Evidence map›Paper›PMID 33213388›Full record

ArticleBMC medical genetics2020

Characterization of an N-terminal Na

Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel, Silke Kauferstein

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 45% 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, 3 citations in OpenAlex.

  1. Article
  2. Variant interpretation in molecular autopsy: a useful dilemma.International journal of legal medicine · 2022
    Article
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

8 authors at 3 institutions in 2 countries.

Stefanie Scheiper-WellingInstitute of Legal Medicine, Goethe University of Frankfurt, Kennedyallee 104, 60596, Frankfurt am Main, Germany.
Paolo ZuccoliniDepartment of Biology, Membrane Biophysics, Technische Universität Darmstadt, Schnittspahnstrasse 3, 64287, Darmstadt, Germany.
Oliver RauhDepartment of Biology, Membrane Biophysics, Technische Universität Darmstadt, Schnittspahnstrasse 3, 64287, Darmstadt, Germany.
Britt-Maria Beckmann1 Institute of Legal Medicine, Goethe University of Frankfurt, Kennedyallee104, 60596, Frankfurt am Main, Germany.
Christof GeisenGerman Red Cross Blood Center, Institute of Transfusion Medicine and Immunohaematology, University Hospital Frankfurt, Frankfurt, Germany.
Anna MoroniDepartment of Biosciences and CNR IBF-Mi, University of Milano, Via Celoria 26, 20133, Milan, Italy.
Gerhard ThielDepartment of Biology, Membrane Biophysics, Technische Universität Darmstadt, Schnittspahnstrasse 3, 64287, Darmstadt, Germany.
Silke KaufersteinInstitute of Legal Medicine, Goethe University of Frankfurt, Kennedyallee 104, 60596, Frankfurt am Main, Germany. kauferstein@em.uni-frankfurt.de.ORCID 0000-0003-0066-8679
Goethe University Frankfurt · DETechnische Universität Darmstadt · DEUniversity of Milan · IT

Funding

DLR 50 WB1838
6 · The paper itself

Abstract

backgroundAlterations in the SCN5A gene encoding the cardiac sodium channel Na

methodsMutant as well as wild type GFP tagged Na

resultsElectrophysiological measurements indicated, that the detected missense variant alters Nav1.5 channel functionality leading to a gain-of-function effect. Cells expressing S106G channels show an increase in Na

conclusionThe results support the assumption that the detected sequence aberration alters Na

Indexed as

Gain of Function MutationMutation, MissenseAction PotentialsAdultArrhythmias, CardiacGene ExpressionHeart ArrestHEK293 CellsHumansMaleMutagenesis, Site-DirectedNAV1.5 Voltage-Gated Sodium ChannelPlasmidsSurvivorsTransfectionNAV1.5 Voltage-Gated Sodium ChannelArrhythmia syndromesCardiac arrestFunctional characterizationSCN5ASudden death

Identifiers

PMID33213388
PMCPMC7678220
OpenAlexW3102413383

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.