for caveolae formation in cardiomyocytes and targets multiple long QT syndrome (LQTS)-associated ion channels. Mutations in CAV3 have caused an LQT3-like accentuation in late sodium current, I

methodsThe proband was a 39-year-old female with drug-induced, sudden cardiac arrest (SCA) with profound QT prolongation (QTc > 600 ms). Genetic testing revealed a rare CAV3-V37L variant of uncertain significance (VUS). Whole-cell patch clamp technique was used to measure I

resultsCAV3-V37L did not affect Nav1.5 late current. Instead, CAV3-V37L resulted in 1) I

conclusionsThese functional validation assays enabled the promotion of CAV3-V37L from VUS status to a likely pathogenic variant. Although Nav1.5 was spared, this monogenetic insult precipitated an oligo-proteomic impact with a concomitant gain-of-function of I

Indexed as

Action PotentialsAdultCaveolin 3FemaleHumansInduced Pluripotent Stem CellsLong QT SyndromeMyocytes, CardiacProteomicsCaveolin 3ArrhythmiaCaveolin 3Gene mutationIon channelLipids and lipoproteinsLong QT syndrome

Identifiers

PMID32387251
OpenAlexW3022526535

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.